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Journal articles on the topic 'ABCA12 gene'

Author: Grafiati
Published: 5 June 2025
Last updated: 25 June 2025

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1

Hossain, Md Aktar. "Mechanism of ABCA12 gene Mutation & its severity with improved management & Treatment." International Journal of Scientific & Engineering Research 14, no. 1 (2023): 360–78. http://dx.doi.org/10.14299/ijser.2023.01.02.

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Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid secretion via LGs from alveolar type II cells, and missense mutations in ABCA12 have been reported to cause lamellar ichthyosis type 2, a milder form of ichthyosis. Therefore, we hypothesized that HI might be caused by mutations that lead to serious ABCA12 defects.
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2

Hotz, Alrun, Julia Kopp, Emmanuelle Bourrat, et al. "Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis." Genes 14, no. 3 (2023): 717. http://dx.doi.org/10.3390/genes14030717.

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Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1. The most severe form of ARCI, harlequin ichthyosis, is caused by mutations in ABCA12. Mutations in this gene can also lead to congenital ichthyosiform erythroderma or lamellar ichthyosis. We present a large cohort of 64 patients affected with ARCI carrying biallelic mutations in ABCA12. Our study comprises 34 novel mutations in ABCA12, expanding the mutational spectrum of ABCA12-associated ARCI up to 217 mutations. Within these we found the possible mutational hotspots c.4541G>A, p.(Arg1514His) and c.4139A>G, p.(Asn1380Ser). A correlation of the phenotype with the effect of the genetic mutation on protein function is demonstrated. Loss-of-function mutations on both alleles generally result in harlequin ichthyosis, whereas biallelic missense mutations mainly lead to CIE or LI.
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3

Thomas, Anna C., Tom Cullup, Elizabeth E. Norgett, et al. "ABCA12 Is the Major Harlequin Ichthyosis Gene." Journal of Investigative Dermatology 126, no. 11 (2006): 2408–13. http://dx.doi.org/10.1038/sj.jid.5700455.

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4

Wang, Xiao, Chunwei Cao, Yongshun Li, et al. "A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment." Journal of Molecular Cell Biology 11, no. 12 (2019): 1029–41. http://dx.doi.org/10.1093/jmcb/mjz021.

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AbstractHarlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A>G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production. Z9 pigs exhibit significant clinical symptom as human patients with HI. Most importantly, systemic retinoid treatment significantly prolonged the life span of the mutant pigs via improving epidermal maturation, decreasing epidermal apoptosis, and triggering the expression of ABCA6. Taken together, this pig model perfectly resembles the clinical symptom and molecular pathology of patients with HI and will be useful for understanding mechanistic insight and developing therapeutic strategies.
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5

Song, Deyu, and Sheng Wang. "SG02 First report of ABCA12 mutations causing isolated palmoplantar keratoderma and a review of mild phenotypes associated with ABCA12." British Journal of Dermatology 191, Supplement_1 (2024): i181—i182. http://dx.doi.org/10.1093/bjd/ljae090.384.

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Abstract This report presents a case of isolated palmoplantar keratoderma (PPK) resulting from mutations in the C-terminus of ABCA12, and reviews the reported mild cases associated with ABCA12 mutations. A 31-year-old female patient presented with progressive thickening of the palms and soles since the age of 7 years, with no obvious conscious symptoms. No rashes of ichthyosis were noted on other areas of the body, and no abnormalities of the nails, hair and teeth were identified. Genetic analysis identified a novel compound heterozygous ABCA12 gene mutation in the patient. This included a mutation c.7659_7662dupGAGT (p.Q2555Efs*20) in exon 52 and c.7386G>C (p.M2462I) in exon 50, inherited from her mother and father, respectively. The diagnosis of isolated PPK associated with ABCA12 variants was considered. Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses, encompassing conditions such as congenital ichthyosiform erythroderma (CIE; MIM #601277), harlequin ichthyosis (#242500) and lamellar ichthyosis, often accompanied by PPK. Occasionally, specific ABCA12 mutations have been linked to milder phenotypes, including erythrokeratodermia variabilis et progressiva (EKVP) and pityriasis rubra pilaris (PRP) (Table) (Sun Q, Burgren NM, Cheraghlou S et al. The genomic and phenotypic landscape of ichthyosis: an analysis of 1000 kindreds. JAMA Dermatol 2022; 158: 16–25; Takeichi T, Hamada T, Yamamoto M et al. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. J Dermatol 2024; 51: 101–5). In our study, PPK without lesions of generalized ichthyosis was noted. The identified causal mutations, located in exons 50 and 52, indicate a potential mild loss of protein function in the C-terminus of ABCA12, offering a plausible explanation for the observed mild phenotype. Our study expands the phenotypic spectrum associated with ABCA12 variants and underscores the genetic heterogeneity of isolated PPK.TableABCA12-associated mild keratinization disordersClinical phenotypeGenetic basisEKVPCompound heterozygous: p.N678Rfs*10; c.2866–8T>ACompound heterozygous: p.D844G;p.P1938SCompound heterozygous: p.Y1929*; p.E2284DCompound heterozygous: H1471R; T1534PRPHomozygous: p.T1534MHomozygous: p.R2426WNaevoid form of CIERecessive mosaicism: p.l1257Nfs*4; p.E1227KMild CIE with periodic exacerbationCompound heterozygous: p.N2184I; p.I2307Rfs*14Isolated PPKCompound heterozygous: p.Q2555Efs*20; p.M2462I
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6

Gunawan, Harry, and Flora Anisah Rakhmawati. "Iktiosis Harlequin: Tatalaksana dan Prognosis." Cermin Dunia Kedokteran 48, no. 9 (2021): 339–42. http://dx.doi.org/10.55175/cdk.v48i9.119.

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Iktiosis Harlequin (IH) merupakan kelompok iktiosis kongenital autosomal resesif yang sangat jarang terjadi, dengan prevalensi 1 kasus setiap 300.000 orang. IH memiliki manifestasi klinis tipikal, dilahirkan dengan hiperkeratosis masif yang disebabkan pewarisan gen autosomal resesif mutasi gen adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) yang terlibat dalam sekresi granula lamelar, serta transport seramid dan lipid epidermal. Kemungkinan hidup pasien IH meningkat seiring perbaikan fasilitas perawatan neonatus dan terapi retinoid. Prinsip utama perawatan pasien IH adalah mengupayakan deskuamasi, terapi suportif, dan penanganan kecacatan fisik yang mengancam vitalitas organ. Konseling genetik dan pemeriksaan diagnostik prenatal perlu untuk deteksi dini pada keluarga yang memiliki riwayat IH.
 Harlequin Ichthyosis (HI) is a rare autosomal recessive congenital ichthysosis that occurs in about 1 in 300.000 people. HI is characterized by typical skin manifestation with massive hyperkeratosis due to adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) gene mutation inheritance. The ABCA12 gene is involved in lamellar granule secretion, ceramide, and epidermal lipid transport. Survival rate of HI patient increased along with improvement of neonatal care facilities and administration of systemic retinoid. The main principles of care are desquamation, supportive therapy, and treatment for physical disabilities which threatens organ vitality. Genetic counseling and prenatal diagnosis could benefit family with HI history.
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7

Rajput, Prabhat Singh. "A Newborn in Western Nepal with Harlequin Ichthyosis: A Case Report." Med Phoenix 7, no. 1 (2022): 100–103. http://dx.doi.org/10.3126/medphoenix.v7i1.43941.

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Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis with an incidence of 1 in 300,000 live births. It is lethal in 44% of cases and the baby is usually prematurely born. These babies have thick, highly keratinized armor-like skin, which forms large diamond, trapezoid or rectangular plates separated by deep fissures. These affect the shapes of eyelids, nose, mouth and ears, and also limit movement of the arms, legs and chest. This condition is linked with a nonsense or frameshift mutation in the ABCA12 gene, which is responsible for lipid transport in the keratinocytes. This gene synthesizes a protein that transports a lipid, epidermoside, a glucosylceramide, out of stratum corneum cells in the epidermis. To our knowledge, this is the first case report on Harlequin ichthyosis from Nepal, which makes this case unique. The take away lesson from this case is that couples with consanguineous marriages should undergo screening of ABCA12 gene if they plan to conceive.
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8

Rajput, Prabhat Singh, Santosh Basnet, Pradip kumar Paudel, Bibek Devkota, Ram Jiban Prasad, and Kapil Amgain. "Case Report: A newborn in western Nepal with Harlequin ichthyosis." F1000Research 12 (December 29, 2023): 1609. http://dx.doi.org/10.12688/f1000research.55349.1.

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Harlequin ichthyosis(HI) is a rare autosomal recessive congenital ichthyosis with an incidence of 1 in 300,000 live births. It is lethal in 44% of cases and the baby is usually prematurely born. These babies have thick, highly keratinized armor-like skin, which forms large diamond, trapezoid or rectangular plates separated by deep fissures. These affect the shapes of eyelids, nose, mouth and ears, and also limit movement of the arms, legs and chest. This condition is linked with a nonsense or frameshift mutation in the ABCA12 gene, which is responsible for lipid transport in the keratinocytes. This gene synthesizes a protein that transports a lipid, epidermoside, a glucosylceramide, out of stratum corneum cells in the epidermis. To our knowledge, this is the first case report on Harlequin ichthyosis from Nepal, which makes this case unique. The takeaway lesson from this case is that couples with consanguineous marriages should undergo screening of ABCA12 gene if they plan to conceive.
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9

Gunawan, Harry, and Flora Anisah Rakhmawati. "Iktiosis Harlequin: Tatalaksana dan Prognosis." Cermin Dunia Kedokteran 48, no. 9 (2021): 339. http://dx.doi.org/10.55175/cdk.v48i9.1490.

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<p>Iktiosis Harlequin (IH) merupakan kelompok iktiosis kongenital autosomal resesif yang sangat jarang terjadi, dengan prevalensi 1 kasus setiap 300.000 orang. IH memiliki manifestasi klinis tipikal, dilahirkan dengan hiperkeratosis masif yang disebabkan pewarisan gen autosomal resesif mutasi gen adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) yang terlibat dalam sekresi granula lamelar, serta transport seramid dan lipid epidermal. Kemungkinan hidup pasien IH meningkat seiring perbaikan fasilitas perawatan neonatus dan terapi retinoid. Prinsip utama perawatan pasien IH adalah mengupayakan deskuamasi, terapi suportif, dan penanganan kecacatan fisik yang mengancam vitalitas organ. Konseling genetik dan pemeriksaan diagnostik prenatal perlu untuk deteksi dini pada keluarga yang memiliki riwayat IH.</p><p>Harlequin Ichthyosis (HI) is a rare autosomal recessive congenital ichthysosis that occurs in about 1 in 300.000 people. HI is characterized by typical skin manifestation with massive hyperkeratosis due to adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) gene mutation inheritance. The ABCA12 gene is involved in lamellar granule secretion, ceramide, and epidermal lipid transport. Survival rate of HI patient increased along with improvement of neonatal care facilities and administration of systemic retinoid. The main principles of care are desquamation, supportive therapy, and treatment for physical disabilities which threatens organ vitality. Genetic counseling and prenatal diagnosis could benefit family with HI history.</p><p> </p>
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10

Fioretti, Tiziana, Luigi Auricchio, Angelo Piccirillo, et al. "Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients." Diagnostics 10, no. 12 (2020): 995. http://dx.doi.org/10.3390/diagnostics10120995.

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Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes associated with mutation of different ARCI genes may overlap, thereby making difficult their clinical and molecular classification. In addition, molecular tests for diagnosis of such an extremely rare heterogeneous inherited disease are not easily available in clinical settings. In the attempt of identifying the genetic cause of the disease in four Italian patients with ARCI, we performed next-generation sequencing (NGS) analysis targeting 4811 genes that have been previously linked to human genetic diseases; we focused our analysis on the 13 known ARCI genes comprised in the panel. Nine different variants including three novel small nucleotide changes and two novel large deletions have been identified and validated in the ABCA12, ALOX12B, CYP4F22, and SULT2B1 genes. Notably, two patients had variants in more than one gene. The identification and validation of new pathogenic ABCA12, ALOX12B, CYP4F22, and SULT2B1 variants through multi-gene NGS in four cases of ARCI further highlight the importance of these genes in proper skin function and development.
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11

Terrinoni, Alessandro, Gabriele Sala, Ernesto Bruno, et al. "Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP)." International Journal of Molecular Sciences 24, no. 18 (2023): 13962. http://dx.doi.org/10.3390/ijms241813962.

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Ichthyoses are genetically determined cornification disorders of the epidermis characterized by the presence of different degrees of scaling, hyperkeratosis, and erythroderma often associated with palmoplantar keratoderma. Different classifications of these diseases have been proposed, often based upon the involved genes and/or the clinical presentation. The clinical features of these diseases present some overlap of phenotypes among distinct genetic entities, depending mainly on the penetrance of mutations. In this study, using a clinical, genetic, and molecular approach, we analyzed a family with two affected members who had clinical and histological features resembling erythrokeratodermia variabilis (EKV) or a type of erythrodermic hyperkeratosis with palmoplantar keratoderma. Despite of the clinical presentation, we demonstrated that the affected patients were genetically double heterozygous for two different mutations in the ABCA12 gene, known to be responsible for harlequin ichthyosis. To explain the mild phenotype of our patients, we performed a molecular characterization of the skin. In the upper layers of the epidermis, the results showed a patchy presence of the glucosyl-ceramides (GlcCer), which is the lipid transported by ABCA12, fundamental in contributing to skin impermeability. Indeed, the two mutations detected do not completely abolish ABCA12 activity, indicating that the mild phenotype is due to a partial loss of function of the enzyme, thus giving rise to an intermediate phenotype resembling EKVP, due to a partial depletion of GlcCer deposition.
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12

Sakai, Kaori, Masashi Akiyama, Teruki Yanagi, et al. "ABCA12 Is a Major Causative Gene for Non-Bullous Congenital Ichthyosiform Erythroderma." Journal of Investigative Dermatology 129, no. 9 (2009): 2306–9. http://dx.doi.org/10.1038/jid.2009.23.

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13

Febriani, Andi Dwi Bahagia, and Fitrayani Hamzah. "Harlequin Ichthyosis Baby with Coagulase Negative Staphylococcus Infection: A Case Report." Open Access Macedonian Journal of Medical Sciences 10, no. C (2022): 214–16. http://dx.doi.org/10.3889/oamjms.2022.8524.

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Harlequin ichthyosis (HI) is a rare genetic disease caused by the lipid transporter gene ABCA12 mutation. The incidence is 1 in 300,000 live births. Clinically, the skin's keratin layer thickens to form a geometric pattern resembling a Harlequin clown costume. The mortality rate was high, mainly caused by infections and metabolic abnormalities. We report a case of HI in a preterm baby girl with signs of respiratory distress and sepsis that can survive for 4 months.
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14

Miyagawa, Miyuki, Ayami Fujikawa, Mayu Nagadome, et al. "Glycosylceramides Purified from the Japanese Traditional Non-Pathogenic Fungus Aspergillus and Koji Increase the Expression of Genes Involved in Tight Junctions and Ceramide Delivery in Normal Human Epidermal Keratinocytes." Fermentation 5, no. 2 (2019): 43. http://dx.doi.org/10.3390/fermentation5020043.

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Koji, which is used for manufacturing Japanese traditional fermented foods, has long been safely used as a cosmetic product. Although its cosmetic effect has been empirically established, the underlying mechanism has not been reported. We and other groups have previously elucidated that koji contains glycosylceramides, including N-2′-hydroxyoctadecanoyl-1-O-β-d-glucosyl-9-methyl-4,8-sphingadienine and N-2′-hydroxyoctadecanoyl-1-O-β-d-galactosyl-9-methyl-4,8-sphingadienine. This led us to hypothesise that koji exerts its cosmetic effect by acting on the keratinocytes through glycosylceramides on the gene level. Therefore, in this study, we investigated the effects of glycosylceramides from various sources on gene expression in normal human epidermal keratinocytes. The results revealed that glycosylceramides purified from white koji and the white koji-producing non-pathogenic fungus Aspergillus luchuensis and A. oryzae increased the expression of occludin (OCLN, an epidermal tight junction protein) and ATP-binding cassette sub-family A member 12 (ABCA12, a cellular membrane transporter), albeit the effect was modest relative to that of ceramides. Indeed, ceramide was increased in the keratinocytes upon koji lipid extract addition. These results indicate that glycosylceramides, which are the major sphingolipids of most natural materials, have an effect of increasing ABCA12 and OCLN expression, and suggest that koji exerts its cosmetic effect by increasing ceramide and tight junctions via glycosylceramides.
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15

Haywood, Susan, Mike Boursnell, Michael J. Loughran, et al. "Copper toxicosis in non- COMMD1 Bedlington terriers is associated with metal transport gene ABCA12." Journal of Trace Elements in Medicine and Biology 35 (May 2016): 83–89. http://dx.doi.org/10.1016/j.jtemb.2016.01.015.

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16

Gürkan, Hakan, Judith Fischer, Selma Ulusal, et al. "A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis." Clinical Dysmorphology 24, no. 3 (2015): 115–17. http://dx.doi.org/10.1097/mcd.0000000000000071.

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17

Ghosh, Arnab, B. C. Dutta, and Sudipta Pal. "Harlequin ichthyosis - a rare genetic disorder : a case report." National Journal of Clinical Anatomy 04, no. 04 (2015): 199–201. http://dx.doi.org/10.1055/s-0039-3401570.

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AbstractHarlequin lchthyosis(HI) is a type of genodermatosis. It is a rare and fatal genetic disease. Life expectancy in an affected infant is only a few days. The defect lies in mutation of ABCA12 gene. The barrier action of skin is severely compromised making the infant prone to infections and dehydration. Present treatment protocol consists mainly of conservative and supportive therapies. The authors report this case as it is a rare disease. The main purpose of this report is to create awareness about the disease and discuss the genetic factors along with micro anatomy of skin ultimately leading to this condition.
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18

Rathod, Kamleshkumar G., Parth Mali, and Bharat Muliya. "Harlequin Ichthyosis: Navigating the Challenges of a Rare Case." GAIMS Journal of Medical Sciences 4, no. 2 (2024): 53–55. https://doi.org/10.5281/zenodo.11575779.

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<strong>ABSTRACT</strong> Ichthyosis, derived from the Greek word "ichthys" meaning fish, encompasses various skin disorders characterized by dry, scaly,&nbsp;and thickened skin, often inherited through autosomal or X-linked modes. This case report discusses a rare and severe form&nbsp;known as Harlequin ichthyosis, presenting a second gravida woman with consanguinity history who delivered a male baby with&nbsp;characteristic features including porcelain-like skin, ectropion, eclabion, and flexion deformities. Despite supportive measures,&nbsp;the baby died shortly after birth. Harlequin ichthyosis, with an incidence of 1 in 300,000 births, arises from mutations in the&nbsp;ABCA12 gene, affecting lipid exocytosis and desquamation. Antenatal diagnosis is feasible through ultrasound findings andgenetic testing, with a grim prognosis and limited survival beyond infancy. This report underscores the challenges in managing&nbsp;such conditions and highlights the importance of ongoing research for better understanding and management.
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19

Akiyama, M. "Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer." Journal of Clinical Investigation 115, no. 7 (2005): 1777–84. http://dx.doi.org/10.1172/jci24834.

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20

Galbraith, G. M. P. "Mutations in Lipid Transporter ABCA12 in Harlequin Ichthyosis and Functional Recovery by Corrective Gene Transfer." Yearbook of Dermatology and Dermatologic Surgery 2006 (January 2006): 203–4. http://dx.doi.org/10.1016/s0093-3619(08)70156-4.

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21

Sahil, Karpe* Aniket Sawarkar Prajwal Koram Anju Tanna Mahendra Gunde. "Novel Strategies in The Treatment of Life-Threatening Diseases: Focus on Harlequin Ichthyosis." International Journal of Pharmaceutical Sciences 3, no. 4 (2025): 786–96. https://doi.org/10.5281/zenodo.15167514.

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Harlequin Ichthyosis (HI) is a rare, life-threatening genetic disorder caused by mutations in the ABCA12 gene, leading to severe skin abnormalities, dehydration, and infection risk. Current treatments focus on supportive care, including topical emollients, systemic retinoids, and neonatal intensive care, which have improved survival but remain palliative rather than curative. Advances in genetic and molecular research offer promising novel strategies, such as CRISPR-Cas9 gene editing, stem cell therapy, targeted drug treatments, and innovative drug delivery systems. These approaches aim to correct the underlying genetic defect, enhance lipid transport, and improve skin barrier function. However, challenges persist, including treatment accessibility, ethical considerations, and long-term safety concerns. Overcoming these hurdles requires a multidisciplinary approach integrating genetics, bioengineering, and pharmacology. With continued research and policy reforms, transformative therapies may shift HI treatment from symptomatic management to curative solutions, improving survival rates and quality of life for affected individuals.
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Sheth, Jayesh J., Riddhi Bhavsar, Dhairya Patel, Aishwarya Joshi, and Frenny J. Sheth. "Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis." International Journal of Dermatology 57, no. 4 (2018): 428–33. http://dx.doi.org/10.1111/ijd.13923.

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23

Bahashwan, Emad, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, and Youssef Elbayoumi Soliman. "Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review." Case Reports in Dermatological Medicine 2024 (January 12, 2024): 1–6. http://dx.doi.org/10.1155/2024/8729318.

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Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.
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24

KOBASHI, Haruka, Tatsushi ISHIMOTO, Mayuko YAMAMOTO, et al. "A Novel Missense Mutation in the ABCA12 Gene in Japanese Siblings with Congenital Ichthyosis Erythroderma." Nishi Nihon Hifuka 81, no. 5 (2019): 382–86. http://dx.doi.org/10.2336/nishinihonhifu.81.382.

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25

Follmann, Johannes, Doris Macchiella, Catharina Whybra, et al. "Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis." Gene 531, no. 2 (2013): 510–13. http://dx.doi.org/10.1016/j.gene.2013.07.046.

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26

Palandurkar, Pooja, Doulisa Jain, and Pavankumar Wankhade. "Harlequin Ichthyosis: A Rare Skin Disorder." Journal of Advances in Medical and Pharmaceutical Sciences 25, no. 11 (2023): 1–7. http://dx.doi.org/10.9734/jamps/2023/v25i11649.

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Harlequin ichthyosis, an exceptionally rare and severe genetic skin disorder, presents a unique intersection of genetics, skin biology, and clinical manifestation. This congenital condition, a severe form of ichthyosis, has captivated the medical community due to its striking clinical features. It arises from genetic mutations in the ABCA12 gene, disrupting skin barrier formation. The clinical presentation is characterized by diamond-shaped scales, facial distortions, and medical challenges, particularly in neonates. Historical accounts have contributed to our evolving understanding, culminating in recent genetic advancements. While no cure exists, treatment involves a combination of medical interventions and supportive care. The psychosocial impact on affected individuals and families is profound. Despite challenges, the future is promising, driven by genomics, precision medicine, novel therapies, and collaborative research. Harlequin ichthyosis represents a remarkable example of progress at the intersection of science and compassion.
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27

Tanasal, Hanny, Iline Michaela, and Retno Danarti. "A Case of Harlequin Ichthyosis: Improvement Survival Rate with Early Isotretinoin Therapy." OBM Genetics 09, no. 01 (2025): 1–12. https://doi.org/10.21926/obm.genet.2501281.

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Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the &lt;em&gt;ABCA12&lt;/em&gt; gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales covers the entire body. Affected newborns have abnormal facial features, such as ectropion, eclabium, and ears and nose flattening. Although HI was formerly assumed to be fatal, more intensive neonatal care and early retinoid therapy may improve the patients' survival rates. This case report aims to present a case of a 5-year-old boy born with HI who survived with isotretinoin treatment since day 5 of life. Despite advances in medical care, HI remains a challenging condition with an abnormality that lasts a lifetime and can lead to a variety of medical difficulties following birth.
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Abdulghani Taj, Mashael, Imtinan Abdulaziz Alharbi, Lein Walid Azzhary, Renad Ghazi Alhazmi, Taha Hussain Habibullah, and Salma Samir Mohammed. "A RARE CASE OF HARLEQUIN ICHTHYOSIS SUCCESSFULLY TREATED WITH ACITRETIN: A CASE REPORT AND LITERATURE REVIEW." International Journal of Advanced Research 9, no. 11 (2021): 498–502. http://dx.doi.org/10.21474/ijar01/13768.

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Harlequin Ichthyosis is the most serious congenital keratinization disorder. When the children are born, they are enveloped in thick horn armor. They are thick yellow horn plates that tear deeply when they dry out. In the most severe form, the children often die in the first few weeks of life. But there are also many milder courses, whereby there are obviously flowing transitions from collodion baby to harlequin ichthyosis. The skin condition later corresponds to that of a child with severe congenital ichthyosis (ARCI). Similar to the collodion baby, cases of harlequin ichthyosis should initially be cared for in the intensive care unit for newborns and require interdisciplinary therapy. Harlequin ichthyosis is caused by very special mutations in the ABCA12 gene. These mutations also have an impact on survival. If homozygous mutations are present, the prospects are worse than if the parents have heterozygous mutations. Homozygous mutations are often present when the parents are consanguineous.
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Ahmed, Mohammed Ahmed Ibrahim, Mohamed Ali Saad Mohamed, Salwa Ahmed Mohammed Abbas, Athar Asim Ahmed Mohammed, and Nosiba Ibrahim Hammed Alyamani. "Postnatal diagnosis of harlequin ichthyosis a case report." International Journal of Pregnancy & Child Birth 7, no. 2 (2021): 40–43. http://dx.doi.org/10.15406/ipcb.2021.07.00224.

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Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin ichthyosis (HI) was a rare and extreme type that led to neonatal death. It was caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. Case report: We present a case of HI that was diagnosed postnatally by clinical review. Extreme ectropion, eclabium, flattened nose, and primitive ears were discovered in the fetus. As a result of HI complications, the fetus died. Conclusion: The presence of HI was linked to a poor prognosis and a high mortality rate. Prenatal ultrasound and genetic analysis were critical for prenatal diagnosis of HI, but genetic modalities were not available and were prohibitively costly, despite their utility in providing appropriate prenatal therapy to families with HI babies. This case was recorded because of its rarity, as well as to draw attention to the connection between.
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Gardner, L., A. K. Dewan, and J. Meyer. "397 Characterization of ABCA12 gene variant by electron microscopy in an infant with an ichthyosiform dermatitis and MALT1 deficiency." Journal of Investigative Dermatology 142, no. 8 (2022): S68. http://dx.doi.org/10.1016/j.jid.2022.05.406.

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31

Hotz, Alrun, Julia Kopp, Emmanuelle Bourrat, et al. "Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients." Genes 12, no. 1 (2021): 80. http://dx.doi.org/10.3390/genes12010080.

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The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations.
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Hotz, Alrun, Julia Kopp, Emmanuelle Bourrat, et al. "Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients." Genes 12, no. 1 (2021): 80. http://dx.doi.org/10.3390/genes12010080.

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The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations.
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33

Piórkowska, K., K. Ropka-Molik, T. Szmatoła, K. Zygmunt, and M. Tyra. "Association of a new mobile element in predicted promoter region of ATP-binding cassette transporter 12 gene (ABCA12) with pig production traits." Livestock Science 168 (October 2014): 38–44. http://dx.doi.org/10.1016/j.livsci.2014.07.015.

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34

Deshmukh, Nitika S., Anil Gosavi, Ravindranath B. Chavan, and Vasudha A. Belgaumkar. "Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia." Serbian Journal of Dermatology and Venereology 12, no. 3 (2020): 97–99. http://dx.doi.org/10.2478/sjdv-2020-0015.

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Abstract Harlequin ichthyosis (HI) is a severe form of congenital ichthyosis with autosomal recessive inheritance. Incidence of harlequin ichthyosis is 1 in 3,00,000 live births. We report a case of HI associated with bilateral choanal atresia and atrial septal defects, which is a rare association in this skin disorder. A-month-old preterm male baby born out of consanguineous marriage presented with features of armour-like scales and erythema all over body, ectropion, eclabium and fissures over flexures. The patient was born with a colloidion membrane at birth. The baby was operated for bilateral choanal atresia soon after birth because he developed cyanosis upon breast feeding which improved on crying. Upon flexible nasal endoscopy, diagnosis of membranous type of choanal atresia was confirmed by ENT (ear, nose, throat) surgeon. Heart auscultation revealed a murmur in our patient. Electrocardiogram and 2D Echocardiography was reported as atrial septal defect (4.5 mm OsASD). The patient was started on acitretin (1 mg/kg/day) and emollients after complete evaluation and is currently on regular follow up. Harlequin ichthyosis is linked to mutation of ABCA12 gene. It is often associated with eclabium, ectropion, hypoplastic nose, ears and fingers. Congenital heart diseases are rarely reported with HI in literature. This makes it mandatory to screen HI patients for internal defects.
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Iqbal, Jahangir, Meghan T. Walsh, and M. Mahmood Hussain. "ATP-Binding Cassette Transporter Family C Protein 10 Participates in the Synthesis and Efflux of Hexosylceramides in Liver Cells." Nutrients 14, no. 20 (2022): 4401. http://dx.doi.org/10.3390/nu14204401.

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In addition to sphingomyelin and ceramide, sugar derivatives of ceramides, hexosylceramides (HexCer) are the major circulating sphingolipids. We have shown that silencing of ABCA1 transmembrane protein function for instance in cases of loss of function of ABCA1 gene results in low levels of HDL as well as a concomitant reduction in plasma HexCer levels. However, proteins involved in hepatic synthesis and egress of HexCer from cells is not well known although ABCA1 seems to be indirectly controlling the HexCer plasma levels by supporting HDL synthesis. In this study, we hypothesized that protein(s) other than ABCA1 are involved in the transport of HexCer to HDL. Using an unbiased knockdown approach, we found that ATP-binding cassette transporter protein C10 (ABCC10) participates in the synthesis of HexCer and thereby affects egress to HDL in human hepatoma Huh-7 cells. Furthermore, livers from ABCC10 deficient mice had significantly lower levels of HexCer compared to wild type livers. These studies suggest that ABCC10 partakes in modulating the synthesis and subsequent efflux of HexCer to HDL in liver cells.
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36

Elshani, Brikene, Astrit Gashi, Besa Selimi, and Arion Elshani. "Harlequin Ichthyosis – Genetic and Dermatological Challenges: A Case Report and Literature Review." International Journal of Biomedicine 14, no. 1 (2024): 182–86. http://dx.doi.org/10.21103/article14(1)_cr7.

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Harlequin ichthyosis (HI) is an extremely rare and severe genetic skin disorder characterized by thick, diamond-shaped scales covering the body, often giving the appearance of a harlequin costume. This paper provides an overview of the genetic and dermatological aspects of HI, delving into its etiology, clinical manifestations, and management. The genetic underpinnings of HI involve mutations in the ABCA12 gene, leading to impaired skin barrier function and abnormal keratinization. Understanding the molecular basis of the disorder is crucial for accurate diagnosis and potential therapeutic interventions. Clinically, HI presents challenges related to skin integrity, thermoregulation, and potential complications, such as infections. The management of HI requires a multidisciplinary approach involving dermatologists, geneticists, and other healthcare professionals. Supportive care, including emollients, careful bathing, and prevention of infections, is essential to improve the quality of life for individuals affected by this condition. Despite its rarity and severity, advancements in medical research and genetic therapies offer hope for improved treatments and interventions. This paper aims to contribute to the collective understanding of HI, fostering ongoing research and compassionate care for those living with this unique and challenging dermatological condition. We presented a premature eutrophic harlequin baby, born at 32+ weeks of gestation via emergency C-section. A clinical diagnosis was established minutes after birth, based on the typical features of HI, from scaly skin, marked fissures, and limbs in flexion contractures to prominent eclabium and bilateral ectropion.
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37

Vella, Vella, Mimi Maulida, Nanda Earlia, et al. "A fatal case of Harlequin ichthyosis: Experience from low-resource setting." Narra J 3, no. 3 (2023): e302. http://dx.doi.org/10.52225/narra.v3i3.302.

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Harlequin ichthyosis is a severe and fatal presentation of ichthyosis with an autosomal recessive inheritance. Infants with Harlequin ichthyosis have a high mortality rate, and a dismal prognosis; therefore the majority of neonates die shortly after birth from infection, heat loss, dehydration, electrolytic imbalances, or respiratory distress. The aim of this case report was to present a fatal case of Harlequin ichthyosis with no family history of any inherited skin disorder. A 3-day-old baby was presented to the emergency room with congenital abnormalities at birth, fissured hyperkeratotic skin, and thick yellow plates of scales. The parents had no history of consanguineous marriage, no relevant past medical history, and no family history of the same condition. The patient was unwell, pulse 162 times/minute, respiratory rate 48 times/minute, and axillary temperature 36.9oC. APGAR score was 8 in the 1st minute and 9 in the 5th minute. Based on the typical clinical appearance, the patient was diagnosed with Harlequin ichthyosis. Due to a lack of facility, a mutation analysis was not carried out. The patient was then transferred to the neonatal intensive care unit (NICU) and treated in a humidified incubator and medicated with intravenous antibiotics (ampicillin sulbactam 125 mg/12 hour and gentamicin 13 mg/24 hour), topically fusidic acid and mild emollients. A central venous catheter was used for intravenous access. The poor prognosis resulted in the patient dying at the age of 5-day-old. This case highlights that prenatal diagnosis is critical for early detection and disease prevention. Mutation screening for the ABCA12 gene is suggested for consanguinity marriages and with a history of ichthyosis.
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Phon, Brandon Wee Siang, Shalini Sundramurthi Chelliah, Dina El-Rabie Osman, Saatheeyavaane Bhuvanendran, Ammu Kutty Radhakrishnan, and Muhamad Noor Alfarizal Kamarudin. "Revisiting ABC Transporters and Their Clinical Significance in Glioblastoma." Pharmaceuticals 18, no. 1 (2025): 102. https://doi.org/10.3390/ph18010102.

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Background: The multiple drug-resistant phenomenon has long since plagued the effectiveness of various chemotherapies used in the treatment of patients with glioblastoma (GBM), which is still incurable to this day. ATP-binding cassette (ABC) transporters function as drug transporters and have been touted to be the main culprits in developing resistance to xenobiotic drugs in GBM. Methods: This review systematically analyzed the efficacy of ABC transporters against various anticancer drugs from 16 studies identified from five databases (PubMed, Medline, Embase, Scopus, and ScienceDirect). Results: Inhibition of ABC transporters, especially ABCB1, improved drug efficacies. Staple GBM phenotypes, such as GBM stem cells and increased activation of the PI3K/Akt/NF-κB pathway, have been implicated in the expression of several ABC transporters. Using the datasets in The Cancer Genome Atlas and Gene Expression Omnibus, we found upregulated ABC transporters that either negatively impacted survival in univariate analyses (ABCA1, ABCA13, ABCB9, ABCD4) or were independent negative prognosis factors for patients with GBM (ABCA13, ABCB9). Our multivariate analysis further demonstrated three ABC transporters, ABCA13 (Hazard Ratio (HR) = 1.31, p = 0.017), ABCB9 (HR = 1.26, p = 0.03), and ABCB5 (HR = 0.77, p = 0.016), with the administration of alkylating agents (HR = 0.41, p &lt; 0.001), were independent negative prognosis factors for patients with GBM. Conclusions: These findings reinforce the important role played by ABC transporters, particularly by ABCA13, ABCB9, and ABCB1, which could be potential targets that warrant further evaluations for alternate strategies to augment the effects of existing alkylating agents and xenobiotic drugs.
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Мирошникова, В. В., А. А. Пантелеева, И. А. Побожева та ін. "Аdipose tissue expression of ABCA1 and ABCG1 transporters genes in obesity, metabolic syndrome and ischemic heart disease". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», № 5(214) (29 травня 2020): 56–57. http://dx.doi.org/10.25557/2073-7998.2020.05.56-57.

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Ожирение ассоциировано с повышенным риском развития метаболических нарушений и сердечно-сосудистых заболеваний. В нашем исследовании мы показали, что экспрессия генов транспортеров холестерина ABCA1 и ABCG1 в жировой ткани может играть роль в развитии ожирения, дислипидемии, метаболического синдрома и ишемической болезни сердца (ИБС). Obesity is linked to increased cardiometabolic risk. Our study shows that cholesterol transporters ABCA1 and ABCG1 gene expression plays a role in development of obesity, dyslipidemia, metabolic syndrome and ischemic heart disease.
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40

Rezaeian, Iman, Eliseos J. Mucaki, Katherina Baranova, et al. "Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning." F1000Research 5 (January 27, 2017): 2124. http://dx.doi.org/10.12688/f1000research.9417.2.

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Genomic aberrations and gene expression-defined subtypes in the large METABRIC patient cohort have been used to stratify and predict survival. The present study used normalized gene expression signatures of paclitaxel drug response to predict outcome for different survival times in METABRIC patients receiving hormone (HT) and, in some cases, chemotherapy (CT) agents. This machine learning method, which distinguishes sensitivity vs. resistance in breast cancer cell lines and validates predictions in patients; was also used to derive gene signatures of other HT (tamoxifen) and CT agents (methotrexate, epirubicin, doxorubicin, and 5-fluorouracil) used in METABRIC. Paclitaxel gene signatures exhibited the best performance, however the other agents also predicted survival with acceptable accuracies. A support vector machine (SVM) model of paclitaxel response containing genes ABCB1, ABCB11, ABCC1, ABCC10, BAD, BBC3, BCL2, BCL2L1, BMF, CYP2C8, CYP3A4, MAP2, MAP4, MAPT, NR1I2, SLCO1B3, TUBB1, TUBB4A, and TUBB4B was 78.6% accurate in predicting survival of 84 patients treated with both HT and CT (median survival ≥ 4.4 yr). Accuracy was lower (73.4%) in 304 untreated patients. The performance of other machine learning approaches was also evaluated at different survival thresholds. Minimum redundancy maximum relevance feature selection of a paclitaxel-based SVM classifier based on expression of genes BCL2L1, BBC3, FGF2, FN1, and TWIST1 was 81.1% accurate in 53 CT patients. In addition, a random forest (RF) classifier using a gene signature (ABCB1, ABCB11, ABCC1, ABCC10, BAD, BBC3, BCL2, BCL2L1, BMF, CYP2C8, CYP3A4, MAP2, MAP4, MAPT, NR1I2,SLCO1B3, TUBB1, TUBB4A, and TUBB4B) predicted &gt;3-year survival with 85.5% accuracy in 420 HT patients. A similar RF gene signature showed 82.7% accuracy in 504 patients treated with CT and/or HT. These results suggest that tumor gene expression signatures refined by machine learning techniques can be useful for predicting survival after drug therapies.
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41

Mucaki, Eliseos J., Katherina Baranova, Huy Q. Pham, et al. "Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning." F1000Research 5 (May 12, 2017): 2124. http://dx.doi.org/10.12688/f1000research.9417.3.

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Genomic aberrations and gene expression-defined subtypes in the large METABRIC patient cohort have been used to stratify and predict survival. The present study used normalized gene expression signatures of paclitaxel drug response to predict outcome for different survival times in METABRIC patients receiving hormone (HT) and, in some cases, chemotherapy (CT) agents. This machine learning method, which distinguishes sensitivity vs. resistance in breast cancer cell lines and validates predictions in patients; was also used to derive gene signatures of other HT (tamoxifen) and CT agents (methotrexate, epirubicin, doxorubicin, and 5-fluorouracil) used in METABRIC. Paclitaxel gene signatures exhibited the best performance, however the other agents also predicted survival with acceptable accuracies. A support vector machine (SVM) model of paclitaxel response containing genes ABCB1, ABCB11, ABCC1, ABCC10, BAD, BBC3, BCL2, BCL2L1, BMF, CYP2C8, CYP3A4, MAP2, MAP4, MAPT, NR1I2, SLCO1B3, TUBB1, TUBB4A, and TUBB4B was 78.6% accurate in predicting survival of 84 patients treated with both HT and CT (median survival ≥ 4.4 yr). Accuracy was lower (73.4%) in 304 untreated patients. The performance of other machine learning approaches was also evaluated at different survival thresholds. Minimum redundancy maximum relevance feature selection of a paclitaxel-based SVM classifier based on expression of genes BCL2L1, BBC3, FGF2, FN1, and TWIST1 was 81.1% accurate in 53 CT patients. In addition, a random forest (RF) classifier using a gene signature (ABCB1, ABCB11, ABCC1, ABCC10, BAD, BBC3, BCL2, BCL2L1, BMF, CYP2C8, CYP3A4, MAP2, MAP4, MAPT, NR1I2,SLCO1B3, TUBB1, TUBB4A, and TUBB4B) predicted &gt;3-year survival with 85.5% accuracy in 420 HT patients. A similar RF gene signature showed 82.7% accuracy in 504 patients treated with CT and/or HT. These results suggest that tumor gene expression signatures refined by machine learning techniques can be useful for predicting survival after drug therapies.
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42

Trujillo-Paolillo, Alini, Francine Tesser-Gamba, Maria Teresa Seixas Alves, et al. "Pharmacogenetics of the Primary and Metastatic Osteosarcoma: Gene Expression Profile Associated with Outcome." International Journal of Molecular Sciences 24, no. 6 (2023): 5607. http://dx.doi.org/10.3390/ijms24065607.

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Osteosarcoma (OS) is the most common malignant bone tumor in children and adolescents. In recent decades, OS treatment has reached a plateau and drug resistance is still a major challenge. Therefore, the present study aimed to analyze the expression of the genes related to pharmacogenetics in OS. The expression of 32 target genes in 80 paired specimens (pre-chemotherapeutic primary tumor, post-chemotherapeutic primary tumor and pulmonary metastasis) obtained from 33 patients diagnosed with OS were analyzed by the real-time PCR methodology. As the calibrators (control), five normal bone specimens were used. The present study identified associations between the OS outcome and the expression of the genes TOP2A, DHFR, MTHFR, BCL2L1, CASP3, FASLG, GSTM3, SOD1, ABCC1, ABCC2, ABCC3, ABCC5, ABCC6, ABCC10, ABCC11, ABCG2, RALBP1, SLC19A1, SLC22A1, ERCC1 and MSH2. In addition, the expression of the ABCC10, GGH, GSTM3 and SLC22A1 genes were associated with the disease event, and the metastasis specimens showed a high expression profile of ABCC1, ABCC3 and ABCC4 genes and a low expression of SLC22A1 and ABCC10 genes, which is possibly an important factor for resistance in OS metastasis. Therefore, our findings may, in the future, contribute to clinical management as prognostic factors as well as possible therapeutic targets.
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43

Al-Awaida, Wajdy J., Hamzeh J. Al-Ameer, Ahmad Sharab, Ghizal Fatima, and Najah R. Hadi. "THE ATP-BINDING CASSETTE TRANSPORTER A1 GENE POLYMORPHISMS AND TYPE 2 DIABETES MELLITUS." Era's Journal of Medical Research 9, no. 1 (2022): 45–51. http://dx.doi.org/10.24041/ejmr2022.07.

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Insulin resistance (IR), secretion of insulin, and abnormalities of lipid metabolism are all markers of type 2 diabetes (T2DM), which is a progressive and complex metabolic disorder. Major risk factors for the development of T2DM were identified as genetic, environmental, and lifestyle factors. Several studies found that many genes contribute to T2DM susceptibility after glucose tolerance. Adenosine Binding Cassette Transporter Proteins 1 is a member of the ABC gene superfamily that is involved in cholesterol transport and HDL cholesterol (HDL-C) biosynthesis. Abnormal cholesterol metabolism, particularly high-density lipoprotein, has been related to genetic variations in the ABCA1 gene (HDL-C). Previous research suggested that ABCA1 gene polymorphisms may a hereditary risk factor for type 2 diabetes, along with lower HDLlevels in various populations.
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44

Bich Phuong, Ho Thi, Nguyen Dang Quan, Phan Thi Kim Tram, Tang Ha Nam Anh, and Le Thi Truc Linh. "ABCA1 is direct target gene of miR-144-3p in chondrocyte." Vietnam Journal of Biotechnology 21, no. 3 (2024): 455–61. http://dx.doi.org/10.15625/1811-4989/17315.

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MicroRNA144-3p was reported to associate with osteoarthritis (OA) since it was upregulated in this disease. ABCA1 was also found to involve in OA. Bioinformatics algorithms showed ABCA1 was potential targets of miR-144-3p. This study aims to prove ABCA1 is direct targets of miR-144-3p experimentally. Expression of ABCA1 was determined by Realtime RT-PCR after performing the gain- and loss- function of miR-144-3p in chondrocyte. The 3’UTR containing several binding sites of miR-144-3p was subcloning. The vector with binding sites of miR-144-3p mutated was aslo created. Luciferase assay was performed to check the ability of miR-144-3p binding to ABCA1. Realtime RT-PCR showed that the overexpression of miR-144-3p inhibited ABCA1 expression. The Luciferase assay showed that miR-144-3p directly interacted with ABCA1 through its binding sites on the 3’UTR. These data suggested that ABCA1 is the direct target of miR-144-3p.
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45

Rezaeian, Iman, Eliseos J. Mucaki, Katherina Baranova, et al. "Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning." F1000Research 5 (August 31, 2016): 2124. http://dx.doi.org/10.12688/f1000research.9417.1.

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Abstract:
Genomic aberrations and gene expression-defined subtypes in the large METABRIC patient cohort have been used to stratify and predict survival. The present study used normalized gene expression signatures of paclitaxel drug response to predict outcome for different survival times in METABRIC patients receiving hormone (HT) and, in some cases, chemotherapy (CT) agents. This machine learning method, which distinguishes sensitivity vs. resistance in breast cancer cell lines and validates predictions in patients, was also used to derive gene signatures of other HT (tamoxifen) and CT agents (methotrexate, epirubicin, doxorubicin, and 5-fluorouracil) used in METABRIC. Paclitaxel gene signatures exhibited the best performance, however the other agents also predicted survival with acceptable accuracies. A support vector machine (SVM) model of paclitaxel response containing the ABCB1, ABCB11, ABCC1, ABCC10, BAD, BBC3, BCL2, BCL2L1, BMF, CYP2C8, CYP3A4, MAP2, MAP4, MAPT, NR1I2, SLCO1B3, TUBB1, TUBB4A, TUBB4B genes was 78.6% accurate in 84 patients treated with both HT and CT (median survival ≥ 4.4 yr). Accuracy was lower (73.4%) in 304 untreated patients. The performance of other machine learning approaches were also evaluated at different survival thresholds. Minimum redundancy maximum relevance feature selection of a paclitaxel-based SVM classifier based on expression of ABCB11, ABCC1, BAD, BBC3 and BCL2L1 was 79% accurate in 53 CT patients. A random forest (RF) classifier produced a gene signature (ABCB11, ABCC1, BAD, BCL2, CYP2C8, CYP3A4, MAP4, MAPT, NR1I2, TUBB1, GBP1, OPRK1) that predicted &gt;3 year survival with 82.4% accuracy in 420 HT patients. A similar RF gene signature showed 79.6% accuracy in 504 patients treated with CT and/or HT. These results suggest that tumor gene expression signatures refined by machine learning techniques can be useful for predicting survival after drug therapies.
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46

Ghoneim, Ragia H., Emilienne T. Ngo Sock, Jean-Marc Lavoie, and Micheline Piquette-Miller. "Effect of a high-fat diet on the hepatic expression of nuclear receptors and their target genes: relevance to drug disposition." British Journal of Nutrition 113, no. 3 (2015): 507–16. http://dx.doi.org/10.1017/s0007114514003717.

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More than 1·4 billion individuals are overweight or obese worldwide. While complications often require therapeutic intervention, data regarding the impact of obesity on drug disposition are scarce. As the influence of diet-induced obesity on drug transport and metabolic pathways is currently unclear, the objective of the present study was to investigate the effect of high fat feeding for 13 weeks in female Sprague–Dawley rats on the hepatic expression of the nuclear receptors pregnane X receptor (PXR), constitutive androstane receptor (CAR), liver X receptor (LXR) and farnesoid X receptor (FXR) and several of their target genes. We hypothesised that high fat feeding would alter the gene expression of major hepatic transporters through a dysregulation of the expression of the nuclear receptors. The results demonstrated that, along with a significant increase in body fat and weight, a high-fat diet (HFD) induced a significant 2-fold increase in the expression of PXR as well as a 2-, 5- and 2·5-fold increase in the hepatic expression of the PXR target genes Abcc2, Abcb1a and Cyp3a2, respectively (P&lt; 0·05). The expression levels of FXR were significantly increased in rats fed a HFD in addition to the increase in the expression levels of FXR target genes Abcb11 and Abcb4. The expression levels of both LXRα and LXRβ were slightly but significantly increased in rats fed a HFD, and the expression levels of their target genes Abca1 and Abcg5, but not Abcg8, were significantly increased. The expression of the nuclear receptor CAR was not significantly altered between the groups. This suggests that a HFD may induce changes in the hepatobiliary transport and metabolism of endogenous and exogenous compounds.
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47

WU, Cheng-ai, Na WANG, and Dan-hui ZHAO. "An evaluation of the mechanism of ABCA7 on cellular lipid release in ABCA7-HEC293 cell." Chinese Medical Journal 126, no. 2 (2013): 306–10. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20123502.

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Background ABCA7 is a member of the ABCA subfamily that shows a high degree of homology to ABCA1 and, like ABCA1, mediates cellular cholesterol and phospholipid release by apolipoproteins when transfected in vitro. However, expression of ABCA7 has been shown to be downregulated by increased cellular cholesterol while ABCA1 was upregulated. Methods The underlying mechanism for this effect was examined in ABCA1 or ABCA7-transfected HEC293. Lipid content in the medium and cells was determined by enzymatic assays. Gene expression was quantitated by real time PCR, and protein content was determined by Western blotting. Results While ABCA7 mRNA was decreased by 25-hydroxycholesterol treatment, ABCA1 was apparently increased. Treatment with the synthetic LXR agonist T0901317 (T09) upregulated ABCA1 expression and apoAI-mediated cellular lipid release in ABCA1-transfected HEC293 cells, but ABCA7 expression and cellular lipid release in ABCA7-transfected HEC293 cells showed no obvious changes. Conclusion The ABCA7 gene is regulated by sterol in a direction opposite to that of ABCA1.
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Tsyganov, M. M., M. K. Ibragimova, A. M. Pevzner, et al. "Gene expression analysis of ABC transporter family in breast tumors: relationship with chemotherapy effect and disease prognosis." Advances in Molecular Oncology 7, no. 2 (2020): 29–38. http://dx.doi.org/10.17650/2313-805x-2020-7-2-29-38.

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Background. One of the main reasons of the ineffectiveness of chemotherapy is still considered to be the formation of the multidrug resistance phenotype of the tumor due to the expression of energy-dependent proteins of ABC transporters. Our previous studies for some ABC genes have established that the expression of these genes correlates with the effectiveness of neoadjuvant chemotherapy (NAC). Some of the clinical studies indicate that ABC transporters can influence not only the formation of chemoresistance in the tumor, but also the progression, invasion and metastasis of the tumor node. Objective: to evaluate the level of transcription of all 49 known ABC genes in a breast tumor before and after treatment and their prognostic significance. Materials and methods. The study included 31 patients with a diagnosis of stage IIA – IIIB breast cancer. RNA was isolated from paired samples of tumor tissue before and after NAC. A microarray study of all tumor samples was performed on ClariomТМ S Assay, human microarrays. Using microarray studies, the expression of 49 genes of the ABC transporter family was studied. Analysis of the microchip data was carried out using the program Transcriptome Analysis Console (TAC) software 4.0. Results. It was found that changes in the expression (increase/decrease during NAC) of the ABCA5, ABCA7, ABCB1, ABCB4, ABCB11, ABCC1, ABCC10, ABCC11, ABCG1, ABCG2, ABCG4, ABCG5, ABCG8 genes are statistically significantly associated with the response to NAC. In addition, the prognostic significance of ABCB1 and ABCB4 gene expression was established. Survival analysis showed that 5-year survival rates in patients with high gene expression of ABCB1 and ABCB4 are lower compared to patients with low expression of these genes (log-rank-test p = 0.001 and 0.04 respectively). Conclusion. Data were obtained on the relationship of gene expression of the ABC transporter family with the effect of NAC in patients with breast cancer and the outcome of the disease. The prognostic potential of the ABCB1 and ABCB4 genes in patients with breast cancer has been established.
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Shayannia, Asghar, Mohammad Hassan Emamian, Hassan Hashemi, and Akbar Fotouhi. "Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population." International Journal of Ophthalmology 18, no. 5 (2025): 846–52. https://doi.org/10.18240/ijo.2025.05.09.

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AIM: To examine whether rs2472493 and rs248032 in the ABCA1 gene, rs3785176 in the PMM2 gene, and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma (POAG) in an Iranian population. METHODS: Totally 82 POAG patients and 172 healthy controls were enrolled. The selected gene polymorphisms were analyzed using TaqMan SNP Genotyping Assay using deoxyribonucleic acid (DNA) extracted from blood samples. Allelic and genotypic frequencies were evaluated using the Chi-square test. The association between the genotypes of single nucleotide polymorphisms (SNPs) and POAG was assessed using multiple logistic regression models. The linkage disequilibrium and haplotype block structure were assessed using the Haploview 4.2 software. RESULTS: The results showed a significant association between allele frequencies of rs2472493 in the ABCA1 gene locus and POAG [odds ratio (OR)=1.58, 95% confidence intervals (CI)=1.04-2.39, P=0.031]. The rs3785176 in the PMM2 gene was also associated with POAG in additive and over dominant genotypes. Moreover, haplotype analysis showed a significant association of two estimated haplotypes of rs2472493/rs2487032 with POAG. The AA haplotype showed a reduction in POAG risk (OR=0.41, 95%CI=0.202-0.834, P=0.012), while the GG haplotype was associated with the disease. In addition, this study could not discover any association between genotype and allele frequency of rs248032 in the ABCA1 gene, and rs11827818 in ARHGEF12 gene and POAG. CONCLUSION: rs2472493 in the ABCA1 gene can be considered a genetic susceptibility locus for POAG. The haplotype constructed with ABCA1 gene SNPs (rs2472493/rs2487032) is associated with POAG.
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Moradi, Saba, Heidar Tavilani, Massoud Saidijam, Mohammad Hashemnia та Asad Vaisi-Raygani. "Kiwifruit supplementation increases the gene expression of ATP-binding cassette transporter A1 and Liver X receptor α in liver and intestine of hamsters fed with high-fat diet". Mediterranean Journal of Nutrition and Metabolism 14, № 4 (2021): 343–52. http://dx.doi.org/10.3233/mnm-200467.

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BACKGROUND: Liver X receptor α (LXRα) and ATP-binding cassette transporter A1 (ABCA1) as a lipid transporter play an important role in cholesterol efflux from cells. OBJECTIVE: This study was aimed to determine the effect of kiwifruit supplementation on LXRα and ABCA1 gene expressions in liver and intestine of hamsters fed with high-fat diet (HFD). METHODS: 36 Golden Syrian male hamsters were divided into 6 groups (n = 6) including, group 1 received chow diet (control normal), group 2 and 3 received chow diet plus 1.86 and 3.73 g/kg kiwifruit, group 4 received HFD, group 5 and 6 received HFD plus 1.86 and 3.73 g/kg kiwifruit for 8 weeks. RESULTS: ABCA1 gene expression were significantly decreased in the liver (p &lt; 0.01) and the intestine (p &lt; 0.05) of HFD group compared with control normal. The gene expression levels of ABCA1 from liver and intestine were increased in HFD treated with kiwifruit compare to untreated HFD group (p &lt; 0.05). LXRα gene expression of intestine was increased in all of the kiwifruit treated groups compared with untreated groups (p &lt; 0.05). CONCLUSIONS: Consumption of kiwifruit in in hamsters receiving HFD can improve cholesterol efflux from liver and intestine by increase the gene expression of ABCA1 and LXRα.
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