Relevant bibliographies by topics / ABCA12 gene

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'ABCA12 gene'

Author: Grafiati
Published: 5 June 2025
Last updated: 16 July 2025

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Journal articles on the topic "ABCA12 gene"

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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
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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
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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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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 prot
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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 mut
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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 pasie
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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
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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.
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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 perawa
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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 It
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Dissertations / Theses on the topic "ABCA12 gene"

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Rodrigues, Lucas Campos de Sá. "Estudo da expressão dos genes de resistência a múltiplas drogas ABCB1, ABCC1 e ABCG2, em cães com linfoma multicêntrico, submetidos a três diferentes protocolos de tratamento antineoplásico." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/10/10136/tde-08102012-141346/.

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Um dos principais desafios no tratamento quimioterápico em seres humanos e animais é a resistência que as células neoplásicas apresentam, sendo esse mecanismo responsável por falhas no tratamento e recidivas da doença. A resistência pode ser intrínseca ou adquirida e ocorre em função da expressão de transportadores de membrana ABC, como a glicoproteína P (ABCB1/MDR), proteínas de resistência a múltiplas drogas (ABCC1/MRP) e proteína de resistência do câncer de mama (ABCG2/BCRP). O linfoma é a neoplasia hematopoiética mais comum em cães, altamente responsiva à quimioterapia, mas que recidiva du
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Teixeira, Mayza Dalcin. "Estudo da associação de polimorfismos dos genes FTO, ABCA1, ABCA7 e ABCG1 com marcadores de obesidade e perfil lipídico em mulheres obesas." reponame:Repositório Institucional da UFPR, 2017. http://hdl.handle.net/1884/47563.

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Orientadora : Profª. Drª. Lupe Furtado-Alle<br>Coorientadora : Drª Luciane Viater Tureck<br>Dissertação (mestrado) - Universidade Federal do Paraná, Setor de Ciências Biológicas, Programa de Pós-Graduação em Genética. Defesa: Curitiba, 31/03/2017<br>Inclui referências : f. 85-88<br>Resumo: A maioria dos casos de obesidade e de dislipidemias possui origem complexa, pois é resultante da interação entre fatores genéticos e ambientais. Diversos genes têm sido relacionados com a susceptibilidade a estas doenças, incluindo variantes alélicas dos genes FTO, ABCA1, ABCA7 e ABCG1. Desse modo, o objetiv
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Nascimento, Gabrielle Araújo do. "Avaliação do efeito de polimorfismos nos genes FTO, ABCA1, ABCA7 e ABCG1 sobre indicadores de obesidade e dislipidemias em crianças e adolescentes submetidos a treinamentos físico." reponame:Repositório Institucional da UFPR, 2017. http://hdl.handle.net/1884/47393.

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Orientadora : Profª Drª Luciane Viater Tureck<br>Coorientadora : Profª Drª Lupe Furtado Alle<br>Dissertação (mestrado) - Universidade Federal do Paraná, Setor de Ciências Biológicas, Programa de Pós-Graduação em Genética. Defesa: Curitiba, 27/03/2017<br>Inclui referências<br>Resumo: A obesidade e as dislipidemias geralmente estão associadas, e na maior parte dos casos possuem origem complexa, sendo decorrentes da interação entre os fatores ambientais e fatores genéticos. Dentre os fatores genéticos já conhecidos encontram-se genes relacionados ao metabolismo, como o gene FTO (Fat Mass and Obes
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Zago, Vanessa Helena de Souza 1984. "Estudo molecular dos genes ABCA1, ABCG1, ABCG5, ABCG8 e SCARB1 em amostra populacional brasileira assintomática." [s.n.], 2015. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312594.

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Orientadores: Eliana Cotta de Faria, Helena Coutinho Franco de Oliveira, Daniel Zanetti Scherrer<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-26T20:49:38Z (GMT). No. of bitstreams: 1 Zago_VanessaHelenadeSouza_D.pdf: 5059555 bytes, checksum: 854d9d1d1674a14d2ebcf5798acc31b3 (MD5) Previous issue date: 2015<br>Resumo: Dado o importante papel desempenhado pelos transportadores ATP binding cassete A1 (ABCA1), G1 (ABCG1), G5 (ABCG5), G8 (ABCG8) e pelo scavenger receptor class B type I (SR-BI) para a homeostase corpóre
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Knight, Helen Miranda. "Candidate gene studies in psychiatric illness." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/6508.

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Schizophrenia, bipolar disorder and major depression are common, heritable neuropsychiatric conditions and yet the source of the inherited risk remains largely unknown. This thesis focuses on two complementary strategies for identifying and characterising the genetic component of these illnesses: homozygosity mapping in consanguineous pedigrees, and genetic and neurobiological investigations of candidate genes identified by the analysis of structural chromosomal abnormalities carried by patients with psychiatric diagnoses. In a family of a cousin marriage, five of six offspring presented with
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Moraes, Ana Carolina Rabello de. "Estudo da associação de genes e proteínas de resistência a múltiplos fármacos (abcb1/ABCB1, abcc1/ABCC1 e lrp/LRP) com marcadores moleculares em pacientes portadores de leucemias agudas." reponame:Repositório Institucional da UFSC, 2013. https://repositorio.ufsc.br/handle/123456789/107623.

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Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Farmácia, Florianópolis, 2013.<br>Made available in DSpace on 2013-12-06T00:39:31Z (GMT). No. of bitstreams: 1 319055.pdf: 3105190 bytes, checksum: f462b93c678d315794c7ff809ddb0b6c (MD5) Previous issue date: 2013<br>Menos de 45% dos portadores de leucemias agudas (LAs) sobrevivem cinco anos após o diagnóstico. O insucesso no tratamento relaciona-se, principalmente, à resistência à quimioterapia. O mecanismo mais comumente implicado na resistência a múltiplos fármacos (MDR) é a
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Wieland, Felix [Verfasser], Katja [Akademischer Betreuer] Kobow, and Ingmar [Gutachter] Blümcke. "Epigenetic gene regulation of ABCB1 and ABCG2 in human temporal lobe epilepsy / Felix Wieland ; Gutachter: Ingmar Blümcke ; Betreuer: Katja Kobow." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2020. http://d-nb.info/1219303402/34.

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Genvigir, Fabiana Dalla Vecchia. "Estudo da expressão gênica e de polimorfismos do gene ABCA1 em indivíduos sob terapia hipolipemiante." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/9/9136/tde-17042008-151909/.

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A ATP-binding cassette transporter A1 (ABCA1) é uma proteína transmembrana responsável pelo efluxo celular de colesterol e fosfolipídeos, que é um passo essencial para o transporte reverso do colesterol e para a biogênese da HDL. Polimorfismos do gene ABCA1 foram associados com risco de doença arterial coronariana, variações no perfil lipídico e diferenças na resposta a fármacos hipolipemiantes. Com a finalidade de avaliar os efeitos de polimorfismos do ABCA1 sobre a expressão gênica e a resposta a vastatinas, foram selecionados indivíduos normolipidemicos (NL, n=143) e hipercolesterolêmicos (
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Probst, Mario C. O. "Development and evaluation of multiplex and high-throughput SNP analysis for the ABCA1 gene." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=970904533.

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Nogueira, Fabiana Goes. "Estudo da associação de polimorfismos no gene ABCA1 e a doença renal do diabetes." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2015. http://hdl.handle.net/10183/129672.

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Introdução A doença renal do diabetes (DRD) é a principal complicação clínica do Diabetes Mellitus tipo 1 e 2 (DM1 e DM2). A relação entre o dano renal e os lipídios tem sido investigada há décadas e as evidências demonstram que o acúmulo de lipídios intra renal está associado com o desenvolvimento de glomerulosclerose, fibrose túbulo intersticial e progressão da DRD. Além disso, os fatores genéticos ampliam o risco para o desenvolvimento da DRD. Evidências sugerem que o gene ATP-binding cassette transporter A1 (ABCA1) possa estar envolvido nos danos causados pelo acúmulo do colesterol intrace
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Books on the topic "ABCA12 gene"

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Merriman, Tony R. The genetic basis of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199668847.003.0040.

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An individual’s risk of gout is determined by a complex relationship between inherited genetic variants and environmental exposures. Genetic variants that control hyperuricaemia and subsequent progression to clinical gout specify pathogenic pathways that could be therapeutically targeted. Genome-wide association studies (GWAS) have provided novel insights into the pathways leading to hyperuricaemia. GWAS have identified the renal uric acid transporter SLC2A9/GLUT9 and the gut excretory molecule ABCG2, which each have very strong genetic effects in the control of urate levels and risk of gout.
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Nawawi, Hapizah, Thuhairah Abdul Rahman, and Wan Nor Hanis Wan Ahmad. Biomarkers of Endothelial Activation and Atp-Binding Casette Transporter A1 (abca1) Gene Variants in Subjects with Low Hdl-c Concentration. Independently Published, 2019.

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Ng, Dominic S. Tangier Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0035.

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Tangier disease is characterized by profound high-density lipoprotein (HDL) deficiency in association with accumulation of cholesterol esters in tissues, especially those of the reticuloendothelial system. Clinical signs include hyperplastic, yellow-orange colored tonsils, peripheral neuropathies, and hepatosplenomegaly. The disease is caused by two mutant alleles of the ABCA1 gene encoding ATP-binding cassette subfamily A member 1. Despite severe HDL deficiency, predisposition to accelerated coronary heart disease is highly variable in affected individuals. With the exception of tonsillectomy
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Dalbeth, Nicola. Clinical features of gout. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198748311.003.0005.

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About 60% of the variance in serum urate levels can be explained by inherited genetic factors, but the extent of the contribution of genetic factors to gout in the presence of hyperuricaemia is not known. Genome-wide association studies in Europeans have identified 28 loci controlling serum urate levels, although the molecular basis of the majority of these genetic associations is currently unknown. The SLC2A9 and ABCG2 renal and gut uric acid transporters have very strong effects on urate levels and the risk of gout. Other uric acid transporters (e.g. SLC22A11/OAT478, SLC22A12/URAT1) and a gl
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van Geel, Björn M., Marc Engelen, and Stephan Kemp. X-linked Adrenoleukodystrophy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0061.

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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several
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Bennett, Bob, ed. The Baseball Drill Book. Human Kinetics, 2004. http://dx.doi.org/10.5040/9781718218697.

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Seventeen of the game's top collegiate coaches have teamed up with the American Baseball Coaches Association (ABCA) to bring you the game's most comprehensive assortment of practice activities. The Baseball Drill Book features 198 drills proven to improve individual and team performance. Former Fresno State coach Bob Bennett, Ripon College's Gordie Gillespie, Lewis-Clark State's Ed Cheff, Wichita State's Gene Stephenson, and South Carolina's Ray Tanner are among the greats who present their best practice drills and insights for improving these skills: -Conditioning and warm-up -Throwing and ca
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Book chapters on the topic "ABCA12 gene"

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Zahid, Sarwar, Kari Branham, Dana Schlegel, et al. "ABCA4." In Retinal Dystrophy Gene Atlas. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-10867-4_1.

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Han, Zongchao, Shannon M. Conley, and Muna I. Naash. "Gene Therapy for Stargardt Disease Associated with ABCA4 Gene." In Retinal Degenerative Diseases. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-3209-8_90.

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Lage, Hermann. "Gene Therapeutic Approaches to Overcome ABCB1-Mediated Drug Resistance." In Recent Results in Cancer Research. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-42934-2_6.

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Weinhofer, Isabelle, Sonja Forss-Petter, Mihaela Zigman, and Johannes Berger. "Cholesterol regulates ABCD2 Gene Expression: implications for X-linked Adrenoleukodstrophy." In Advances in Experimental Medicine and Biology. Springer US, 2003. http://dx.doi.org/10.1007/978-1-4419-9072-3_43.

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Gueugnon, Fabien, Fabrice Lambert, Catherine Gondcaille, et al. "Dehydroepiandrosterone Induction of the Abcd2 and Abcd3 Genes encoding peroxisomal ABC Transporters." In Advances in Experimental Medicine and Biology. Springer US, 2003. http://dx.doi.org/10.1007/978-1-4419-9072-3_31.

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Morita, Masashi, Junpei Kobayashi, Kozue Yamazaki, et al. "A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein." In JIMD Reports. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/8904_2012_209.

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Morita, Masashi, Ayako Honda, Akira Kobayashi, et al. "Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice." In JIMD Reports. Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_32.

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Hofereiter, Johann, Matthew D. Smith, Jai Seth, et al. "Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy." In JIMD Reports. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_414.

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Jonsson, Frida, Marie S. Burstedt, Ola Sandgren, Anna Norberg, and Irina Golovleva. "Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes." In Retinal Degenerative Diseases. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-3209-8_23.

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Tan, X., X. Wang, C. Di, L. Yang, and S. Guo. "ABCA1 is another ABC sub-family gene which contributes to arsenic efflux besides ABCB1 and ABCC1." In Arsenic in the Environment - Proceedings. CRC Press, 2014. http://dx.doi.org/10.1201/b16767-231.

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Conference papers on the topic "ABCA12 gene"

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SOUZA, M. F. D., H. L. S. NETA, H. A. MARIZ, et al. "AVALIAÇÃO DA EXPRESSÃO DOS GENES ABCB1, ABCC1, ABCG2 EM PACIENTES COM LÚPUS ERITEMATOSOSISTÊMICO." In ANAIS DO 5º ENCONTRO BRASILEIRO PARA INOVAçãO TERAPêUTICA. Galoa, 2017. http://dx.doi.org/10.17648/ebit-2017-85731.

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Campos, Leticia, Nathália Almeida, Marcia Pires, et al. "Evaluation of mutations in ABCB1 and ABCB11 genes by qPCR and their impact on the clinical evolution of hepatitis C." In International Symposium on Immunobiologicals. Instituto de Tecnologia em Imunobiológicos, 2023. http://dx.doi.org/10.35259/isi.2023_57997.

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Campo, Ilaria, Zamir Kadija, Michele Zorzetto, et al. "Familial Interstitial Lung Disease And ABCA3 Gene GLY964ASP Mutation." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a6006.

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Vaclavikova, R., SH Nordgard, GA Alnaes, et al. "The role of ABCB1 transporter gene in breast cancer resistance." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-4158.

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Stiburkova, B., K. Pavelcova, L. Petru, P. Cepek, J. Zavada, and K. Pavelka. "OP0297 Functional polymorphisms of the ABCG2 gene in primary gout." In Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.4901.

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Stiburkova, Blanka, Katerina Pavelcova, Lenka Petru, Pavel Cepek, Jakub Zavada, and Karel Pavelka. "05.04 Functional polymorphisms of the abcg2 gene in primary gout." In 37th European Workshop for Rheumatology Research 2–4 March 2017 Athens, Greece. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2016-211052.4.

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Mikhalenka, Alena, V. M. Malyshava, M. V. Artsiusheuskaya, A. V. Kilchevsky, and G. A. Shyshko. "ABCA3 gene mutations in 2 premature infants with respiratory distress syndrome." In XIth International Congress of Geneticists and Breeders from the Republic of Moldova. Scientific Association of Geneticists and Breeders of the Republic of Moldova, Institute of Genetics, Physiology and Plant Protection, Moldova State University, 2021. http://dx.doi.org/10.53040/cga11.2021.039.

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Polat, Zeliha Basak, Gülay Bilgin, Sinem Can Oksay, Deniz Mavi Tortop, Zeynep Reyhan Onay, and Saniye Girit. "Rare ABCA3 Gene Mutation: Clinical Presentation and Treatment in Infancy and Childhood." In ERS Congress 2024 abstracts. European Respiratory Society, 2024. http://dx.doi.org/10.1183/13993003.congress-2024.pa2259.

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Kronski, Emanuel, Cristina M. Iancu, Peter Killian, et al. "Abstract 3539: Overexpression of the ATP Binding Cassette Gene ABCA1 determines resistance to curcumin in M14 melanoma cells." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-3539.

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Edlira, Xhemo, Fajac Anne, Boire Jean-Yves, and P. Levy Pierre. "MDRView: a visualization of the polymorphisms of MDR1(ABCB1) GENE in breast cancer." In 2007 29th Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 2007. http://dx.doi.org/10.1109/iembs.2007.4353362.

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Reports on the topic "ABCA12 gene"

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Weller, Joel I., Harris A. Lewin, and Micha Ron. Determination of Allele Frequencies for Quantitative Trait Loci in Commercial Animal Populations. United States Department of Agriculture, 2005. http://dx.doi.org/10.32747/2005.7586473.bard.

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Abstract:
Individual loci affecting economic traits in dairy cattle (ETL) have been detected via linkage to genetic markers by application of the granddaughter design in the US population and the daughter design in the Israeli population. From these analyses it is not possible to determine allelic frequencies in the population at large, or whether the same alleles are segregating in different families. We proposed to answer this question by application of the "modified granddaughter design", in which granddaughters with a common maternal grandsire are both genotyped and analyzed for the economic traits.
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