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Journal articles on the topic 'Autosomal dominant variation in globin genes'

Author: Grafiati

Published: 7 June 2025

Last updated: 2 August 2025

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1

Srinivas, G., D.V. Ramanjaneyulu, E. Muralinath, et al. "An Important Parameters of Methemoglobinemia Include Symptoms, Clinical Management and Treatment." Research & Reviews: Journal of Community Health Nursing 1, no. 1 (2025): 1–11. https://doi.org/10.5281/zenodo.14676797.

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<em>Ferri-iron of methemoglobin (MetHb) is a rare disorder associated with the oxidation of divalent ferro-iron of hemoglobin (Hb). Both acquired and hereditary processes can result from methemoglobinemia. The most prevalent types are acquired ones, primarily as a result of exposure to chemicals that directly or indirectly oxidize Hb. Inherited forms are due either to autosomal recessive variants in the CYB5R3 gene or to autosomal dominant variants in the globin genes, collectively </em><em>termed as HbM disease. </em>

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Srinivas, G., D.V. Ramanjaneyulu, E. Muralinath, et al. "Specific Parameters of Methemoglobinemia are Hereditary that is Enzyme Deficiency as well as Acquired Methemoglobinemia, Diagnosis and Differential Diagnosis." Research and Reviews: Journal of Dermatology Nursing 2, no. 1 (2025): 16–25. https://doi.org/10.5281/zenodo.14636415.

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<em>An uncommon condition known as methemoglobinemia is caused by the oxidation of divalent ferro-iron of hemoglobin (Hb) to ferri-iron of methemoglobin (MetHb). Methemoglobinemia may result in acquired or inherited mechanisms. The most prevalent types are acquired, primarily as a result of exposure to chemicals that directly or indirectly oxidize yellow blood cells. Inherited forms, known as HbM sickness, are caused by autosomal dominant mutations in the globin genes or autosomal recessive variants in the CYB5R3 gene. Our recommendations are </em><em>dependent upon a systematic literature sea

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Gooding, R. H. "Genetic variation in arthropod vectors of disease-causing organisms: obstacles and opportunities." Clinical Microbiology Reviews 9, no. 3 (1996): 301–20. http://dx.doi.org/10.1128/cmr.9.3.301.

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An overview of the genetic variation in arthropods that transmit pathogens to vertebrates is presented, emphasizing the genetics of vector-pathogen relationships and the biochemical genetics of vectors. Vector-pathogen interactions are reviewed briefly as a prelude to a discussion of the genetics of susceptibility and refractoriness in vectors. Susceptibility to pathogens is controlled by maternally inherited factors, sex-linked dominant alleles, and dominant and recessive autosomal genes. There is widespread interpopulation (including intercolony) and temporal variation in susceptibility to p

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Järvelä, Irma, Tuomo Määttä, Anushree Acharya, et al. "Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland." Human Genetics 140, no. 7 (2021): 1011–29. http://dx.doi.org/10.1007/s00439-021-02268-1.

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AbstractThe genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de n

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Chu, Kang, Daniel L. Koller, Richard Snyder, et al. "Analysis of variation in expression of autosomal dominant osteopetrosis type 2: Searching for modifier genes." Bone 37, no. 5 (2005): 655–61. http://dx.doi.org/10.1016/j.bone.2005.06.003.

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Lojo-Kadric, Naida, Zelija Velija Asimi, Jasmin Ramic, Ksenija Radic, and Lejla Pojskic. "Copy number variation in MODY diabetes - Familial case presentation." Genetics & Applications 2, no. 2 (2018): 73. http://dx.doi.org/10.31383/ga.vol2iss2pp73-77.

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MODY (maturity-onset diabetes of the young) is an autosomal dominant form of diabetes that is usually manifested before the 25-year of life. This type of diabetes is caused by defects in the primary insulin secretion. There are several types of MODY, which are monogenic diseases, where mutations in a single gene are responsible for a particular type of MODY. Currently, there are eleven types of MODY, from which the most common types are MODY 2 and MODY 3 (with mutations on GCK and HNF1A genes, respectively). We identified very rare MODY 7 type of diabetes in three family members by MLPA analys

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Balicza, Peter, Renata Bencsik, Andras Lengyel, et al. "Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability." Neurology Genetics 6, no. 5 (2020): e515. http://dx.doi.org/10.1212/nxg.0000000000000515.

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ObjectiveOur aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity.MethodsTargeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-associated genes were performed in many affected and unaffected members of the family. In addition, a trio whole-genome sequencing was performed to find a potential explanation of phenotypic variability. Neuropathologic analysis was performed in a single affected family member.ResultsThe clinical phenotype w

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Lanktree, Matthew B., Amirreza Haghighi, Elsa Guiard, et al. "Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing." Journal of the American Society of Nephrology 29, no. 10 (2018): 2593–600. http://dx.doi.org/10.1681/asn.2018050493.

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BackgroundEstimating the prevalence of autosomal dominant polycystic kidney disease (ADPKD) is challenging because of age-dependent penetrance and incomplete clinical ascertainment. Early studies estimated the lifetime risk of ADPKD to be about one per 1000 in the general population, whereas recent epidemiologic studies report a point prevalence of three to five cases per 10,000 in the general population.MethodsTo measure the frequency of high-confidence mutations presumed to be causative in ADPKD and autosomal dominant polycystic liver disease (ADPLD) and estimate lifetime ADPKD prevalence, w

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Doğan, Mustafa, Mehmet Koksal, and Recep Eroz. "Heterozygous c.1730G > C (p.Trp577Ser) variation in a case with familial hypercholesterolemia." Acta Facultatis Medicae Naissensis 39, no. 4 (2022): 496–501. http://dx.doi.org/10.5937/afmnai39-35609.

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Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with a very rare heterozygous c.1730G > C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore

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Bennett, Caitlin A., Slavé Petrovski, Karen L. Oliver, and Samuel F. Berkovic. "ExACtly zero or once." Neurology Genetics 3, no. 4 (2017): e163. http://dx.doi.org/10.1212/nxg.0000000000000163.

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Objective:To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population.Methods:We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals. We subsequently evaluated variants in these epilepsy genes that lacked strong segregat

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Clay-Gilmour, Alyssa, Julia Cooper, Junke Wang, et al. "Pathogenic and likely pathogenic germline variation in patients with myeloid malignancies and their unrelated HLA-matched hematopoietic stem cell donors." Journal of Translational Genetics and Genomics 8, no. 1 (2024): 35–48. http://dx.doi.org/10.20517/jtgg.2023.31.

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Aims: The revised 2022 World Health Organization classification recognizes myeloid neoplasms with associated germline predisposition as a defined subcategory, underscoring the clinical significance of likely pathogenic (LPV) and pathogenic (PV) germline variation in these diseases. To better understand the role of LPV/PV in blood or marrow transplants (BMT), a curative therapy for myeloid neoplasms, we measure their frequency and association with mortality in two cohorts of donor-recipient pairs. Methods: LPV/PV frequencies in 665 cancer-related genes were measured using exomechip genotyping d

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Wang, Zhi, Xiao-Hui Qiao, Ying-Jia Xu, et al. "SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease." BioMed Research International 2022 (March 3, 2022): 1–8. http://dx.doi.org/10.1155/2022/9916325.

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As the most common form of developmental malformation affecting the heart and endothoracic great vessels, congenital heart disease (CHD) confers substantial morbidity and mortality as well as socioeconomic burden on humans globally. Aggregating convincing evidence highlights the genetic origin of CHD, and damaging variations in over 100 genes have been implicated with CHD. Nevertheless, the genetic basis underpinning CHD remains largely elusive. In this study, via whole-exosome sequencing analysis of a four-generation family inflicted with autosomal-dominant CHD, a heterozygous SMAD1 variation

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Tanner, Alexander, Hwei Wuen Chan, Elena Schiff, Omar M. Mahroo, and Jose S. Pulido. "Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes." BMJ Open Ophthalmology 7, no. 1 (2022): e001079. http://dx.doi.org/10.1136/bmjophth-2022-001079.

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BackgroundLarge databases permit quantitative description of genes in terms of intolerance to loss of function (‘haploinsufficiency’) and prevalence of missense variants. We explored these parameters in inherited retinal disease (IRD) genes.MethodsIRD genes (from the ‘RetNet’ resource) were classified by probability of loss of function intolerance (pLI) using online Genome Aggregation Database (gnomAD) and DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) databases. Genes were identified having pLI ≥0.9 together with one or both of the following: upper bo

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Iarossi, Giancarlo, Matteo Bertelli, Paolo Enrico Maltese, et al. "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy." Journal of Ophthalmology 2017 (2017): 1–10. http://dx.doi.org/10.1155/2017/3080245.

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Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7–19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands po

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Yang, Kai, Ming Shen, Yousheng Yan, et al. "Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing." BioMed Research International 2019 (May 14, 2019): 1–8. http://dx.doi.org/10.1155/2019/2492590.

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Skeletal dysplasias (SDs) comprise a series of severe congenital disorders that have strong clinical heterogeneity and usually attribute to diverse genetic variations. The pathogenesis of more than half of SDs remains unclear. Additionally, the clinical manifestations of fetal SDs are ambiguous, which poses a big challenge for accurate diagnosis. In this study, eight unrelated families with fetal SD were recruited and subjected to sequential tests including chromosomal karyotyping, chromosomal microarray analysis (CMA), and trio whole-exome sequencing (WES). Sanger sequencing and quantitative

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Kutlar, Ferdane, Lee Hilliard, Lina Zhuang, Niren Patel та Abdullah Kutlar. "Hb Dothan [β25/26 (B7/B8)/(-GTG/-GLY)/Gly+Glu→Glu]; A Novel Mechanism Leading to a M-Hemoglobin." Blood 112, № 11 (2008): 1440. http://dx.doi.org/10.1182/blood.v112.11.1440.1440.

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Abstract Hereditary methemoglobinemia is a relatively rare disorder usually manifesting with cyanosis at birth. The more common form results from the deficiency of the enzyme, NADH-Cytochrome b5 reductase (methemoglobin reductase, diaphorase) and displays an autosomal recessive inheritance pattern. Less common are the so-called M-hemoglobins with an autosomal dominant pattern, which result from amino acid substitutions in the heme binding pocket of α, β, or less commonly γ-globin chains. The majority of the M-hemoglobin (Hb) variants occur from substitutions in the E or F-helices, which consti

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Perea-Romero, I., L. Fernández-Caballero, I. F. Iancu, et al. "Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study." ANALES RANM 139, no. 139(03) (2023): 274–84. http://dx.doi.org/10.32440/ar.2022.139.03.rev08.

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Inherited Retinal Dystrophies (IRDs) are a group of rare diseases with a prevalence of 1:3000-4000 people. They are genetic, primarily affecting retinal photoreceptors and epithelial pigmentary cells, and lead to neurodegeneration and finally apoptosis. In 2021, we published our global results obtained in our registry at the Fundación Jiménez Díaz University Hospital (Madrid, Spain) from 1991 to August 2019. Now, we aimed to update these results until August 2022. Thus, we conducted a retrospective hospital-based cross-sectional study on 4.794 IRD-affected unrelated families from all the Spani

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BR, Sindhu, Mahesh Hirulal, and Raghavi Rajan BR. "ASHTA NINDITA PURUSHA WITH SPECIAL RESPECT TO GENETICS IN AYURVEDA: AN OVERVIEW." International Ayurvedic Medical Journal 12, no. 08 (2024): 1466–70. http://dx.doi.org/10.46607/iamj0812082024.

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Genetics is the study of genes, genetic variation and heredity in organisms. In classics, hereditary disorders are referred to as Adibala Pravrutta Vikara, Sahaja Vikara, Bija Bijabhagaavayava Dushti Vikara, even the Ashta Nindita can be taken, as one among the Nidana mentioned is Bija Svabhavat. Ashta Nindita Purusha is a concept that explains extremely undesirable characteristics: Atideergha, Atihrasva, Atisthula, Atikrusha, Atigaura, Atikrushna, Atiloma, Aloma1 . In human beings, half of the chromosomes come from maternal and half from paternal chromosomes or genes, similar to Matrija (mate

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Büki, Gergely, Anna Bekő, Csaba Bödör, et al. "Identification of an NF1 Microdeletion with Optical Genome Mapping." International Journal of Molecular Sciences 24, no. 17 (2023): 13580. http://dx.doi.org/10.3390/ijms241713580.

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Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its flanking regions. Microdeletions, which lead to more severe clinical manifestations, can be subclassified into four different types (type 1, 2, 3 and atypical) according to their size, the genomic location of the breakpoints and the number of genes included within the deletion. Besides the prominent hallmarks of NF1, patients with NF1 microdeletions frequently exhibit specifi

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Majdalani, Pierre, Uri Yoel, Tayseer Nasasra, et al. "Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred." International Journal of Molecular Sciences 24, no. 9 (2023): 8233. http://dx.doi.org/10.3390/ijms24098233.

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Familial non-medullary thyroid cancer (FNMTC) is a well-differentiated thyroid cancer (DTC) of follicular cell origin in two or more first-degree relatives. Patients typically demonstrate an autosomal dominant inheritance pattern with incomplete penetrance. While known genes and chromosomal loci account for some FNMTC, the molecular basis for most FNMTC remains elusive. To identify the variation(s) causing FNMTC in an extended consanguineous family consisting of 16 papillary thyroid carcinoma (PTC) cases, we performed whole exome sequence (WES) analysis of six family patients. We demonstrated

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Nebor, Danitza, Raymond F. Robledo, Aleena Arakaki, Lionel Blanc та Luanne L. Peters. "Mechanisms Regulating Increased Embryonic βh1 Globin Expression in Adult Nan anemic Mice". Blood 124, № 21 (2014): 742. http://dx.doi.org/10.1182/blood.v124.21.742.742.

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Abstract Sickle Cell Disease affects 90-100,000 in the US including 1/500 African-Americans born each year. Elevation of fetal hemoglobin (HbF) by co-inheritance of positive genetic modifiers of HbF expression or hydroxyurea (HU) treatment ameliorates disease severity. Because HU can have significant side effects, novel therapies aimed at elevating postnatal HbF expression are actively being sought. Three major loci modify HbF expression. Together, they account for ~50% of the variation in HbF expression, indicating that additional modifiers exist. Previously, we described the semi-dominant in

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Hsueh, Hsueh Wen, Hsiao-Jung Kao, Chi-Chao Chao, et al. "Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease." Neurology Genetics 9, no. 4 (2023): e200078. http://dx.doi.org/10.1212/nxg.0000000000200078.

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Background and ObjectivesCharcot-Marie-Tooth disease (CMT) is a syndrome of a hereditary neurodegenerative condition affecting the peripheral nervous system and is a single gene disorder. Deep phenotyping coupled with advanced genetic techniques is critical in discovering new genetic defects of rare genetic disorders such as CMT.MethodsWe applied multidisciplinary investigations to examine the neurophysiology and nerve pathology in a family that fulfilled the diagnosis of CMT2. When phenotype-guided first-tier genetic tests and whole-exome sequencing did not yield a molecular diagnosis, we con

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Cebeci, Ayşe Nurcan, Minjing Zou, Huda A. BinEssa, et al. "Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets." Journal of Clinical Endocrinology & Metabolism 105, no. 6 (2019): 1840–50. http://dx.doi.org/10.1210/clinem/dgz260.

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Abstract Context Hypophosphatemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC9A3R1, SLC34A1, or SLC34A3. Objective A large kindred with 5 HR patients was recruited with dominant inheritance. The study was undertaken to investigate underlying genetic defects in HR patients. Design Patients and their family members were initially analyzed for PHEX and FGF23 mutations using polymerase chain reaction sequencing and copy number analysis. Exome sequencing was subsequently performed to identify novel candidat

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Liu, Xiao-Wen, Su-Yang Wang, Zhan-Kui Xing, et al. "Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2." Journal of International Medical Research 48, no. 11 (2020): 030006052096754. http://dx.doi.org/10.1177/0300060520967540.

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Objective Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. Methods We recruited a three-generation family with three affected members. Medical history was obtained from all family members who underwent detailed physical examinations and audiology tests. Genomic DNA was extracted from peripheral blood of each individual, and 139 candidate genes associated with hearing

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Niewisch, Marena R., Jung Kim, Judith C. Lunger, Lisa J. McReynolds, and Sharon A. Savage. "Abstract 4108: Understanding the role of telomere biology gene variation in cancer etiology." Cancer Research 82, no. 12_Supplement (2022): 4108. http://dx.doi.org/10.1158/1538-7445.am2022-4108.

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Abstract Telomere biology disorders (TBDs) are cancer-prone syndromes associated with increased risk of acute myeloid leukemia (AML), head and neck squamous cell carcinoma (HNSCC), bone marrow failure, pulmonary fibrosis, and liver disease. Germline variants in at least 15 different telomere biology genes have been implicated (ACD, CTC1, TERT, TERC, STN1, NAF1, NOP10, NHP2, TINF2, RTEL1, PARN, ZCCHC8, DKC1, WRAP53, POT1) with autosomal dominant (AD), autosomal recessive (AR), or X-linked (XLR) inheritance as well as de novo occurrence. We hypothesize that TBDs may be more common than the curre

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Concolino, Paola, Linda Tartaglione, Elisa De Paolis, et al. "A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing." Genes 13, no. 11 (2022): 2104. http://dx.doi.org/10.3390/genes13112104.

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Maturity-onset diabetes of the young (MODY) is a rare form of non-autoimmune diabetes with an autosomal dominant inheritance. To date, 14 genes have been reported as genetic basis of MODY. GCK gene, encoding the glucokinase enzyme, was the first MODY gene to be identified. GCK heterozygous inactivating variants cause the GCK-MODY or MODY2 subtype. However, partial or whole gene deletions have been rarely identified, showing it to be a rare cause of GCK-MODY. We reported the molecular evaluation of a Ukrainian patient with clinical diagnosis of MODY2. We performed the Next generation sequencing

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Lindner, Andrea Katharina, Gert Schachtner, Gennadi Tulchiner, et al. "Lynch Syndrome: Its Impact on Urothelial Carcinoma." International Journal of Molecular Sciences 22, no. 2 (2021): 531. http://dx.doi.org/10.3390/ijms22020531.

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Lynch syndrome, known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal-dominant familial cancer syndrome with an increased risk for urothelial cancer (UC). Mismatch repair (MMR) deficiency, due to pathogenic variants in MLH1, MSH2, MSH6, and PMS2, and microsatellite instability, are known for development of Lynch syndrome (LS) associated carcinogenesis. UC is the third most common cancer type in LS-associated tumors. The diversity of germline variants in the affected MMR genes and their following subsequent function loss might be responsible for the variation in cancer ris

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Lindner, Andrea Katharina, Gert Schachtner, Gennadi Tulchiner, et al. "Lynch Syndrome: Its Impact on Urothelial Carcinoma." International Journal of Molecular Sciences 22, no. 2 (2021): 531. http://dx.doi.org/10.3390/ijms22020531.

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Lynch syndrome, known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal-dominant familial cancer syndrome with an increased risk for urothelial cancer (UC). Mismatch repair (MMR) deficiency, due to pathogenic variants in MLH1, MSH2, MSH6, and PMS2, and microsatellite instability, are known for development of Lynch syndrome (LS) associated carcinogenesis. UC is the third most common cancer type in LS-associated tumors. The diversity of germline variants in the affected MMR genes and their following subsequent function loss might be responsible for the variation in cancer ris

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Paterson, Andrew D., Johanna M. Rommens, Bhupinder Bharaj, et al. "Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene." Blood 115, no. 6 (2010): 1264–66. http://dx.doi.org/10.1182/blood-2009-07-233965.

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Abstract Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder linked to a region on chromosome 10 that includes PLAU, the urokinase plasminogen activator gene. QPD increases urokinase plasminogen activator mRNA levels, particularly during megakaryocyte differentiation, without altering expression of flanking genes. Because PLAU sequence changes were excluded as the cause of this bleeding disorder, we investigated whether the QPD mutation involved PLAU copy number variation. All 38 subjects with QPD had a direct tandem duplication of a 78-kb genomic segment that includes PL

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Ahmad, Syed Abrar, Chandrakant Chavan, Rajesh Badani, and Varsha Wankhade. "Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population." Cellular and Molecular Biology 67, no. 6 (2022): 1–10. http://dx.doi.org/10.14715/cmb/2021.67.6.1.

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HCM is a monogenic cardiac disorder with a high risk of sudden cardiac death, heterogeneous phenotypic expression and genetic profile. HCM is expressed as autosomal dominant in fashion with the prevalence of 1:500 in the general population. The main objective of the current study was to unravel the mutation status in sarcomeric genes in urbanizing Pune population. HCM patients were recruited from Bharti hospital and Poona hospital and research centre, Pune after being screened by 2-D echocardiography. DNA was extracted from whole blood samples and PCR amplification was performed for selected e

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Perić, Stojan, Vladana Marković, Ayşe Candayan, et al. "Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia." Cells 11, no. 18 (2022): 2804. http://dx.doi.org/10.3390/cells11182804.

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Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. A copy number variation (CNV

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Hafezi, Yassi, Samantha R. Sruba, Steven R. Tarrash, Mariana F. Wolfner, and Andrew G. Clark. "Dissecting Fertility Functions of Drosophila Y Chromosome Genes with CRISPR." Genetics 214, no. 4 (2020): 977–90. http://dx.doi.org/10.1534/genetics.120.302672.

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Gene-poor, repeat-rich regions of the genome are poorly understood and have been understudied due to technical challenges and the misconception that they are degenerating “junk.” Yet multiple lines of evidence indicate these regions may be an important source of variation that could drive adaptation and species divergence, particularly through regulation of fertility. The ∼40 Mb Y chromosome of Drosophila melanogaster contains only 16 known protein-coding genes, and is highly repetitive and entirely heterochromatic. Most of the genes originated from duplication of autosomal genes and have redu

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Gu, Jia-Ning, Chen-Xi Yang, Yuan-Yuan Ding, et al. "Identification of BMP10 as a Novel Gene Contributing to Dilated Cardiomyopathy." Diagnostics 13, no. 2 (2023): 242. http://dx.doi.org/10.3390/diagnostics13020242.

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Dilated cardiomyopathy (DCM), characterized by left ventricular or biventricular enlargement with systolic dysfunction, is the most common type of cardiac muscle disease. It is a major cause of congestive heart failure and the most frequent indication for heart transplantation. Aggregating evidence has convincingly demonstrated that DCM has an underlying genetic basis, though the genetic defects responsible for DCM in a larger proportion of cases remain elusive, motivating the ongoing research for new DCM-causative genes. In the current investigation, a multigenerational family affected with a

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Steinberg, Martin H., Qianli Ma, Abdullah Kutlar, Lindsay A. Farrer, and Clinton T. Baldwin. "Fetal Hemoglobin in Sickle Cell Anemia: Associations with Single Nucleotide Polymorphisms in Quantitative Trait Loci on Chromsomes 8q12 and Xp22." Blood 108, no. 11 (2006): 1222. http://dx.doi.org/10.1182/blood.v108.11.1222.1222.

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Abstract Fetal hemoglobin (HbF) inhibits the polymerization of sickle hemoglobin modulating some of the subphenotypes of sickle cell anemia. HbF concentrations vary considerably among patients and this variation is regulated as a multigenic trait; some regulatory regions previously identified are linked to the β-globin gene-like cluster and are also within quantitative trait loci (QTL) on chromosomes 6q, 8q and Xp. We genotyped panels of haplotype tagging (ht)SNPs in the β-globin gene-like cluster and covering the 8q and Xp QTL in two independent patient samples and applied two independent ana

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Li, Ning, Ying-Jia Xu, Hong-Yu Shi, et al. "KLF15 Loss-of-Function Mutation Underlying Atrial Fibrillation as well as Ventricular Arrhythmias and Cardiomyopathy." Genes 12, no. 3 (2021): 408. http://dx.doi.org/10.3390/genes12030408.

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Atrial fibrillation (AF) represents the most common type of clinical cardiac arrhythmia and substantially increases the risks of cerebral stroke, heart failure and death. Accumulating evidence has convincingly demonstrated the strong genetic basis of AF, and an increasing number of pathogenic variations in over 50 genes have been causally linked to AF. Nevertheless, AF is of pronounced genetic heterogeneity, and the genetic determinants underpinning AF in most patients remain obscure. In the current investigation, a Chinese pedigree with AF as well as ventricular arrhythmias and hypertrophic c

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Oliveira, Danyllo, David A. Morales-Vicente, Murilo S. Amaral, et al. "Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration." Human Molecular Genetics 29, no. 9 (2020): 1465–75. http://dx.doi.org/10.1093/hmg/ddaa069.

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Abstract Amyotrophic lateral sclerosis type 8 (ALS8) is an autosomal dominant form of ALS, which is caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients, classified as ‘severe’ and ‘mild’ from a gigantic Brazilian kindred, carrying the same VAPB mutation but displaying different clinical courses. Copy number variation and whole exome sequencing analyses in such individuals ruled out previously described genetic modifiers of pathogenicity. After deriving induced pluripotent stem cells (iPSCs) for each patient (N = 5) and controls (N = 3), motor neurons were di

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Contrò, Gianluca, Alessia Micalizzi, Sara Giangiobbe, et al. "Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum." Genes 12, no. 8 (2021): 1208. http://dx.doi.org/10.3390/genes12081208.

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Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. Variants in CEP85L, encoding a protein involved in the regulation of neuronal migration, have been recently described as causative of lissencephaly with a posterior-prevalent involvement of the cerebral cortex and an autosomal dominant pattern of inheritance. Here, we describe a 3-year-old boy with slightly delayed psychomotor development and mild d

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Gutierrez Alvarez, Ana, Naomi Yachelevich, Brenda Kohn, and Preneet Cheema Brar. "Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes." Annals of Pediatric Endocrinology & Metabolism 26, no. 4 (2021): 284–89. http://dx.doi.org/10.6065/apem.2142056.028.

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Severe hypertriglyceridemia (HTG) (>885 mg/dL) can be caused by familial partial lipodystrophy type 3 (FPLD3), an autosomal dominant disorder caused by loss of function of the peroxisome proliferator-activated receptor gamma (PPARG), characterized by abnormal distribution of fat and metabolic derangements. This case reports a 16-year-old female (body mass index, 23.5 kg/m2) hospitalized twice for pancreatitis (triglycerides [TG] level >2,200 mg/dL). Her treatment management included bowel rest, insulin infusion, and plasmapheresis. A low-fat diet with 10 g of fat daily and 160 mg of feno

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Martinez-Gomez, Estrella, Alvaro Gallego-Martinez, Pablo Roman-Naranjo, and Jose A. Lopez-Escamez. "Clinical and molecular genetics of Meniere disease." Medizinische Genetik 32, no. 2 (2020): 141–48. http://dx.doi.org/10.1515/medgen-2020-2019.

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Abstract Meniere disease (MD) represents a heterogeneous group of relatively rare disorders of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL) involving low and medium frequencies, tinnitus, and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms including SNHL during the vertigo attacks. At least two mechanisms are involved in MD: (a) a pro-inflammatory immune response mediated by interleukin-1 beta (IL-1β), tumor necrosis fact

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Naudhani, Sara, Fariya Khan Bazai, Mehmood Ul Hassan, et al. "Identification of MC4R and VCP Genetic Variants in Two Pakistani Families Showing Symptoms of Diabetes, Hyperphagia, Seizures, and Obesity." Molecular Medicine Communications 3, no. 02 (2023): 149–58. http://dx.doi.org/10.55627/mmc.003.02.0362.

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Variations in the melanocortin 4 receptor (MC4R) are most commonly associated with serious early-stage monogenic obesity. The valosin-containing protein (VCP) gene, also referred to as p97, produces the ubiquitous, crucial, and multifunctional protein VCP, involved in a wide range of cellular processes, including endoplasmic reticulum-associated degradation (ERAD), degradation of lysosomal protein, and degradation of the proteasome-mediated protein. In the present study, we investigated two Pakistani families enrolled from Sibi, Pakistan, for variation in MC4R and VCP genes. Clinical symptoms

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Patton, William N., Graeme Suthers, Meryl Altree, et al. "Novel Heritable Mutation of the Transcription Factor RUNX1 as a Cause of Autosomal Dominant Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML)." Blood 110, no. 11 (2007): 4244. http://dx.doi.org/10.1182/blood.v110.11.4244.4244.

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Abstract Aim To identify the causative heritable mutation in a family with autosomal dominant familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). Method Confirmation of family pedigree, enrolment into ethics committee approved Australian Familial Hematological Cancer Study, procurement of genomic DNA from pedigree members and genetic analysis by sequencing of RUNX1 and CEBPA genes. Results The proband intially presented aged 50 with mild thrombocytopenia initially diagnosed as idiopathic thrombocytopenic purpura when bone marrow examination (including cytogeneti

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Zhang, Bing, Yoonha Choi, Dana Ng, et al. "Identification Of The Disease-Causing Mutation In Autosomal Dominant Familial Immune Thrombocytopenia By Genome-Wide Linkage Analysis and Whole Genome Sequencing." Blood 122, no. 21 (2013): 565. http://dx.doi.org/10.1182/blood.v122.21.565.565.

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Abstract Background Immune thrombocytopenia (ITP) is an autoimmune-mediated bleeding disorder characterized by low blood platelet count. The etiology of ITP remains an area of active research, and the predisposing risk factors are unclear. Genetic studies on the hereditary form of ITP, which is very rare, may help to decipher the underlying cause of disease predisposition. Herein we report a four-generation family from Michigan with multiple members affected with ITP during childhood (Figure 1). The pedigree is consistent with an autosomal dominant inheritance pattern. We performed the first f

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Ouedraogo, Zangbéwendé Guy, Caroline Janel, Alexandre Janin, et al. "Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report." Genes 15, no. 2 (2024): 225. http://dx.doi.org/10.3390/genes15020225.

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Skeletal dysplasia, also called osteochondrodysplasia, is a category of disorders affecting bone development and children’s growth. Up to 552 genes, including fibroblast growth factor receptor 3 (FGFR3), have been implicated by pathogenic variations in its genesis. Frequently identified causal mutations in osteochondrodysplasia arise in the coding sequences of the FGFR3 gene: c.1138G>A and c.1138G>C in achondroplasia and c.1620C>A and c.1620C>G in hypochondroplasia. However, in some cases, the diagnostic investigations undertaken thus far have failed to identify the causal anomaly,

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Rutkowska, Lena, Iwona Pinkier, Kinga Sałacińska, et al. "Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients." Genes 13, no. 8 (2022): 1424. http://dx.doi.org/10.3390/genes13081424.

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Familial hypercholesterolemia (FH) is an inherited, autosomal dominant metabolic disorder mostly associated with disease-causing variant in LDLR, APOB or PCSK9. Although the dominant changes are small-scale missense, frameshift and splicing variants, approximately 10% of molecularly defined FH cases are due to copy number variations (CNVs). The first-line strategy is to identify possible pathogenic SNVs (single nucleotide variants) using multiple PCR, Sanger sequencing, or with more comprehensive approaches, such as NGS (next-generation sequencing), WES (whole-exome sequencing) or WGS (whole-g

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Churchman, Michelle L., Maoxiang Qian, Ranran Zhang, et al. "Germline Genetic Variation in IKZF1 and Predisposition to Childhood Acute Lymphoblastic Leukemia." Blood 128, no. 22 (2016): LBA—2—LBA—2. http://dx.doi.org/10.1182/blood.v128.22.lba-2.lba-2.

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Abstract Background There is increasing evidence for an inherited predisposition to pediatric acute lymphoblastic leukemia (ALL). We and others have previously reported rare and highly penetrant variants in hematopoietic transcription factors (PAX5 and ETV6) and tumor suppressor genes (TP53) in both sporadic and familial ALL. IKZF1encodes the founding member of the Ikaros family of zinc finger transcription factors, and is a critical regulator of lymphoid development. IKZF1 is frequently targeted by somatic deletions and mutations in high-risk B-ALL, particularly Ph+ and Ph-like ALL, and is as

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Ropero Gradilla, Paloma, Ana Villegas, María Menor Gómez, et al. "Molecular Characterization of Hemoglobin H Disease in Spain." Blood 144, Supplement 1 (2024): 5265. https://doi.org/10.1182/blood-2024-194400.

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Introduction: Alpha-thalassemia is an autosomal recessive inherited disorder in which there is a defect in the synthesis of the α globin chain. Double heterozygosity for α+-thalassemia and α0-thalassemia results in HbH disease, which is associated with anemia, microcytosis, chronic hemolysis, and sometimes splenomegaly. The molecular basis of α-thalassemia is usually due in 90% of cases to deletions and less frequently to point mutations affecting the expression of one or more of the α duplicated genes. Objective: Molecular characterization and registry of the cases of HbH disease detected in

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Babar, Masroor Ellahi, Akhtar Ali, Syed Hassan Abbas, et al. "Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families." Iranian Journal of Public Health, September 11, 2022. http://dx.doi.org/10.18502/ijph.v51i9.10560.

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Background: Retinitis pigmentosa (RP) belongs to pigmentary retinopathies, a generic name for all retinal dystrophies with a major phenotypical and genotypical variation, characterized by progressive reduction of photoreceptor functionality of the rod and cone. Global prevalence of RP is ~ 1/4000 and it can be inherited as autosomal dominant (adRP), autosomal recessive (arRP) or X- linked (xlRP). We designed this study to identify causative mutations in Pakistani families affected with arRP. Methods: In 2019, we recruited two unrelated Pakistani consanguineous families affected with prog

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El Kadiri, Youssef, Ilham Ratbi, Abdelaziz Sefiani, and Jaber Lyahyai. "Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature." BMC Neurology 22, no. 1 (2022). http://dx.doi.org/10.1186/s12883-022-02822-y.

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Abstract Background Congenital myasthenic syndromes (CMSs) are rare genetic diseases due to abnormalities of the neuromuscular junction leading to permanent or transient muscle fatigability and weakness. To date, 32 genes were found to be involved in CMSs with autosomal dominant and/or recessive inheritance patterns. CMS with acetylcholinesterase deficiency, in particular, was determined to be due to biallelic mutations of COLQ gene with early-onset clinical signs. Here, we report clinical features and novel molecular findings of COLQ-related CMS in a Moroccan patient with a review of the lite

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Gacita, Anthony M., Lisa Dellefave-Castillo, Patrick G. Page, et al. "Abstract MP171: Transcription Start Site Profiling Defines Promoter and Enhancer Regions for Cardiomyopathy Genes." Circulation Research 127, Suppl_1 (2020). http://dx.doi.org/10.1161/res.127.suppl_1.mp171.

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Background: Mutations in more than 100 genes lead to dilated, hypertrophic and other forms of cardiomyopathy. Autosomal dominant mutations in the MYH7 and LMNA genes cause autosomal dominant hypertrophic and dilated cardiomyopathy, respectively. Individual mutations display a range of clinical expression from severe early onset disease to minimal or no symptoms. Genetic variation in noncoding gene regulatory regions including enhancers is expected to modify expression of cardiomyopathy genes and disease expressivity. In addition, heart failure is associated a fetal gene re-expression program,

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Mehawej, Cybel, Eliane Chouery, Ramy Ghabril, Sima Tokajian, and Andre Megarbane. "NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?" Nephron, October 10, 2022, 1–5. http://dx.doi.org/10.1159/000526841.

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<b><i>Introduction:</i></b> Nephronophthisis (NPHP) is a group of autosomal recessive renal diseases characterized by a reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, and cystic kidney disease. It represents the most common genetic cause of childhood renal failure. To date, around 20 different genes, encoding primary cilia proteins, have been linked to NPHP. These contribute to one-third of cases with NPHP while the majority of patients remain molecularly undiagnosed. <b><i>Materials and Methods:</i></b&

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