26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” This study suggests that the TNF-α system may contribute to hyperandrogenism, obesity, and insulin resistance in polycystic ovarian syndrome, independent of the C850T polymorphism.
5 citations
,
March 2021 in “F1000Research” This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.
9 citations
,
April 1999 in “Mammalian Genome” This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study identified several genetic variants associated with cattle hair coat length, which may help breed more heat-tolerant animals by facilitating efficient heat loss.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
1 citations
,
April 2024 in “Science Advances” In this study, researchers found that the female plumage color variations in the common cuckoo are linked to the female-restricted genome and suggest this pattern is maintained by balancing selection, sharing ancestry with the oriental cuckoo.
June 2021 in “The American Journal of the Medical Sciences” This study found that patients with androgenetic alopecia had higher serum homocysteine levels, linked to the mutant MTHFR genotype, and an increased risk of coronary heart disease.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
1 citations
,
January 2016 in “Asian-Australasian journal of animal sciences” In this study, the expression of Gnαs was significantly higher in black mice compared to white mice, suggesting its potential involvement in coat color formation in mice.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
3 citations
,
March 2014 in “Journal of Industrial Microbiology & Biotechnology” This study identified a cytochrome P450 enzyme, CYP-pa1 from Pseudonocardia autotrophica, as responsible for the specific hydroxylation of cyclosporin A at the 9th N-methyl leucine, suggesting potential for biotechnological applications.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
9 citations
,
February 2013 in “Hormone and Metabolic Research” This study reported that CYP21A2 heterozygous mutations do not significantly contribute to the pathogenesis of polycystic ovary syndrome.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
15 citations
,
June 2011 in “British Journal of Dermatology” This study observed a potential association between the CC genotype of rs4646 and female pattern hair loss, but the authors advise caution due to lack of experiment-wide significance and recommend replication.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
5 citations
,
January 2015 in “Molecular Genetics and Metabolism”
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
7 citations
,
July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
7 citations
,
May 2021 in “Animal Genetics” This study found that the Siberian sunshine tabby coat modification is associated with a specific CORIN gene variant, suggesting a genetic basis for this golden phenotype in cats.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
77 citations
,
April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
35 citations
,
August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.