4 citations
,
April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” This study found that specific genetic variants in the CYP21A2 and CYP19A1 genes were associated with severe acne vulgaris among Han Chinese, particularly in male patients.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
4 citations
,
January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
169 citations
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June 1998 in “Journal of Investigative Dermatology” This study found no significant genetic association between the 5α-reductase enzyme genes and male pattern baldness, suggesting a polygenic etiology rather than simple inheritance.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
1 citations
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March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” This study found six new genetic factors linked to early-onset androgenetic alopecia and its association with increased risk of Parkinson's disease and decreased fertility.
July 2025 in “Journal of Investigative Dermatology” This study found that both desmoglein-specific and non-desmoglein autoantibodies may play active roles in Pemphigus vulgaris pathogenesis, with HLA genetics influencing autoimmune specificity.
8 citations
,
January 2015 in “Genetics and Molecular Research” This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.
1 citations
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October 2023 in “Animals” This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
10 citations
,
November 2024 in “Animals” This review examines the genetic challenges in improving wool and cashmere fibers, emphasizing the need for further research on wool keratins and keratin-associated proteins to enhance fiber characteristics.
6 citations
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January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
6 citations
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March 2024 in “Journal of Clinical Laboratory Analysis” This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.
4 citations
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December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.
17 citations
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November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
8 citations
,
July 2011 in “Animal science journal” The researchers reported that keratin 33A is a structural protein specific to goat cashmere hair, with increased winter expression in high-cashmere-producing breeds.
5 citations
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January 2015 in “Genetics and Molecular Research” This study found that gene-regulatory interactions among parental alleles contribute significantly to heterosis in early stages of maize development, with many differentially expressed genes showing non-additive expression in hybrids.
1 citations
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October 2013 in “Our Dermatology Online” This study found that individuals in this Egyptian cohort carrying the leucine (L) allele of the 5-α reductase type II enzyme had a higher risk of developing androgenetic alopecia, which may be associated with oxidative stress.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
4 citations
,
February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
2 citations
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April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
2 citations
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July 2015 in “Journal of Cosmetic Dermatology” This study did not find any correlation or linkage disequilibrium between androgen receptor gene CAG/GGC haplotypes and androgenetic alopecia in Mexican brothers.