31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
29 citations
,
May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.
25 citations
,
April 2017 in “PloS one” In this study, specific SNPs in the FST gene were significantly associated with various wool quality traits in Chinese Merino sheep, suggesting potential markers for breeding programs.
23 citations
,
January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
22 citations
,
January 2014 in “Journal of Interferon & Cytokine Research” In this study, researchers found that specific IL18 genetic variants may be linked to increased susceptibility to alopecia areata in a Korean population.
19 citations
,
April 2015 in “Developmental Dynamics” This study reports that dynamic interactions between stem cells and their niche, influenced by macro-environmental factors, regulate regenerative behavior in integument pattern formation.
19 citations
,
April 2014 in “Hormones” Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
15 citations
,
December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
14 citations
,
April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
13 citations
,
February 2025 in “Nature Communications” In this study, a deep neural network model called regX was developed to prioritize driver regulators for cell state transitions by incorporating gene-level regulation and interactions, showing potential therapeutic targets in type 2 diabetes and hair follicle development when applied to single-cell multi-omics data.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
11 citations
,
October 2022 in “Clinical Cosmetic and Investigational Dermatology” In this study, SNPs in genes affecting skin pigmentation were linked to each skin type's unique response to environmental stress, suggesting potential for personalized skin care products.
11 citations
,
November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
11 citations
,
April 2019 in “International Journal of Molecular Sciences” This study found that genetic polymorphisms of OCT1 influence the effectiveness of metformin treatment in improving insulin sensitivity among PCOS patients, suggesting a role for personalized treatment strategies.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” In this study, researchers found that androgen receptor gene polymorphism is associated with higher androgenetic alopecia grades and PSA levels in men with benign prostatic hyperplasia, but not with prostate cancer.
11 citations
,
December 2013 in “International Journal of Dermatology” This study found that variations in the IL16 gene, specifically SNPs rs17875491 and rs11073001, may be associated with increased risk and phenotype expression of alopecia areata in the Korean population.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
10 citations
,
November 2021 in “International journal of molecular sciences” This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.
10 citations
,
November 2021 in “PLoS ONE” This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.
9 citations
,
June 2020 in “Animal genetics” In this study, researchers identified genetic variants in the PCCA and PRLR genes that are significantly associated with hair coat length in Brangus heifers, potentially contributing to more thermotolerant cattle.
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.
9 citations
,
May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
9 citations
,
December 2018 in “Journal of Natural Fibers” This study found that K33A was significantly upregulated in lustrous Magra wool follicles, while other keratin and KAP genes showed downregulation, impacting wool's physical properties like luster.
9 citations
,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
9 citations
,
August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.