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.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
January 2026 in “Preprints.org” In this study, researchers identified four novel variants in the FGF5 gene associated with the long-haired phenotype in dogs, suggesting additional unexplored genetic factors contribute to this trait beyond the known Lh1-Lh5 alleles.
15 citations
,
August 2010 in “Fertility and sterility” This study found that girls with polycystic ovary syndrome and longer SHBG and AR gene repeats experienced greater improvements in lipid and androgen levels after one year of metformin treatment.
1 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
25 citations
,
August 2006 in “Human Reproduction” This study found that the GGC repeat length significantly influenced testosterone levels in oral contraceptive users from high-risk breast cancer families, and homozygosity for short alleles may be linked to increased breast cancer risk.
12 citations
,
September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
1 citations
,
January 2020 in “Journal of Translational Genetics and Genomics” This study identified 47 genetic variants with a higher frequency in centenarians compared to young controls in the Bulgarian population, suggesting potential associations with longevity.
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.
September 2018 in “Fertility and Sterility” In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.
1 citations
,
January 2025 in “Frontiers in Immunology” In this study, researchers found that cytokine dysregulation linked to genetic background is present in both patients and healthy but genetically related individuals in two autoimmune skin diseases, Pemphigus vulgaris and Alopecia areata, suggesting that protective immune mechanisms may prevent disease manifestation in predisposed individuals.
7 citations
,
February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
1 citations
,
February 2009 in “Clinical Genetics” This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.
April 2025 in “Frontiers in Genetics” This study found that integrating breed-specific BOA and SNP-based models helps reveal the genetic factors involved in thermotolerance traits in beef cattle, enhancing insights into thermoregulation and potentially improving cattle's heat resilience.
195 citations
,
November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
150 citations
,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.
36 citations
,
November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.
May 2024 in “JAMA Dermatology” In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.
7 citations
,
February 2020 in “Clinical and Experimental Dermatology” This study identified an association between alopecia areata and the MICA*009 and HLA-B14 genetic markers, highlighting the importance of studying them together to better understand their role in this condition.
1 citations
,
July 2012 in “British Journal of Dermatology” This synopsis reviews key dermatological advancements discussed at the British Association of Dermatologists meeting in 2011 and reports no new clinical results.
This study found no predictive link between mothers’ PCOS symptoms and the adolescent phenotype, but identified certain gene alleles associated with higher testosterone levels in affected adolescents.
169 citations
,
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.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found weak epidemiological associations between male pattern baldness and coronary heart disease, but no significant genetic link, though specific loci shared risks with other conditions.