7 citations
,
January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” This study found that mice exposed to low humidity showed altered epidermal gene expression, which was modulated by topical emollient application; this suggests emollients may help manage dry skin in low-humidity environments by affecting specific gene pathways.
January 2024 in “Wiadomości Lekarskie” This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.
89 citations
,
August 2008 in “Human genetics” This study found that the EDAR 1540T/C genetic variant is significantly associated with hair thickness variation in Japanese populations, enhancing previously observed associations in Southeast Asian groups.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
57 citations
,
November 2006 in “International Journal of Cancer” This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.
49 citations
,
November 2019 in “Egyptian Journal of Medical Human Genetics” This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
10 citations
,
January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
9 citations
,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” This study found that overweight women with polycystic ovary syndrome carrying the HSD3B1 1245C allele had an increased presence of female pattern hair loss compared to those with the wild-type genotype.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
5 citations
,
January 2016 in “Genetics and molecular research” In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.
3 citations
,
February 2019 in “Animal biotechnology” In this study, the PLP2 gene was found to promote secondary hair follicle development in Liaoning cashmere goats, with its expression negatively regulated by melatonin and potentially affecting follicle development via the BMP pathway.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
June 2026 in “Scientific Reports” This study found that nestin-expressing hair follicle-derived cells express higher levels of certain neurotrophic factors and neural markers, indicating potential for neuroregenerative therapy applications.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” This study investigated genetic markers for alopecia areata in the Turkish population, finding that the CT60 polymorphism might be linked to increased susceptibility, while no such association was found for the +49AG polymorphism; further studies are needed to confirm these findings.
27 citations
,
April 2017 in “British Journal of Dermatology” This study identified overexpression of certain immune-related genes and underexpression of genes in specific signaling pathways in premature androgenetic alopecia, suggesting potential new therapeutic targets.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
7 citations
,
July 2018 in “Journal of Investigative Dermatology” This article reviews the genetic research on male androgenetic alopecia, highlighting that over 300 associated risk variants have been identified, with unclear mechanisms of action.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.
18 citations
,
December 2009 in “Canadian Journal of Animal Science” This study reports that BMP2 expression in goat skin is higher during late telogen and early anagen phases, indicating a potential role in hair follicle regeneration.
13 citations
,
June 2020 in “BMC genomics” This study found that chi-miR-30b-5p was more expressed in the telogen phase than in the anagen phase and inhibited dermal papilla cell proliferation by targeting CaMKIIδ.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.
10 citations
,
May 2012 in “PloS one” This study found that non-pigmented hair follicles have significantly lower expression of nucleotide excision repair genes, which may be associated with reduced melanin production capacity in these follicles.