16 citations
,
April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
7 citations
,
January 2015 in “Dermatology” This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.
2 citations
,
July 2021 in “The Journal of Sexual Medicine” This study found significant differences in gene expression, particularly in androgen receptor activity, between men with post-finasteride syndrome and healthy controls, suggesting a potential biological basis for the syndrome.
January 2024 in “Authorea (Authorea)” This study found that polymorphism in the STK11 gene does not predict metformin therapy response regarding menstrual regularity and other symptoms in women with polycystic ovary syndrome, despite observed improvements in several health markers post-treatment.
January 2024 in “Animals” This study suggests that the transcription factors SP1 and KROX20 regulate CUX1 gene's effect on the proliferation of ovine dermal papilla cells in vitro.
January 2004 in “Chinese Journal of Dermatology” This study found that intradermal injection of specific oligonucleotides altered hair growth and morphology in mice by inducing a dominant mutation in the K17 gene.
688 citations
,
June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
412 citations
,
January 1998 in “Science” This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
227 citations
,
February 1989 in “The Journal of Comparative Neurology” This study found that calcitonin‐gene‐related peptide immunoreactive sensory axons in rats are predominantly involved in tissue maintenance rather than nociceptive functions.
194 citations
,
November 2006 in “Science” This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.
178 citations
,
October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
166 citations
,
July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
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.
87 citations
,
September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
86 citations
,
December 2002 in “Tissue Antigens” In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.
69 citations
,
August 1999 in “Developmental biology” This study found that ectopic expression of Whn in transgenic mice caused impaired differentiation in epidermis and hair follicles, with hair growth defects and severe urinary tract issues leading to hydronephrosis.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
65 citations
,
July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
60 citations
,
March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
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.
54 citations
,
January 1995 in “Human Molecular Genetics” This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.
53 citations
,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
47 citations
,
December 2011 in “Experimental Dermatology” This study suggests that the neuropeptide CGRP may protect against, but not restore, IFNγ-induced collapse of hair follicle immune privilege in alopecia areata.