2 citations
,
September 2004 in “Experimental Dermatology” This study found that VR1 activation in human hair follicles inhibited hair growth by suppressing proliferation and promoting apoptosis, suggesting VR1 plays an important role in hair growth regulation.
10 citations
,
March 2022 in “Frontiers in Oncology” This study found that the overexpression of the lncRNA HOTTIP in glioma cells increased resistance to the chemotherapy drug temozolomide, suggesting a key role for miR-10b and EMT processes in this resistance.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
15 citations
,
August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
19 citations
,
August 1999 in “European journal of endocrinology” This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
49 citations
,
April 2006 in “Journal of Investigative Dermatology” TRPV1 helps regulate hair growth cycles.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
14 citations
,
June 2011 in “Journal of Dermatological Science” TSH influences keratin expression in human hair follicles.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
59 citations
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November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
9 citations
,
April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
324 citations
,
May 2002 in “Oncogene”
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
88 citations
,
August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
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.
12 citations
,
October 2006 This review discusses the role of matriptase and its inhibitor HAI-1 in epithelial homeostasis and cancer development, highlighting their imbalance's link to cancer progression without presenting new experimental results.
86 citations
,
June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
1 citations
,
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in wild-type Arabidopsis plants, root hair growth is suppressed with increased nutrient availability, with RHD6 subfamily genes down-regulated and GTL1 and DF1 genes influencing root hair morphology under these conditions.
63 citations
,
November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” This study observes the expression of mRNA for androgen receptor, 5α‐reductase, and 17β‐hydroxysteroid dehydrogenase in human dermal papilla cells.
May 2025 in “The FASEB Journal” This study concluded that TNFRSF1B is a potential pathogenic factor in androgenetic alopecia, suggesting it as a novel therapeutic target.
June 2021 in “The American Journal of the Medical Sciences” This study found that patients with androgenetic alopecia had higher serum homocysteine levels, linked to the mutant MTHFR genotype, and an increased risk of coronary heart disease.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
17 citations
,
October 2003 in “Brazilian Journal of Medical and Biological Research” This study found that SDR5A1 gene expression was similar between hirsute women, normal women, and men, suggesting it may not explain differences in hair growth among these groups.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
414 citations
,
August 2005 in “Nature” In this study, researchers discovered that activating TERT in mouse skin epithelium triggers dormant hair follicle stem cells, leading to rapid hair growth, through a pathway independent of telomere extension.