5 citations
,
May 2020 in “Life science alliance” This study found that epidermal-specific deletion of integrin α3β1 significantly reduces papilloma formation in a skin carcinogenesis model by modulating HB stem cell behavior and CCN2 expression.
6 citations
,
April 2012 in “Journal of Oral Pathology and Medicine” This study suggests that Rushton’s hyaline bodies form through both epithelial changes leading to hair keratin production and hemorrhage supplying erythrocytic substances, resolving previous debates about their origin.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
2 citations
,
January 2009 in “Human cell culture”
30 citations
,
January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
175 citations
,
August 1997 in “Nature Genetics”
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
2 citations
,
September 2024 in “Animal Cells and Systems” This study found that HBV infection altered steroid metabolism in male mice, significantly increasing levels of dehydroepiandrosterone and reducing dihydrotestosterone, which may suppress viral replication by affecting HBV promoter activity.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
68 citations
,
December 1983 in “British Journal of Dermatology” This study found HLA and beta 2-microglobulin antigens in various skin structures, with specific localization patterns in keratinocytes and hair follicle components, but not in eccrine or apocrine glands.
December 2000 in “日本組織細胞化学会総会プログラムおよび抄録集”
1 citations
,
November 2002 in “Journal of dermatology” This study investigated the histogenetic relationship between basal cell carcinoma and hair follicles, revealing specific staining patterns of a monoclonal antibody in different skin tissues.
11 citations
,
January 2015 in “Journal of cellular physiology” This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.
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.
78 citations
,
November 2005 in “Endocrinology” This study found that Hairless (Hr) acts as a corepressor of the vitamin D receptor (VDR) in human keratinocytes, blocking the action of vitamin D on keratinocyte differentiation.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
8 citations
,
October 2012 in “Transgenic Research” This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.
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.
52 citations
,
October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
8 citations
,
December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
12 citations
,
April 2019 in “Scientific Reports” This study found that HMGB1 enhanced hair growth by stimulating PGE2 production in human dermal papilla cells, suggesting a potential therapeutic target for alopecia treatment.
18 citations
,
February 1992 in “Molecular Biology Reports” This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.
354 citations
,
August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
This study found that Shh and Dhh overexpression in mouse basal cells led to similar epidermal and limb phenotypes, suggesting Dhh functions similarly to Shh in skin, unlike Ihh.