4 citations
,
November 2022 in “Acta dermato-venereologica” This study found that patients with hidradenitis suppurativa had lower trabecular bone score and total hip bone mineral density compared to controls, with a high prevalence of vitamin D deficiency.
1 citations
,
September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
8 citations
,
April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
August 2020 in “Pakistan Journal of Zoology” This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
10 citations
,
February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
99 citations
,
May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
1 citations
,
August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
47 citations
,
August 2000 in “Endocrine Reviews” This review discusses idiopathic hirsutism, potential underlying mechanisms, and various therapeutic approaches without providing new clinical results, and emphasizes the need for further research on well-defined patient groups.
1 citations
,
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topical application of the HDAC1/3 inhibitor Vorinostat promoted hair regrowth in a mouse model of alopecia areata and influenced the hair cycle in normal mice.
1 citations
,
December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” In this cross-sectional study, researchers observed that patients with hidradenitis suppurativa, particularly women, had lower 2D:4D finger length ratios compared to healthy controls, suggesting a potential link to prenatal androgen exposure and disease severity, though further prospective research is needed to confirm this hormonal impact.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
7 citations
,
October 2011 in “BMC Cancer” This study found no evidence that HDGF expression transforms melanocytes into tumors in a mouse model, although it may play a role in cell differentiation and tumor progression.
14 citations
,
December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
28 citations
,
January 2012 in “Biological & pharmaceutical bulletin” This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.
May 2011 in “Journal of Clinical Neuroscience” This article discusses a case of Vogt-Koyanagi-Harada disease, detailing symptoms, diagnostic features, and treatment with corticosteroids, but it reports no new clinical findings.
5 citations
,
October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.
October 2024 in “GE Portuguese Journal of Gastroenterology” This case report describes a 78-year-old male with adenocarcinoma and Hypertrichosis lanuginosa acquisita, highlighting the need to consider malignancy in patients with unexplained excessive hair growth.
181 citations
,
January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
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.