2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
18 citations
,
October 2009 in “Endocrinology” This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
3 citations
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June 2020 in “Open access rheumatology” This case report reviews the management of Rowell syndrome in a patient initially diagnosed with Rhupus syndrome and highlights their development of erythema multiforme after certain medications.
July 2025 in “The Journal of Dermatology” This study identified common and unexpected adverse events associated with ritlecitinib in real-world use, providing insights into its safety profile for treating severe alopecia areata.
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.
3 citations
,
May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.
1 citations
,
April 2023 in “Scientific Reports” This study reported that newly developed RADA16-I peptide hybrids, with active motifs like GHK and KGHK, demonstrated improved wound healing in a mouse skin injury model without cytotoxicity, suggesting they might be effective scaffolds for tissue engineering and regeneration.
January 2024 in “Ankara City Hospital Medical Journal” This case report details a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, emphasizing diagnostic challenges due to non-specific clinical criteria and documenting symptoms like inflammatory arthritis, malar rash, and hematological abnormalities.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
78 citations
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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.
4 citations
,
April 2022 in “Evidence-based Complementary and Alternative Medicine” This study found that dracorhodin perchlorate improved wound healing in diabetic rats by regulating the TLR4 pathway and related inflammatory factors.
2 citations
,
January 2016 in “Scientifica” Researchers created a reliable method to measure dexpanthenol and resorcinol in hair products.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
1 citations
,
October 2025 in “International Journal of Dermatology” In this study, participants receiving a 50-mg maintenance dose of ritlecitinib reported greater improvements in emotional and activity limitations due to hair loss by Week 48 compared to those on a 10-mg dose.
52 citations
,
June 1998 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that normal mode ruby laser treatment for hirsutism is well tolerated and results in significant hair count reduction for at least six months, with multiple treatments offering greater effects.
8 citations
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January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
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.
12 citations
,
September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
67 citations
,
August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
1 citations
,
November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
1 citations
,
August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
September 2025 in “Radboud University Press eBooks” This study investigated AHR signaling's role in skin biology and reported that novel AHR ligands may help restore keratinocyte function and reduce inflammation in skin diseases, suggesting their potential as therapeutic agents.
January 2004 in “Pharmaceutical biotechnology” This study found that finasteride effectively inhibits the enzymatic activity of human steroid 5 alpha reductase type II in newly established CHO cell lines.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
4 citations
,
January 2016 in “Journal of analytical & bioanalytical techniques” This study evaluated a hair growth gel with Hibiscus rosa sinensis, Eclipta alba, and Solanum nigrum extracts, demonstrating consistent homogeneity, 5 α-reductase inhibitory activity, and no skin irritation.
10 citations
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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.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.