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.
24 citations
,
November 2013 in “Molecular Medicine Reports” This study demonstrated that human hair follicle stem cells can be efficiently differentiated into endothelial-like cells using VEGF and bFGF, suggesting their potential as a novel cell source for vascular tissue engineering.
2 citations
,
January 2009 in “Human cell culture” 47 citations
,
February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
April 2015 in “MOJ Cell Science & Report” This study found that rat hair follicle stem cells can be effectively transfected with VEGF 165 using lentivirus vectors, suggesting their potential use in developing tissue-engineered skin with improved vascularization.
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.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” 215 citations
,
September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
18 citations
,
January 2021 in “Skin Research and Technology” This study found that high-frequency ultrasound was effective in localizing deep tumor margins in basal cell carcinoma, suggesting its utility in selecting therapeutic approaches.
65 citations
,
January 2017 in “Postępy Dermatologii i Alergologii” This review highlights the increasing clinical applications of high-frequency ultrasonography in dermatology, particularly for assessing the depth of skin tumors and monitoring inflammatory skin diseases, but reports no new clinical results.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
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.
21 citations
,
July 2004 in “British Journal of Dermatology” This study suggests that hair follicles in the genital area may serve as reservoirs for high-risk human papillomaviruses.
4 citations
,
April 2018 in “Biotechnology Letters” Human growth factor 20 can boost mouse whisker growth.
25 citations
,
August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
4 citations
,
January 2025 in “Diagnostics” This article reviews the use of high-frequency ultrasonography to visualize nail units and scalps in dermatology, highlighting its potential benefits for disease assessment and treatment monitoring, but reports no new clinical results.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
8 citations
,
March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
4 citations
,
August 2023 in “Biomedicine & Pharmacotherapy” This study found that in noise-exposed FVB/NJ mice and cell models, ivacaftor reduced oxidative stress and hearing damage by maintaining CFTR function and increasing Nrf2 expression, suggesting its potential for treating noise-induced hearing loss.
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.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
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.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
36 citations
,
February 2017 in “Journal of Cellular and Molecular Medicine” In this study, VEGF165 induced hair follicle stem cells to differentiate into vascular endothelial cells, potentially supporting angiogenesis and neovascularization, with the Notch signaling pathway affecting differentiation efficiency.
8 citations
,
September 2023 in “Skin Research and Technology” This study found that combining high-frequency ultrasound with clinical examination significantly improved the diagnostic accuracy of invisible subcutaneous lesions from 47.3% to 80.8%, especially for conditions like epidermoid cysts and lipomas, although it was less effective for rarer lesions such as dermatofibromas.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
June 2025 in “Journal of Ultrasound in Medicine” This study reports that high-frequency ultrasound can characterize frontal fibrosing alopecia by assessing dermal atrophy, hair follicle changes, and subclinical inflammation.