July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
This study explores the expression and function of 11β-HSD1 in human hair follicles and its potential regulation of glucocorticoid effects on dermal papilla cells, but reports no definitive findings on 11β-HSD1's role.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
This article details the development and reported efficacy of a new homeopathic formulation, "HAIR LOSS," for treating various hair disorders, based on treating over 4000 diagnosed cases.
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.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
May 2022 in “Journal of the Dermatology Nurses' Association” This article summarizes highlights from the 40th Annual DNA Convention, covering various dermatology topics, but it does not report new clinical results.
September 2014 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This study found that high-speed optical coherence tomography may be a promising non-invasive tool for analyzing human hair conditions.
3 citations
,
September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
178 citations
,
October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
10 citations
,
June 2018 in “Journal of visualized experiments” This study demonstrated that lactate dehydrogenase activity is notably high in quiescent hair follicle stem cells within mouse skin using a specific enzymatic activity assay.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
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.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
March 2026 in “Journal of Investigative Dermatology” This quality improvement initiative at Children’s Hospital of Orange County seeks to increase awareness and use of nonprofit pediatric wig programs by at least 50% over three months through educational interventions.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.
10 citations
,
March 1973 in “Journal of Investigative Dermatology”
2 citations
,
July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
September 2015 in “International Society of Hair Restoration Surgery” This article discusses the role of hair follicle stem cells in potential breakthroughs for hair cloning and follicular cell implantation, but reports no new clinical findings.
March 2005 in “International Journal of Cosmetic Science” This paper discusses the use of Digital Volumetric Imaging with fluorescent dyes to visualize and compare the interior structures of six different virgin hair types, reporting no new clinical results.
July 2018 in “Hair transplant forum international” This abstract contains only author affiliations and mentions the Asian Association of Hair Restoration Surgeons, without presenting any new research findings.
7 citations
,
January 1971 in “Archives of Dermatological Research” September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
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.