66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
67 citations
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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.
50 citations
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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.
36 citations
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October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
9 citations
,
April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.
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.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
15 citations
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May 2017 in “Journal of Cellular Biochemistry” This review discusses the role of the hairless protein (HR) in alopecia and cancer, noting its potential importance in cancer cell growth and survival, and reports no new experimental results.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
April 2026 in “Journal of Cutaneous Pathology” This case report describes the first known instance of alopecia associated with multicentric reticulohistiocytosis, evidenced by scalp biopsy findings of histiocyte infiltration in a 52-year-old woman.
7 citations
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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.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
21 citations
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June 2009 in “Mammalian genome” This study describes a mouse model for Marie Unna Hereditary Hypotrichosis, identifying mutations in the hairless gene that result in sparse or absent hair and cyst-like hair follicles.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
2 citations
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June 2012 in “Journal of Dermatological Science” This study found that histidine decarboxylase is crucial for the hair-inducing ability of newborn mouse dermal cells, with its expression significantly decreasing in the first few days after birth.
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.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting Wnt/β-catenin signaling disrupted hemidesmosome organization in keratinocytes, suggesting potential therapeutic targets for HD-defective diseases like epidermolysis bullosa.
1 citations
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June 2021 in “Cureus” This case report describes the first known instance of hereditary choreiform disorder associated with and aggravated by systemic lupus erythematosus, highlighting the need for vigilance in diagnosing co-existing autoimmune conditions.
137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.
10 citations
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January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
This article suggests that alopecia areata may be an early skin manifestation of hereditary hemochromatosis in individuals predisposed to autoimmunity, recommending iron status evaluation during AA diagnosis; it reports no new clinical results.
June 2022 in “Dermatologic Therapy” This case report describes a 14-year-old girl with congenital hypotrichosis who experienced improved hair density and thickness after 3 months of treatment with oral minoxidil.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
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.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
6 citations
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April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
7 citations
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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.