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In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.

This study found that the Bioengineered Exosomal Hair Growth Factors Complex (BEHC™) enhanced human follicle dermal papilla cell proliferation and reduced inflammatory markers in vitro, while significantly decreasing hair shedding and increasing hair density among participants with androgenetic alopecia in an open-label clinical study.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

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.

The researchers reported that DHT-inducible DKK-1 may play a significant role in DHT-driven balding by inhibiting hair follicle cell growth and promoting apoptosis in androgenetic alopecia.

This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.

In this study, decellularized human amniotic membrane was found to promote wound healing and reduce scar formation in rats with full-thickness skin defects, compared to traditional clinical treatments.

This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.

This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.

In this study, researchers conducted additional IHC staining on equine skin sections and found that collagen type III primarily labels the extracellular matrix, while anti-PDGFR-antibody staining highlights cells with long-shaped processes mainly arranged around hair follicles.

This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.

This study identified a monoclonal antibody, HKN-2, that recognizes specific cells in human skin and may indicate a common antigenic determinant between hair and other skin epithelial tissues.

This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

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.

This article describes how a new blood glucose management service at the NIH Clinical Center improved safety and patient outcomes for hospitalized patients with diabetes.

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.

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.

This article reviews pulmonary arterial aneurysms in Behçet's disease and cites previous case reports, but it presents no new data or clinical findings.

In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study observed that treating hair follicles with BM15766 and 7DHC led to structural damage, disrupted cellular organization, reduced expression of key genes and proteins, and increased apoptosis, in contrast to controls, indicating detrimental effects on hair follicle integrity.

This study found that while DP concentrations in dust were higher in male dormitories, DP in hair was higher in females, suggesting differing metabolism between genders and that hair DP mainly originates internally.

This study found that keratin phenotypes were consistent across different types of hair from the same individual, allowing for successful keratin typing following ABH blood group determination.

This study observed that insulin-dependent diabetes induces specific molecular changes in the keratin structure of hair, potentially offering a new way to study diabetic complications through easily accessible tissues.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.