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In this study, gene therapy using a VDR-expressing adenoviral vector promoted hair growth in Vdr-KO rats, suggesting its potential for treating alopecia associated with type II rickets.

This report describes two Saudi brothers with Vitamin D-dependent rickets Type II and emphasizes the association of this disorder with alopecia.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.

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.

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.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.

This study found that finasteride effectively inhibits the enzymatic activity of human steroid 5 alpha reductase type II in newly established CHO cell lines.

This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.

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.

This case report discusses a 27-month-old girl with vitamin D-dependent rickets type II, who showed minor improvement in skeletal features and alopecia after high-dose oral calcium and vitamin D3 treatment.

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.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.

In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.

This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

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.

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

New mutations in the hairless gene may cause hair loss and affect bone development.

This study found that the peptides RMYYY and VMYMI displayed stronger binding energy and more frequent interactions with HPGDS compared to the native inhibitor, suggesting potential as future therapeutic drugs.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.