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In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.

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.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.

This case study found that a 9-year-old girl with trichorhinophalangeal syndrome type 1 experienced significant improvements in hair density and length after 4 months of topical minoxidil treatment, suggesting its therapeutic potential for this condition.

This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.

This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.

This study found that 1,25 dihydroxyvitamin D3 significantly increased the expression and activity of vasculoprotective natriuretic peptide receptor-A in cultured inner medullary collecting duct cells, suggesting a potential mechanistic role in cardiovascular and renal benefits.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.

This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.

This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.

This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.

This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

This case study reports that a 3 ½ year-old male with vitamin D-dependent type II rickets showed partial improvement in alopecia and rickets when treated with high doses of 1,25(OH)2 vitamin D3.

This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.

In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.

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.

This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.

This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.

In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.

In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.

This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.

In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.