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Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

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 study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.

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.

In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.

This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.

This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.

This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.

This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.

This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.

This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

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.

This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.

The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

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.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

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.

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

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 found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.