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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.

This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.

This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.

This study found that keratin intermediate filaments in the hair of patients with giant axonal neuropathy were structurally altered, resulting in hair that was stiffer, stronger, and more extensible.

In this study, transgenic mice overexpressing the SSAT gene were highly sensitive to polyamine analogues, leading to severe liver changes and high mortality rates after treatment.

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

This study found an association between 'short' CAG repeats in the androgen receptor gene and increased non-random X chromosome inactivation in women with androgenic alopecia.

This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.

This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

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 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.