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This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

This study identified two evolutionarily conserved ultra-high-sulfur keratin proteins in human and sheep hair follicles, which are specifically expressed in the hair cuticle during the late stages of fiber development.

This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.

In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.

Hair follicles have unique proteins that vary by species and are influenced by nutrition.

This study found that minoxidil increases the expression of a reporter gene linked to hair growth in cultured hair follicles from transgenic mice, suggesting a potential model for studying hair biology.

This article reviews uncombable hair syndrome, highlighting its symptoms, potential diagnosis methods, and the suggestion for biotin supplements, but it reports no new empirical results.

This case report describes a 2-year-old boy with uncombable hair syndrome-like hair changes that resolved spontaneously after 9 months, with genetic analysis revealing a PLCD1 gene variant.

This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.

This case report describes a girl with uncombable hair syndrome who showed significant improvement in hair combability and growth rate after two cycles of oral biotin supplementation.

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

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

This research reports that the ultra-high sulfur keratin promoter acts as a tissue-specific promoter in mouse hair follicles, as shown by induced expression of GFP and β-gal in that region post-transfection.

This study found that culturing hair follicles at the air-liquid interface enhanced hair growth and maintained an anagen-like morphology better than submerged cultures.

This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.

This report describes a patient with symptoms suggestive of both loose anagen hair syndrome and uncombable hair syndrome, adding to previous instances of overlapping features between these conditions.

This review discusses hair shaft disorders, noting the lack of specific treatments and recommending general care practices to prevent hair damage, with some improvement possible during puberty or with treatments like minoxidil.

In this study, researchers found that overexpression of IGF-1 in transgenic mice stimulated increased vibrissa growth during the first neonatal hair cycle compared to their nontransgenic littermates.

This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.

In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.

This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.

This paper proposes a new hypothesis that androgenic hair loss may be caused by changes in scalp vasculature due to androgen effects, but reports no new experimental results.

In this study, the researchers observed that biotin administration in biotin-deficient children with alopecia eliminated certain membrane proteins from their blood, suggesting that biotin might regulate these proteins' expression.

In this case report, a 9-year-old boy was diagnosed with uncombable hair syndrome following his mother's suspicion and subsequent confirmation via molecular genetics, highlighting how digital access to medical information can raise awareness of rare conditions.

This study found that patients with systemic lupus erythematosus often experience oral mucosal pathologies, with oral ulcers being the most common, and observed significant associations between oral and systemic manifestations.

This study used molecular dynamics simulations to illustrate the complex molecular behavior of the hair surface F-layer, highlighting how fatty acids interact with 18-MEA under different conditions.

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.

This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.