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This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.

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

In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.

This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.

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.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

LIPH mutations cause woolly hair in some Chinese people.

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.

This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.

This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.

This study detailed the structure and amino acid composition of sheep trichohyalin, noting its presence in various tissues and suggesting a possible functional role beyond structural support in hair follicles.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This research suggests that defects in keratinocyte differentiation due to putrescine accumulation in SSAT transgenic mice lead to skin changes and hair loss, and reducing putrescine can promote hair regrowth.

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 suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

This study found that the extraction-resistant structures in hair, feathers, and hagfish teeth are due to ε-(γ-glutamyl)lysine cross-linked proteins, emphasizing their role in maintaining the integrity of these materials.

Defective protein folding due to a mutation is key in ANE syndrome.

This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.