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This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.

This study observed that beef cattle with certain prolactin receptor gene mutations, known as slick mutations, demonstrated improved post-weaning growth and temperature regulation in a hot, humid climate compared to other genotypes, suggesting genotype influences growth efficiency and heat tolerance.

This study found that COL17 deficiency in neonatal mice causes abnormal skin cell proliferation due to disrupted Wnt signaling, while replenishing or overexpressing COL17 can reverse this effect in both neonatal and aged skin.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

Keratins are crucial for cell structure, growth, and disease risk.

This study found that keratins have evolutionarily conserved and domain-selectively enriched amino acids, which likely reflect their unique structural roles, with distinct patterns observed among epidermal, hair, and simple-type epithelial keratins.

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 found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This case report presents a 14-year-old girl with both type I diabetes and monilethrix, detailing her symptoms and treatment with topical minoxidil, while exploring a possible genetic link between the conditions.

In this case report, significantly elevated testosterone levels were documented in a young female with Type A Insulin Resistance Syndrome, marking a clinical finding beyond what is typically associated with the disorder's known mutations.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.

This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.

This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.

In this study, molecular dynamics simulations indicated that the Glu413Lys mutation in human hair keratin significantly affects the stability of coiled coil structures, whereas Glu413Asp showed no impact on stability.

This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.

In this case report, a girl with autoimmune polyglandular syndrome type 1 experienced stabilized disease and reversal of alopecia universalis after treatment with glucocorticoids and methotrexate.

This case study highlights the complexity of managing autoimmune polyglandular syndrome type 1, emphasizing the need for thorough clinical history, high suspicion for early diagnosis, and continuous long-term follow-up.

This study found that Magra sheep with high-luster wool exhibited significantly higher expression of keratin genes, suggesting that increased keratin protein levels may be crucial for wool luster.

This clinical letter identifies Rothmund-Thomson syndrome type 2 as a rare cause of chronic wounds, but provides no new experimental findings.

This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.

In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

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 investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.

This study found that among patients with inflammatory bowel disease, those with the NUDT15 mutation had a reduced tolerance for thiopurine dosage over the long term and were more likely to require hospitalization and surgery compared to those without the mutation.

This study suggests that structural changes in the TRPV3 channel are linked to severe skin conditions like Olmsted syndrome, with differences observed between heat-activated and resting states.

This study in engineered mouse models suggests that some basal cell carcinomas may originate from hair follicle tissue stem cells upon leaving their stem cell niche.