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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 article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.

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.

A specific gene mutation causes sparse, brittle hair in a family.

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 missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

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.

This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.

This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.

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 that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

This study found no qualitative skin differences during development between mutant hairless USP mice and BALB/c mice, except for enlarged cysts in the hairless strain.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.

In this study, researchers observed that the combination of hair progenitors and their micro-niche changes every three days in mouse zigzag hair, and disruptions in specific genes affected this rhythm, highlighting the importance of this periodic change for normal hair morphology.