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In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.

This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.

This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.

This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.

This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.

This collection reviews various animal models for dermatological research, particularly focusing on genetic mutations in laboratory mice, and reports no original findings.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.

This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.

This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.

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.

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.

This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.

A mutation in the KRT25 gene causes woolly hair and hair loss.

In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

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 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 found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

This study found that deleting Smad2 and Smad3 in murine skin leads to severe skin abnormalities and cancerous lesions, similar to but more severe than those seen in Smad4 mutants, indicating the critical role of TGF-β signaling in skin development.

This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.

This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.

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 study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.