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This study successfully created a mouse model with conditional knockout of the p75 neurotrophin receptor gene in epidermis cells, with no significant changes in skin histomorphology observed.

This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.

In this study, transgenic mice expressing a mutant K6 gene developed progressive scarring alopecia and keratosis, suggesting they may model a new keratin disorder.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

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.

This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.

This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

Pax9 is crucial for proper tongue surface development and preventing skin-like changes.

This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.

This study suggests that the down-regulation of 14-3-3 proteins in wild-type keratinocytes, absent in Smad4 mutant keratinocytes, might contribute to the failure of hair follicles to initiate catagen in Smad4 knockout mice.

In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.

This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.

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.

In this study, overexpression of Wnt5a in transgenic mice did not produce psoriasis-like skin changes but affected hair follicle cycling, suggesting its potential relevance to hair disorders rather than psoriasis.

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

This case report describes a rare genetic mutation causing congenital hypotrichosis, where a 2-year-old girl showed some improvement in hair growth with topical minoxidil treatment, supporting its potential use for this condition.

This study found that VDR knockout mice exhibited muscle and motor impairments affecting locomotor behavior, while cognitive functions such as exploration, working memory, and anxiety appeared unaffected.

In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.

This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.

This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

In this study, a transgenic mouse model was used to demonstrate that targeted cell loss in different tissues led to varying degrees of regenerative outcomes, including reversible impaired glucose tolerance, irreversible hair loss, and permanent moderate deafness.

This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.

This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.