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This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.

This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.

This study found that miR-133a-3p and miR-145-5p influenced goat hair follicle stem cell differentiation by inhibiting NANOG expression and promoting SOX9 expression.

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.

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

This study found that NDRG1 expression increases during the proliferation of infantile hemangioma and may positively regulate its growth, while FOXO1 downregulation plays a role in its pathogenesis.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This study found that melatonin upregulates LncRNA16913.1, which sequesters chi-miR-195-5p to release FZD6 and enhance fibroblast proliferation in cashmere goat skin, suggesting a regulatory mechanism within the lncRNA-miRNA-mRNA cascade in vitro.

In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.

This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.

This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.

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 found that the JMJD3/NF-κB-Notch1 pathway plays a crucial role in regulating keratinocyte migration and skin wound healing, with Notch1 affecting key genes involved in cell migration.

This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

In Angora rabbits, overexpression of miR-129-5p was found to induce apoptosis and inhibit proliferation of dermal papilla cells, highlighting its role in hair follicle development by targeting HOXC13.

This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.

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 study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

This study identified a single autosomal recessive gene responsible for hypotrichosis in a mutant rabbit strain, affecting hair growth and causing epidermal and hair follicle abnormalities.

This study found that a newly produced version of KGF-1 with 135 residues maintained biological activity and could serve as an alternative to the standard 140-residue KGF-1.

This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

This study found that silencing the circular RNA circNlgn in mice reduced doxorubicin-induced cardiofibrosis and cardiomyocyte apoptosis, suggesting potential therapeutic strategies for minimizing heart-related side effects in cancer treatment.

In this study, the researchers identified the SPEF2 and PRLR genes as potential candidates associated with feather rate phenotypes in Shouguang chickens through combined genome-wide association and differential expression analyses.

In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.