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This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.

In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.

This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.

This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.

This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.

This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.

This study found that despite the persistence of aberrant double-negative T-cells, functional immune-competence was maintained after thymic transplantation in a patient with a rare FOXN1 mutation.

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.

This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.

In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.

This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.

This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.

This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.

This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.

Mutations in the DSG4 gene cause specific hair and scalp issues.

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.