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This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.

This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

This study suggests that CTHRC1, a protein expressed in cardiac fibroblasts, may improve wound repair and prevent cardiac rupture after myocardial infarction by activating a specific signaling pathway.

This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.

This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.

This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.

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

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.

This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.

In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.

This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

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 the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.

This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.

In this study, researchers identified IL18R+ thymus-resident regulatory T cells in mice, demonstrating their unique molecular features and resistance to age- and stress-induced thymus involution, highlighting IL18 signaling's role in Treg migration and retention.

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 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.

In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.

In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.

This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.

In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.

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

This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.