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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 the absence of Ctip2 in epidermal keratinocytes led to impaired wound healing in mice, affecting cell migration, proliferation, and hair follicle stem cell maintenance.

This case report highlights that Sheehan's syndrome can still occur in developed countries due to factors like migration and delayed diagnosis, with diabetes insipidus sometimes masked by adrenal insufficiency.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

This study identified two evolutionarily conserved ultra-high-sulfur keratin proteins in human and sheep hair follicles, which are specifically expressed in the hair cuticle during the late stages of fiber development.

This study identified shared genes and pathways in idiopathic pulmonary fibrosis patients with COVID-19, suggesting these may increase mortality and pointing to potential drug targets for treatment.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.

This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.

This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.

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 ALKBH5 plays a critical role in wound re-epithelialization by enhancing the stability of PELI2 mRNA, and its absence delays wound healing. Supplementation with PELI2 can partially rescue this delay, pointing to potential new therapies for stubborn wounds.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.

This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.

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 knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.

This study found that deleting Snai2 and Snai3 genes in mice disrupts immune cell development, resulting in severe autoimmunity and early death due to the loss of immune tolerance.

This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

This case report illustrates the relationship between psychosis and Sheehan's syndrome and discusses treatment challenges.

In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.

This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.

This study found that using SH-SY5Y cell lysate in Western blot analysis may improve the diagnosis of Satoyoshi syndrome by providing more consistent and clear immunoreactive band patterns compared to brain homogenate, potentially leading to earlier diagnosis and treatment.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.