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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.

This study develops FR-1, a topical small molecule, which reduces scarring and avoids skin atrophy in a murine wound model, showing potential for treating fibrosis without the side effects of current therapies.

This study found that the lncRNA018392, responsive to melatonin, accelerates cell proliferation in cashmere goats by recruiting the transcription factor SPI1 to upregulate the nearby gene CSF1R, which may explain the molecular mechanisms of cashmere growth.

In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.

This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.

This study reports that a specific transporter protein in Staphylococcus hominis is responsible for transporting a malodour precursor, thereby playing a key role in human body odor production.

This study found that blocking corticotropin-releasing factor receptors with astressin-B promoted hair regrowth and prevented alopecia in a mouse model of stress-induced hair loss.

This study observed that repeated hair follicle sampling is feasible and reliable for measuring FMR1 mRNA and FMRP in individuals with Fragile X syndrome, supporting its use in longitudinal studies.

This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.

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.

In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.

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 used developing mouse hair follicles to explore early epithelial bud formation, finding that the Rho GTPase regulator ARHGEF3 plays a crucial role in regulating cell fate and cadherin patterning, with knockouts showing disrupted morphology and increased straight hair follicle growth.

This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This case study highlighted that excessive iodide intake from the supplement TauriNac was associated with the development of hypothyroidism in a cystic fibrosis patient, which reversed upon discontinuation.

In this study, a 7-year-old male ferret was diagnosed with hyperadrenocorticism complicated by dilatative cardiomyopathy, chronic active hepatitis, and renal disease, following symptoms including progressive hair loss and severe dehydration.

In this study, researchers found that syntaxin 9, a novel syntaxin family member, interacts specifically with the epidermal growth factor receptor and may influence its transport and signaling in some epithelial cells.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.

This study found that corin, a protease, plays a crucial role in eccrine sweat glands by promoting sweat and salt excretion, which helps regulate electrolyte balance.

This case study describes a 3.5-month-old girl with cystic fibrosis who experienced hair and skin depigmentation, which resolved after treatment with pancreatic enzymes and vitamins.

This study successfully cloned and characterized the LEF-1 gene from Inner Mongolia Cashmere Goats, potentially aiding efforts to enhance cashmere production through genetic modification.

This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.

In this study, mouse models with EGFR deficiency showed that disrupted hair follicle cycling leads to increased mast cell numbers and inflammation, suggesting EGFR's role in managing hair cycle transitions and preventing folliculitis.

This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.

This study found that mice with a disrupted TGFα gene display a curly whisker-coat phenotype, similar to waved-1 mice, suggesting TGFα's crucial role in skin architecture and hair development.

This study found that repeatedly collecting hair follicles from individuals with fragile X syndrome is feasible for measuring FMR1 and FMRP levels in both home and office settings.

This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.