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This study found that linc-PINT expression was significantly decreased in patients with atrial fibrillation compared to healthy controls, while several TGF-β signaling genes were increased, suggesting a potential role in heart arrhythmias' pathogenesis.

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.

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.

This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.

This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.

A specific gene mutation causes severe skin and nail issues and hair loss.

This correspondence reports the case of a young woman with severe lipid storage myopathy due to a rare mutation, who showed significant temporary improvement with plasmapheresis and immunoglobulin treatment before stabilizing with riboflavin and coenzyme Q10 supplementation, challenging the initial assumption of an immune-mediated condition.

LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

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 presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.

This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.

This case report describes a 52-year-old black woman with diffuse scalp swelling and thinning hair attributed to a large increase in the thickness of scalp subcutaneous fatty tissue.

This study found that selective deletion of PIKFyve kinase using a PF4 promoter in mice led to defective platelet lysosome biogenesis and a prothrombotic effect, with unexpected macrophage infiltration in multiple organs.

In this study, researchers found that overexpression of LncRNA RP11-818O24.3 in hair follicle stem cells promotes their proliferation, self-renewal, and differentiation while inhibiting apoptosis through the FGF2-mediated PI3K/AKT signaling pathway, suggesting potential therapeutic applications for hair loss treatment.

In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.

This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.

This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.

New mutations in the hairless gene may cause hair loss and affect bone development.

In this mouse study, researchers found that the absence of laminin-511 in skin delays hair follicle development and disrupts hair shaft differentiation, affecting key transcription factors for hair keratins.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.