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This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.

This study found that IL-17A-producing γδ T cells play a key role in bone fracture healing by promoting bone formation, with deficiencies leading to impaired repair in mice.

In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

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.

In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

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.

A new mutation in the HR gene causes hair loss in a specific family.

This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.

This study found that in a mouse model of Ross River virus-induced joint inflammation, targeting IL-17A and IL-17A/F heterodimers reduced disease severity.

This study found that the receptor kinase RHS10 negatively regulates root hair growth in Arabidopsis thaliana by modulating growth duration and is associated with cell wall signal mediation, involving RNA catabolism and ROS accumulation.

This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.

This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.

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 found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.

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 study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This paper discusses the evolving understanding of psoriasis pathogenesis with no new clinical findings; the authors highlight the role of T-cell plasticity and regulatory cells, calling for further clinical applications using single-cell technologies.

This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.

This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.

This study found that selectively inactivating ribonucleotide excision repair in mouse epidermis leads to DNA damage, keratinocyte intraepithelial neoplasia, and squamous cell carcinoma, indicating a potential tumor-promoting mechanism related to compromised genome maintenance.

In this study on Arabidopsis, the researchers identified CIPK13 and CIPK18 as crucial genes for root hair growth, finding that deficiencies in these genes resulted in shorter root hairs and reduced growth rates due to altered calcium oscillations.

In a transgenic mouse model, this study found that overexpression of keratin 16 in skin keratinocytes led to hyperkeratosis and increased EGF receptor signaling, altering skin cell behavior and structure.

This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.

This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.