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This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.

In this study, the researchers identified a temperature-sensitive mutant in Arabidopsis thaliana, showing disrupted root hair formation and altered responses to plant hormone treatments at elevated temperatures.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.

This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.

This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.

This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.

In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.

This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

This study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

This review discusses the dual role of the TMPRSS2 gene in coronaviral lung infection and prostate cancer, cautioning against TMPRSS2 inhibitors for early prostate cancer due to potential pro-inflammatory effects.

In this study, researchers characterized the retinal structure and function of the Oat^rhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

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 study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

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.

In this study, researchers identified two de novo germline missense mutations in the hair keratins hHb1 and hHb6 in patients with monilethrix whose parents were not clinically affected.

This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.