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Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

This article describes the potential applications of myoblast implantation for muscle regeneration and its promising social and economic value but reports no new clinical results.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

Two studies in Cell Stem Cell reported that human and mouse somatic cells can be reprogrammed into induced pluripotent stem cells using microRNAs, eliminating the need for ectopic protein expression.

The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.

This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.

This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

In this narrative review, the authors highlighted that AI-supported electronic health record analysis could help recognize Polycystic Ovary Syndrome/Polyendocrine Metabolic Ovarian Syndrome earlier, but also warned that these systems might perpetuate historical biases if not properly validated and interpreted.

This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

This review discusses Hutchinson-Gilford progeria syndrome, highlighting its phenotype, pathogenesis, and its potential insights into natural aging and cardiovascular diseases, but it reports no new research findings.

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.

This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.

This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

Defective protein folding due to a mutation is key in ANE syndrome.

This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.

This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.

This study found that gamma-ray exposure on the day of fertilization or the day after increased genome editing efficiency in pregnant mice using the i-GONAD method, potentially aiding in the creation of diverse experimental animal models.