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This study found that overexpressing the PML protein in transgenic mice decreased skin tumor occurrence and delayed their progression, highlighting PML's potential role in influencing keratinocyte growth and differentiation.

This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.

This study found that specific genetic changes in both coding and noncoding regions may have independently driven the evolution of hairlessness in various mammalian species through accelerated evolution.

This review discusses the hypothesis that polycystic ovary syndrome may originate in fetal life due to prenatal androgen exposure, but reports no new clinical results.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.

This case series highlights the real-world challenges and experiences of US healthcare providers using pegvaliase for phenylketonuria treatment, emphasizing patient education on adverse events and dietary changes, and tailored titration schedules, while reporting that most patients achieved treatment efficacy despite initial adverse events.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.

This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.

In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.

The researchers reported that in mice, the type of tumor suppressor deleted along with oncogenic Kras activation in HFSCs influenced the specific squamous cell carcinoma phenotype that developed.

This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.

This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.

This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.

This study demonstrates that modeling clone size independently of time offers analytical advantages for understanding cell distribution and mutation frequency in epithelial progenitors, extending applications beyond neutral models.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

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.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.

This case report details the challenging diagnostic journey of a 50-year-old woman with progressive supranuclear palsy, highlighting the disease's complex and variable clinical presentation.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.

This study found that transgenic mice overexpressing the SSAT gene under a metallothionein promoter suffered delayed hair loss and were highly sensitive to polyamine analogues, which led to significant liver changes and mortality.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.