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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 found that oxidative damage is present in the mitochondria of PolG mice, which exhibit premature aging-like phenotypes due to mitochondrial dysfunction.

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.

In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.

This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.

This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.

In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

This article discusses how DNA-based phenotyping is used by police to create visual profiles of suspects from crime scene samples, but reports no new research findings.

This review highlights the promise of non-viral gene delivery systems, particularly genosomes, over traditional viral vectors due to enhanced safety and efficiency in therapeutic nucleic acid delivery for genetic diseases like cystic fibrosis and malignancies.

This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.

This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.

This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.

This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.

This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.

This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.

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

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.

This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.

This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.

A certain gene variation can affect protein production and is linked to male pattern baldness.

This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.