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This study observed that 25-hydroxyvitamin D3 restored rickets symptoms in genetically modified rats, suggesting its direct action through vitamin D receptor pathways.

This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.

In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

This review suggests the existence of a new syndrome characterized by keratosis pilaris, ulerythema ophryogenes, and monosomy 18p, emphasizing its potential utility in diagnosing monosomy 18p.

In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.

This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.

This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.

This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.

This review discusses the proposal to rename Polycystic Ovary Syndrome as PolyMetabolic Ovarian Syndrome and reports no new clinical results, highlighting diagnostic misconceptions and the importance of personalized management.

This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.

This study found that the simultaneous inactivation of pRb and p53 genes in mouse epidermis accelerated aggressive squamous cell carcinoma development via activation of the epidermal growth factor receptor/Akt pathway.

This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.

This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.

This report documents the successful use of theophylline in treating an 11-year-old girl with a rare immunodeficiency syndrome, suggesting potential in drug repurposing for primary immunodeficiency disorders and asthma.

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 identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.

This study found that zebrafish with a mutation in the GDP-fucose biosynthesis gene exhibited enhanced and faster regeneration of mechanosensory hair cells, implicating the importance of this gene and Notch signalling regulation in hair cell regeneration mechanisms.

This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.

This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.

This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.

This review highlights how organoid technology is transforming precision medicine by summarizing its development and applications in modeling diseases, testing drug efficacy, and tailoring patient-specific treatments, despite current challenges in standardization and ethical considerations.

This review summarizes studies on knockout mouse models revealing abnormalities in skin and hair follicle development but reports no new experimental results; the authors highlight the utility of these models for understanding hereditary skin disorders.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.