research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research Salute to Surgeon of the Month
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research PRP for androgenetic alopecia
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research N‑K GM SERIES: THE COMPLETE GEOMETRIC MEDICINE LIBRARY — From Discovery to Deployment: SELECTIVE‑ANTI‑BACTERIAL‑GM2, SELECTIVE‑ANTI‑PATHOGENIC‑FUNGI‑GM2, and the CMC Pocket Delivery System A Comprehensive Framework for Precision Antimicrobials — 1,000,000,000:1 Selectivity, Zero Ecological Harm, Free for Humanity
The N-K GM Series offers highly selective, eco-friendly medicines targeting harmful microbes, free for personal use.
research Polycystic ovary syndrome is linked with the fat mass obesity (FTO) gene variants rs17817449 and rs1421085 in western Saudi Arabia
Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Skin and diabetes and endocrinology
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research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Finasteride/flibanserin
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research Update in Dermatology
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research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Safety, tolerability, and pharmacokinetics of CG2001 in Chinese adult male subjects with androgenetic alopecia: a randomized, double-blind, placebo-controlled, single- and multi-doses, phase 1 clinical study
CG2001 is safe, well-tolerated, and a promising treatment for hair loss with fewer side effects.
research Determination of cantharidin,nitrogen mustard and minoxidil in nurturing hair products by liquid chromatography-tandem mass spectrometry
research PO-0071 Role Of Growth Hormone Therapy In Clinical, Laboratory, Radiological Improvement Of Children With Vitamin-d Dependent Rickets Type-2
Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
research Supplementary Material for: Autologous Cell Therapy for Aged Human Skin: A Randomized, Placebo-Controlled, Phase-I Study
RCS-01 cell therapy is safe and improves skin gene expression.
research Dacomitinib-Induced Paronychia Associated With PRIDE Syndrome in a Patient With Non-Small Cell Lung Cancer
Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Characterization of spironolactone and metabolites derivatized using Girard's reagent P using mass spectrometry and ion mobility spectrometry
Girard's reagent P improves detection of spironolactone and its metabolites.