research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
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research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Cutaneous transcriptome analysis in NIH hairless mice
Key genes linked to hair growth and cancer were identified in hairless mice.
research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research Hair Coloration by Gene Regulation: Fact or Fiction?
Gene regulation could revolutionize hair color by altering pigmentation from within.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research A preview of selected articles
The document concludes that DNA methylation and the mTOR pathway are important for stem cell function and could impact disease treatment.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review
Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Methods in hair research: how to objectively distinguish between anagen and catagen in human hair follicle organ culture
A reliable system was developed to distinguish hair growth stages, aiding in identifying hair growth promoters or inhibitors.
research In This Issue
Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research A genomic approach to susceptibility and pathogenesis leads to identifying potential novel therapeutic targets in androgenetic alopecia
Genomic approach finds new possible treatments for hair loss.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT accurately identifies cell clusters and gene patterns in complex data.
research Integrated single-cell chromatin and transcriptomic analyses of peripheral immune cells in patients with alopecia areata
Early intervention with JAK inhibitors may prevent alopecia areata progression.
research Construction of regulatory network for alopecia areata progression and identification of immune monitoring genes based on multiple machine-learning algorithms
Researchers found four genes that could help diagnose severe alopecia areata early.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research Quantitative image analysis for hereditary hair disorders
research MultiKano: an automatic cell type annotation tool for single-cell multi-omics data based on Kolmogorov–Arnold network and data augmentation
MultiKano accurately identifies cell types in complex data better than existing methods.
research Use of primary keratinocyte cultures from plucked human hairs for analysis of gap junctional intercellular communication
Hair follicle cultures are effective for studying cell communication and testing chemicals.
research DNA phenotyping: current application in forensic science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
research Cyclosporin A-induced hair growth in mice is associated with inhibition of calcineurin-dependent activation of NFAT in follicular keratinocytes
Cyclosporin A helps mice grow hair by blocking a specific protein activity in skin cells.
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Case-Only Trees and Random Forests for Exploring Genotype-Specific Treatment Effects in Randomized Clinical Trials with Dichotomous End Points
Case-only trees and random forests improve predictions of treatment effects in clinical trials.