research Abnormal epigenetic modifications in peripheral blood mononuclear cells from patients with alopecia areata
Epigenetic changes in blood cells may contribute to alopecia areata.
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research Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified
No link found between specific genes and female pattern hair loss.
research Supplementary Material for: Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
CD28 is a promising target for treating alopecia areata with belatacept.
research Supplementary Material for: Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
CD28 is a promising target for treating alopecia areata with belatacept.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research 865 Single-cell protein activity inference analysis of full-thickness skin uncovers novel pathways and a rare Arg1+ macrophage population in AA
Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research A Study on the Clinical Profile and Pharmacogenetics of Methotrexate Treatment in Patients with Rheumatoid Arthritis.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Identification of Potential Hub Genes in Alopecia Areata
CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.
research Lichenoid dermatitis from interferon alpha-2a in a patient with metastatic renal cell carcinoma and seronegative HCV
A patient with advanced kidney cancer and no hepatitis C developed skin inflammation due to a drug called interferon alpha-2a.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Alopecia Areata and malignancies: uncertainties clarified by a large-scale population-based study
Alopecia areata is linked to blood cancers, especially in older patients, but not to most solid cancers.
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Isolation and Characterization of a Novel Hair Follicle–Specific Gene, Hacl-1
Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Overexpression of Hedgehog Signaling Is Associated with Epidermal Tumor Formation in Vitamin D Receptor–Null Mice
Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
research Analysis of familial factors using the basic and specific (BASP) classification in Korean patients with androgenetic alopecia
Familial factors affect hair loss types in Koreans, with M type in men, L type in women, and paternal factors influencing male hair loss more.