research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
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390-420 / 1000+ resultsresearch Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research STUDY ON EXTRACTION OF L-CYSTINE BY ACID-HYDROLYSIS OF HAIRS
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research Novel small molecules downregulate CDK1 expression and inhibit Wnt/β-catenin signaling in cutaneous squamous cell carcinoma by targeting its distinct tumor-specific cellular landscape
Small molecules KY19382 and KY19334 may help treat skin cancer by reducing CDK1 levels and blocking harmful cell signals.
research A prospective real-world study evaluating serum levels of arginine and cysteine in women with chronic telogen effluvium: do we really need blanket prescription of amino acid supplementation?
Amino acid supplements may not be necessary for all women with chronic hair loss.
research Study on the Activity of Sheep High-sulfur Keratin Promoter
The B2C promoter works in sheep cells but not in mouse embryos.
research BRCA2 in abscission
The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Trichothiodystrophy
research Chicken scratches.
Biotinidase deficiency can be easily diagnosed and treated with biotin to prevent serious harm.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research 138 Characterization of xenobiotic metabolizing enzymes of a reconstructed human epidermal model from adult hair follicles
The reconstructed skin model from hair follicles functions like human skin in processing chemicals and can be used to test ingredient safety.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Acitretin-Altered Squamous Cell Carcinoma
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Hydrogen Sulfide Disturbs Actin Polymerization via S-Sulfhydration Resulting in Stunted Root Hair Growth
Hydrogen sulfide disrupts protein function and root hair growth in plants by modifying proteins.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Decision letter: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for ion balance and proper plant cell function.
research Xenobiotics in Vitro: The Influence ofL -Cystine, Pantothenat, and Miliacin on Metabolic and Proliferative Capacity of Keratinocytes
L-cystine, D-pantothenat, and miliacin together significantly boost keratinocyte growth and metabolism.
research Skin Stearoyl-CoA Desaturase Genes
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research The compatibility of Bacillus thuringiensis Cry protein-solubilizing buffers with the droplet feeding method in fall armyworm larvae
Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.