research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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270-300 / 1000+ resultsresearch Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Highlights of the Japanese Society of Hair Restoration Surgery's annual scientific meeting
The Japanese Society of Hair Restoration Surgery's annual meeting shared new hair restoration techniques.
research The role of janus kinases in the treatment of autoimmune skin diseases
Janus kinase inhibitors show promise in treating autoimmune skin diseases.
research Abstracts for IMANA Pre-ISNA Convention, September 2006
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research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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 JAK Inhibitors: A New Weapon in the Skin Care Providers' Arsenal.
JAK inhibitors show promise in treating difficult skin diseases.
research Cyberspace Chat
research The Assistants' Editor Speaks
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Error in Author Surname
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research FitSpresso (Dietary Supplement) Support Healthy Weight Loss Journey To Get Slim Faster!
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
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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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research 47th Annual Conference of AOMSI
research Morphological and organoleptic nature of Ziziphus jujuba Mill.
Different jujube genotypes have varying sizes, colors, and tastes, with potential for growth in Slovakia.
research Lentivirus‐mediated subcutaneous JAM‐A modification promotes skin wound healing in a mouse model by strengthening the secretory function and proliferation of fibroblasts
JAM-A modification speeds up skin wound healing by boosting fibroblast growth.
research ISHRS Best Practices Survey Project MODULE: Who Does What SUMMARY ANALYSIS
research In Memoriam
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Targeting the Janus Kinase Family in Autoimmune Skin Diseases
Janus kinase inhibitors are promising treatments for autoimmune skin diseases like eczema and psoriasis.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.