research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
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690-720 / 1000+ results research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka
A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research Managing adverse events associated with vismodegib in the treatment of basal cell carcinoma
Adverse events from vismodegib can be managed effectively to ensure optimal treatment.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Controversial Concepts
The author now believes tricholemmal carcinoma is a rare type of infundibular squamous cell carcinoma and more research is needed on these tumors.
research Bioequivalence of two kinds of finasterides tablets in healthy volunteers
The two finasteride tablet brands are bioequivalent.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
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 199 Hand preference and sexual orientation as useful elements to predict finasteride side effects in male androgenic alopecia
research Lupus comédonien
A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Stated Preferences in Non-Small-Cell Lung Cancer: A Discrete Choice Experiment
Patients with non-small-cell lung cancer need significant survival gains to accept severe side effects.
research Curcumin derivatives inhibit testicular 17β-hydroxysteroid dehydrogenase 3
Curcumin and its derivatives can block an enzyme important for making testosterone, with one derivative being particularly strong.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Determination of TG5 gene polymorphism and its influence on productivity traits of beef cattle reared in Lithuania
The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Successful in situ 5-aminolevulinic acid photodynamic therapy in a 53-year-old female with cutaneous squamous cell carcinoma
Photodynamic therapy successfully treated skin cancer in a 53-year-old woman.
research Combinatorial Biosynthesis of Sulfated Benzenediol Lactones with a Phenolic Sulfotransferase from Fusarium graminearum PH-1
A fungal enzyme was used to make compounds more soluble, aiding drug discovery and crop protection.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research Carvone Decreases Melanin Content by Inhibiting Melanoma Cell Proliferation via the Cyclic Adenosine Monophosphate (cAMP) Pathway
Carvone helps treat skin issues by reducing melanin and stopping harmful cell growth.
research 83 Combination Grafting
Combination grafting offers efficient, natural hair restoration in one session.
research Twenty-Five and Up (25Up) Study: A New Wave of the Brisbane Longitudinal Twin Study
The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.