research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
Search
for
Sort by
Research
660-690 / 1000+ resultsresearch Ethanol Patch Test—A Simple and Sensitive Method for Identifying ALDH Phenotype
The ethanol patch test reliably identifies ALDH phenotype.
research Fibrosing Alopecia in a Pattern Distribution
Fibrosing alopecia in a pattern distribution is a new type of scarring hair loss that resembles common baldness and an autoimmune skin disease.
research Brief Report: Requirement of TACE/ADAM17 for Hair Follicle Bulge Niche Establishment
TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
research Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
research Low fucosylation defines the glycocalyx of progenitor cells and melanocytes in the human limbal stem cell niche
Low fucosylation boosts stem cell growth in the eye.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Análise comparativa das características clínico-patológicas e imunopatológicas do líquen plano pilar e da alopecia frontal fibrosante
Lichen planopilaris and frontal fibrosing alopecia are likely the same disease with different clinical appearances.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research EVALUATION OF THE EFFICACY OF PIX LIQUIDA FOR ALOPECIA AREATA: A CASE REPORT
Pix Liquida may help treat alopecia areata.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
research Alefacept for Severe Alopecia Areata
Alefacept does not effectively treat severe alopecia areata.
research Refractory alopecia areata with single hairs imitating frontal fibrosing alopecia: a prospective observational study
A unique type of hair loss mimics another condition but has minimal inflammation and specific immune cells present.
research Evaluation of Adipocyte Fatty acid Binding Protein (A-FABP) Serum Level in Male Androgenetic Alopecia Patients
Men with male pattern baldness have higher levels of A-FABP, which might help in early detection.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research 097 LFA-1 blockade prevents the onset of alopecia areata in C3H/HeJ mice
Blocking LFA-1 prevents hair loss in mice.
research 130 Expression of nidogen1 in basal cell carcinoma
Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
research Case of alemtuzumab-related alopecia areata management in MS
Systemic corticosteroids might help treat hair loss caused by alemtuzumab in MS patients.
research Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
Mutations in the Sgk3 gene cause fuzzy hair in mice.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Unusual patterns of presentation of frontal fibrosing alopecia: A clinical and trichoscopic analysis of 98 patients
Trichoscopy helps diagnose frontal fibrosing alopecia, even with unusual patterns.
research Fibrosing alopecia in a pattern distribution
Fibrosing alopecia in a pattern distribution is a hair loss condition often confused with other types, requiring early treatment but usually not resulting in significant hair regrowth.
research Efficacy of adipose stromal cells-enriched high-density fat graft combined with BTX-A for Raynaud’s phenomenon: a prospective cohort study
Combining fat grafts with botulinum toxin helps improve Raynaud's symptoms.
research Common contact allergens implicated in frontal fibrosing alopecia found in over-the-counter hair growth serums and solutions
Over-the-counter hair growth products may cause frontal fibrosing alopecia due to allergens.
research Fibrosing alopecia in a pattern distribution
Fibrosing alopecia in a pattern distribution is a unique hair loss condition with inflammation and scarring, resembling but distinct from common balding.