research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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270-300 / 1000+ resultsresearch Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Peripheral Arterial Disease: Diagnosis and Management
Early recognition and treatment of Peripheral Arterial Disease is crucial to improve survival and health outcomes.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat
Early involution in Hirosaki hairless rats' mammary glands is linked to a unique modification of STAT5A.
research Expression of bioactive recombinant human fibroblast growth factor 9 in oil bodies of Arabidopsis thaliana
Scientists successfully made a human growth factor in a plant, which could help with hair growth and bone development.
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 A retrospective analysis of efficacy and safety of intralesional triamcinolone injections in the treatment of frontal fibrosing alopecia either as monotherapy or as a concomitant therapy
Intralesional triamcinolone injections can effectively stop frontal fibrosing alopecia with minimal side effects.
research Synthetically programmed antioxidant delivery by a domesticated skin commensal
Engineered bacteria can deliver antioxidants to protect skin.
research Mammary Cells with Active Wnt Signaling Resist ErbB2-Induced Tumorigenesis
Cells with active Wnt signaling are less likely to turn into cancer when exposed to a cancer-causing gene.
research Imbalanced redox dynamics induce fibroblast senescence leading to impaired stem cell pools and skin aging
Imbalanced redox dynamics cause skin aging by damaging fibroblasts and stem cells.
research Is Satoyoshi syndrome an autoimmune disease? A systematic review
Satoyoshi syndrome is likely an autoimmune disease.
research Are South African Wild Foods the Answer to Rising Rates of Cardiovascular Disease?
South African wild foods may help prevent cardiovascular disease.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Hair transparency decoding in Asia: From stylists’ perception to in vitro measurement
Higher hair luminosity and shine mean higher perceived transparency.
research Post-marketing safety signals of four JAK inhibitors for alopecia areata: an indication-restricted FAERS pharmacovigilance study
JAK inhibitors for alopecia areata have different safety risks, requiring specific monitoring for each drug.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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 Keratinic amyloid deposition in canine hair follicle tumors
Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
research Reawakening GDNF's regenerative past in mice and humans
Activating the GDNF-GFRα1-RET signaling pathway could potentially promote skin and limb regeneration in humans and could be used to treat hair loss and promote wound healing.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research A proposal for a new design: the exposure–crossover design
The "exposure–crossover design" helps assess individual changes in risk after events like car crashes.
research Risk of Safety Events in Vitiligo Patients: A Retrospective Real‐World Data Study in the US
Vitiligo patients have higher risks of autoimmune diseases, infections, and skin cancer.
research Inflammatory Skin Disease in Latin America: Treatment Challenges and Opportunities
Improving education, training, and access to affordable treatments is crucial for better managing inflammatory skin diseases in Latin America.
research Rapid Screening of Anticoagulation Compounds for Biological Target-Associated Adverse Effects Using a Deep-Learning Framework in the Management of Atrial Fibrillation
The framework helps predict adverse effects of blood thinners, improving drug selection for atrial fibrillation.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.