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.
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research Combination of metformin with liraglutide in treating HAIR-AN syndrome in children: A case report and literature review.
Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis
Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
research Increased lactate dehydrogenase activity is dispensable in squamous carcinoma cells of origin
High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
research Organization and Expression of Hair Follicle Genes.
Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
research Epithelial–mesenchymal transition in cutaneous fibrosis disease: from mechanisms to therapy
EMT plays a key role in skin fibrosis and offers new therapy targets.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research IL-36γ drives skin toxicity induced by EGFR/MEK inhibition and commensal Cutibacterium acnes
A protein called IL-36γ causes skin side effects from certain cancer treatments when combined with a common skin bacteria.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Mechanism of Laccase-assisted Tyrosine Grafting on Keratin using BSA as a Model Protein
New hair perming method using tyrosine is gentler and can be done with a blow-dryer.
research Hiperplasia supra-renal congénita e mielolipoma adrenal - relação causal ou acidental?
Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
research Citrullinome of Porphyromonas gingivalis Outer Membrane Vesicles: Confident Identification of Citrullinated Peptides
Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.
research Steroid Sulfatase in the Human Hair Follicle Concentrates in the Dermal Papilla
Steroid sulfatase in hair follicles may be a target for treating hair loss.
research Efficacy and Safety of Treatment with Combine Mycophenolate Mofetil and Corticosteroid for Lupus Nephritis:A Multicenter Open-label Study
The treatment with Shunyou and prednisone is effective and safe for lupus nephritis.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research P5 Assembly of hair keratins in thansfected cultured cells
research Platelet GPIIb/IIIa (P1A1/2) polymorphism in SLE: clinical and laboratory association
An antibiotic called co-trimoxazole can effectively treat autoimmune diseases.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Proliferating Hybrid Follicular Tumor
A unique type of complex cyst was found on a man's scrotum.
research Tofacitinib Citrate for the Treatment of Nail Dystrophy Associated With Alopecia Universalis
Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
research Dermoscopy of annular elastolytic giant cell granuloma
Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
research Tebentafusp-tebn (Kimmtra®)
Tebentafusp-tebn improves survival rates in uveal melanoma patients but has common side effects like rash and fatigue.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research A HPLC-Based Chloramphenicol Acetyltransferase Assay for Assessing Hair Growth: Comparison of the Sensitivity of UV and Fluorescence Detection
The new method is 1000 times more sensitive for measuring hair growth.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Retinoid-mediated stimulation of steroid sulfatase activity in myeloid leukemic cell lines requires RARα and RXR and involves the phosphoinositide 3-kinase and ERK-MAP kinase pathways
Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
research Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
Certain gene variants can influence acne risk and severity.