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810-840 / 1000+ resultsresearch Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Lichen simplex chronicus positive for C5b-9/MAC, IgD and C3c as a result of recurrent bacterial hair follicular unit infection
Chronic bacterial infections of hair follicles can cause ongoing skin inflammation.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Genetic Polymorphisms of the 3'-Untranslated Regions (3'-UTR) of the HSP 70 Gene in Moa Buffalo (Bubalus bubalis)
Two genetic variations in Moa buffalo help them adapt to heat.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Transcriptional activation of CCN1 and CCN2, targets of canonical Wnt signal, by ascorbic acid 2-phosphate in human dermal papilla cells
Vitamin C derivative may promote hair growth by activating specific genes.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Abstract 12: LGR6+ Epithelial Stem Cell Augmentation of Fracture Healing
LGR6+ stem cells may improve bone healing.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Molecular Background of Pi Deficiency-Induced Root Hair Growth in Brassica carinata – A Fasciclin-Like Arabinogalactan Protein Is Involved
BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
research The incidental pore: CaV1.2 and stem cell activation in quiescent hair follicles
CaV1.2 helps activate hair follicle stem cells without calcium flux.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research [The value of selenotherapy in patients with mucoviscidosis].
Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
research Systemic scleroderma and lupus panniculitis with atypical clinical features: A case report and comprehensive review
A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research A boggy swelling of the scalp
A rare calcium deposit condition was found on a man's scalp.
research Polymeric micelle mediated follicular delivery of spironolactone: Targeting the mineralocorticoid receptor to prevent glucocorticoid-induced activation and delayed cutaneous wound healing
Using polymeric micelles to deliver spironolactone topically could improve wound healing in skin affected by glucocorticoids.
research 1442 Neurotransmitter signaling specify sweat gland stem cell fate through intracellular calcium regulation
PRP can improve hair growth in people with hair loss, but more research is needed.