research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
Search
for
Sort by
Research
120-150 / 1000+ results
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Feasibility of Measuring Hair Glucocorticoids as a Potential Biomarker for Chronic Stress in Older Adults With Intellectual Disabilities
research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research Multifunctional Injectable Hydrogel Loaded with Cerium-Containing Bioactive Glass Nanoparticles for Diabetic Wound Healing
The 5/G hydrogel effectively improves diabetic wound healing.
research 1380 Ganoderma lucidum extract attenuates Corticotropin-Releasing Factor (CRF)-induced cellular senescence in human hair follicular cells
Ganoderma lucidum extract can potentially reduce stress-induced hair loss by slowing down premature hair aging and removing harmful substances.
research The Clinical Center’s Blood Glucose Management Service
The Blood Glucose Management Service improved patient safety and outcomes in managing blood sugar in hospitalized patients.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Cedrol mitigates hepatic lipid accumulation and adipocyte hypertrophy induced by corticosteroids through the inhibition of glucocorticoid receptor activity
Cedrol may help reduce liver fat and fat cell growth caused by corticosteroids.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Glia-derived steroids modulate epileptogenesis in a model of temporal lobe epilepsy
Neurosteroids from glia cells help control seizure development in epilepsy.
research Therapeutic Potential of Nerve Growth Factor-Modified Hair Follicle Stem Cells Transplantation in a Rat Model of Alzheimer’s Disease
NGF-modified hair follicle stem cells may help treat Alzheimer's by improving brain function and reducing harmful proteins.
research Glyburide blocks the relaxation response to BRL 34915 (cromakalim), minoxidil sulfate and diazoxide in vascular smooth muscle.
research Cerebellar Changes in Guinea Pig Offspring Following Suppression of Neurosteroid Synthesis During Late Gestation
research Sinapic acid and glabridin synergistically mitigate androgenetic alopecia by modulating ferroptosis through stabilization of β-catenin against ubiquitin-dependent degradation.
Sinapic acid and glabridin together help hair growth in androgenetic alopecia.
research Role of alkaline ceramidase 1 (Acer1) in regulating epidermal homeostasis and tumorigenesis
Acer1 is essential for skin health and affects hair growth and skin cancer risk.
research The Serine Protease Activity of Corin Is Required for Normal Pigment Type Switching
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Identification of dual-purpose therapeutic targets implicated in aging and glioblastoma multiforme using PandaOmics - an AI-enabled biological target discovery platform
CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research 5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes
Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
research Polymorphic Enzyme Systems in Human Hair Sheath Cells
Enzyme presence in hair sheath cells decreases over time, affecting forensic analysis.
research Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.