research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
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90-120 / 1000+ results research Evaluation of glucuronide metabolite stability in dried blood spots
Dried blood spots can be as stable as frozen liquid samples for storing certain metabolites.
research Biological Activities of 2,3,5,4′-Tetrahydroxystilbene-2-O-β-D-Glucoside in Antiaging and Antiaging-Related Disease Treatments
THSG from a Chinese plant helps with aging and related diseases.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research IGFBP5 Promotes Neuronal Apoptosis in a 6-OHDA-Toxicant Model of Parkinson’s Disease by Inhibiting the Sonic Hedgehog Signaling Pathway
IGFBP5 may be a potential target for Parkinson's treatment by reducing neuron death.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research GSK-3 Inhibitors: Recent Developments and Therapeutic Potential
Drugs that block GSK-3 show promise for treating various diseases.
research Glia-derived steroids modulate epileptogenesis in a model of temporal lobe epilepsy
Neurosteroids from glia cells help control seizure development in epilepsy.
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 Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
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 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 Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
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 Brain-targeted intranasal delivery of protein-based gene therapy for treatment of ischemic stroke
Intranasal delivery of gene therapy shows promise for treating ischemic stroke.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
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.
research An X-traordinary stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research Molecular docking simulation studies on potent butyrylcholinesterase inhibitors obtained from microbial transformation of dihydrotestosterone
Metabolite 7 is a strong inhibitor for Alzheimer's disease management.
research Transglutaminase-mediated cross-linking in mammalian epidermis
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Dehydroepiandrosterone- and glucose-6-phosphate-dehydrogenases in the hair cycle of the rat
research Cidea Control of Lipid Storage and Secretion in Mouse and Human Sebaceous Glands
Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.