research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
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60-90 / 1000+ resultsresearch STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research All-in-one polysaccharide hydrogel with resistant vascular burst pressure and cooperative wound microenvironment regulation for fatal arterial hemorrhage and diabetic wound healing
The hydrogel effectively stops bleeding and heals diabetic wounds quickly.
research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana
A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
research Ganoderma lucidum extract attenuates corticotropin-releasing hormone induced cellular senescence in human hair follicle cells
Ganoderma lucidum extract may help treat stress-related hair loss.
research 부챗말 Glucopyranosyldiacylglycerol의 탈모방지 효능
Padina arborescens and its component MOGG may help prevent hair loss through several actions, including blocking a hair loss-related enzyme.
research Histone deacetylase inhibitors promote neurosteroid‐mediated cell differentiation and enhance serotonin‐stimulated brain‐derived neurotrophic factor gene expression in rat C6 glioma cells
HDAC inhibitors help brain cells grow and improve brain function.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Transglutaminase from Hair Follicle of Guinea Pig
A unique enzyme in guinea pig hair follicles helps form protein cross-links in hair.
research Endothelial NMMHC IIA dissociation from PAR1 activates the CREB3/ARF4 signaling in thrombin-mediated intracerebral hemorrhage
Targeting NMMHC IIA may help treat blood-brain barrier damage.
research Phase II study of safusidenib erbumine in patients with chemotherapy- and radiotherapy-naïve isocitrate dehydrogenase 1-mutated WHO grade 2 gliomas
Safusidenib erbumine shows promise as a treatment for certain brain tumors, but mild side effects like hair loss need attention.
research Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole‐body energy expenditure
Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Inhibition of 17α-hydroxylase/C17,20 lyase reduces gating deficits consequent to dopaminergic activation
Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
research Kaempferol Rhamnosides from Geranium sibiricum as Aldose Reductase Inhibitors and Their Content by HPLC Analysis
Geranium sibiricum may help manage diabetic complications by inhibiting a key enzyme.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Discovery and Optimization of Novel Pyridines as Highly Potent and Selective Glycogen Synthase Kinase 3 Inhibitors
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.
research Sequential Morphologic and Clinicopathologic Alterations in Dogs with Experimentally Induced Glucocorticoid Hepatopathy
Glucocorticoid use in dogs quickly causes liver changes and Cushing's syndrome symptoms.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Human Epidermal Transglutaminase
The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Ginseng Extracts, GS-KG9 and GS-E3D, Prevent Blood–Brain Barrier Disruption and Thereby Inhibit Apoptotic Cell Death of Hippocampal Neurons in Streptozotocin-Induced Diabetic Rats
Ginseng extracts protect brain cells and reduce damage in diabetic rats.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research The Flavonol Quercitrin Hinders GSK3 Activity and Potentiates the Wnt/β-Catenin Signaling Pathway
Quercitrin may help treat Alzheimer's by boosting brain cell signaling without causing tumors.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.