research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
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research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research EFFECT OF ANTIANDROGENS ON VALPROIC ACID-INDUCED NEURODEVELOPMENTAL CHANGES IN RATS
Antiandrogens help improve developmental delays caused by valproic acid in rats.
research TRPV1 Function in Health and Disease
TRPV1 is involved in pain, various body functions, and diseases, but targeting it for treatment is challenging.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Four-amino acid segment in steroid 5 alpha-reductase 1 confers sensitivity to finasteride, a competitive inhibitor.
Four-amino acid part makes enzyme sensitive to finasteride.
research A novel monoclonal antibody to the outer root sheath cells
The new antibody, TYHF-1, specifically targets certain hair-related structures.
research Thiazole: A Versatile Standalone Moiety Contributing to the Development of Various Drugs and Biologically Active Agents
Thiazole, a sulfur and nitrogen chemical, is useful in creating potential drugs for conditions like seizures, cancer, bacterial infections, tuberculosis, inflammation, malaria, viruses, Alzheimer's, diabetes, and A1-receptor issues.
research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE
The ABI1 gene contributes to prostate cancer progression and treatment resistance.
research Retinoids Modulate MITF: A Novel Mechanism in the Regulation of Melanogenesis
Retinoids or their analogs could treat skin pigmentation disorders like melasma and vitiligo.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research USE OF VALPROIC ACID FOR THE TREATMENT OF NEUROPSYCHIATRIC SYMPTOMS IN ACQUIRED BRAIN INJURIES
Valproic acid effectively reduces aggressive and impulsive behaviors in brain injury patients with acceptable side effects.
research 3P's (Pharmacokinetic, Pharmacodynamic, and Pharmacogenomic) of Valproate: What's New?
New information shows Valproate may protect the brain and reduce breathing failure risk but can cause liver damage and other side effects, with genetics affecting dosage needs.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Engineering of Recombinant Fortilin for Structure Activity Studies
The research developed new fortilin protein constructs for potential heart disease treatments.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research UNITY INOVA NMR Spectrometer Systems Installation Planning
Divalproex sodium significantly improved headaches in two-thirds of patients.
research Methyl Jasmonate Activates the 2C Methyl-D-erithrytol 2,4-cyclodiphosphate Synthase Gene and Stimulates Tanshinone Accumulation in Salvia miltiorrhiza Solid Callus Cultures
Methyl jasmonate boosts tanshinone production in Salvia miltiorrhiza callus cultures.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Thy1 marks a distinct population of slow-cycling stem cells in the mouse epidermis
A specific group of slow-growing stem cells marked by Thy1 is crucial for skin maintenance and healing in mice.
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 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
research Emerging Strategies in Smart Nano-PROTAC for Stimuli-Responsive Protein Degradation and Precision Cancer Therapy
Smart nano-PROTACs improve cancer treatment by targeting proteins more precisely and reducing side effects.
research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
research A Receptor-Like Kinase Mediates Ammonium Homeostasis and Is Important for the Polar Growth of Root Hairs inArabidopsis
The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
research Alteration of Skin Wound Healing in Keratinocyte-Specific Mediator Complex Subunit 1 Null Mice
MED1 affects skin wound healing differently in young and old mice.