Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1126/science.2902686 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Innovative approaches in stem cell therapy: revolutionizing cancer treatment and advancing neurobiology - a comprehensive review.
Int J Surg
December 2024
Department of Medical Laboratory Sciences, College of Applied Medical Sciences, Prince Sattam bin Abdulaziz University, Alkharj, Saudi Arabia.
Article Synopsis
- Stem cell therapy is an exciting area of medicine that could change how we treat cancer and brain diseases.
- Scientists are looking at special cells called Mesenchymal Stem Cells (MSCs), which can help either grow or fight tumors, and how they release tiny particles called exosomes that affect cancer growth.
- Genetic changes to stem cells might help deliver medicine directly to tumors, making this therapy promising for healing and managing diseases in the future.
A Novel De Novo Gain-of-Function Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Neurol Genet
October 2024
From the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.
Article Synopsis
- A novel mutation (c.3506G>A, p.G1169D) in the Ca1.3 gene is linked to a syndrome that causes autism, developmental delays, and other neurological and hormonal disorders in children, presenting with varying severities.
- Two patients with this mutation exhibited different symptoms: one had severe issues including respiratory problems and hearing loss, while the other had a milder phenotype possibly due to mosaicism of the mutation.
- Functional studies showed that the mutation enhances channel activity, leading to abnormal calcium channel behavior, but treatments with calcium channel blockers (isradipine and nifedipine) did not produce positive effects for the severely affected patient.
Insulin effects on core neurotransmitter pathways involved in schizophrenia neurobiology: a meta-analysis of preclinical studies. Implications for the treatment.
Mol Psychiatry
July 2023
Section of Psychiatry, Laboratory of Molecular and Translational Psychiatry, Unit of Treatment-Resistant Psychiatric Disorders, Department of Neuroscience, Reproductive Sciences and Odontostomatology University of Naples "Federico II", School of Medicine, Via Pansini 5, 80131, Naples, Italy.
Impairment of insulin action and metabolic dysregulation have traditionally been associated with schizophrenia, although the molecular basis of such association remains still elusive. The present meta-analysis aims to assess the impact of insulin action manipulations (i.e.
View Article and Find Full Text PDFMolecular Characterisation of the Mechanism of Action of Stimulant Drugs Lisdexamfetamine and Methylphenidate on ADHD Neurobiology: A Review.
Neurol Ther
December 2022
Facultad de Medicina y Ciencias de la Salud, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain.
Attention-deficit/hyperactivity disorder (ADHD) is a common childhood-onset neurodevelopmental disorder characterised by persistent inattention, hyperactivity and impulsivity. Moreover, ADHD is commonly associated with other comorbid diseases (depression, anxiety, bipolar disorder, etc.).
View Article and Find Full Text PDFCross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With Variants.
Neurology
March 2022
From the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch (P.M., Y.H., S.D., D.S., A.R.F., C.G.B.), and International Neuroinfectious Diseases Unit, Division of Neuroimmunology and Neurovirology (B.J.B.), National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Development (A.D., B.M.), and Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (R.V.), National Institutes of Health, Bethesda, MD; Department of Pharmacology (N.C., P.L.J., T.J.), Reno School of Medicine, University of Nevada; Pediatric Neuroendocrinology Group, Clinical Research Branch, National Institute of Environmental Health Sciences (K.I., N.D.S.), National Institutes of Health, Research Triangle Park, NC; Department of Neurosciences (C.G.K.), University of California, San Diego; Department of Pediatric Neurology, Center for Chronically Sick Children and Institute of Cell Biology and Neurobiology (A.M.K.), Charitè-Universitätsmedizin Berlin, Germany; Institute for Diagnostic and Interventional Radiology (C.-H.C.), University Clinic, Jena, Germany; Division of Pediatric Genetics, Department of Pediatrics (B.R.), University of California, Los Angeles; Nashville Skin and Cancer (A.R.), TN; Florida Dermatology and Skin Cancer Centers (K.W.F.), Winter Haven; and Department of Pathology, University of Iowa Carver College of Medicine (S.A.M.), Iowa City.
Background And Objectives: Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: . The mechanism underlying this phenotypic divergence remains unclear. In this study, we characterize the neuromuscular phenotype of individuals with arhinia caused by variants and analyze their complex genetic and epigenetic criteria to assess their risk for FSHD2.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!