Results 151 to 160 of about 1,389,521 (207)
Advanced Science, EarlyView.ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li +14 more
wiley +1 more source
Charter of the Kansas Advisory Council on Newborn Screening [2008]
, 2008 "Effective Date: May 15, 2008.""The mission of the Kansas Advisory Council on Newborn Screening (KACNS) is to advise the Kansas Department of Health and Environment (KDHE) on the establishment of a comprehensive, quality system for ...
Kansas Advisory Council on Newborn Screening.
core
Advanced Science, EarlyView.Melatonin engages MT1/MT2 receptors to suppress STAT1‐driven USP18 upregulation, thereby redirecting PKM2 ubiquitination from K33‐linked autophagic degradation toward K27‐linked nuclear translocation. This prevents PKM2‐mediated proinflammatory gene expression in the heart, alleviating doxorubicin‐induced cardiotoxicity without compromising antitumor ...
Zhenyu Feng +10 more
wiley +1 more source
Advanced Science, EarlyView.Efoba, a novel bioactive component derived from aged garlic, confers neuroprotection against intracerebral hemorrhage. It acts on microglia to suppress CTSC release, inhibits NET‐mediated neural injury, and blocks pathological microglia‐neutrophil crosstalk. This study provides a highly promising lead compound for hemorrhagic‐stroke therapy.
Junjun Meng +7 more
wiley +1 more source
Advanced Science, EarlyView.An active biomaterial‐based bi‐adjuvant nanovaccine restores the immunocompetence of aged dendritic cells to overcome senescent cell tolerance. Accompanied by the downregulation of mitotic kinases Aurka/b and attenuation of senescence‐associated PI3K/AKT phosphorylation, the nanovaccine enhances antigen‐presenting capacity and promotes potent cytotoxic
Qingxu Song +5 more
wiley +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source