Results 131 to 140 of about 88,069 (217)

CKMT1 Counteracts VDAC1 Oligomerization‐Induced Neuronal Pyroptosis Through Steric Hindrance in Ischemic Stroke

open access: yesAdvanced Science, EarlyView.
CKMT1 inhibits VDAC1 oligomerization via a dual‐region mechanism: its NTD interacts with the VDAC1 C‐terminal domain, while residues 1–39 sterically hinder dimerization, thereby reducing mtDNA leakage and AIM2 inflammasome activation, suppressing neuronal pyroptosis and protecting against cerebral ischemic injury. ABSTRACT Ischemic stroke is one of the
Xiaoyu Wang   +17 more
wiley   +1 more source

Disproportionate Environmental Risks: A Descriptive Analysis of Chemical Facilities and Accidents in the United States

open access: yesApplied Economic Perspectives and Policy, EarlyView.
ABSTRACT Using nationwide data on the US Environmental Protection Agency's Risk Management Plan (RMP) program, we examine the proportions of underserved populations living near facilities that use extremely hazardous chemicals, both before and after accidents involving fires, explosions, and/or toxic vapors occur.
Karlee Cook   +3 more
wiley   +1 more source

Voriconazole and Dexamethasone Drug Interaction in a Premature Neonate. [PDF]

open access: yesJ Pediatr Pharmacol Ther
Liviskie CJ   +4 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

open access: yesAmerican 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

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad   +7 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican 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

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