Results 121 to 130 of about 489,621 (291)
BiomoleculesBackground: Alcohol use disorder (AUD) is associated with chronic heavy or repeated binge alcohol abuse, which can cause alcohol-related brain damage (ARBD) marked by neurobehavioral, cognitive, and motor deficits.
Suzanne M. de la Monte +3 more
doaj +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Pakistan Armed Forces Medical Journal, 2017 Objective: To determine the frequency of cognitive deficits in the survivors of traumatic frontal lobe injury of mild to moderate severity. Study Design: Mix method study.
Ambreen Anjum, +2 more
doaj +2 more sources
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Angewandte Chemie, EarlyView.Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma +5 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Structure and Function of a Multi‐Megadalton Virus‐Like Proteolytic Dodecahedron
Angewandte Chemie, EarlyView.Zuzalysin, a virulence metallopeptidase of the periodontal pathogen Porphyromonas gingivalis, is secreted as a latent, flexible ≈95‐kDa monomer. Calcium triggers cysteine‐switch activation and hierarchical assembly into pentamers, bipentamers, tripentamers, and a ≈5.6‐MDa, ≈355‐Å dodecahedron. Structures at 1.8–3.6 Å reveal a virus‐sized catalytic cage
Mariusz Madej +20 more
wiley +2 more sources
Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community
Annals of Neurology, EarlyView.Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta +11 more
wiley +1 more source
Accelerated Brain Atrophy in Epilepsy: A Prospective Population‐Based Study
Annals of Neurology, EarlyView.Objective Previous longitudinal neuroimaging studies suggest that epilepsy is a progressive disorder. To date, these findings have relied largely on populations from tertiary centers, resulting in ascertainment bias, as severely affected individuals are more likely to be rescanned.
Marian Galovic +6 more
wiley +1 more source