Results 161 to 170 of about 253,035 (314)

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk. [PDF]

PLoS Genet
Carlson JC, Zhang X, Erdogan-Yildirim Z, Beaty TH, Butali A, Buxó CJ, Gowans LJJ, Hecht JT, Long RE, Moreno L, Murray JC, Orioli IM, Padilla C, Wehby GL, Feingold E, Leslie-Clarkson EJ, Weinberg SM, Marazita ML, Shaffer JR.   +18 more
europepmc   +1 more source

Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong, Min‐Hee Lee, Hiroshi Uda, Yoon Ho Hwang, Michael Behen, Aimee Luat, Csaba Juhász, Eishi Asano   +7 more
wiley   +1 more source

Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations. [PDF]

PLoS Genet
Han Y, Hong Y, Gao Y, Lu J, Chen B, Zhang L, Yan X, Sun Y, Zhang L, Liu J, Dai H, Hou L, Li X, Li J.   +13 more
europepmc   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome. [PDF]

Int J Mol Sci
Zemlianaia OA, Kalinkin AI, Tanas AS, Efremova AV, Volodin IV, Ismagilova OR, Smirnov AS, Zaletaev DV, Nemtsova MV, Kutsev SI, Strelnikov VV.   +10 more
europepmc   +1 more source

ESTERASE GENETICS IN MUS MUSCULUS: EXPRESSION, LINKAGE, AND POLYMORPHISM OF LOCUS Es-2

, 1969
Frank H. Ruddle, Thomas B. Shows, Thomas H. Roderick   +2 more
openalex   +2 more sources

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes [PDF]

, 2011
Eugénie Mutez, Frédéric Leprêtre, Émilie Le Rhun, Lydie Larvor, Aurélie Duflot, Vincent Mouroux, Jean‐Pierre Kerckaert, Martin Figeac, Kathy Dujardin, A. Destée, Marie‐Christine Chartier‐Harlin   +10 more
openalex   +1 more source

The MMP‐9/TIMP‐1 Ratio and Concentrations of Osteopontin Are Elevated in Cerebrospinal Fluid of People With Multiple Sclerosis and Decrease After Autologous Hematopoietic Stem Cell Transplantation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic, Ida Erngren, Kim Kultima, Anders Larsson, Malin Müller, Anna Wiberg, Joachim Burman   +6 more
wiley   +1 more source

diplo-locus: a lightweight toolkit for inference and simulation of time-series genetic data under general diploid selection. [PDF]

G3 (Bethesda)
Cheng X, Steinrücken M.
europepmc   +1 more source

JCAD: from systems genetics identification to the experimental validation of a coronary artery disease risk locus [PDF]

, 2019
Evan G. Williams, Sokrates Stein
openalex   +1 more source