Results 181 to 190 of about 922,149 (303)

Association between hot spring residency and dry eye disease: a crossover gene-environment interaction (GxE) study in Taiwan. [PDF]

Hum Genomics
Wu HY, Chang KJ, Chiu W, Wang CY, Lin YC, Hsu YT, Wen YC, Chiang PH, Chen YH, Dai HJ, Lu CH, Chen YC, Tsai HY, Chen YC, Hsu CH, Chiou SH, Yang YP, Hsieh AR, Hsu CC.   +18 more
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

PIGEON: a statistical framework for estimating gene-environment interaction for polygenic traits. [PDF]

Nat Hum Behav
Miao J, Song G, Wu Y, Hu J, Wu Y, Basu S, Andrews JS, Schaumberg K, Fletcher JM, Schmitz LL, Lu Q.   +10 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

High-Dimensional Gene-Environment Interaction Analysis. [PDF]

Annu Rev Stat Appl
Wu M, Li Y, Ma S.
europepmc   +1 more source

Pathological imaging-assisted cancer gene-environment interaction analysis. [PDF]

Biometrics, 2023
Fang K, Li J, Zhang Q, Xu Y, Ma S.
europepmc   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Interactive effects between lead-cadmium co-exposure and VEGFA gene polymorphisms on renal dysfunction: a gene-environment interaction study. [PDF]

Front Public Health
Deng Y, Wen Y, Duan W, Zhao Z, Li G, Zhou J, Yang L, Yang J, Sun Y, Qiu M, Liu L.   +10 more
europepmc   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Genome-wide gene-environment interaction study uncovers 162 vitamin D status variants using a precise ambient UVB measure. [PDF]

Nat Commun
Shraim R, Timofeeva M, Wyse C, van Geffen J, van Weele M, Romero-Ortuno R, Lopez LM, Kleber ME, Pilz S, März W, Fletcher BS, Wilson JF, Theodoratou E, Dunlop MG, McManus R, Zgaga L.   +15 more
europepmc   +1 more source