Results 81 to 90 of about 524,252 (269)

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

BDNFVal66Met and 5-HTTLPR genotype are each associated with visual scanning patterns of faces in young children

Frontiers in Behavioral Neuroscience, 2015
Previous studies have documented both neuroplasticity-related BDNF Val66Met and emotion regulation-related 5-HTTLPR polymorphisms as genetic variants that contribute to the processing of emotions from faces. More specifically, research has shown the BDNF
Antonios I. Christou, Yvonne eWallis, Hayley eBair, Hayley eCrawford, Hayley eCrawford, Steven eFrisson, Maurice eZeegers, Joseph eMcCleery, Joseph eMcCleery   +8 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

GenEpi: gene-based epistasis discovery using machine learning. [PDF]

, 2020
BackgroundGenome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with ...
Alzheimer’s Disease Neuroimaging Initiative, Chang, Yu-Chuan, Chen, Chien-Yu, Giacomini, Kathleen M, Hong, Ming-Yi, Hsieh, Ping-Han, Oyang, Yen-Jen, Tung, Yi-An, Wu, June-Tai, Yee, Sook Wah   +9 more
core  

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients with Extra‐Renal Systemic Lupus Erythematosus – A Systematic Review & Meta‐analysis

Arthritis Care &Research, Accepted Article.
Background Clinical response to Mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with SLE, particularly those with extra‐renal ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Replication of a genome-wide association study on essential hypertension in Mongolians

Clinical and Experimental Hypertension, 2018
Replication of genome-wide significant association SNPs in independent populations is an essential approach for identifying gene–disease relationships.
Hongmei Li, Tong Wu, Shaoqing Wang, Xueyan Li, Yongqiang Qiu, Chunrong Lin, Changchun Qiu, Zhihui Deng, Li Zhou, Xiaojie Zhang   +9 more
doaj   +1 more source

Towards the Human Genotope [PDF]

, 2006
The human genotope is the convex hull of all allele frequency vectors that can be obtained from the genotypes present in the human population. In this paper we take a few initial steps towards a description of this object, which may be fundamental for ...
Huggins, Peter, Pachter, Lior, Sturmfels, Bernd   +2 more
core   +3 more sources

High‐Throughput SNP Genotyping [PDF]

ChemInform, 2002
AbstractWhole genome approaches using single nucleotide polymorphism (SNP) markers have the potential to transform complex disease genetics and expedite pharmacogenetics research. This has led to a requirement for high‐throughput SNP genotyping platforms. Development of a successful high‐throughput genotyping platform depends on coupling reliable assay
Jenkins, Suzanne, Gibson, Neil
openaire   +2 more sources