Results 61 to 70 of about 375,450 (258)

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

Information about the 43-SNP-based molecular barcode and diversity among panel 1 accessions. [PDF]

, 2016
Information about the 43-SNP-based molecular barcode and diversity among panel 1 accessions.
LiFeng Gao (3177816), XiuYing Kong (3177813), JiZeng Jia (3177819)   +2 more
core   +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

SNP-based heritabilities () on the diagonal and genetic correlations on the lower triangle (with standard errors). [PDF]

, 2018
SNP-based heritabilities () on the diagonal and genetic correlations on the lower triangle (with standard errors).
Iulia Blaj (5848967), Siegfried Preuß (3565562), Georg Thaller (151783), Jörn Bennewitz (3565547), Jens Tetens (132258)   +4 more
core   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Similarity Measures for Clustering SNP Data [PDF]

The issue of suitable similarity measures for a particular kind of genetic data – so called SNP data – arises from the GENICA (Interdisciplinary Study Group on Gene Environment Interaction and Breast Cancer in Germany) case-control study of sporadic ...
Ickstadt, Katja, Selinski, Silvia
core  

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level 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 systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Similarity Measures for Clustering SNP and Epidemiological Data [PDF]

The issue of suitable similarity measures for a joint consideration of so called SNP data and epidemiological variables arises from the GENICA (Interdisciplinary Study Group on Gene Environment Interaction and Breast Cancer in Germany) casecontrol study ...
Selinski, Silvia
core  

Spatially‐Resolved Coherence of Organic Molecular Spins at Room‐Temperature

Advanced Functional Materials, EarlyView.
Molecular spin qubits are emerging as a promising quantum sensing technology. This paper studies the variation in coherence and sensitivity in both crystalline and thin‐film samples by combining microscopy and room temperature optically detected coherent control.
Adrian Mena, Nicholas P. Sloane, Max R. Bonengel, Cameron M. Gould, Scott A. Sulway, Dane R. McCamey   +5 more
wiley   +1 more source

A Rare Allele of ST5 From Wild Rice Enhances Salt Tolerance in Rice

Advanced Science, EarlyView.
A novel salt‐tolerance gene ST5W, characterized by a unique 36‐bp promoter insertion, is found exclusively in a small subset of Oryza rufipogon and is absent in cultivated rice. Field trials confirm ST5W significantly enhances rice yield across diverse genetic backgrounds under saline conditions.
Meng Xing, Jingfen Huang, Qiaoling Yuan, Ziyi Yang, Yanyan Wang, Mingchao Zhao, Yamin Nie, Rui Xu, Hongge Qian, Wenxi Chen, Qiaoling Zhang, Qi Du, Leiyue Geng, Yapeng Li, Ziyi Chen, Shizhuang Wang, Like Lou, Haiyuan Peng, Chongke Zheng, Xianzhi Xie, Xiaoming Zheng, Lifang Zhang, Lianguang Shang, Jiaqiang Sun, Qian Qian, Qingwen Yang, Weihua Qiao   +26 more
wiley   +1 more source