Results 111 to 120 of about 56,079,611 (245)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Genotyping-by-sequencing for genetic improvement in dairy goats

, 2018
This paper describes two dairy goat farms which have introduced genotyping by sequencing (GBS) into their operations to allow genetic improvement without the use of recorded parentage.
Ken Dodds (3501542), Rudiger Brauning (47247), Shannon Clarke (3504989), John McEwan (45371), Tracey Van Stijn (10380614), Sandy Cameron (15399512), Mary Wheeler (15395438), Judy Foote (15399509), Barry Foote (15399506)   +8 more
core  

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Genotyping-By-Sequencing for diverse applications including population genetics

, 2018
Genotyping-by-Sequencing (GBS) is a method used to develop rapid and cost-effective high-density genetic SNP marker data for diverse applications in biology.
Shannon Clarke (3504989), Andrew Griffiths (3440687), Rachael Ashby (15393782), Marty Faville (5072459), John McEwan (45371), Tracey Van Stijn (10380614), Rayna Anderson (3504983), Mingshu Cao (5072465), Rudiger Brauning (47247), Ken Dodds (3501542), Rachel Tan (4605598), Jeanne Jacobs (4091890), Alan McCulloch (517237)   +12 more
core  

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Arterial Spin‐Labeling MRI at the Cortical‐CSF Interface: A Novel Biomarker in Alzheimer Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background/Objective Arterial spin‐labeling (ASL) MRI can measure perfusion signal adjacent to CSF spaces and may provide information regarding CSF‐adjacent water transport physiology. We developed an automated pipeline to extract cortical‐CSF interface (IF) perfusion for comparison between Alzheimer disease (AD) and cognitively normal ...
Mona Asghariahmadabad, Pouya Metanat, Michael Thomas, Luke W. Bonham, Tyson Lam, Mehmet Kurt, Hong Nguyen, Tara Ellingson, Mauro Zucchelli, Stefano Casagranda, Quin Lu, Andreas M. Rauschecker, Leo Sugrue, Luis E. Savastano, Christopher P. Hess, Kamalini Ranasinghe, S. Andrew Josephson, Bruce L. Miller, Jennifer S. Yokoyama, Gil D. Rabinovici, Peter A. Ljubenkov, Lawren VandeVrede, Kambiz Nael   +22 more
wiley   +1 more source

Optimisation of sequencing effort for relatedness estimation using genotyping-by-sequencing

, 2015
Genotype-based relatedness estimation underlies pedigree reconstruction, genomic selection and some association mapping methods. Genotyping-by-sequencing provides genotypes from sequencing data.
Ken Dodds (3501542), Rudiger Brauning (47247), Shannon Clarke (3504989), John McEwan (45371)   +3 more
core  

Predictive ability of genomic selection models in a multi-population perennial ryegrass training set using genotyping-by-sequencing

, 2022
Genomic prediction models for multi-year dry matter yield, via genotyping-by-sequencing in a composite training set, demonstrate potential for genetic gain improvement through within-half sibling family selection.
Roger Moraga (517238), Sydney Easton (15445181), Timothy Bilton (15394454), Andrew Griffiths (3440687), Marty Faville (5072459), Zulfi Jahufer (5812460), Brent Barrett (3440669), Jana Schmidt (641930), Mingshu Cao (5072465), Douglas Ryan (15397076), Rachel Tan (4605598), Siva Ganesh (607045), Philip Rolston (15403877), Jason Trethewey (15394670), Casey Flay (15396104)   +14 more
core  

Genetic diversity and population structure analysis in Asparagus officinalis

Journal of Genetic Engineering and Biotechnology
Asparagus cultivars grown worldwide are thought to have originated from a limited genetic base, however, selection has resulted in variation for climatic adaptation and other traits.
Gurleen Sidhu, Travis Banks, David Wolyn
doaj   +1 more source