Results 261 to 270 of about 8,412,468 (340)

Identification and genotype-phenotype correlation of <i>RNF213</i> p.R4810K and non- p.R4810K variants in Moyamoya disease in an Indian cohort. [PDF]

Front Neurol
Sylaja PN, Paul R, Madhusoodanan UK, Kumar NS, Nair LJ, Sarma PS, Fasaludeen A, Kumar S, Jayadevan ER, Pachat D, Sreedharan SE, Sudhir BJ, Muneeb Hamza KH, Anjana Madhu MV, Banerjee M.   +14 more
europepmc   +1 more source

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

Sex-different phenotypic correlations: Due to genes or environment?

Fritz A, Darrous L, Bønnelykke K, Pedersen AG, Kutalik Z.   +4 more
europepmc   +1 more source

Combining genomic prediction and multi-trait indices through stochastic simulations: do index type and deployment order affect genetic gain? [PDF]

Theor Appl Genet
Fritsche-Neto R, Queiroz LGC, Viana J, Gupta K, Grover K, DoVale JC.   +5 more
europepmc   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Genomic prediction of agronomic traits in a switchgrass (Panicum virgatum L.) half-sib progeny panel evaluated across multiple environments. [PDF]

Plant Genome
Irfan JA, Abeyratne CR, Chhetri HB, Hyatt D, Makaju SO, Daum C, Bauer D, Lipzen A, Barry K, Jacobson D, Mazarei M, Stewart CN, Missaoui AM.   +12 more
europepmc   +1 more source