Results 241 to 250 of about 2,617,089 (305)

Transcription factor binding divergence drives transcriptional and phenotypic variation in maize. [PDF]

Nat Plants
Galli M, Chen Z, Ghandour T, Chaudhry A, Gregory J, Feng F, Li M, Schleif N, Zhang X, Dong Y, Song G, Walley JW, Chuck G, Whipple C, Kaeppler HF, Huang SC, Gallavotti A.   +16 more
europepmc   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Phenotypic variation in otolith shape of American shad across eastern North American rivers. [PDF]

Sci Rep
Vasconcelos J, Limburg KE, Oterro-Ferrer JL, Tuset VM.   +3 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

A Novel <i>KMT5B</i> Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation - A Case Report. [PDF]

Mol Syndromol
Özcan S, Yeter B.
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

Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort. [PDF]

Nat Commun
Zhang BL, Chen Y, Zhang Y, Qiao Y, Wu Y, Zhang Y, Lu Y, You X, Li Y, Huang HD, Wang Q, Li Y, Wang Y, Xiao W, Duan H, Qiu MH, Chen NH, Yu X, Yang MM, Lv L, Cooper DN, Zheng P, Yao YG, Liu N, Wang JH, Wu DD.   +25 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

Species-wide gene editing of a flowering regulator reveals hidden phenotypic variation. [PDF]

PLoS Biol
Lutz U, Bezrukov I, Schwab R, Yuan W, Kollmar M, Weigel D.   +5 more
europepmc   +1 more source

Phenotypic variation in populations of the mosquito vector, Aedes aegypti, and implications for predicting the effects of temperature and climate change on dengue transmission. [PDF]

PLoS Negl Trop Dis
Dennington NL, Grossman MK, Teeple JL, Johnson LR, Shocket MS, McGraw EA, Thomas MB.   +6 more
europepmc   +1 more source