Results 191 to 200 of about 1,412,519 (351)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Geographic Divergence and Putative Candidate Gene Discovery of Rice Grain Quality in China. [PDF]

Rice (N Y)
Wang F, Cui D, Ma X, Zhu Z, Han B, Liu C, Wang C, Xiong Y, Long C, Li X, Han L.   +10 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Fine Mapping of <i>qSPJ_1</i> and Candidate Gene Identification for Soybean Seed Protein Content. [PDF]

Plants (Basel)
Chen J, Xie J, Li G, Shen M, Zheng Y, Meng F, Fan X, Sun X, Zhang Y, Wang M, Yang Z, Xiong X, Wang Q, Wang S, Jiang H.   +14 more
europepmc   +1 more source

Fine Mapping of Candidate Gene Controlling Anthocyanin Biosynthesis for Purple Peel in Solanum melongena L. [PDF]

Kai Xiao, Feng Tan, Aidong Zhang, Yaru Zhou, Weimin Zhu, Chonglai Bao, Dingshi Zha, Xuexia Wu   +7 more
openalex   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Associations of Candidate Gene Polymorphisms with Egg Production and Egg Quality Traits in Atak-S Laying Hens. [PDF]

Int J Mol Sci
Ilhan F, Aygun A.
europepmc   +1 more source

BioSilico- a functional genomics platform to identify novel candidate genes from gene expression data.

, 2005
Pushparaj, Louis Battuello, Chandan Sastry, Rennert Om   +3 more
openalex   +1 more source

Map based candidate gene cloning and functional analysis of genes involved in VLCFAs synthesis

, 2007
Fan Li
openalex   +2 more sources

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source