Results 101 to 110 of about 2,747,199 (303)

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD

Hepatology Communications, 2018
Nonalcoholic fatty liver disease (NAFLD) is a heterogeneous disease with highly variable outcomes. Patients with simple steatosis typically experience a benign course, whereas those with more advanced liver injury, nonalcoholic steatohepatitis (NASH ...
Sarah E. Kleinstein, Matthew Rein, Manal F. Abdelmalek, Cynthia D. Guy, David B. Goldstein, Anna Mae Diehl, Cynthia A. Moylan   +6 more
doaj   +1 more source

Overview of whole exome sequencing data production.

, 2013
Overview of whole exome sequencing data production.
Jia-Jun Lu (350535), Jian-Shan Han (350530), Jin-Quan Wang (350531), Jian-Guo Zhang (48581), Hang-Yang Jin (350529), Rong-Biao Ying (350527), Zhen-Fang Du (350526), Wen-Ting Liu (350534), Jun Fei (350528), Xiao-Ping Qi (350524), Xian-Ning Zhang (350537), Chun-Yue Chen (350533), Xiao-Ling Chen (350532), Ju-Ming Ma (350525)   +13 more
core   +1 more source

Allele-specific copy number estimation by whole exome sequencing [PDF]

, 2017
Whole exome sequencing is currently a technology of choice in large-scale cancer genomics studies, where the priority is to identify cancer-associated variants in coding regions. We describe a method for estimating allele-specific copy number using whole
Katherine L. Nathanson, Hao Chen, Maxwell, Kara N, Zhang, Nancy, Kara N. Maxwell, Yuchao Jiang, Jiang, Yuchao, Nancy Zhang, Chen, Hao, Nathanson, Katherine L   +9 more
core   +1 more source

Characteristics of study sample for whole exome sequencing.

, 2022
Characteristics of study sample for whole exome sequencing.
Pingxing Xie (290131), Ian R. White (7774799), Thomas J. Urban (12407197), Sarah E. Kleinstein (10983185), Jessica M. Maia (12407194), Chris Chamberlain (12407191), Duncan McHale (6380621), Christophe Praet (12407188), David B. Goldstein (7949105), Patrick R. Shea (12407200)   +9 more
core   +1 more source

Nucleoside‐Modified mRNA Encoding Alpha‐Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC‐Derived Cardiomyocytes

Advanced Science, EarlyView.
Human iPSC‐derived Fabry cardiomyocytes exhibited broad transcriptional dysregulation, apoptosis, mitochondrial dysfunction, impaired reactive oxygen species handling, altered contractility, and abnormal calcium transient decay, potentially mediated by phospholamban hyperphosphorylation.
Malte Juchem, Lea Oehlsen, Sedef Ersoy, Jia Li Ye, Natalie Weber, Elisa Mohr, Wilson Agyapong, Junqing Liu, Maximilian Fuchs, Ke Xiao, Christopher Jahn, Reto Eggenschwiler, Tobias Cantz, Julia Beimdiek, Falk F. R. Buettner, Theresia Kraft, Jan Hegermann, Ivonne J. Knorr, Lisa Ernst, Linda Feldbrügge, Resa Puffert, Kevin Schmidt, Christian Bär, Jeannine Hoepfner, Thomas Thum   +24 more
wiley   +1 more source

Overcoming Drug Resistance by Paclitaxel Resistance in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
In the murine triple‐negative breast cancer (TNBC) model, chemotherapy effectively increases tumor neoantigen burden (TNB). Here, the study constructs a liposomal nanovaccine using antigens derived from in vitro chemotherapy‐treated paclitaxel‐resistant TNBC 4T1 cells.
Bo Chen, Yangyi Wang, Tingting Li, Changqing Guo, Zhe Xie, Zhixian Zhang, Xinghua Han, Wei Wang, Jian Wang, Xiaopeng Ma, Yuanzeng Min   +10 more
wiley   +1 more source

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies

BMC Pregnancy and Childbirth
Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin, Jiawei Hong, Yuqing Xu, Yeqing Qian, Shuning Han, Minyue Dong   +5 more
doaj   +1 more source

Whole-exome sequencing association analysis of 57 individuals (11 cases with sinusoidal obstruction syndrome and 46 controls), genes with the strongest association, sorted by adjusted association metric.

, 2023
Whole-exome sequencing association analysis of 57 individuals (11 cases with sinusoidal obstruction syndrome and 46 controls), genes with the strongest association, sorted by adjusted association metric.
Marc Ansari (447428), Simona Jurkovic Mlakar (10943896), Maja Krajinovic (31205), Henrique Bittencourt (447430), Isabelle Dupanloup (11326), Claudia E. Kuehni (7583648), Mohamed Aziz Rezgui (15188234), Tiago Nava (11987821), Nicolas Waespe (15188231)   +8 more
core   +1 more source