Results 91 to 100 of about 19,235 (265)

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

Advanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang, Meiyun Wang, Peng Zhang, Jingliang Cheng, Longjiang Zhang, Wenzhen Zhu, Shijun Qiu, Zuojun Geng, Guangbin Cui, Yongqiang Yu, Weihua Liao, Xi‐Nian Zuo, Hui Zhang, Bo Gao, Xiaojun Xu, Tong Han, Zhenwei Yao, Quan Zhang, Feng Liu, Qiang Xu, Jiayuan Xu, Jilian Fu, Nana Liu, Yuan Ji, Jie Tang, Lining Guo, Mengge Liu, Xiaoxiao Xiao, Xiaoxuan Liu, Wei Li, Caihong Wang, Wei Wei, Dapeng Shi, Su Lui, Zhihan Yan, Feng Chen, Jing Zhang, Wen Shen, Yanwei Miao, Dawei Wang, Jia‐Hong Gao, Yunjun Yang, Kai Xu, Junfang Xian, Bing Zhang, Xiaochu Zhang, Zhaoxiang Ye, Le Yu, Wen Qin, Meng Liang, Chunshui Yu, the CHIMGEN Consortium   +51 more
wiley   +1 more source

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

Advanced Science, EarlyView.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen, Houcheng Li, Jinyan Teng, Zhen Wang, Xiaolu Qu, Zhe Chen, Xiaodian Cai, Haonan Zeng, Zhonghao Bai, Jinghui Li, Xiangchun Pan, Leyan Yan, Fei Wang, Lin Lin, Yonglun Luo, Goutam Sahana, Mogens Sandø Lund, Maria Ballester, Daniel Crespo‐Piazuelo, Peter Karlskov‐Mortensen, Merete Fredholm, Alex Clop, Marcel Amills, Crystal Loving, Christopher K. Tuggle, Ole Madsen, Jiaqi Li, Zhe Zhang, George E. Liu, Jicai Jiang, Lingzhao Fang, Guoqiang Yi   +31 more
wiley   +1 more source

Development and Characterization of 11 Polymorphic Microsatellite Markers in Tapiscia sinensis (Staphyleaceae)

Applications in Plant Sciences, 2013
Premise of the study: We developed and characterized five polymorphic microsatellite loci from an AC-enriched genomic library of a rare tree, Tapiscia sinensis, and six compound microsatellite primers using a dual-suppression-PCR–based approach, to ...
Pengfei Zhang, Zhiguang Wang, Yaling Liu, Hua Tian, Xiaohong Yao, Jinju Zhang   +5 more
doaj   +1 more source

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Journal of the American College of Cardiology, 2004
We sought to determine the frequency and phenotype of mutations in myosin binding protein C (MYBPC3) in a large outpatient cohort of patients with hypertrophic cardiomyopathy (HCM) seen at our tertiary referral center.Mutations in MYBPC3 are one of the most frequent genetic causes of HCM and have been associated with variable onset of disease and ...
Van Driest, Sara L., Vasile, Vlad C., Ommen, Steve R., Will, Melissa L., Tajik, A.Jamil, Gersh, Bernard J., Ackerman, Michael J.   +6 more
openaire   +2 more sources

Neddylation Targets and Stabilizes NLRP3 to Augment Inflammasome‐Mediated Colitis and Mood Disorder

Advanced Science, EarlyView.
NLRP3 inflammasome contributes to colitis and mood disorder. This study demonstrates that neddylation targets NLRP3 at K287, which hinders its interaction with K48‐linked ubiquitination E3 Trim31 and thereby stabilizes it. Neddylation blockade in myeloid cells and microglia mitigates DSS‐induced colitis and psychological stress‐induced anxiety‐like ...
Wenbin Gai, Mengyao Wu, Anbiao Wu, Zhaofei Jing, Zhenjie Ye, Jiayan Jin, Yaolin Zhang, Min Zhao, Genyu Liu, Xu Wang, Xiqin Yang, Jie Dong, Yunlu Xu, Jiyan Zhang   +13 more
wiley   +1 more source

β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β0‐thalassemia mutation [PDF]

, 2000
Edmond S.K., Eudora Y. D. Chow, Amy Y. Y. Chan, Nelson N.S. Kung, John S. Waye, L.C. Chan, David H.K. Chui   +6 more
openalex   +1 more source

Mitochondrial Calcium Uniporter Drives Chemoresistance in Pancreatic Cancer via Glutathione‐Mediated Stemness Maintenance

Advanced Science, EarlyView.
PDAC has a poor prognosis due to chemoresistance. We revealed that MCU upregulation is associated with chemoresistance and stemness in PDAC. MCU‐mediated Ca2+ influx induced ER stress, activating the PERK‐ATF4/NRF2 axis to enhance PSAT1/SLC711 expression and glutathione synthesis, reducing ROS and maintaining stemness.
Zekun Li, Chenyang Meng, Guangcong Shen, Yueying Shan, Junjin Wang, Diliyaer Abudukeremu, Rui Zhao, Bo Ni, Chao Xu, Xiaofan Guo, Jun Yu, Kaiyuan Wang, Shengyu Yang, YunZhan Li, Yongjie Xie, Tianxing Zhou, Jihui Hao, Xiuchao Wang   +17 more
wiley   +1 more source

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

Clinical Case Reports, 2018
Key Clinical Message Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding RNU4ATAC gene could be identified in a ...
Ariane Hallermayr, Janine Graf, Udo Koehler, Andreas Laner, Brigitte Schönfeld, Anna Benet‐Pagès, Elke Holinski‐Feder   +6 more
doaj   +1 more source

Double heterozygous HbQ India/HbD Punjab hemoglobinopathy: A rare case report

Journal of Dr. NTR University of Health Sciences, 2015
Hemoglobinopathies constitute the most common genetic diseases in the world. In India, both beta-thalassemia and structural hemoglobin variants, such as hemoglobin S (HbS), hemoglobin D (HbD), and hemoglobin E (HbE), are common and pose significant ...
Sujani C Madabhushi, Uma Swarup Nugoori, Kiran Kumar Doppalapudi, Mukesh Agrawal   +3 more
doaj   +1 more source

Neural Circuits between Nodose Ganglion and Pulmonary Neuroendocrine Cells Regulate Lung Inflammatory Responses

Advanced Science, EarlyView.
TRPA1+αCGRP+ sensory neurons in the nodose ganglion detect external insults such as lipopolysaccharide (LPS) and interact directly with pulmonary neuroendocrine cells (PNECs), promoting their activation and proliferation. This neural‐epithelial interaction amplifies lung inflammation.
Jie Chen, Shitao Xie, Zhekai Lin, Caiqi Zhao, Rujia Tao, Yingying Ma, Xiaoyan Chen, Renlan Wu, Qingjian Han, Pengfei Sui, Sheng Wang, Hongbin Ji, Hai Song, Xiaoming Zhang, Yangang Sun, Yuanlin Song, Xiao Su   +16 more
wiley   +1 more source