Results 111 to 120 of about 1,544,422 (378)

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

PLoS ONE, 2013
Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited ...
P. Gueguen, Karen Rouault, Jian-Min Chen, O. Raguénès, Y. Fichou, E. Hardy, E. Gobin, Brigitte Pan-petesch, M. Kerbiriou, P. Trouvé, P. Marcorelles, J. Abgrall, C. Le Maréchal, C. Férec   +13 more
semanticscholar   +1 more source

Case Report: A Missense Mutation of KIT in Hyperpigmentation and Lentigines Unassociated With Systemic Disorders: Report of a Chinese Pedigree and a Literature Review [PDF]

, 2022
Lu Yang, Yuehua Liu, Tao Wang
openalex   +1 more source

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

MoKCa database - mutations of kinases in cancer [PDF]

, 2009
Members of the protein kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and activated protein kinases have proved to be tractable targets for the development of new anticancer therapies The MoKCa database ...
Alfarano, Altschul, Berman, Braconi Quintaje, Bruford, Burnworth, Chatr-aryamontri, Christopher J. Richardson, Clifford, Costas Mitsopoulous, Daley, Diella, Fernández, Finn, Flicek, Forbes, Frances M. G. Pearl, Gene Ontology Consortium, Greenman, Greenman, Hanahan, Hulo, Kaminker, Kaminker, Kerrien, Koorstra, Lappalainen, Laurence H. Pearl, Letunic, Manning, Marketa Zvelebil, Mishra, Ng, O'Brien, Ortutay, Pagel, Pearl, Qiong Gao, Sawyers, Sjöblom, Stark, Torkamani, UniProt Consortium, Vastrik, Velankar, Wheeler, Wood, Yeats   +47 more
core   +3 more sources

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome

Human Mutation, 2013
Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%–25% of BrS patients carry genetic defects that cause loss‐of‐function of the voltage‐gated cardiac sodium channel. Thus, 70%–75% of patients remain without a genetic
Helena Riuró, Pedro Beltran-Alvarez, Anna Tarradas, E. Selga, Ó. Campuzano, M. Vergés, S. Pagans, Anna Iglesias, J. Brugada, P. Brugada, Francisco M. Vázquez, G. Pérez, F. Scornik, R. Brugada   +13 more
semanticscholar   +1 more source

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets

Advanced Science, EarlyView.
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Huixiao Wu, Wanyi Zhao, Xinyu Chen, Yanzhou Wang, Shuoshuo Wei, Bo Xiang, Yingzhou Shi, Zongyue Li, Yangyang Yao, Jin Xie, Renyuan Qiu, Meng Shu, Shuo Xu, Ping Chen, Zhiying Chen, Yingjie Wu, Weibo Xia, Ling Gao, Yongfeng Song, Jiajun Zhao, Chao Xu   +20 more
wiley   +1 more source

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype

Hereditas
Background Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu, Liping Zheng, Zhehao Dai, Jun Zhu, Peng Xie, Shun Yang, Fei Chen   +6 more
doaj   +1 more source

Effect of bet missense mutations on bromodomain function, inhibitor binding and stability [PDF]

, 2016
Lysine acetylation is an important epigenetic mark regulating gene transcription and chromatin structure. Acetylated lysine residues are specifically recognized by bromodomains, small protein interaction modules that read these modification in a ...
Alessandra, Pasquo, Chiaraluce, Roberta, Consalvi, Valerio, Cynthia, Tallant, Lori, Clorinda, Lori, Laura, Petrosino, Maria, Stefan, Knapp   +7 more
core   +2 more sources

Intellectual disability associated with a homozygous missense mutation in THOC6

Orphanet Journal of Rare Diseases, 2013
BackgroundWe recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families.
C. Beaulieu, Lijia Huang, A. Innes, A. Innes, M. Akimenko, E. Puffenberger, C. Schwartz, P. Jerry, C. Ober, R. Hegele, D. R. Mcleod, D. R. Mcleod, J. Schwartzentruber, J. Majewski, D. Bulman, J. Parboosingh, J. Parboosingh, K. Boycott   +17 more
semanticscholar   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source