Results 131 to 140 of about 1,702,970 (343)

Bioinformatics Profiling Of Missense Mutations

, 2009
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of ...
I. Nassiri, B. Goliaei, M. Tavassoli
openaire   +1 more source

Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk

Advanced Science, EarlyView.
Integration of a pancreatic eQTL map with a GWAS meta‐analysis identifies 82 putative functional variants and 15 genes. The association between rs11102484 and pancreatic cancer risk is observed in a total of 5699 cases and 8467 controls. The G allele of rs11102484 weakens ZNF263 binding and the silencer‐promoter interaction, thereby increasing ST7L ...
Xiaoyang Wang, Hui Geng, Zhengyan Yao, Yuan Jiang, Can Chen, Zequn Lu, Shuangshuang Tian, Ming Zhang, Ruiyan Liu, Chenxi Feng, Bin Li, Xiaoping Miao, Jianbo Tian, Shaokai Zhang, Ying Zhu   +14 more
wiley   +1 more source

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed, Ayyagari, Radha, Cabrera, Patricia E, Chen, Jianjun, Chen, Yabin, Govindarajan, Gowthaman, Gupta, Nikhil, Hejtmancik, J Fielding, Huang, Li, Jiang, Dan, Jiao, Xiaodong, Jin, Chongfei, Khan, Shaheen N, Li, Jiali, Li, Lin, M'hamdi, Oussama, Ma, Xiaoyin, Ma, Yan, Ma, Zhiwei, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Sieving, Paul A, Sun, Wenmin, Tanwar, Mukesh   +24 more
core   +1 more source

Development and Structural Characterization of UTE‐156, a Covalent Inhibitor of the VCP/p97 AAA+ ATPase

Advanced Science, EarlyView.
The AAA+ ATPase Valosin‐containing protein (VCP/p97) regulates protein homeostasis by unfolding ubiquitinated substrates. Here, we describe UTE‐156, a novel irreversible covalent inhibitor that modifies Cys522 in the D2 ATPase motor domain. Although its pharmacochemical limitations preclude immediate therapeutic use, UTE‐156 serves as a valuable ...
Daniela Tamayo‐Jaramillo, Subramanya Hegde, Xuan Jia, Kimberly Coffman, Hariprasad Vankayalapati, David Bearss, Kevin B. Jones, Alex W. Stark, Peter S. Shen   +8 more
wiley   +1 more source

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer [PDF]

, 2002
BACKGROUND: Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified
Dalton, Ann, Harirchi, Iraj, Hornby, David P., Jarvandi, Soghra, Mohagheghi, Mohammad A., Yassaee, Vahid R., Zeinali, Sirous   +6 more
core   +2 more sources

Pancancer Fine‐Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma

Advanced Science, EarlyView.
This study identifies mutation‐intolerant genes (MIGs), which are mutationally constrained in tumors despite normal‐tissue variability. Using miDriver, the authors pinpoint MIGs essential for tumor‐intrinsic fitness and immune evasion. Focusing on CHEK1, they show it drives tumor fitness and sculpts an immunosuppressive niche via the MIF–CD74 axis ...
Tao Wang, Hongyu Zhao, Xiaojie Sun, Yuqi Ding, Zhipeng Zhu, Xiaotong Yu, Rongyi Zhu, Dan Wang, Kailong Li, Yang Liu, Li‐Bin Wang, Xiaolu Zhao, Baojun Suo, Hongsen Bi, Peipei Zhang, Tong Liu, Fengbiao Mao   +16 more
wiley   +1 more source

Generation of CCR4/CD7 Bispecific CAR‐T Cells Resistant to Fratricide and Exhaustion

Advanced Science, EarlyView.
The applications of CAR T‐cell therapy in T‐cell malignancies face limitations such as fratricide, effector‐cell exhaustion, and antigen‐escape. Herein, we developed fratricide‐ and exhaustion‐resistant CAR‐T cells that targeted CCR4 and CD7 simultaneously, with optional EGFRt safety switch. Additionally, scRNA‐seq unveiled new molecular targets, which
Sile Li, Yuanxin Li, Asif Rashid, Hong Kee Tan, Shing Chan, Man Yan Hui, Wilson Yau Ki Chan, Kee See Lam, Yinping Liu, Wenwei Tu, Wing Leung   +10 more
wiley   +1 more source

Congenital tooth agenesis-related EDAR variants and pedigree analysis of HED patients with two variants

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To explore EDAR (ectodysplasin A receptor) gene variants that lead to congenital tooth agenesis, and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with ...
LAN Rong, DAI Qinggang, YU Kang, BIAN Xiaoling, YE Lijuan, WU Yiqun, WANG Feng   +6 more
doaj   +1 more source

Missense Mutation in AR-CGD

, 2012
Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to
Köker, M. Yavuz, Avcilar, Hüseyin
openaire   +3 more sources

DNA Replication Errors Drive Genome‐Wide Small Inverted Triplication Dynamics

Advanced Science, EarlyView.
This study provides insight into the dynamic equilibrium mechanism of a novel structural variant, small inverted triplication (SIT), which is generated by misalignment of the 3’ flap generated under DNA replication stress with palindromic sequence. Alternatively, the end sequence may fold back on itself to form an inverted fragment.
Yi Lei, Yu Zhou, Haitao Sun, Hang Yuan, Xinyu Pei, Jessica D. Hess, Yao Yan, Zunsong Hu, Mian Zhou, Zhaohui Gu, Li Zheng, Xiwei Wu, Binghui Shen   +12 more
wiley   +1 more source