Results 111 to 120 of about 1,412,344 (374)

A Mental Retardation-linked Nonsense Mutation in Cereblon Is Rescued by Proteasome Inhibition*

Journal of Biological Chemistry, 2013
Background: A nonsense mutation in cereblon, which results in the loss of the last 24 amino acids in the protein, causes mental retardation. Results: This mutant form of cereblon undergoes autoubiquitination by a CRL4 E3 ligase complex, leading to ...
Guoqiang Xu, Xiaogang Jiang, S. Jaffrey
semanticscholar   +1 more source

Direction of Translation and Size of Bacteriophage [var phi]X174 Cistrons [PDF]

, 1972
Translation of the bacteriophage [var phi]X174 genome follows cistron order D-E-F-G-H-A-B-C. To establish this, the position of a nonsense mutation on the genetic map was compared with the physical size (molecular weight) of the appropriate protein ...
Benbow, Robert M., Mayol, Robert F., Picchi, Joanna C., Sinsheimer, Robert L.   +3 more
core  

Stops making sense: translational trade-offs and stop codon reassignment [PDF]

, 2011
Background Efficient gene expression involves a trade-off between (i) premature termination of protein synthesis; and (ii) readthrough, where the ribosome fails to dissociate at the terminal stop. Sense codons that are similar in sequence to stop codons
A Eyre-Walker, A Tats, B Bonetti, Conrad P Lichtenstein, D Haig, D Kotlar, F Abascal, G Bertram, Greg S Elgar, H Liang, H Naora, H Seligmann, J Swire, James A Cotton, JP McCutcheon, L Kisselev, L Major, Louise J Johnson, M Adachi, M Pinotti, N Amrana, p David Polly, P Sicinski, PJ Keeling, PM Sharp, R Hershberg, RD Knight, RD Knight, Richard A Nichols, S Itzkovitz, S Karlin, S Osawa, Steven C Le Comber, TH Jukes   +33 more
core   +4 more sources

Novel LMF1 Nonsense Mutation in a Patient with Severe Hypertriglyceridemia [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2009
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 ...
Maurizio Averna, Sebastiano Squatrito, Marja-Riitta Taskinen, Fen Yin, Fen Yin, Fen Yin, Patrizia Tarugi, H. Hilden, Riccardo Vigneri, Maria Luisa Arpi, Rossella Spina, Antonio Carroccio, Davide Noto, Angelo B. Cefalù, Miklós Péterfy, Miklós Péterfy, Miklós Péterfy, Carlo M. Barbagallo   +17 more
openaire   +5 more sources

LEDGF Binds H3R17me2a Promoting De Novo Nucleotide Biosynthesis in SETD2 Mutant Clear Cell Renal Cell Carcinoma

Advanced Science, EarlyView.
In SETD2‐mutant ccRCC, the original LEDGF recognition of the H3K36me3 regulatory axis no longer exists. LEDGF interacts with CARM1‐dependent H3R17me2a regulating the transcription of key enzymes in the de novo synthesis pathway. The abnormally elevated LEDGF leads to the accumulation of purine nucleotides in SETD2‐mutant ccRCC, thereby satisfying the ...
Yuwei Zhang, Yuhua Zhou, Yuezhou Zhang, Jing Lv, Yang Shen, Dong Zhang, Bo Liu, Wei Zhao, Junyi Ju, Qingyi Zhu, Ke Wang, Ninghan Feng   +11 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

Annals of Indian Academy of Neurology, 2011
Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described.
Meral Özmen, Cengiz Dilber, Burak Tatli, Nur Aydinli, Mine Çaliskan, Baris Ekici   +5 more
doaj   +1 more source

Systematic associations between germ-line mutations and human cancers [PDF]

, 2016
YesThe revolution in Big Data has opened the gate for new research challenges in biomedical science. The aim of this study was to investigate whether germ-line gene mutations are a significant factor in 29 major primary human cancers. Using data obtained
Al-Shammari, Mohamad H., Peng, Yonghong, Tobin, Desmond J.   +2 more
core   +1 more source

GbSER02 Interacts With GhVOZ1 to Promote Fiber Elongation by Modulating Gibberellin Synthesis in Cotton

Advanced Science, EarlyView.
GbSER02 with a single base change (SNP517G) encodes normal serpin protein and interacts with transcription factor VOZ1 to alleviate the repression of VOZ1 on GA3ox1 and promote GA3 biosynthesis. Further, GA3 induces the expression of cell wall loosening‐related genes and decreases flavonoid content, ultimately facilitating fiber cell elongation in ...
Hao Jia, Dongmei Zhang, Qishen Gu, Yanbin Li, Jing Li, Wannian Li, Zhengwen Sun, Huifeng Ke, Jun Yang, Liqiang Wu, Yan Zhang, Zhiying Ma, Xingfen Wang   +12 more
wiley   +1 more source

Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

BMC Medical Genetics, 2018
Background X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH).
Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan, Yongping Song   +4 more
doaj   +1 more source