Results 91 to 100 of about 1,404,124 (275)

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation [PDF]

, 2004
Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy.
De Groot, WP, De Weerdt, CJ, Gedde-Dahl, T, Hoyheim, B, Jonkman, MF, Koss-Harnes, D, Nikolic, B, Wiche, G   +7 more
core   +1 more source

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation [PDF]

, 2016
Background: Breast cancer risk increases drastically in individuals carrying a germline BRCA1 mutation. The exposure to ionizing radiation for diagnostic or therapeutic purposes of BRCA1 mutation carriers is counterintuitive, since BRCA1 is active in the
A Pijpe, A Vral, Anne Vral, Annelot Baert, B Ernestos, Bruce Poppe, D Goldfrank, E Febrer, EKJ Pauwels, EM John, F Cardinale, FJ Couch, Fransiska Malfait, G Sioftanos, GE Pantelias, Gianpaolo Perletti, GJ Heyes, H Nikjoo, I Cousineau, IM Obdeijn, J Barwell, J Depuydt, J Gronwald, J Lecarpentier, JC Drooger, JC Théry, Jenneke van den Ende, JL Bernheim, JM Hair, Julie Depuydt, K Claes, K Claes, K Claes, K Leeneer De, Kathleen B. M. Claes, Katrien Storm, KE Rieger, Kim De Leeneer, KW Caestecker, L Perrin-Vidoz, L Salmena, M Frankenberg-Schwager, M Sedic, ME Dextraze, MS Sasaki, N Andrieu, N Foray, N Li, O Anczuków, O Popanda, P Pfeiffer, P Willems, R Roy, RI Yarden, RJ Linger, S Gutiérrez-Enríquez, S Pathania, SA Narod, Sylvia De Nobele, T Vaclová, TA Buchholz, Tim Van Damme, Tom Van Maerken, U Hagen, V Giannakeas, WD Foulkes, Z Guo, Z Kote-Jarai   +67 more
core   +4 more sources

Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia

Molecular Genetics & Genomic Medicine
Background Familial hypercholesterolemia (FH) is a hereditary disease caused mainly by mutations in the gene encoding the low‐density lipoprotein receptor (LDLR).
Kaihan Wang, Tingting Hu, Mengmeng Tai, Yan Shen, Shaoyi Lin, Yongjuan Guo, Xiaomin Chen   +6 more
doaj   +1 more source

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG   +8 more
doaj   +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

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

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

Diabetes mellitus and other pathology in patients with INS and INSR mutations

Сахарный диабет, 2012
Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules.
Yury Alexandrovich Pankov
doaj   +1 more source

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia

Molecular Genetics & Genomic Medicine, 2020
Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu   +4 more
doaj   +1 more source

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