Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Nonsense mutation

Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish

Emma M. Lessieur, Ping Song, Gabrielle C. Nivar, Ellen M. Piccillo, Joseph Fogerty, Richard Rozic, Brian D. Perkins

published 10 Apr 2019

Loading metrics information...

Metrics unavailable. Please check back later.

Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

published 15 Mar 2019

Loading metrics information...

Metrics unavailable. Please check back later.

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

Andreea Nissenkorn, Yael Almog, Inbar Adler, Mary Safrin, Marina Brusel, Milit Marom, Shayel Bercovich, Daniel Yakubovich, Michal Tzadok, Bruria Ben-Zeev, Moran Rubinstein

published 08 Feb 2019

Loading metrics information...

Metrics unavailable. Please check back later.

The ezh2(sa1199) mutant zebrafish display no distinct phenotype

Bilge San, Julien Rougeot, Kai Voeltzke, Gertie van Vegchel, Marco Aben, Karolina M. Andralojc, Gert Flik, Leonie M. Kamminga

published 24 Jan 2019

Loading metrics information...

Metrics unavailable. Please check back later.

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J. Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V. Cervera, Jose M. Millan, Laia Pedrola

published 05 Dec 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo

Swarnima Joshi, Sanamjeet Virdi, Christelle Etard, Robert Geisler, Uwe Strähle

published 20 Nov 2018

Loading metrics information...

Metrics unavailable. Please check back later.

The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential

Westley J. Friesen, Briana Johnson, Jairo Sierra, Jin Zhuo, Priya Vazirani, Xiaojiao Xue, Yuki Tomizawa, Ramil Baiazitov, Christie Morrill, Hongyu Ren, Suresh Babu, Young-Choon Moon, Art Branstrom, Anna Mollin, Jean Hedrick, Josephine Sheedy, Gary Elfring, Marla Weetall, Joseph M. Colacino, Ellen M. Welch, Stuart W. Peltz

published 25 Oct 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Examining the contribution of smoking and HPV towards the etiology of oral cavity squamous cell carcinoma using high-throughput sequencing: A prospective observational study

Andrew P. Zammit, Rohit Sinha, Caroline L. Cooper, Christopher F. L. Perry, Ian H. Frazer, Zewen K. Tuong

published 11 Oct 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, Elijah J. Lohman, Bedia A. Barkoh, Rashmi Kanagal-Shamanna, Carlos E. Bueso-Ramos, Rajesh R. Singh, L. Jeffrey Medeiros, Raja Luthra, Keyur P. Patel

published 17 Sep 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling

C. James Cooper, Nikkita T. Dutta, Claire E. Martin, Tino D. Piscione, Paul S. Thorner, Nina Jones

published 13 Sep 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, Ming Chen, Lili Tang, Hui Jiang, Julia X. Day, Yueliang Xie, Limin Peng, Xunxun Xu, Jinliang Li, Shouman Wang, Zhi Xiao, Lizhong Dai, Jun Wang

published 13 Sep 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

Ondřej Bonczek, Peter Bielik, Přemysl Krejčí, Tomáš Zeman, Lýdie Izakovičová-Hollá, Jana Šoukalová, Jiří Vaněk, Tereza Gerguri, Vladimir J. Balcar, Omar Šerý

published 07 Sep 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Identification of induced mutations in hexaploid wheat genome using exome capture assay

Momina Hussain, Muhammad Atif Iqbal, Bradley J. Till, Mehboob-ur- Rahman

published 13 Aug 2018

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Nonsense mutation

You can change these options by clicking profile then "Alerts and Notifications"