Mutation by Julie Sorel

Get full text

Mutational spectrum drives the rise of mutator bacteria. by Alejandro Couce, Javier R Guelfo, Jesús Blázquez

“…A prominent but underappreciated fact is that each mutator allele increases only a specific spectrum of mutational changes. …”
Get full text

Mutation bias alters the distribution of fitness effects of mutations. by Mrudula Sane, Shazia Parveen, Deepa Agashe

“…The depletion of beneficial mutations is especially stark within the mutational class favored by the existing mutation bias. …”
Get full text

Mutation screening of α-crystallin mutations in congenital cataract patients by Manoj Kumar, Rima Dada, Tushar Agarwal, Sudarshan Khokhar

“…Conclusion: This study shows that the pathogenesis of the majority of congenital cataract cas-es in North India seems not to be accounted for mutations by the coding exons of α-crystallins. It is also possible that currently unidentified genes may be a more significant cause of cataract than previously thought. …”
Get full text

Tumor Mutation Signature Reveals the Risk Factors of Lung Adenocarcinoma with or Mutation by Jialiang Wang MM, Chang Guo BMed, Jiexiao Wang MM, Xiaopeng Zhang BS, Jian Qi PhD, Xiang Huang MM, Zongtao Hu MM, Hongzhi Wang MM, Bo Hong PhD

“…Introduction EGFR and KRAS mutations are frequently detected in lung adenocarcinoma (LUAD). …”
Get full text

Impact of secondary‐type mutations in acute myeloid leukemia with CEBPA mutation by Davidson Zhao, Musani Rumina, Mojgan Zarif, Cuihong Wei, Hong Chang

Get full text

Introduction. Mutations sahariennes by Abed Bendjelid, Jean-Claude Brûlé, Jacques Fontaine, Yaël Kouzmine, Serge Ormaux

Get full text

BERT Mutation: Deep Transformer Model for Masked Uniform Mutation in Genetic Programming by Eliad Shem-Tov, Moshe Sipper, Achiya Elyasaf

Subjects: Get full text

Estimating mutation rate and characterising single nucleotide de novo mutations in pigs by Christina M. Rochus, Marije J. Steensma, Marco C. A. M. Bink, Abe E. Huisman, Barbara Harlizius, Martijn F. L. Derks, Richard P. M. A. Crooijmans, Bart J. Ducro, Piter Bijma, Martien A. M. Groenen, Han A. Mulder

“…Abstract Background Direct estimates of mutation rates in humans have changed our understanding of evolutionary timing and de novo mutations (DNM) have been associated with several developmental disorders in humans. …”
Get full text

The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis by Nesibe Kahraman-Cetin, Dilara Akin, Seda Orenay-Boyacioglu, Olcay Boyacioglu, Ibrahim Halil Erdogdu, Esin Oktay, Ibrahim Meteoglu

Subjects: Get full text

What can we infer about mutation calling by using time‐series mutation accumulation data and a Bayesian Mutation Finder? by Takahiro Maruki, April Ozere, Jack Freeman, Melania E. Cristescu

Subjects: “…Bayesian Mutation Finder…”
Get full text

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles by Kamakari Smaragda, Kokkinou Vassiliki, Koutsodontis George, Stamatiou Polixeni, Giatzakis Christoforos, Anastasakis Anastasios, Aslanides Ioannis Minas, Koukoula Stavrenia, Panagiotoglou Theoni, Datseris Ioannis, Tsilimbaris K. Miltiadis

“…To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). …”
Get full text

A 15-year study of neuraminidase mutations and the increasing of S247N mutation in Spain by Iván Sanz-Muñoz, Alejandro Martín-Toribio, Adrián García-Concejo, Irene Arroyo-Hernantes, Marina Toquero-Asensio, Javier Sánchez-Martínez, Carla Rodríguez-Crespo, Silvia Rojo-Rello, Marta Domínguez-Gil, Eduardo Tamayo-Gómez, Marta Hernández-Pérez, José M Eiros

Subjects: Get full text

The impact of point mutations in the human androgen receptor: classification of mutations on the basis of transcriptional activity. by Colin W Hay, Iain J McEwan

“…Importantly, mutations introducing constitutive gain of function are uncommon, with the majority of mutations leading to either loss of function or no significant change from wild-type activity. …”
Get full text

The three faces of riboviral spontaneous mutation: spectrum, mode of genome replication, and mutation rate. by Libertad García-Villada, John W Drake

“…Only a few riboviral infections can be controlled with antiviral drugs, mainly because of the rapid appearance of resistance mutations. Little reliable information is available concerning i) kinds and relative frequencies of mutations (the mutational spectrum), ii) mode of genome replication and mutation accumulation, and iii) rates of spontaneous mutation. …”
Get full text

CEBPA mutation in acute myeloid leukemia: prognostic impact of bZIP domain mutation by Roy Raj, Das Prithibi

Subjects: Get full text

Corrigendum to “Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles” by Smaragda Kamakari, Vassiliki Kokkinou, George Koutsodontis, Polixeni Stamatiou, Christoforos Giatzakis, Anastasios Anastasakis, Ioannis Minas Aslanides, Stavrenia Koukoula, Theoni Panagiotoglou, Ioannis Datseris, Miltiadis K. Tsilimbaris

Get full text

Discontinuités et mutations spatiales by Patrick Picouet, Jean-Pierre Renard

Get full text

The Mutations Associated with Dilated Cardiomyopathy by Ruti Parvari, Aviva Levitas

“…This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.…”
Get full text

Consonant mutation in Seereer-Siin by Fiona McLaughlin

Subjects: “…consonant mutation…”
Get full text