Results 71 to 80 of about 9,839 (200)

Mutator phenotype of induced cryptic coliphage lambda prophage [PDF]

, 2005
These studies are based on the isolation of ë replication defective mutants that had acquired multiple point mutations within ë replication initiation genes O and P in a cryptic prophage (Hayes et al., 1998).
Chu, Audrey
core  

Rare Natural SNP Activates SHOOT APICAL MERISTEM ENLARGER1 to Increase Branch Number and Silique Number on the Main Inflorescence in Brassica napus

Plant Biotechnology Journal, Volume 24, Issue 5, Page 2768-2786, May 2026.
ABSTRACT Brassica napus is the second most important oil crop worldwide. Number of primary branches (Branch number, BN) and silique number on the main inflorescence (SMI) are key yield‐related quantitative traits. Here, we cloned a major QTL, qDB.A09, which simultaneously influences BN and SMI.
Sihao Zhang, Bao Li, Xiaoting Li, Song Yu, Yebitao Yang, Peipei Liu, Tanglingdian He, Wei Wang, Mei Li, Liang Guo, Jinxing Tu   +10 more
wiley   +1 more source

Phenotypic Spectrum of Mutations in Cardiolaminopathies

Cardiogenetics, 2011
Phenotypic plasticity of mutations in LMNA, which encodes Lamin A/C, is unsurpassed by any other gene. Mutations in LMNA are responsible for least a dozen distinct phenotype sthat affect various mesenchymal organs and are collectively referred to as lamino - pathies or less frequently envelopathies.
openaire   +2 more sources

FOXE3 mutations: genotype‐phenotype correlations [PDF]

Clinical Genetics, 2018
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited ...
Plaisancié, Julie, Ragge, N.K., Dollfus, H., Kaplan, J., Lehalle, D., Francannet, C., Morin, G., Colineaux, H., Calvas, Patrick, Chassaing, Nicolas   +9 more
openaire   +3 more sources

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas

, 2012
Oncogene-induced DNA replication stress is thought to drive genomic instability in cancer. In particular, replication stress can explain the high prevalence of focal genomic deletions mapping within very large genes in human tumors.
Santoni, Federico, Pateras, Ioannis S, Sougioultzis, Stavros, Nikolaev, Sergey Igorievich, Edgren, Henrik, Antonarakis, Stylianos, Halazonetis, Thanos, Sotiriou, Sotirios K, Almusa, Henrikki, Guipponi, Michel, Saarela, Janna, Gorgoulis, Vassilis G, Robyr, Daniel   +12 more
core   +1 more source

Spontaneous Polyploids and Antimutators Compete During the Evolution of Saccharomyces cerevisiae Mutator Cells. [PDF]

, 2020
Mutations affecting DNA polymerase exonuclease domains or mismatch repair (MMR) generate mutator phenotypes capable of driving tumorigenesis. Cancers with both defects exhibit an explosive increase in mutation burden that appears to reach a threshold ...
Herr, Alan, Preston, Kent, Chia, Andy, Lee, Mitchell, Loo, Jason, Tracy, Maxwell, Hearn, Brady, Dowsett, Ian, Tang, Thao, Ghodsian, Niloufar, Tuncel, Miles, Thurber, Luke, Loeb, Anisha, Bode, Anna   +13 more
core   +1 more source

Evidence for interplay among yeast replicative DNA polymerases alpha, delta and epsilon from studies of exonuclease and polymerase active site mutations

BMC Biology, 2004
Background DNA polymerase ε (Pol ε) is essential for S-phase replication, DNA damage repair and checkpoint control in yeast. A pol2-Y831A mutation leading to a tyrosine to alanine change in the Pol ε active site does not cause growth defects and confers ...
Pavlov Youri I, Maki Satoko, Maki Hisaji, Kunkel Thomas A   +3 more
doaj   +1 more source

Computational detection of a genome instability‐derived lncRNA signature for predicting the clinical outcome of lung adenocarcinoma

Cancer Medicine, 2022
Evidence has been emerging of the importance of long non‐coding RNAs (lncRNAs) in genome instability. However, no study has established how to classify such lncRNAs linked to genomic instability, and whether that connection poses a therapeutic ...
Chen‐Rui Guo, Yan Mao, Feng Jiang, Chen‐Xia Juan, Guo‐Ping Zhou, Ning Li   +5 more
doaj   +1 more source

A Super‐Pangenome for Cultivated Citrus Reveals Evolutive Features During the Allopatric Phase of Their Reticulate Evolution

Plant Biotechnology Journal, Volume 24, Issue 5, Page 3345-3367, May 2026.
Structure of the cultivated citrus super‐pangenome. ABSTRACT The main genetic diversity observed in cultivated citrus results from a reticulate evolution involving four ancestral taxa whose radiation occurred in allopatry. In such context, GWAS analysis, genome diversity and transcriptomic studies will be significantly enhanced through pangenome ...
Gaetan Droc, Delphine Giraud, Caroline Belser, Karine Labadie, Simone Duprat, Corinne Cruaud, Benjamin Istace, Fredson Dos Santos Menezes, Edson Mario de Andrade Silva, Franck Curk, Gilles Costantino, Alexandre Soriano, Pierre Mournet, Alexis Dereeper, Maëva Miranda, Elodie Marchi, Sylvain Santoni, Raner José Santana Silva, Stéphanie Sidibe‐Bocs, François Luro, Nathalie Choisne, Florian Maumus, Barbara Hufnagel, Fabienne Micheli, Patrick Wincker, Jean‐Marc Aury, Arnaud Lemainque, Patrick Ollitrault   +27 more
wiley   +1 more source

Phenotypic effects of heterozygosity for a BRCA2 mutation [PDF]

Human Molecular Genetics, 2003
Heterozygous carriers of mutations in the BRCA2 gene have a high risk of developing breast and other cancers. In these individuals, BRCA2 appears to act as a tumour suppressor gene, in that loss of the wild type allele is frequently observed within tumours, leading to loss of BRCA2 function.
Madhuri, Warren, Christopher J, Lord, Julio, Masabanda, Darren, Griffin, Alan, Ashworth   +4 more
openaire   +2 more sources