Results 41 to 50 of about 291,376 (305)

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

A Chemical Screen Identifies Compounds Capable of Selecting for Haploidy in Mammalian Cells

Cell Reports, 2019
Summary: The recent availability of somatic haploid cell lines has provided a unique tool for genetic studies in mammals. However, the percentage of haploid cells rapidly decreases in these cell lines, which we recently showed is due to their overgrowth ...
Teresa Olbrich, Maria Vega-Sendino, Matilde Murga, Guillermo de Carcer, Marcos Malumbres, Sagrario Ortega, Sergio Ruiz, Oscar Fernandez-Capetillo   +7 more
doaj   +1 more source

Clinical consequences of BRCA2 hypomorphism

npj Breast Cancer, 2021
The tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary ...
Laia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, Massimo Bogliolo, Estela Carrasco, Miriam Aza-Carmona, Gemma Montalban, Núria Muñoz-Subirana, Roser Pujol, Cristina Cruz, Alba Llop-Guevara, María J. Ramírez, Cristina Saura, Adriana Lasa, Violeta Serra, Orland Diez, Judith Balmaña, Jordi Surrallés   +17 more
doaj   +1 more source

Mutation-Derived Long Noncoding RNA Signature Predicts Survival in Lung Adenocarcinoma

Frontiers in Oncology, 2022
BackgroundGenomic instability is one of the representative features of cancer evolution. Recent research has revealed that long noncoding RNAs (lncRNAs) play a critical role in maintaining genomic instability. Our work proposed a gene signature (GILncSig)
Longjun Yang, Longjun Yang, Guangran Guo, Guangran Guo, Xiangyang Yu, Yingsheng Wen, Yingsheng Wen, Yongbin Lin, Yongbin Lin, Rusi Zhang, Rusi Zhang, Dechang Zhao, Dechang Zhao, Zirui Huang, Zirui Huang, Gongming Wang, Gongming Wang, Yan Yan, Yan Yan, Xuewen Zhang, Xuewen Zhang, Dongtai Chen, Dongtai Chen, Wei Xing, Wei Xing, Weidong Wang, Weian Zeng, Weian Zeng, Lanjun Zhang, Lanjun Zhang   +29 more
doaj   +1 more source

Transcription as a Threat to Genome Integrity [PDF]

, 2016
Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés, Gaillard, Hélène   +1 more
core   +1 more source

A binary vector for transferring genomic libraries to plants [PDF]

, 1986
The transformation of mutant plants with a complete recombinant library derived from wild-type DNA followed by assay of transformed plants for complementation of the mutant phenotype is a promising method for the isolation of plant genes.
Simoens, Chris, Alliotte, Thierry, Mendel, R, Müller, A, Schiemann, J, Van Lijsebettens, Maria, Schell, Jeff, Van Montagu, Marc, Inzé, Dirk   +8 more
core   +1 more source

Genome Instability [PDF]

Cell, 2013
To whet your appetite for the special focus in next issue’s Leading Edge on Genomic Instability, we take a look at what’s new in the field of DNA repair. Ranging from network analyses of the proteins involved in mutagenic DNA repair to examination of single molecules taking part in homologous recombination, this Select probes the inner workings of a ...
openaire   +1 more source

Genomic instability is associated with natural life span variation in Saccharomyces cerevisiae. [PDF]

PLoS ONE, 2008
Increasing genomic instability is associated with aging in eukaryotes, but the connection between genomic instability and natural variation in life span is unknown. We have quantified chronological life span and loss-of-heterozygosity (LOH) in 11 natural
Hong Qin, Meng Lu, David S Goldfarb
doaj   +1 more source

Lamin A Δexon9 mutation leads to telomere and chromatin defects but not genomic instability [PDF]

, 2013
Over 300 mutations in the LMNA gene, encoding A-type lamins, are associated with 15 human degenerative disorders and premature aging syndromes. Although genomic instability seems to contribute to the pathophysiology of some laminopathies, there is ...
Das, Arindam, Gonzalez-Suarez, Ignacio, Gonzalo, Susana, Grotsky, David A, Kennedy, Brian K, Kreienkamp, Ray, Neumann, Martin A, Redwood, Abena B, Stewart, Colin L   +8 more
core   +2 more sources

Genome Instability [PDF]

Cell, 2011
Maintaining genomic stability in the face of replication and recombination requires a huge variety of different damage response proteins. A cell's ability to decide when and where to deploy this DNA repair kit is critical to prevent tumor development. This issue's Select highlights recent studies that help to explain how these difficult decisions are ...
openaire   +2 more sources