Results 31 to 40 of about 1,730,988 (338)

COSMIC: somatic cancer genetics at high-resolution

Nucleic Acids Res., 2016
COSMIC, the Catalogue of Somatic Mutations in Cancer (http://cancer.sanger.ac.uk) is a high-resolution resource for exploring targets and trends in the genetics of human cancer.
S. Forbes, D. Beare, Harry Boutselakis, S. Bamford, Nidhi Bindal, J. Tate, C. Cole, Sari Ward, E. Dawson, Laura Ponting, Raymund Stefancsik, Bhavana Harsha, C. Kok, Mingming Jia, Harry C Jubb, Zbyslaw Sondka, Sam L. Thompson, Tisham De, P. Campbell   +18 more
semanticscholar   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source

Correction: Functional Translational Readthrough: A Systems Biology Perspective. [PDF]

PLoS Genetics, 2016
[This corrects the article DOI: 10.1371/journal.pgen.1006196.].
PLOS Genetics Staff
doaj   +1 more source

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

Nucleic Acids Res., 2020
Open Targets Genetics (https://genetics.opentargets.org) is an open-access integrative resource that aggregates human GWAS and functional genomics data including gene expression, protein abundance, chromatin interaction and conformation data from a wide ...
M. Ghoussaini, Edward Mountjoy, M. Carmona, Gareth Peat, Ellen M. Schmidt, Andrew Hercules, Luca Fumis, Alfredo Miranda, D. Carvalho-Silva, A. Buniello, Tony Burdett, J. Hayhurst, Jarrod Baker, Javier Ferrer, Asier Gonzalez-Uriarte, S. Jupp, M. Karim, Gautier Koscielny, Sandra Machlitt-Northen, Cinzia Malangone, Z. Pendlington, P. Roncaglia, D. Suveges, Daniel Wright, Olga Vrousgou, Eliseo Papa, H. Parkinson, J. MacArthur, J. Todd, J. Barrett, J. Schwartzentruber, D. G. Hulcoop, D. Ochoa, E. McDonagh, I. Dunham   +34 more
semanticscholar   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic

European Journal of Human Genetics, 2020
The COVID-19 pandemic is a global crisis creating severe disruptions across the economy and health system. Insights into how to better understand and treat COVID-19 are desperately needed. Early studies have focused on the clinical characteristics [1–3],
The COVID-19 Host Genetics Initiative
semanticscholar   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Genetic Testing and Genetic Screening [PDF]

Kennedy Institute of Ethics Journal, 1993
In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more ...
openaire   +2 more sources

Arlequin (version 3.0): An integrated software package for population genetics data analysis

Evolutionary bioinformatics online, 2005
Arlequin ver 3.0 is a software package integrating several basic and advanced methods for population genetics data analysis, like the computation of standard genetic diversity indices, the estimation of allele and haplotype frequencies, tests of ...
L. Excoffier, Guillaume Laval, S. Schneider   +2 more
semanticscholar   +1 more source

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

FEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz, Milagros Siebeck Caturelli, Lina S. Lehmann, Florian Kurth, Alexander G. Maier, Kai Matuschewski   +5 more
wiley   +1 more source