Results 91 to 100 of about 1,540,335 (330)

A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Italian Journal of Pediatrics
Background Pyruvate dehydrogenase (PDH) deficiency is an uncommon condition responsible for primary refractory lactic acidosis, and PDH E1β (PDHB) subunit gene mutation rarely causes of PDH deficiency.
Ying Li, Lin Cheng, Xin Li, Jiyu Liu, Lu Yi, Tao Bo   +5 more
doaj   +1 more source

MoKCa database - mutations of kinases in cancer [PDF]

, 2009
Members of the protein kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and activated protein kinases have proved to be tractable targets for the development of new anticancer therapies The MoKCa database ...
Alfarano, Altschul, Berman, Braconi Quintaje, Bruford, Burnworth, Chatr-aryamontri, Christopher J. Richardson, Clifford, Costas Mitsopoulous, Daley, Diella, Fernández, Finn, Flicek, Forbes, Frances M. G. Pearl, Gene Ontology Consortium, Greenman, Greenman, Hanahan, Hulo, Kaminker, Kaminker, Kerrien, Koorstra, Lappalainen, Laurence H. Pearl, Letunic, Manning, Marketa Zvelebil, Mishra, Ng, O'Brien, Ortutay, Pagel, Pearl, Qiong Gao, Sawyers, Sjöblom, Stark, Torkamani, UniProt Consortium, Vastrik, Velankar, Wheeler, Wood, Yeats   +47 more
core   +3 more sources

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering [PDF]

, 2015
Background: With the advances in high throughput technologies, increasing amounts of cancer somatic mutation data are being generated and made available.
Fierro Gutierrez, Ana Carolina Elisa, Marchal, Kathleen, Van den Eynden, Jimmy, Verbeke, Lieven   +3 more
core   +2 more sources

[Point mutation].

Nihon rinsho. Japanese journal of clinical medicine, 2019
A point mutation is when a single base pair is altered. Point mutations can have one of three effects. First, the base substitution can be a silent mutation where the altered codon corresponds to the same amino acid.
Y. Yuasa
semanticscholar   +1 more source

Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]

Current Biology, 1999
Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Drotschmann, Karin, Clark, Alan B., Kunkel, Thomas A.   +2 more
openaire   +2 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. [PDF]

, 2019
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci
Asrani, Kripa, Marini, Nicholas J, Rine, Jasper, Shaw, Gary M, Yang, Wei   +4 more
core   +2 more sources

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Nature Genetics, 2018
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations.
Bradley P. Coe, H. Stessman, Arvis Sulovari, Madeleine R. Geisheker, Trygve E Bakken, A. Lake, J. Dougherty, E. Lein, F. Hormozdiari, R. Bernier, E. Eichler   +10 more
semanticscholar   +1 more source