Results 41 to 50 of about 5,783,756 (283)

Missense single nucleotide variants affecting CYP3A catalytic activity are present in Limousine cattle

Italian Journal of Animal Science, 2020
Cytochrome P450 (CYP) 3A is one of the most important subfamily of drug metabolising enzymes. Genetic factors such as breed and allelic variants might modify CYP3A expression and enzyme activity and lead to inter- and intra-individual variability in ...
Marianna Pauletto, Roberta Tolosi, Mauro Dacasto, Mery Giantin   +3 more
doaj   +1 more source

Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma: Clinical Significance and Detection by High-Resolution Melting

, 2022
Single nucleotide polymorphisms (SNPs) can have a variety of implications for the progression and development of papillary thyroid carcinomas (PTCs). Identification of SNPs, either as germline variants or mutations occurring in tumor tissue, can thus ...
Lam, AK, Smith, RA
core   +1 more source

Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in Cypriot population. [PDF]

, 2010
Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk
Daniel, M, Hadjisavvas, A, Loizidou, MA, Newbold, RF, Neuhausen, SL, Marcou, Y, Michael, T, Bashiardes, E, Cariolou, MA, Kakouri, E   +9 more
core   +6 more sources

Recurrent miscalling of missense variation from short-read genome sequence data

BMC Genomics, 2019
Background Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated.
Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili, Batool Hassan, Nashat Al Sukaiti, Simon J. Foote, Matthew C. Cook, T. Daniel Andrews   +8 more
doaj   +1 more source

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population [PDF]

, 2008
Background Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to determine whether variants of this
Barnett Anthony H, Barnett, Anthony, Britten, Abigail C., Bellary, S, Barnett, Anthony H., Anthony H Barnett, Kumar Sudhesh, Britten, Abigail, Sudhesh Kumar, Rees, Simon D., Rees, Simon, Kelly, M. Ann, Kelly, Marilyn, Britten Abigail C, Kelly M Ann, Bellary, Srikanth, Rees Simon D, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Bellary Srikanth, O'Hare, JP, Kumar, Sudhesh, Simon D Rees, Barnett, A. H., O'Hare J Paul, Kumar, S, O'Hare, J. Paul, M Ann Kelly   +28 more
core   +2 more sources

EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types

Epigenomes, 2017
The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression.
Elisa Paolicchi, Lorenzo Fornaro, Stefano Landi, Sushilaben Rigas, Francesco Crea   +4 more
doaj   +1 more source

Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers [PDF]

, 2006
BackgroundThe MDM2 gene encodes a negative regulator of the p53 tumour suppressor protein. A single nucleotide polymorphism (SNP) in the MDM2 promoter (a T to G exchange at nucleotide 309) has been reported to produce accelerated tumour formation in ...
Johnson, Peter W., White Helen E, Jeremy P Blaydes, Diana M Eccles, White, Helen E., Ellen R Copson, Johnson Peter W, Eccles Diana M, Eccles, Diana M., Helen E White, Robinson, David O., David O Robinson, Peter W Johnson, Blaydes, Jeremy P., Copson, Ellen R., Robinson David O, Copson Ellen R, Blaydes Jeremy P   +17 more
core   +2 more sources

A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset : HapMap tag-single-nucleotide polymorphism analysis [PDF]

, 2012
Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia.
Swagell, Christopher D., Bruce R. Lawford, Ian P. Hughes, Hughes, Ian P., Christopher D. Swagell, Charles Phillip Morris, Voisey, Joanne, Lawford, Bruce R., Young, Ross McD., Morris, Charles Phillip, Joanne Voisey, Ross McD. Young   +11 more
core   +1 more source

High-Resolution Genome-Wide Single Nucleotide Polymorphism Mapping in Acute Myeloid Leukaemia [PDF]

, 2008
PhDInvestigation of the genetics of acute myeloid leukaemia (AML) has revealed the underlying basis of the disease and led to targets for therapy. High-resolution single nucleotide polymorphism (SNP) arrays detected regions of loss of heterozygosity ...
Raghavan, Manoj
core   +4 more sources

Polymorphisms of interferon γ and NKG2D receptor genes in predicting vertical transmission of HIV/HCV coinfection

Медицинский вестник Юга России, 2023
Objective: to investigate single nucleotide polymorphisms in IFNγ gene variant rs2430561 and in NKG2D gene variant rs2617160 as potential risk factors for mother-to-child viral transmission among HIV/HCV-coinfected women.Materials and methods: 65 mother ...
A. A. Khamatova, I. P. Balmasova, T. A. Chebotareva   +2 more
doaj   +1 more source