Results 51 to 60 of about 474,702 (256)

A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function. [PDF]

open access: yes, 2019
The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy.
Baker, Dewleen G   +15 more
core   +2 more sources

Automation in genotyping of single nucleotide polymorphisms [PDF]

open access: yesHuman Mutation, 2001
Automation for genotyping of single nucleotide polymorphisms (SNPs) can be split into the automation of the sample preparation and the automation of the analysis technology. SNP genotyping methods are reviewed and solutions for their automation discussed. A panacea for SNP genotyping does not exist.
openaire   +3 more sources

Software complex for simulation modelling of single nucleotide genetic polymorphism sites

open access: yesInformatika
Objectives. High-throughput sequencing methods have recently become widely used in the fundamental and applied research of various human diseases. Sequencing of functionally significant regions of the human genome enables the simultaneous identification ...
M. M. Yatskou   +3 more
doaj   +1 more source

Rapid single nucleotide polymorphism mapping in C. elegans

open access: yesBMC Genomics, 2005
Background In C. elegans, single nucleotide polymorphisms (SNPs) can function as silent genetic markers, with applications ranging from classical two- and three-factor mapping to measuring recombination across whole chromosomes. Results Here, we describe
Hullett Patrick   +5 more
doaj   +1 more source

Single-Nucleotide Polymorphisms in the p53 Pathway [PDF]

open access: yesCold Spring Harbor Symposia on Quantitative Biology, 2005
A cell culture assay has been developed that detects and validates single-nucleotide polymorphisms (SNPs) in genes that populate the p53 pathway. One hundred thirteen EBV-transformed human B-lymphocyte cell lines obtained from a diverse population were employed to measure the apoptotic response to gamma radiation.
Z. Feng   +10 more
openaire   +3 more sources

CYP19A1 single nucleotide polymorphism associations with CYP19A1, NFκB1, and IL6 gene expression in human normal colon and normal liver samples

open access: yesPharmacogenomics and Personalized Medicine, 2014
Rosalind B Penney,1 Abbie Lundgreen,2 Aiwei Yao-Borengasser,3 Vineetha K Edavana,3 Suzanne Williams,3 Ishwori Dhakal,4 Roger K Wolff,2 Susan Kadlubar,3 Martha L Slattery2 1Department of Environmental and Occupational Health, University of Arkansas for ...
Penney RB   +8 more
doaj  

MT1A single Nucleotide Polymorphism and Blood Mercury Levels

open access: yesJournal of Current Oncology and Medical Sciences, 2022
Introduction: The risk factors for the metallothionein (MT) polymorphism in concentrations of heavy metals, especially mercury, in the blood are subject to several confounding factors, including differences in the ethnicity of the population analyzed ...
Maryam Salacheh   +4 more
doaj  

Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage

open access: yesBMC Pregnancy and Childbirth, 2022
Background Postpartum hemorrhage remains a key contributor to overall maternal morbidity in the United States. Current clinical assessment methods used to predict postpartum hemorrhage are unable to prospectively identify about 40% of hemorrhage cases ...
Elise N. Erickson   +4 more
doaj   +1 more source

Genome sequencing of a Hevea brasiliensis for single nucleotide polymorphism discovery [PDF]

open access: yes, 2013
The rubber tree (Hevea spp.), is the primary plant used in natural rubber production. Historically, the breeding of rubber trees has been based on techniques involving statistics and quantitative genetic approaches to determine the best genotypes to be ...
Cardoso-Silva, Claudio Benicio   +8 more
core  

PLA2R1 and HLA-DQA1 SNP in patients with primary membranous nephropathy.

open access: yesPLoS ONE
BackgroundPrimary membranous nephropathy is a widely recognized autoimmune disease associated with podocyte antigens; the most important autoantigen is PLA2R1. PLA2R1 and HLA-DQA1 play important roles in the production of pathogenic antibodies.
Junyi Zhou   +12 more
doaj   +1 more source

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