Animals, 2022 Myostatin (MSTN) is a highly conserved negative regulator of skeletal muscle in mammals. Inactivating mutations results in a hyper-muscularity phenotype known as “double muscling” in several livestock and model species.
Silvia Bruno +12 more
doaj +1 more source
Genetic variation of TLR4 influences immunoendocrine stress response: an observational study in cardiac surgical patients [PDF]
, 2011 Introduction: Systemic inflammation (e.g. following surgery) involves Toll-like receptor (TLR) signaling and leads to an endocrine stress response. This study aims to investigate a possible influence of TLR2 and TLR4 single nucleotide polymorphisms (SNPs)
Koch, Alexander +9 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Sequencing genes in silico using single nucleotide polymorphisms
BMC Genetics, 2012 Background The advent of high throughput sequencing technology has enabled the 1000 Genomes Project Pilot 3 to generate complete sequence data for more than 906 genes and 8,140 exons representing 697 subjects.
Zhang Xinyi +5 more
doaj +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Myosin individualized: single nucleotide polymorphisms in energy transduction
BMC Genomics, 2010 Background Myosin performs ATP free energy transduction into mechanical work in the motor domain of the myosin heavy chain (MHC). Energy transduction is the definitive systemic feature of the myosin motor performed by coordinating in a time ordered ...
Wieben Eric D +3 more
doaj +1 more source
Single nucleotide polymorphisms of Toll-like receptor 4 decrease the risk of development of hepatocellular carcinoma. [PDF]
PLoS ONE, 2011 BACKGROUND: Toll-like receptor 4 (TLR4) is a key innate immunity receptor that initiates an inflammatory response. Growing evidence suggests that mutation of TLR4 gene may play a role in the development of cancers.
Shi Minmin +8 more
doaj +1 more source
Relationship between MUC17 Gene Polymorphisms and Endometriosis in Central Plains Chinese Women
Clinical and Experimental Obstetrics & Gynecology, 2022 Background: Endometriosis is one of the common benign gynecological diseases among reproductive aged women, which almost lead to pelvic pain, infertility and menstrual disorders. There is no blood test available for the diagnosis of endometriosis.
Mingjing Qiao +3 more
doaj +1 more source
Analysis of DREB1D gene sequence in different Coffea genotypes : S03P07 [PDF]
, 2013 In several plant species, the DREB genes play a key role in responses to abiotic stress. Since the development of molecular markers is one of the major goals for accelerating breeding programs, a study was done to evaluate the sequence variability of the
Alves, Gabriel Sergio Costa +7 more
core
Comparative genomic analysis of Geobacter sulfurreducens KN400, a strain with enhanced capacity for extracellular electron transfer and electricity production [PDF]
, 2012 Peer ...
Aklujkar, Muktak +3 more
core +4 more sources