Results 111 to 120 of about 420,815 (305)
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 Objective To investigate the polymorphism of T cell receptor β chain variable region (TCRVβ) in peripheral blood of clinically isoiated syndrome (CIS) patients. To preliminarily predict the specific TCRVβ fragment of CIS and its diagnostic value for CIS.
Yan WU +5 more
doaj
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
Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development [PDF]
, 2013 Background: Vitamin D insufficiency has been associated with the occurrence of various types of cancer, but causal relationships remain elusive. We therefore aimed to determine the relationship between genetic determinants of vitamin D serum levels and ...
Jörg Bojunga +127 more
core +1 more source
Arquivos Brasileiros de Cardiologia, 2012 FUNDAMENTO: O sistema nervoso simpático apresenta grande importância na patogênese da fibrilação atrial na insuficiência cardíaca sistólica. A identificação de polimorfismos no gene ADBR1 do receptor beta1-adrenérgico representa um importante passo no ...
Bruno Costa do Nascimento +3 more
doaj
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
Inferring the demographic history and rate of adaptive substitution in Drosophila [PDF]
, 2006 An important goal of population genetics is to determine the forces that have shaped the pattern of genetic variation in natural populations. We developed a maximum likelihood method that allows us to infer demographic changes and detect recent positive ...
Stephan Wolfgang +5 more
core +1 more source
Polymorphism, Genetic Effect, and Association with Egg-Laying Performance of Chahua Chickens Matrix Metalloproteinases 13 Promoter. [PDF]
Genes (Basel), 2023 Du Y +8 more
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Polymorphisms of CYP1A1 I462V and GSTM1 genotypes and lung cancer susceptibility in Mongolian [PDF]
, 2009 Aim: To study the genotype of cytochrome P450 1A1(CYP1A1) I462V and glutathions S-transferase M1( GSTM1) and the relationship of the genetic polymorphism of them with the susceptibility of lung cancer in Mongolia of China.
Guang Wang +6 more
core +1 more source
Polymorphisms in the circadian expressed genes PER3 and ARNTL2 are associated with diurnal preference and GNβ3 with sleep measures [PDF]
, 2014 Sleep and circadian rhythms are intrinsically linked, with several sleep traits, including sleep timing and duration, influenced by both sleep homeostasis and the circadian phase.
Lester, Kathryn +34 more
core +1 more source