Results 61 to 70 of about 666,141 (292)

TERT genetic polymorphism rs2736100 is associated with an aggressive manifestation of papillary thyroid carcinoma

open access: yesFrontiers in Surgery, 2023
ObjectivesTERT rs2736100 genetic polymorphism is commonly found in human malignancies, indicating its key role in cancer cell transformation. The aim of this study is to investigate the effects of the functional TERT rs2736100 genetic polymorphism on the
Xilin Nie, Jinbiao Shang, Wendong Wang
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

open access: yesFEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane   +11 more
wiley   +1 more source

The CXCL12 G801A polymorphism is associated with cancer risk: a meta-analysis.

open access: yesPLoS ONE, 2014
BackgroundCXCL12 is a small chemotactic cytokine belonging to the CXC chemokine family expressed in various organs. It contributes to the migration, invasion and angiogenesis of cancer cells.
Ke Zhu   +6 more
doaj   +1 more source

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

open access: yesFEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young   +7 more
wiley   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen   +10 more
wiley   +1 more source

A Study of Cryptosporidium parvum Genotypes and Population Structure

open access: yesMemorias do Instituto Oswaldo Cruz, 1998
Genetic evidence for the occurrence of two Cryptosporidium parvum subgroups is presented. This evidence is based on restriction fragment length polymorphism analysis of several independent loci.
G Widmer, L Tchack, F Spano, S Tzipori
doaj   +1 more source

Genetic Polymorphism

open access: yes, 2017
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or few nucleotides called mutations, which can be caused by errors in the mechanisms of DNA replication and repair as well as by environmental factors; and these mutations can have deleterious effects and cause disease.
openaire   +2 more sources

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

open access: yesAnnals 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

GSTP1 A>G polymorphism and chemosensitivity of osteosarcoma: A meta-analysis

open access: yesOpen Medicine, 2016
The association between GSTP1 A>G polymorphism and chemosensitivity of osteosarcoma is controversial according to previously published studies. We conducted this meta-analysis to further investigate the role of GSTP1 A>G genetic variation in response to ...
Fengfeng Wu, Ruqing Ye, Juntao Xu
doaj   +1 more source

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