Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
THE ACADEMICIAN N.I. VAVILOV AND INTRODUCTION OF RICE IN RUSSIA
The article considers the role of N.I. Vavilov in creating the theory of introduction of plants. N.I. Vavilov was the first who showed the possibility and practicability of expanding rice from the southern parts of the country to the northern ones ...
A. V. Chamyshev
doaj
Molecular epidemiological investigations of human parvovirus B19 among blood donors in Lanzhou
[Objective] To investigate the molecular prevalence and genotype of human parvovirus B19(B19) among blood donors in Lanzhou, and provide data support for monitoring the positive rate of B19 DNA in local blood donors.
WU Kangle +4 more
doaj +1 more source
Examination of the Monoamine Oxidase A Gene Promoter on Motivation to Exercise and Levels of Voluntary Physical Activity [PDF]
Purpose: The purpose of this study was to examine the genetic basis underlying voluntary exercise. Monoamine oxidase A (MAO-A) is an enzyme that acts on monoamine neurotransmitters, such as dopamine, to cause inactivation. There are several polymorphisms
Kinney, Erin M.
core +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang +6 more
wiley +1 more source
Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI
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
Background As the social economy has developed and population mobility has increased, differences in the Human immunodeficiency virus type 1 (HIV‐1) genotype distribution among men who have sex with men (MSM) have become apparent in the provinces and ...
Dawen Qin +7 more
doaj +1 more source
Effects of neutral selection on the evolution of molecular species
We introduce a new model of evolution on a fitness landscape possessing a tunable degree of neutrality. The model allows us to study the general properties of molecular species undergoing neutral evolution.
Engelhardt, Robin, Newman, M. E. J.
core +1 more source
Genotype investigator for Genome Wide Analysis (GIGwA) [P1111] [PDF]
Comparing genetic variations in relation to the functional data is essential to understand the adaptation of organisms to their ecosystems. However, now with the data deluge produced by the Next Generation Sequencing (NGS) arise some computational ...
Dereeper, Alexis +5 more
core

