Results 141 to 150 of about 1,768,096 (341)

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan   +46 more
wiley   +1 more source

New insight into the function of wheat glutenin proteins as investigated with two series of genetic mutants

open access: yesScientific Reports, 2017
Among the three major food crops (rice, wheat and maize), wheat is unique in accumulating gluten proteins in its grains. Of these proteins, the high and low molecular weight glutenin subunits (HMW-GSs and LMW-GSs) form glutenin macropolymers that are ...
Zhaojun Wang   +8 more
doaj   +1 more source

Detection and Mapping of Quantitative Trait Loci that Determine Responsiveness [PDF]

open access: yes, 2004
Exposure to 70% N2O evokes a robust antinociceptive effect in C57BL/6 (B6) but not in DBA/2 (D2) inbred mice. This study was conducted to identify quantitative trait loci (QTL) in the mouse genome that might determine responsiveness to N2O.
Belknap, John K.   +4 more
core   +1 more source

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski   +13 more
wiley   +1 more source

Gene silencing and large-scale domain structure of the E. coli genome

open access: yes, 2012
The H-NS chromosome-organizing protein in E. coli can stabilize genomic DNA loops, and form oligomeric structures connected to repression of gene expression.
Lagomarsino, Marco Cosentino   +2 more
core   +2 more sources

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

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