Results 101 to 110 of about 305,611 (291)
Biofilm Formation in Acinetobacter Baumannii: Genotype-Phenotype Correlation
Molecules, 2019 Strains of Acinetobacter baumannii are commensal and opportunistic pathogens that have emerged as problematic hospital pathogens due to its biofilm formation ability and multiple antibiotic resistances.
Cheng-Hong Yang +3 more
doaj +1 more source
CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages
Annals of Clinical and Translational Neurology, EarlyView.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
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Percolation on fitness landscapes: effects of correlation, phenotype, and incompatibilities
, 2006 We study how correlations in the random fitness assignment may affect the structure of fitness landscapes. We consider three classes of fitness models. The first is a continuous phenotype space in which individuals are characterized by a large number of ...
Gavrilets, Sergey +2 more
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions
Frontiers in Neurology, 2021 Luca Marsili +2 more
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Diseases, 2018 Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care.
Miguel-Ángel Torralba-Cabeza +2 more
doaj +1 more source
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. [PDF]
, 2019 Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11.
23andMe Research Team +99 more
core
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source