Search
Now showing items 1271-1280 of 1310
Fishing forward and reverse: Advances in zebrafish phenomics
(ELSEVIER, 2018)
Understanding how the genome instructs the phenotypic characteristics of an organism is one of the major scientific endeavors of our time. Advances in genetics have progressively deciphered the inheritance, identity and ...
Serine 25 phosphorylation inhibits RIPK1 kinase-dependent cell death in models of infection and inflammation
(NATURE PUBLISHING GROUP, 2019)
RIPK1 regulates cell death and inflammation through kinase-dependent and -independent mechanisms. As a scaffold, RIPK1 inhibits caspase-8-dependent apoptosis and RIPK3/MLKL-dependent necroptosis. As a kinase, RIPK1 ...
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
(BMJ PUBLISHING GROUP, 2018)
Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ...
IL-22-expressing CD4(+)AhR(+) T lymphocytes are associated with RANKL-mediated alveolar bone resorption during experimental periodontitis
(Blackwell Munksgaard, 2019-10)
Background and Objective Over the past few years, the importance of interleukin-22 (IL-22) and T-helper (Th)22 lymphocytes in the pathogenesis of periodontitis has become apparent; however, there are still aspects that are ...
The inhibition of CTGF/CCN2 activity improves muscle and locomotor function in a murine ALS model
(OXFORD UNIV PRESS, 2018)
Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. A total of 20% of familial ALS (fALS) cases are explained by ...
Outside in: Unraveling the Role of Neuroinflammation in the Progression of Parkinson's Disease
(FRONTIERS MEDIA SA, 2018)
Neuroinflammation is one of the most important processes involved in the pathogenesis of Parkinson's disease (PD). The current concept of neuroinflammation comprises an inflammation process, which occurs in the central ...
Schwann cell and axon: An interlaced unit—From action potential to phenotype expression
(Facultad de Ciencias, 2016)
Here we propose a model of a peripheral axon with a great deal of autonomy from its cell body-the autonomous axon-but with a substantial dependence on its ensheathing Schwann cell (SC), the axon-SC unit. We review evidence ...
Regulation of developing myelin sheath elongation by oligodendrocyte calcium transients in vivo
(NATURE PUBLISHING GROUP, 2018-01)
How action potentials regulate myelination by oligodendrocytes is uncertain. We show that neuronal activity raises [Ca2+](i) in developing oligodendrocytes in vivo and that myelin sheath elongation is promoted by a high ...
Molecular analysis of axonal-intrinsic and glial-associated co-regulation of axon degeneration
(Chile. Universidad Mayor, 2017-11)
Wallerian degeneration is an active program tightly associated with axonal degeneration, required for axonal regeneration and functional recovery after nerve damage. Here we provide a functional molecular foundation for ...
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
(ELSEVIER SCIENCE INC, 2019)
Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort ...