The DNA-binding domain of the Chd1 chromatin-remodelling enzyme contains SANT and SLIDE domains [PDF]
The ATP-dependent chromatin-remodelling enzyme Chd1 is a 168-kDa protein consisting of a double chromodomain, Snf2-related ATPase domain, and a C-terminal DNA-binding domain.
Aasland +65 more
core +4 more sources
Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core +1 more source
RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre +68 more
core +3 more sources
Constructing dementia and dementia care: daily practices in a day care setting [PDF]
• Summary:This article explores the ways in which dementia can be constructed and maintained by the actions, and received ideas concerning dementia, of social care staff practising in a local authority day care setting in the UK.The article is set ...
Parker, Jonathan
core +1 more source
Absence of BLM leads to accumulation of chromosomal DNA breaks during both unperturbed and disrupted S phases [PDF]
Bloom's syndrome (BS), a disorder associated with genomic instability and cancer predisposition, results from defects in the Bloom's helicase (BLM) protein.
Dunphy, William G. +3 more
core +3 more sources
Heart transplantation in a patient with primary malignant tumor
The article looks at a clinical case of a 31-year-old female with signs of paroxysmal ventricular tachycardia and Morgagni–Adams–Stokes syndrome. In April 2014, electrophysiological examination revealed a source of ventricular tachycardia localized in ...
E. E. Kliver +4 more
doaj +1 more source
Intersection between metabolic dysfunction, high fat diet consumption, and brain aging [PDF]
Deleterious neurochemical, structural, and behavioral alterations are a seemingly unavoidable aspect of brain aging. However, the basis for these alterations, as well as the basis for the tremendous variability in regards to the degree to which these ...
Adami +302 more
core +1 more source
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia [PDF]
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth.
Allegue, Catarina +12 more
core +2 more sources
Where was it? : working memory as a predictor of passive vocabulary development in the third year of life [PDF]
The objective of the presented research was to test whether working memory, measured using the Spin the Pots task, is an important factor in passive vocabulary development in 2- and 3-year-old children. Two longitudinal studies were conducted.
Białecka-Pikul, Marta +2 more
core +1 more source

