Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50847
Abstract: We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the encoded KNa1.1… read more here.
Keywords: kcnt1 variant; functional consequences; status dystonicus;
Exploring functional consequences of GPCR oligomerization requires a different lens.
Sign Up to like & getrecommendations! Published in 2020 at "Progress in molecular biology and translational science"
DOI: 10.1016/bs.pmbts.2019.11.001
Abstract: As the largest family of cell surface receptors, G protein-coupled receptors (GPCRs) represent an important strategic class of therapeutic targets. Attaining a clearer perspective of how such signaling complexes set molecular events in motion could… read more here.
Keywords: consequences gpcr; requires different; gpcr oligomerization; functional consequences ... See more keywords
NTRK point mutations and their functional consequences.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2021.12.002
Abstract: The neurotrophic receptor tyrosine kinase (NTRK) family of genes, including NTRK1, NTRK2, and NTRK3, encodes membrane-bound receptors that normally regulate cell survival and differentiation upon binding of growth factors. Not surprisingly, mutations in these genes… read more here.
Keywords: mutations functional; point; point mutations; ntrk point ... See more keywords
Functional consequences of chromosomal rearrangements on gene expression: not so deleterious after all?
Sign Up to like & getrecommendations! Published in 2019 at "Journal of molecular biology"
DOI: 10.1016/j.jmb.2019.09.010
Abstract: Chromosomes are folded and organized into topologically associated domains (TADs) which provide a framework for the interaction of enhancers with the promoter of their target gene(s). Structural rearrangements observed during evolution or in disease contexts… read more here.
Keywords: functional consequences; gene expression; chromosomal rearrangements; consequences chromosomal ... See more keywords
Investigation of left and right lateral fluid percussion injury in C57BL6/J mice: In vivo functional consequences
Sign Up to like & getrecommendations! Published in 2017 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2017.05.032
Abstract: Although rodent models of traumatic brain injury (TBI) reliably produce cognitive and motor disturbances, behavioral characterization resulting from left and right hemisphere injuries remains unexplored. Here we examined the functional consequences of targeting the left… read more here.
Keywords: left right; fluid percussion; functional consequences; right lateral ... See more keywords
Type IV pili: dynamics, biophysics and functional consequences
Sign Up to like & getrecommendations! Published in 2019 at "Nature Reviews Microbiology"
DOI: 10.1038/s41579-019-0195-4
Abstract: The surfaces of many bacteria are decorated with long, exquisitely thin appendages called type IV pili (T4P), dynamic filaments that are rapidly polymerized and depolymerized from a pool of pilin subunits. Cycles of pilus extension,… read more here.
Keywords: functional consequences; type pili; t4p dynamics; t4p ... See more keywords
Towards understanding mechanisms and functional consequences of bacterial interactions with members of various kingdoms in complex biofilms that abound in nature.
Sign Up to like & getrecommendations! Published in 2022 at "FEMS microbiology reviews"
DOI: 10.1093/femsre/fuac024
Abstract: The microbial world represents a phenomenal diversity of microorganisms from different kingdoms of life which occupy an impressive set of ecological niches. Most, if not all, microorganisms once colonise a surface develop architecturally complex surface-adhered… read more here.
Keywords: understanding mechanisms; different kingdoms; functional consequences; nature ... See more keywords
The Functional Consequences of Social Attention for Memory-guided Attention Orienting and Anticipatory Neural Dynamics
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cognitive Neuroscience"
DOI: 10.1162/jocn_a_01379
Abstract: Social attention when viewing natural social (compared with nonsocial) images has functional consequences on contextual memory in healthy human adults. In addition to attention affecting memory performance, strong evidence suggests that memory, in turn, affects… read more here.
Keywords: memory guided; guided attention; functional consequences; attention ... See more keywords
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-017-0486-9
Abstract: Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents), a membrane-bound metalloprotease, has been identified as a gene responsible for distal arthrogryposis (DA). ECEL1-mutated DA is generally characterized by ocular phenotypes in addition to the… read more here.
Keywords: knock; functional consequences; congenital contracture; ecel1 dine ... See more keywords
A case study in the functional consequences of scaling the sizes of realistic cortical models
Sign Up to like & getrecommendations! Published in 2019 at "PLoS Computational Biology"
DOI: 10.1371/journal.pcbi.1007198
Abstract: Neuroscience models come in a wide range of scales and specificity, from mean-field rate models to large-scale networks of spiking neurons. There are potential trade-offs between simplicity and realism, versatility and computational speed. This paper… read more here.
Keywords: consequences scaling; functional consequences; scaling sizes; sizes realistic ... See more keywords