Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism - Test2 - elhamkhani - TriplyDB

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

http://www.wikidata.org/entity/Q24655099

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Bridging the synaptic gap: neuroligins and neurexin I in Apis mellifera Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist Neuroligins and neurexins link synaptic function to cognitive disease Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export Structural insights into the exquisite selectivity of neurexin/neuroligin synaptic interactions.Investigating synapse formation and function using human pluripotent stem cell-derived neurons Pathogenic mechanism of an autism-associated neuroligin mutation involves altered AMPA-receptor trafficking An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications On the Role of Glutamate in Presynaptic Development: Possible Contributions of Presynaptic NMDA Receptors The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions The Crystal Structure of the α-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function The interplay between synaptic activity and neuroligin function in the CNS Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics.Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2.Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder Use of zebrafish as a model to understand mechanisms of addiction and complex neurobehavioral phenotypes.Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice The Role of the Y Chromosome in Brain Function.Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines.Bio-collections in autism research.A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms.Synaptic signaling and aberrant RNA splicing in autism spectrum disorders The neurobiology of autism.Neurexins, neuroligins and LRRTMs: synaptic adhesion getting fishy Autism-lessons from the X chromosome.Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Autism-associated gene expression in peripheral leucocytes commonly observed between subjects with autism and healthy women having autistic children ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders.Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

http://www.wikidata.org/entity/Q24655099

description

2006 nî lūn-bûn

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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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name

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

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type

label

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

@ast

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

@en

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

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prefLabel

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

@ast

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

@en

Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

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Journal of Medical Genetics

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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

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P2860

X-inactivation profile reveals extensive variability in X-linked gene expression in females

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression

Disorder-associated mutations lead to functional inactivation of neuroligins

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins

Neurexins: synaptic cell surface proteins related to the alpha-latrotoxin receptor and laminin

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

Common EF-hand motifs in cholinesterases and neuroligins suggest a role for Ca2+ binding in cell surface associations

Structures of recombinant native and E202Q mutant human acetylcholinesterase complexed with the snake-venom toxin fasciculin-II

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