(Q40637296)

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Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1.

scientific article published on 12 August 2015

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scholarly article

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Europe PubMed Central

PMC publication ID

22 September 2017

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. (English)

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Europe PubMed Central

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22 September 2017

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Thomas C. Südhof

9

object named as

Thomas C Südhof

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Europe PubMed Central

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22 September 2017

Stephan Maxeiner

object named as

Stephan Maxeiner

6

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8

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Marius Wernig

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Europe PubMed Central

22 September 2017

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author name string

ChangHui Pak

1

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Europe PubMed Central

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22 September 2017

Tamas Danko

2

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Europe PubMed Central

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22 September 2017

Yingsha Zhang

3

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Europe PubMed Central

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22 September 2017

Jason Aoto

4

1 reference

Europe PubMed Central

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22 September 2017

Garret Anderson

5

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Europe PubMed Central

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22 September 2017

Fei Yi

7

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Europe PubMed Central

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22 September 2017

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publication date

12 August 2015

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22 September 2017

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13

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22 September 2017

17

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22 September 2017

3

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22 September 2017

316-328

1 reference

Europe PubMed Central

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22 September 2017

Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

A polygenic burden of rare disruptive mutations in schizophrenia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

De novo mutations in schizophrenia implicate synaptic networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

Analysis of copy number variations at 15 schizophrenia-associated loci.

1 reference

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22 September 2017

Modeling human neurological disorders with induced pluripotent stem cells

1 reference

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22 September 2017

The genomics of schizophrenia: update and implications.

1 reference

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22 September 2017

Rapid single-step induction of functional neurons from human pluripotent stem cells

1 reference

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22 September 2017

Recent developments in the genetics of autism spectrum disorders

1 reference

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22 September 2017

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development

1 reference

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22 September 2017

Induced pluripotent stem cells: the new patient?

1 reference

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22 September 2017

Short-term presynaptic plasticity

1 reference

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22 September 2017

Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

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22 September 2017

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

1 reference

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22 September 2017

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

1 reference

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22 September 2017

Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission

1 reference

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22 September 2017

Recent genomic advances in schizophrenia

1 reference

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22 September 2017

Induction of human neuronal cells by defined transcription factors

1 reference

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22 September 2017

Constructing and deconstructing stem cell models of neurological disease

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22 September 2017

Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.

1 reference

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22 September 2017

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

1 reference

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22 September 2017

Pluripotency and cellular reprogramming: facts, hypotheses, unresolved issues

1 reference

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22 September 2017

Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons

1 reference

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22 September 2017

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

22 September 2017

Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells

1 reference

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22 September 2017

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.

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Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

1 reference

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A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration

1 reference

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22 September 2017

Neuroligins and neurexins link synaptic function to cognitive disease

1 reference

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22 September 2017

Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines

1 reference

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22 September 2017

Deletion of CASK in mice is lethal and impairs synaptic function

1 reference

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22 September 2017

Autonomous function of synaptotagmin 1 in triggering synchronous release independent of asynchronous release

1 reference

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Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated viruses

1 reference

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22 September 2017

Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis

1 reference

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22 September 2017

Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing

1 reference

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22 September 2017

Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity

1 reference

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CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins

1 reference

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Definition of the readily releasable pool of vesicles at hippocampal synapses

1 reference

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22 September 2017

Neurexin III alpha: extensive alternative splicing generates membrane-bound and soluble forms

1 reference

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22 September 2017

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

1 reference

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1 reference

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17 June 2018

Incomplete penetrance of NRXN1 deletions in families with schizophrenia

1 reference

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20 August 2018

Sequence analysis of 17 NRXN1 deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560990

20 August 2018

The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response.

1 reference

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20 August 2018

Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response.

1 reference

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Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons.

1 reference

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20 August 2018

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10.1016/J.STEM.2015.07.017

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22 September 2017

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22 September 2017

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22 September 2017

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