(Q30529349)

14 August 2017

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome (English)

1 reference

14 August 2017

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1 reference

13

Daniel H Geschwind

1 reference

14 August 2017

14

Ricardo E Dolmetsch

1 reference

14 August 2017

Aleksandr Shcheglovitov

5

object named as

Aleksandr Shcheglovitov

1 reference

14 August 2017

2

Thomas Portmann

1 reference

14 August 2017

12

Joachim Hallmayer

1 reference

14 August 2017

3

Irina Voineagu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

7

Branden Cord

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

8

Theo D. Palmer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

author name string

Masayuki Yazawa

4

1 reference

14 August 2017

Sachiko Chikahisa

9

1 reference

14 August 2017

Seiji Nishino

10

1 reference

14 August 2017

Sergiu P. Paşca

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

Anca M. Paşca

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

Jonathan A. Bernstein

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

Daniel H. Geschwind

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

18 December 2024

language of work or name

English

0 references

publication date

27 November 2011

1 reference

full work available at URL

14 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517299

file format

HyperText Markup Language

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

https://europepmc.org/articles/PMC3517299

18 December 2024

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

https://europepmc.org/articles/PMC3517299?pdf=render

18 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:22120178

http://www.nature.com/articles/nm.2576.pdf

18 December 2024

1 reference

http://www.nature.com/articles/nm.2576

18 December 2024

1 reference

18 December 2024

1 reference

14 August 2017

17

1 reference

14 August 2017

12

1 reference

14 August 2017

1657-1662

1 reference

describes a project that uses

14 August 2017

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Single-cell gene-expression profiling reveals qualitatively distinct CD8 T cells elicited by different gene-based vaccines.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

A big-world network in ASD: Dynamical connectivity analysis reflects a deficit in long-range connections and an excess of short-range connections

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

The corticofugal neuron-associated genes ROBO1, SRGAP1, and CTIP2 exhibit an anterior to posterior gradient of expression in early fetal human neocortex development.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Functional impact of global rare copy number variation in autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Phospholemman modulates the gating of cardiac L-type calcium channels.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Coordination of sonic hedgehog and Wnt signaling determines ventral and dorsal telencephalic neuron types from human embryonic stem cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Roscovitine binds to novel L-channel (CaV1.2) sites that separately affect activation and inactivation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Common genetic variants on 5p14.1 associate with autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Reduced gyral window and corpus callosum size in autism: possible macroscopic correlates of a minicolumnopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Species-specific distributions of tyrosine hydroxylase-immunoreactive neurons in the prefrontal cortex of anthropoid primates

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Illumination controls differentiation of dopamine neurons regulating behaviour

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Gene expression study on peripheral blood identifies progranulin mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

The determination of projection neuron identity in the developing cerebral cortex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

lumi: a pipeline for processing Illumina microarray

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Immune transcriptome alterations in the temporal cortex of subjects with autism.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Satb2 is a postmitotic determinant for upper-layer neuron specification in the neocortex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Satb2 regulates callosal projection neuron identity in the developing cerebral cortex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Induced pluripotent stem cell lines derived from human somatic cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Roscovitine, a cyclin-dependent kinase inhibitor, affects several gating mechanisms to inhibit cardiac L-type (Ca(V)1.2) calcium channels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Directed neural differentiation of human embryonic stem cells via an obligated primitive anterior stage.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Autism spectrum disorders: developmental disconnection syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Transcription factor profiling in individual hematopoietic progenitors by digital RT-PCR

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Signaling to the nucleus by an L-type calcium channel-calmodulin complex through the MAP kinase pathway

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

CACNA1C (rs1006737) is associated with schizophrenia

20 June 2018

1 reference

In vitro differentiation of transplantable neural precursors from human embryonic stem cells

21 January 2018

1 reference

Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia

21 January 2018

1 reference

Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression

21 January 2018

1 reference

Characterization of five evolutionary conserved regions of the human tyrosine hydroxylase (TH) promoter: implications for the engineering of a human TH minimal promoter assembled in a self-inactivating lentiviral vector system

21 January 2018

1 reference

Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation

21 January 2018

1 reference

Human ES cell-derived neural rosettes reveal a functionally distinct early neural stem cell stage

21 January 2018

1 reference

Immunohistochemical expression of doublecortin in the human cerebrum: comparison of normal development and neuronal migration disorders

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Regionalization of the developing forebrain: a comparison of FORSE-1, Dlx-2, and BF-1.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517299

Dopamine metabolism increases in post-mortem schizophrenic basal ganglia

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22120178

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NM.2576

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

1 reference