(Q30580391)

20 September 2017

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation (English)

1 reference

20 September 2017

1 reference

Marisa Z Jackson

1

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20 September 2017

Katherine A Gruner

series ordinal

2

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20 September 2017

Charles Qin

series ordinal

3

1 reference

20 September 2017

Warren G Tourtellotte

series ordinal

4

1 reference

20 September 2017

language of work or name

English

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publication date

1 June 2014

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20 September 2017

10

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inferred from page(s)

published in

Development

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20 September 2017

141

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20 September 2017

12

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20 September 2017

2452-2461

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Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

A sympathetic neuron autonomous role for Egr3-mediated gene regulation in dendrite morphogenesis and target tissue innervation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Mechanisms of disease in hereditary sensory and autonomic neuropathies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Transcriptional control of differentiation and neurogenesis in autonomic ganglia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Egr3 dependent sympathetic target tissue innervation in the absence of neuron death

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

The role of Wnt in cell signaling and cell adhesion during early vertebrate 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=4050699

Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Axonal projections of mechanoreceptive dorsal root ganglion neurons depend on Ret.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

High levels of Id1 expression define B1 type adult neural 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=4050699

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Loss-of-function of IKAP/ELP1: could neuronal migration defect underlie familial dysautonomia?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Abnormal sympathetic nervous system development and physiological dysautonomia in Egr3-deficient mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Regulation of low affinity neurotrophin receptor (p75(NTR)) by early growth response (Egr) transcriptional regulators

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Hereditary sensory and autonomic neuropathies: types II, III, and IV

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Specification of sensory neuron cell fate from the neural crest

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Transcriptional regulation of myotube fate specification and intrafusal muscle fiber morphogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

20 June 2018

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

A highly efficient recombineering-based method for generating conditional knockout 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=4050699

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Familial dysautonomia is caused by mutations of the IKAP gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Generalized lacZ expression with the ROSA26 Cre reporter strain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Sensory ataxia and muscle spindle agenesis in mice lacking the transcription factor Egr3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Involvement of leukemia inhibitory factor and nerve growth factor in the development of dorsal root ganglion neurons.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Pathways of trunk neural crest cell migration in the mouse embryo as revealed by vital dye labelling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

A new mouse embryonic stem cell line with good germ line contribution and gene targeting frequency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

A common silencer element in the SCG10 and type II Na+ channel genes binds a factor present in nonneuronal cells but not in neuronal 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=4050699

Cranial neural crest cells on the move: their roles in craniofacial 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=4050699

IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

High-efficiency CAG-FLPe deleter mice in C57BL/6J background.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

The transcription factor Egr3 modulates sensory axon-myotube interactions during muscle spindle morphogenesis.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Specific ablation of the transcription factor CREB in sympathetic neurons surprisingly protects against developmentally regulated apoptosis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4050699

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews

26 November 2018

1 reference

12 December 2020

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia

1 reference

12 December 2020

Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia

1 reference

12 December 2020

Progressive sensory loss in familial dysautonomia

1 reference

12 December 2020

Incidence of familial dysautonomia in Israel 1977-1981

1 reference

12 December 2020

A cephalometric evaluation of craniofacial morphology in familial dysautonomia

1 reference

12 December 2020

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

1 reference

12 December 2020

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

1 reference

12 December 2020

Identifiers

DOI

10.1242/DEV.107797

1 reference

20 September 2017

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20 September 2017

PubMed publication ID

24917501

1 reference