(Q34064901)

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

circulatory system

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Paula Dietrich

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Junming Yue

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Shuyu E

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Ioannis Dragatsis

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

0 references

publication date

28 October 2011

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

e27015

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

copyright license

Creative Commons Attribution 4.0 International

28 October 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

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1 reference

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1 reference

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5 July 2018

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

1 reference

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1 reference

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1 reference

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Central autonomic dysfunction with defective lacrimation; report of five cases.

1 reference

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The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies

1 reference

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

1 reference

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1 reference

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Essential role of endothelial Smad4 in vascular remodeling and integrity.

1 reference

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1 reference

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1 reference

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Tgfbeta signaling is required for atrioventricular cushion mesenchyme remodeling during in vivo cardiac development

1 reference

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5 July 2018

Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

A threshold of GATA4 and GATA6 expression is required for cardiovascular development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Endothelial/pericyte interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Controlled gene activation and inactivation in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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An early step in wobble uridine tRNA modification requires the Elongator complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Architectural plan for the heart: early patterning and delineation of the chambers and the nodes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Restricted inactivation of serum response factor to the cardiovascular system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Differential requirements for Smad4 in TGFbeta-dependent patterning of the early mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Targeted inactivation of serum response factor in the developing heart results in myocardial defects and embryonic lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

What cardiovascular defect does my prenatal mouse mutant have, and why?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

Purification and characterization of the human elongator complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Requirement for the murine zinc finger protein ZFR in perigastrulation growth and survival

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Physiology of angiogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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

1 reference

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A method for the generation of conditional gene repair mutations in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Chamber formation and morphogenesis in the developing mammalian heart

1 reference

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Abnormalities of the genitourinary tract in female mice lacking GATA5.

1 reference

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Conditional mutagenesis in mice with heat shock promoter-driven cre transgenes.

1 reference

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The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development

1 reference

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Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

IKAP is a scaffold protein of the IkappaB kinase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Differential mRNA regulation of integrin subunits alpha V, beta 1, beta 3, and beta 5 during mouse embryonic organogenesis

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

5 July 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

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Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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Familial dysautonomia. A report of genetic and clinical studies, with a 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=3203942

5 July 2018

Familial dysautonomia: diagnosis, pathogenesis and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3203942

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

21 January 2018

Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

21 January 2018

Genomic organization and chromosomal localization of the mouse IKBKAP gene

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

21 January 2018

Cloning, characterization, and genomic structure of the mouse Ikbkap gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

21 January 2018

Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

21 January 2018

Differential expression of beta3 integrin gene in chick and mouse cranial neural crest cells.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

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Multiple lineage-specific roles of Smad4 during neural crest development

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0027015

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Onset of cardiac function during early mouse embryogenesis coincides with entry of primitive erythroblasts into the embryo proper

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Circulation is established in a stepwise pattern in the mammalian embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased major salivary gland secretion in familial dysautonomia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Taste and smell in familial dysautonomia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Essential role of Smad4 in maintaining cardiomyocyte proliferation during murine embryonic heart development

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22046433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0027015

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2011PLoSO...627015D

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

0 references

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