(Q35990850)

11 August 2017

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect (English)

1 reference

11 August 2017

7

James F Gusella

1 reference

11 August 2017

5

Maire Leyne

1 reference

11 August 2017

2

Ranjit S Shetty

1 reference

11 August 2017

Matthew M Hims

1

1 reference

11 August 2017

James Pickel

3

1 reference

11 August 2017

James Mull

4

1 reference

11 August 2017

Lijuan Liu

6

1 reference

11 August 2017

Susan A Slaugenhaupt

8

1 reference

11 August 2017

17 July 2007

1 reference

11 August 2017

1 reference

11 August 2017

90

1 reference

11 August 2017

3

1 reference

11 August 2017

389-396

1 reference

describes a project that uses

11 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1976430/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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=1976430

EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Identification of the first non-Jewish mutation in familial Dysautonomia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Mechanisms of alternative pre-messenger RNA splicing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Pre-mRNA splicing and human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

BAC to the future: the use of bac transgenic mice for neuroscience research

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Purification and characterization of the human elongator complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Size matters: use of YACs, BACs and PACs in transgenic animals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Familial dysautonomia is caused by mutations of the IKAP gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

A new method for generating point mutations in bacterial artificial chromosomes by homologous recombination in Escherichia coli

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Insertion of disease-causing mutations in BACs by homologous recombination in Escherichia coli

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

RNA processing and human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Familial dysautonomia: diagnosis, pathogenesis and management

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Familial dysautonomia (a brief review)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Common deletion polymorphisms in the human genome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Comparative analysis detects dependencies among the 5' splice-site positions

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Survival in familial dysautonomia: Impact of early intervention.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976430

Incidence of familial dysautonomia in Israel 1977-1981

23 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.05.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.05.012

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.05.012

Rapid engineering of bacterial artificial chromosomes using oligonucleotides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.05.012

Visualization of large DNA molecules by electron microscopy with polyamines: application to the analysis of yeast endogenous and artificial chromosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2007.05.012

10.1016/J.YGENO.2007.05.012

7 January 2021

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

17644305

1 reference