(Q35288257)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Specific correction of a splice defect in brain by nutritional supplementation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Ranjit S Shetty

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Cary S Gallagher

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Matthew M Hims

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

James Mull

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Maire Leyne

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

James Pickel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

David Kwok

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Susan A Slaugenhaupt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

5 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

4093-4101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Elongator complex: how many roles does it play?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Alternative splicing: new insights from global analyses

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Isolation of mouse neuritic mRNAs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Familial dysautonomia: update and recent advances

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Anesthesia management of familial dysautonomia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Splicing regulators: targets and drugs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

The splicing machinery is a genetic modifier of disease severity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

12 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=3188989

Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Identification of the first non-Jewish mutation in familial Dysautonomia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Pre-mRNA splicing and human disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Listening to silence and understanding nonsense: exonic mutations that affect splicing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Killing the messenger: new insights into nonsense-mediated mRNA decay

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

A genomic view of alternative splicing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Purification and characterization of the human elongator complex

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Familial dysautonomia is caused by mutations of the IKAP gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

IKAP is a scaffold protein of the IkappaB kinase complex

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Alternative splicing in disease and therapy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Immature and mature cortical neurons engage different apoptotic mechanisms involving caspase-3 and the mitogen-activated protein kinase pathway

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188989

Killing the messenger: new insights into nonsense-mediated mRNA decay

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR333

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDR333

Incidence of familial dysautonomia in Israel 1977-1981

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21821670

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21821670

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21821670

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21821670%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

21821670

1 reference