(Q46842637)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Gabrielle Gold-von Simson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Maire Leyne

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

James Mull

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Linda M Rolnitzky

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Dena Berlin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Felicia B Axelrod

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Susan A Slaugenhaupt

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

1 February 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

186-190

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18091349%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1203/pdr.0b013e31815ef74b

29 December 2019

exact match

0 references

cites work

Familial dysautonomia

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Survival in familial dysautonomia: Impact of early intervention.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Familial dysautonomia is caused by mutations of the IKAP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Purification and characterization of the human elongator complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Identification of the first non-Jewish mutation in familial Dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31815EF74B