(Q35055037)

6 August 2017

0 references

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency (English)

1 reference

6 August 2017

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Lou Metherell

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Tatiana V Novoselova

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Shoshana R Rath

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Karen Carpenter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Nicholas Pachter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jan E Dickinson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Glynis Price

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Catherine S Choong

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

language of work or name

English

0 references

publication date

2 December 2014

1 reference

The Journal of Clinical Endocrinology and Metabolism

6 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

E350-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Familial glucocorticoid deficiency: New genes and mechanisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Multiple splicing defects in an intronic false exon

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Statistical features of human exons and their flanking regions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Exon recognition in vertebrate splicing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Single-copy inverted repeats associated with regional genetic duplications in gamma fibrinogen and immunoglobulin genes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Interference of nonsense mutations with eukaryotic messenger RNA stability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4318891

Construction of a novel database containing aberrant splicing mutations of mammalian genes

25 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25459914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2014-3641

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25459914%20AND%20SRC:MED&resulttype=core&format=json