Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity (Q34044639)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Mark Caulfield

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

6

Savage MO

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

8

Clark AJ

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

Akker SA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Munroe PB

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Rose SJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Chew SL

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

20 July 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

641-646

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

Multiple splicing defects in an intronic false exon

9 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

An exonic splicing silencer in the testes-specific DNA ligase III beta exon

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

The DNA sequence of human chromosome 22

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

Pathways for selection of 5' splice sites by U1 snRNPs and SF2/ASF.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

A novel set of spliceosome-associated proteins and the essential splicing factor PSF bind stably to pre-mRNA prior to catalytic step II of the splicing reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

Dimerization of the extracellular domain of the human growth hormone receptor by a single hormone molecule

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

Relationship between "proto-splice sites" and intron phases: evidence from dicodon analysis

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235493

A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution

28 October 2018

1 reference

12 December 2020

Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA

1 reference

12 December 2020

Laron dwarfism and mutations of the growth hormone-receptor gene

1 reference

12 December 2020

Hierarchy for 5′ splice site preference determined in vivo

1 reference

12 December 2020

Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome)

1 reference

12 December 2020

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

1 reference

12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

12 December 2020

Evidence for partial growth hormone insensitivity among patients with idiopathic short stature

1 reference

12 December 2020

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

1 reference

12 December 2020

Phenotype: genotype relationships in growth hormone insensitivity syndrome

1 reference

12 December 2020

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

12 December 2020

Identifiers

DOI

10.1086/323266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11468686%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference