(Q39790188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812236%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity (English)

1 reference

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9 February 2020

6

1 reference

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9 February 2020

4

M O Savage

1 reference

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9 February 2020

5

A J L Clark

1 reference

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9 February 2020

author name string

A David

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812236%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

F Miraki-Moud

series ordinal

2

1 reference

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9 February 2020

N J Shaw

series ordinal

3

1 reference

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9 February 2020

publication date

7 October 2009

1 reference

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European Journal of Endocrinology

9 February 2020

published in

1 reference

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9 February 2020

volume

162

1 reference

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9 February 2020

issue

1

1 reference

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9 February 2020

page(s)

37-42

1 reference

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Splicing of mRNA precursors: the role of RNAs and proteins in catalysis

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=2792980

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Diagnostic and therapeutic advances in growth hormone insensitivity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Are splicing mutations the most frequent cause of hereditary disease?

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Alternative pre-mRNA splicing: the logic of combinatorial control

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

RNA splicing. U2 fulfils a commitment

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Functional recognition of the 3' splice site AG by the splicing factor U2AF35.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Identification of a region critical for proteolysis of the human growth hormone receptor

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2792980

Laron dwarfism and mutations of the growth hormone-receptor gene

20 August 2018

1 reference

12 December 2020

The organization of 3' splice-site sequences in mammalian introns

1 reference

12 December 2020

A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein

1 reference

12 December 2020

Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome)

1 reference

12 December 2020

Bimolecular exon ligation by the human spliceosome

1 reference

12 December 2020

Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree

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

An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

1 reference

12 December 2020

Identifiers

DOI

10.1530/EJE-09-0583

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19812236%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

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9 February 2020

PubMed publication ID

19812236

1 reference