(Q44421288)

2 December 2017

title

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II (English)

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-003-0949-X

28 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

1 reference

https://api.crossref.org/works/10.1007/S00439-003-0949-X

28 December 2023

5

Charalambos B. Magoulas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

author name string

Robin C. C. Ryther

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

Lindsay M. McGuinness

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

John A. Phillips

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

Chanda T. Moseley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

Iain C. A F. Robinson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

James G. Patton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12720086

28 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12720086

28 December 2023

publication date

29 April 2003

1 reference

2 December 2017

1 reference

2 December 2017

volume

113

1 reference

2 December 2017

issue

2

1 reference

2 December 2017

page(s)

140-148

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-003-0949-x

2 December 2017

exact match

0 references

cites work

Regulation of alternative splicing by SRrp86 through coactivation and repression of specific SR proteins

1 reference

12 December 2020

Mechanisms responsible for dominant expression of human growth hormone gene mutations

1 reference

12 December 2020

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study

1 reference

12 December 2020

The 20,000 Da variant of human growth hormone does not bind to growth hormone receptors in human liver

1 reference

12 December 2020

Alternative pre-mRNA splicing: the logic of combinatorial control

1 reference

12 December 2020

A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency

1 reference

12 December 2020

Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH.

1 reference

12 December 2020

Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency

1 reference

12 December 2020

Finding splice sites within a wilderness of RNA

1 reference

12 December 2020

Human growth hormone and extracellular domain of its receptor: crystal structure of the complex

1 reference

12 December 2020

An evaluation of the functions of the 22-kilodalton (kDa), the 20-kDa, and the N-terminal polypeptide forms of human growth hormone using transgenic mice

1 reference

12 December 2020

Exon recognition in vertebrate splicing

1 reference

12 December 2020

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.

1 reference

12 December 2020

Misfolded growth hormone causes fragmentation of the Golgi apparatus and disrupts endoplasmic reticulum-to-Golgi traffic

1 reference

12 December 2020

Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion

1 reference

12 December 2020

Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency

1 reference

12 December 2020

An exon splice enhancer mutation causes autosomal dominant GH deficiency

1 reference

12 December 2020

A systematic analysis of the factors that determine the strength of pre-mRNA splicing enhancers.

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolated GH deficiency with dominant inheritance: new mutations, new insights

1 reference

12 December 2020

A secreted fluorescent reporter targeted to pituitary growth hormone cells in transgenic mice

1 reference

12 December 2020

A novel mechanism of aberrant pre-mRNA splicing in humans

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner

1 reference

12 December 2020

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

1 reference

12 December 2020

The human growth hormone gene is regulated by a multicomponent locus control region

1 reference

12 December 2020

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

1 reference

12 December 2020

Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis

1 reference

12 December 2020

Long-term follow-up evaluation of magnetic resonance imaging in the prognosis of permanent GH deficiency

1 reference

12 December 2020

The 20-kilodalton (kDa) human growth hormone (hGH) differs from the 22-kDa hGH in the complex formation with cell surface hGH receptor and hGH-binding protein circulating in human plasma

1 reference

12 December 2020

The human growth hormone gene cluster locus control region supports position-independent pituitary- and placenta-specific expression in the transgenic mouse

1 reference

12 December 2020

The molecular genetics of growth hormone deficiency

1 reference

12 December 2020

12

18

763

Coolidge

1995

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-003-0949-X

A general role for splicing enhancers in exon definition

28 December 2023

21

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00439-003-0949-X

28 December 2023

Identifiers

0 references

1 reference