Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II (Q44421288)

2 December 2017

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

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28 December 2023

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28 December 2023

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28 December 2023

5

Charalambos B. Magoulas

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28 December 2023

author name string

Robin C. C. Ryther

1

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28 December 2023

Lindsay M. McGuinness

2

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28 December 2023

John A. Phillips

3

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28 December 2023

Chanda T. Moseley

4

1 reference

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28 December 2023

Iain C. A F. Robinson

6

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28 December 2023

James G. Patton

7

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28 December 2023

language of work or name

English

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National Center for Biotechnology Information

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28 December 2023

publication date

29 April 2003

1 reference

2 December 2017

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2 December 2017

113

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2 December 2017

2

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2 December 2017

140-148

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

2 December 2017

0 references

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12 December 2020

Mechanisms responsible for dominant expression of human growth hormone gene mutations

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

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12 December 2020

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

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12 December 2020

Alternative pre-mRNA splicing: the logic of combinatorial control

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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

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

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12 December 2020

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

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12 December 2020

Finding splice sites within a wilderness of RNA

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12 December 2020

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

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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

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12 December 2020

Exon recognition in vertebrate splicing

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

An exon splice enhancer mutation causes autosomal dominant GH deficiency

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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

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A novel mechanism of aberrant pre-mRNA splicing in humans

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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

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

The molecular genetics of growth hormone deficiency

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12 December 2020

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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