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

Abstract:

Autosomal dominant GH deficiency type II (IGHDII) is often associated with mutations in the human GH gene (GH1) that give rise to products lacking exon-3 ((Deltaexon3)hGH). In the heterozygous state, these act as dominant negative mutations that prevent the release of human pituitary GH (hGH). To determine the mechanisms of these dominant negative effects, we used a combination of transgenic and morphological approaches in both in vitro and in vivo models. Rat GC cell lines were generated exp...

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Publication status:
Published

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Publisher copy:
10.1210/en.2002-220847

Authors


McGuinness, L More by this author
Magoulas, C More by this author
Mathers, K More by this author
Carmignac, D More by this author
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Journal:
Endocrinology
Volume:
144
Issue:
2
Pages:
720-731
Publication date:
2003-02-05
DOI:
EISSN:
1945-7170
ISSN:
0013-7227
URN:
uuid:54a1bf4f-1abd-45fc-82eb-046b5d7c9cdd
Source identifiers:
312000
Local pid:
pubs:312000

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