Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice.
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 de...
Main Authors: | McGuinness, L, Magoulas, C, Sesay, A, Mathers, K, Carmignac, D, Manneville, J, Christian, H, Phillips, J, Robinson, I |
---|---|
格式: | Journal article |
语言: | English |
出版: |
2003
|
相似书籍
-
A secreted fluorescent reporter targeted to pituitary growth hormone cells in transgenic mice.
由: Magoulas, C, et al.
出版: (2000) -
Increasing hub disruption parallels dementia severity in autosomal
dominant Alzheimer’s disease
出版: (2024-10-01) -
Autosomal Dominant Alternating Hemiplegia
由: J Gordon Millichap
出版: (1993-01-01) -
Autosomal Dominant Partial Epilepsies
由: J Gordon Millichap
出版: (2000-07-01) -
Autosomal Dominant Juvenile Amyotrophic LS
由: J Gordon Millichap
出版: (1999-09-01)