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Items: 1 to 20 of 58

1.

Endoplasmic reticulum stress and apoptosis contribute to the pathogenesis of dominantly inherited isolated GH deficiency due to GH1 gene splice site mutations.

Ariyasu D, Yoshida H, Yamada M, Hasegawa Y.

Endocrinology. 2013 Sep;154(9):3228-39. doi: 10.1210/en.2013-1249.

PMID:
23736291
2.
3.

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

Lee MS, Wajnrajch MP, Kim SS, Plotnick LP, Wang J, Gertner JM, Leibel RL, Dannies PS.

Endocrinology. 2000 Mar;141(3):883-90.

PMID:
10698162
4.

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

McGuinness L, Magoulas C, Sesay AK, Mathers K, Carmignac D, Manneville JB, Christian H, Phillips JA 3rd, Robinson IC.

Endocrinology. 2003 Feb;144(2):720-31.

PMID:
12538635
5.
6.

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA.

Growth Horm IGF Res. 2014 Oct;24(5):180-6. doi: 10.1016/j.ghir.2014.07.001.

PMID:
25116472
8.

Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.

Salemi S, Yousefi S, Lochmatter D, Eblé A, Deladoëy J, Robinson IC, Simon HU, Mullis PE.

Endocrinology. 2007 Jan;148(1):45-53.

PMID:
17038549
9.

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Babu D, Mellone S, Fusco I, Petri A, Walker GE, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M.

Endocrinology. 2014 May;155(5):1786-92. doi: 10.1210/en.2013-2146.

PMID:
24635352
10.

Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

Millar DS, Horan M, Chuzhanova NA, Cooper DN.

Hum Genomics. 2010 Jun;4(5):289-301.

11.

6-Shogaol induces apoptosis in human hepatocellular carcinoma cells and exhibits anti-tumor activity in vivo through endoplasmic reticulum stress.

Hu R, Zhou P, Peng YB, Xu X, Ma J, Liu Q, Zhang L, Wen XD, Qi LW, Gao N, Li P.

PLoS One. 2012;7(6):e39664. doi: 10.1371/journal.pone.0039664.

12.

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.

Kempers MJ, van der Crabben SN, de Vroede M, Alfen-van der Velden J, Netea-Maier RT, Duim RA, Otten BJ, Losekoot M, Wit JM.

Horm Res Paediatr. 2013;80(6):390-6. doi: 10.1159/000355403.

PMID:
24280736
13.

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG.

J Clin Endocrinol Metab. 2009 Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746.

14.

Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations.

Petkovic V, Godi M, Lochmatter D, Eblé A, Flück CE, Robinson IC, Mullis PE.

Endocrinology. 2010 Jun;151(6):2650-8. doi: 10.1210/en.2009-1280.

PMID:
20351314
15.

Oleate rescues INS-1E β-cells from palmitate-induced apoptosis by preventing activation of the unfolded protein response.

Sommerweiss D, Gorski T, Richter S, Garten A, Kiess W.

Biochem Biophys Res Commun. 2013 Nov 29;441(4):770-6. doi: 10.1016/j.bbrc.2013.10.130.

16.
17.

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Fofanova OV, Evgrafov OV, Polyakov AV, Peterkova VA, Dedov II.

Hormones (Athens). 2006 Oct-Dec;5(4):288-94.

18.

Combined effect of mutations of the GH1 gene and its proximal promoter region in a child with growth hormone neurosecretory dysfunction (GHND).

Rojas-Gil AP, Ziros PG, Kanetsis E, Papathanassopoulou V, Nikolakopoulou NM, He K, Frank SJ, Papavassiliou AG, Spiliotis BE.

J Mol Med (Berl). 2007 Sep;85(9):1005-13.

PMID:
17479231
19.
20.

Induction of apoptosis coupled to endoplasmic reticulum stress in human prostate cancer cells by n-butylidenephthalide.

Chiu SC, Chen SP, Huang SY, Wang MJ, Lin SZ, Harn HJ, Pang CY.

PLoS One. 2012;7(3):e33742. doi: 10.1371/journal.pone.0033742.

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