Citations for
1GH1, IGF1
Common polymorphisms in the GH/IGF-1 axis contribute to growth in extremely tall subjects.
Hendriks AE, Brown MR, Boot AM, Oostra BA, de Jong FH, Drop SL, Parks JS.
Growth Horm IGF Res 21(6):318-24. doi: 10.1016/j.ghir.2011.08.001. Epub 2011 Sep 25. 2011
2FGF21, GH1
Growth hormone induces hepatic production of fibroblast growth factor 21 through a mechanism dependent on lipolysis in adipocytes.
Chen W, Hoo RL, Konishi M, Itoh N, Lee PC, Ye HY, Lam KS, Xu A.
J Biol Chem 286(40):34559-66. Epub 2011 Aug 17. 2011
Nuclear factor-kappaB (NF-kappaB) p65 interacts with Stat5b in growth plate chondrocytes and mediates the effects of growth hormone on chondrogenesis and on the expression of insulin-like growth factor-1 and bone morphogenetic protein-2.
Wu S, Morrison A, Sun H, De Luca F.
J Biol Chem 286(28):24726-34. Epub 2011 May 18. 2011
The role of ghrelin in GH secretion and GH disorders.
Nass R, Gaylinn BD, Thorner MO.
Mol Cell Endocrinol 340(1):10-4. Epub 2011 Apr 1. Review. 2011
5CDH1, CDH3, GH1, ZEB2
Growth hormone (GH)-dependent expression of a natural antisense transcript induces zinc finger E-box-binding homeobox 2 (ZEB2) in the glomerular podocyte: a novel action of gh with implications for the pathogenesis of diabetic nephropathy.
Kumar PA, Kotlyarevska K, Dejkhmaron P, Reddy GR, Lu C, Bhojani MS, Menon RK.
J Biol Chem 285(41):31148-56. Epub 2010 Aug 3. 2010
Genetics of isolated growth hormone deficiency.
Mullis PE.
J Clin Res Pediatr Endocrinol 2(2):52-62. Epub 2010 May 1. Review. 2010
7GH1, IGF1
GH and IGF1 levels are positively associated with musculotendinous collagen expression: experiments in acromegalic and GH deficiency patients.
Doessing S, Holm L, Heinemeier KM, Feldt-Rasmussen U, Schjerling P, Qvortrup K, Larsen JO, Nielsen RH, Flyvbjerg A, Kjaer M.
Eur J Endocrinol 163(6):853-62. Epub 2010 Sep 21. 2010
GH modulates hepatic epidermal growth factor signaling in the mouse.
González L, Díaz ME, Miquet JG, Sotelo AI, Fernández D, Dominici FP, Bartke A, Turyn D.
J Endocrinol 204(3):299-309. Epub 2009 Dec 23. 2010
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 94(12):4728-34. Epub 2009 Oct 16. 2009
Growth hormone and protein metabolism.
Moller N, Vendelbo MH, Kampmann U, Christensen B, Madsen M, Norrelund H, Jorgensen JO.
Clin Nutr 28(6):597-603. Epub 2009 Sep 20. Review. 2009
Effects of growth hormone and free fatty acids on insulin sensitivity in patients with type 1 diabetes.
Salgin B, Marcovecchio ML, Williams RM, Jackson SJ, Bluck LJ, Humphreys SM, Acerini CL, Dunger DB.
J Clin Endocrinol Metab 94(9):3297-305. Epub 2009 Jun 30. 2009
Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically.
Solis AS, Peng R, Crawford JB, Phillips JA 3rd, Patton JG.
J Biol Chem 283(35):23619-26. Epub 2008 Jun 27. 2008
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency.
Giordano M, Godi M, Mellone S, Petri A, Vivenza D, Tiradani L, Carlomagno Y, Ferrante D, Arrigo T, Corneli G, Bellone S, Giacopelli F, Santoro C, Bona G, Momigliano-Richiardi P.
J Clin Endocrinol Metab 93(3):1005-12. Epub 2007 Dec 26. 2008
14GH1, IGHD2
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
Shariat N, Holladay CD, Cleary RK, Phillips JA 3rd, Patton JG.
Clin Genet 74(6):539-45. Epub 2008 Jun 11. 2008
15GH1, IGHD2
Exon Splice Enhancer Mutation (GH-E32A) Causes Autosomal Dominant Growth Hormone Deficiency.
Petkovic V, Lochmatter D, Turton J, Clayton PE, Trainer PJ, Dattani MT, EblŽ A, Robinson IC, FlŸck CE, Mullis PE.
J Clin Endocrinol Metab 92(11):4427-4435. Epub 2007 Aug 28. 2007
16GH1, IGHD2
Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
Petkovic V, Lochmatter D, Turton J, Clayton PE, Trainer PJ, Dattani MT, Eblé A, Robinson IC, Flück CE, Mullis PE.
J Clin Endocrinol Metab 92(11):4427-35. Epub 2007 Aug 28.PMID: 17726075 [PubMed - 2007
17GH1, GHR
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Horan M, Newsway V, Yasmin, Lewis MD, Easter TE, Rees DA, Mahto A, Millar DS, Procter AM, Scanlon MF, Wilkinson IB, Hall IP, Wheatley A, Blakey J, Bath PM, Cockcroft JR, Krawczak M, Cooper DN.
Hum Genet 119(5):527-40. Epub 2006 Mar 30. 2006
18GH1, IGHD2
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency.
Vivenza D, Guazzarotti L, Godi M, Frasca D, di Natale B, Momigliano-Richiardi P, Bona G, Giordano M.
J Clin Endocrinol Metab 91(3):980-6. Epub 2005 Dec 20. 2006
Genetic disorders in the growth hormone - insulin-like growth factor-I axis.
Walenkamp MJ, Wit JM.
Horm Res 66(5):221-30. Review. 2006
20GH1, IGHD2
Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.
Mullis PE, Robinson IC, Salemi S, Eble A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G.
J Clin Endocrinol Metab 90(4):2089-96. Epub 2005 Jan 25. 2005
Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.
Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN.
Hum Mutat 21(4):408-23. 2003
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM.
Hum Mutat 21(4):424-40. 2003
23GH1, SOCS2
Estrogen inhibits GH signaling by suppressing GH-induced JAK2 phosphorylation, an effect mediated by SOCS-2.
Leung KC, Doyle N, Ballesteros M, Sjogren K, Watts CK, Low TH, Leong GM, Ross RJ, Ho KK.
Proc Natl Acad Sci U S A 100(3):1016-21. Epub 2003 Jan 27. 2003
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.
Takahashi I, Takahashi T, Komatsu M, Sato T, Takada G.
Clin Genet 61(3):222-5. 2002
Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.
Kamijo T, Hayashi Y, Seo H, Ogawa M.
Growth Horm IGF Res 9 Suppl B:31-4; discussion 35-6. Review 1999
26GH1, GH2
Human lymphocytes express hGH-N gene transcripts of 22kDa, 20kDa and minor forms of GH, but not hGH-V gene.
Hattori N, Kitagawa K, Inagaki C.
Eur J Endocrinol 141(4):413-8 1999
27CD79B, GH1, LCR-GH@, SCN4A
Physical linkage of the human growth hormone gene cluster and the CD79b (Igbeta/B29) gene.
Bennani-Baiti IM, et al.
Genomics 48 : 258-264. 1998
28GH1, IGHD2
Familial growth hormone deficiency associated with MRI abnormalities.
Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA 3rd, Daneman D.
Am J Med Genet 80(2):128-32. 1998
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene.
Giordano M, Marchetti C, Chiorboli E, Bona G, Momigliano Richiardi P.
Hum Genet 100(2):249-55. 1997
Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.
Missarelli C, Herrera L, Mericq V, Carvallo P.
Hum Genet 101(1):113-7. 1997
Two brothers with a 7.0 kb gene deletion associated with isolated growth hormone deficiency type 1A.
Sercan OH, et al.
J Pediatr Endocrinol Metab 9 : 423-427. 1996
Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.
Dastot F, et al.
Proc Natl Acad Sci U S A 93 : 10723-10728. 1996
33CSH1, CSH2, GH1
Splicing variants of the human growth hormone mRNA: detection in pituitary, mononuclear cells and dermal fibroblasts.
Palmetshofer A, Zechner D, Luger TA, Barta A.
Mol Cell Endocrinol 113(2):225-34. 1995
Isolated growth hormone deficiency type IA associated with a 45-kilobase gene deletion within the human growth hormone gene cluster in an Italian family.
Ghizzoni L, et al.
Pediatr Res 36 : 654-659. 1994
A new mutation causing inherited growth hormone deficiency : a coumpound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.
Igarashi Y, et al.
Hum Mol Genet 2 : 1073-1074. 1993
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
Cogan JD, et al.
J Clin Endocrinol Metab 76 : 1224-1228. 1993
Genetic and molecular analysis of familial isolated growth hormone deficiency.
Ruiz-Pacheco R, et al.
Hum Genet 92 : 273-281. 1993
Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency.
Ruiz-Pacheco R, et al.
Hum Mol Genet 2 : 1723-1725. 1993
Characterization of an alternative promoter in the human growth hormone gene.
Courtois SJ, et al.
J Biol Chem 267 : 19736-19743. 1992
40GH1, GH2, CSH1, CSHL1
Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster.
MacLeod JN, Lee AK, Liebhaber SA, Cooke NE.
J Biol Chem 267(20):14219-26. 1992
RsaI polymorphism of the human growth hormone gene (GH1).
Oriola J, et al.
Nucleic Acids Res 19 : 6983. 1991
A framshift mutation causing isolated growth hormone deficiency type 1A.
Duquesnoy P, et al.
Am J Hum Genet 47 : A110. 1990
43GH1, GH@
Molecular basis of human growth hormone gene deletions.
Vnencak-Jones CL, Phillips JA 3rd, Chen EY, Seeburg PH.
Proc Natl Acad Sci U S A 85 : 5615-5619. 1988
44GH@, GH1, CSH1, CSH2, CSHL1
The human growth hormone gene family : structure and evolution of the chromosomal locus.
Barsh GS, Seeburg PH, Gelinas RE.
Nucleic Acids Res 11 : 3939-3958. 1983
45GH1, GH@, CSH1, CSH2, CSHL1
Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24.
Harper ME, Barrera-Saldana HA, Saunders GF.
Am J Hum Genet 34 : 227-234. 1982
Human growth hormone DNA sequence and mRNA structure: possible alternative splicing.
DeNoto FM, Moore DD, Goodman HM.
Nucleic Acids Res 9(15):3719-30. 1981
47GH@, GH1, CSH1, CSH2
Genes for growth hormone, chorionic somatomammotropin and growth hormone-like gene on chromosome 17 in humans.
Owerbach D, Rutter WJ, Martial JA, Baxter JD, Shows TB.
Science 209 : 289-292. 1980