KEGG   NETWORK: N00909
Entry
N00909                      Network                                

Name
Mutation-inactivated GHR to GH-Jak-STAT signaling pathway
Definition
GH // GHR* // JAK2 -> STAT5
  Expanded
(2688,2689) // 2690v1 // 3717 -> (6776,6777)
Class
nt06324 GHRH-GH-IGF signaling
Type
Variant
Disease
H02037  Laron syndrome
Gene
2688  GH1; growth hormone 1
2689  GH2; growth hormone 2
2690  GHR; growth hormone receptor
3717  JAK2; Janus kinase 2
6776  STAT5A; signal transducer and activator of transcription 5A
6777  STAT5B; signal transducer and activator of transcription 5B
Variant
2690v1 (GHR*)  GHR mutation
Reference
  Authors
Pilecka I, Whatmore A, Hooft van Huijsduijnen R, Destenaves B, Clayton P
  Title
Growth hormone signalling: sprouting links between pathways, human genetics and therapeutic options.
  Journal
Trends Endocrinol Metab 18:12-8 (2007)
DOI:10.1016/j.tem.2006.11.004
Reference
  Authors
Bartke A, Quainoo N
  Title
Impact of Growth Hormone-Related Mutations on Mammalian Aging.
  Journal
Front Genet 9:586 (2018)
DOI:10.3389/fgene.2018.00586
Reference
PMID:8853444
  Authors
Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M
  Title
Molecular basis of inherited growth hormone resistance in childhood.
  Journal
Baillieres Clin Endocrinol Metab 10:353-69 (1996)
DOI:10.1016/s0950-351x(96)80485-x
Reference
  Authors
Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, Wei M, Madia F, Cheng CW, Hwang D, Martin-Montalvo A, Saavedra J, Ingles S, de Cabo R, Cohen P, Longo VD
  Title
Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans.
  Journal
Sci Transl Med 3:70ra13 (2011)
DOI:10.1126/scitranslmed.3001845
LinkDB

DBGET integrated database retrieval system