KEGG   NETWORK: N00908
Entry
N00908                      Network                                

Name
Mutation-inactivated GH to GH-Jak-STAT signaling pathway
Definition
GH* // GHR // JAK2 -> STAT5
  Expanded
2688v1 // 2690 // 3717 -> (6776,6777)
Class
nt06324 GHRH-GH-IGF signaling
Type
Variant
Disease
H02039  Kowarski syndrome
H02035  Isolated growth hormone deficiency
H00254  Growth hormone deficiency
Gene
2688  GH1; growth hormone 1
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
2688v1 (GH*)  GH1 mutation
Reference
  Authors
Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE
  Title
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
  Journal
J Clin Endocrinol Metab 90:2493-9 (2005)
DOI:10.1210/jc.2004-1838
Reference
PMID:9276733
  Authors
Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K
  Title
Biologically inactive growth hormone caused by an amino acid substitution.
  Journal
J Clin Invest 100:1159-65 (1997)
DOI:10.1172/JCI119627
Reference
  Authors
Mullis PE
  Title
Genetics of isolated growth hormone deficiency.
  Journal
J Clin Res Pediatr Endocrinol 2:52-62 (2010)
DOI:10.4274/jcrpe.v2i2.52
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