KEGG   VARIANT: 2690v1
Entry
2690v1                      Variant                                
Name
GHR mutation
Gene
GHR  growth hormone receptor [KO:K05080]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600946
Disease
H02037  Laron syndrome
Reference
PMID:9360529
  Authors
Kaji H, Nose O, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K
  Title
Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.
  Journal
J Clin Endocrinol Metab 82:3705-9 (1997)
DOI:10.1210/jcem.82.11.4344
Reference
PMID:9661642
  Authors
Walker JL, Crock PA, Behncken SN, Rowlinson SW, Nicholson LM, Boulton TJ, Waters MJ
  Title
A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing  hormone analogue.
  Journal
J Clin Endocrinol Metab 83:2554-61 (1998)
DOI:10.1210/jcem.83.7.4954
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
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