KEGG   VARIANT: 2692v1
Entry
2692v1                      Variant                                
Name
GHRHR mutation
Type
Loss of function
Gene
GHRHR  growth hormone releasing hormone receptor [KO:K04584]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 139191
Network
nt06324  GHRH-GH-IGF signaling
Disease
H02035  Isolated growth hormone deficiency
Reference
  Authors
Wajnrajch MP, Gertner JM, Sokoloff AS, Ten I, Harbison MD, Netchine I, Maheshwari HG, Goldstein DB, Amselem S, Baumann G, Leibel RL
  Title
Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor.
  Journal
Am J Med Genet A 120A:77-83 (2003)
DOI:10.1002/ajmg.a.10209
Reference
  Authors
Salvatori R, Fan X, Phillips JA 3rd, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA
  Title
Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.
  Journal
J Clin Endocrinol Metab 86:273-9 (2001)
DOI:10.1210/jcem.86.1.7156
Reference
  Authors
Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savas Erdeve S, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Siklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M
  Title
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
  Journal
Hum Mutat 40:2033-2043 (2019)
DOI:10.1002/humu.23847
Reference
  Authors
Aguiar-Oliveira MH, Bartke A
  Title
Growth Hormone Deficiency: Health and Longevity.
  Journal
Endocr Rev 40:575-601 (2019)
DOI:10.1210/er.2018-00216
Reference
  Authors
Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M
  Title
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
  Journal
J Clin Endocrinol Metab 94:3939-47 (2009)
DOI:10.1210/jc.2009-0833
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