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Growth hormone releasing hormone receptor

The GHRHR gene encodes a receptor for growth hormone-releasing hormone. Loss-of-function mutations cause autosomal recessive isolated growth hormone deficiency type 1B.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Isolated growth hormone deficiency type 1B
GH1
GHRH
GHRHR

References:

1.

Lin SC et al. (1993) Molecular basis of the little mouse phenotype and implications for cell type-specific growth.

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2.

Maheshwari HG et al. (1998) Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.

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3.

DeAlmeida VI et al. (1998) Identification of binding domains of the growth hormone-releasing hormone receptor by analysis of mutant and chimeric receptor proteins.

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4.

Petersenn S et al. (1998) Structure and regulation of the human growth hormone-releasing hormone receptor gene.

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5.

Netchine I et al. (1998) Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

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6.

Godfrey P et al. (1993) GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function.

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7.

Gaylinn BD et al. (1994) Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization.

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8.

Vamvakopoulos NC et al. (1994) Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene.

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9.

Gaylinn BD et al. (1993) Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone.

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10.

Oliveira JL et al. (2007) Congenital growth hormone (GH) deficiency and atherosclerosis: effects of GH replacement in GH-naive adults.

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11.

Pereira RM et al. (2007) Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition.

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12.

Wajnrajch MP et al. (2003) 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.

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13.

Maheshwari HG et al. (2003) The Impact of congenital, severe, untreated growth hormone (GH) deficiency on bone size and density in young adults: insights from genetic GH-releasing hormone receptor deficiency.

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14.

Salvatori R et al. (2002) Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site.

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15.

Roelfsema F et al. (2001) Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses.

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16.

Salvatori R et al. (2001) Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

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17.

Wajnrajch MP et al. (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

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18.

Menezes Oliveira JL et al. (2006) Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation.

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19.

Gondo RG et al. (2001) Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor.

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20.

Salvatori R et al. (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

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21.

Osorio MG et al. (2002) Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

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22.

Aguiar-Oliveira MH et al. (1999) Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life.

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23.

Halmos G et al. (2002) Expression of growth hormone-releasing hormone and its receptor splice variants in human prostate cancer.

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24.

Orphanet article

Orphanet ID 122097 external link
25.

NCBI article

NCBI 2692 external link
26.

OMIM.ORG article

Omim 139191 external link
27.

Wikipedia article

Wikipedia EN (Growth-hormone-releasing_hormone_receptor) external link
Update: Aug. 14, 2020
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