Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Wachstumshormon-Releasinghormon-Rezeptor

Das GHRHR-Gen kodiert den Rezeptor für das Resleasinhormon des Wachstumshormon. Mutationen sind für den autosomal rezessiven isolierten Wachstumshormonmangel Typ 1B verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Isolierter rezessiver Wachstumshormonmangel Typ 1B
GH1
GHRH
GHRHR

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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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13.

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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14.

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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15.

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

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16.

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

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17.

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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18.

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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19.

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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20.

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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21.

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

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22.

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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23.

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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24.

Orphanet article

Orphanet ID 122097 [^]
25.

NCBI article

NCBI 2692 [^]
26.

OMIM.ORG article

Omim 139191 [^]
Update: 29. April 2019