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Growth hormone hypersensitivity

Growth hormone hypersensitivity is characterized by enhanced growth due to an enhanced stimulation of the receptor by the hormone. One variation causing deletion or non transcription of exon 3 is made responsible for this abnormality.

Systematic

Disorders of the growth control system
ADAMTSL3
Combined pituitary hormone deficiency
Growth hormone deficiency
Growth hormone hypersensitivity
GHR
Growth hormone insensitivity

References:

1.

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2.

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3.

Schreiner F et al. (2007) Association of the growth hormone receptor d3-variant and catch-up growth of preterm infants with birth weight of less than 1500 grams.

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4.

Carrascosa A et al. (2008) Growth hormone (GH) dose, but not exon 3-deleted/full-length GH receptor polymorphism genotypes, influences growth response to two-year GH Therapy in Short Small-for-Gestational-Age Children.

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5.

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6.

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7.

Audí L et al. (2008) The exon 3-deleted/full-length growth hormone receptor polymorphism does not influence the effect of puberty or growth hormone therapy on glucose homeostasis in short non-growth hormone-deficient small-for-gestational-age children: results from a two-year controlled prospective study.

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8.

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9.

Amselem S et al. (1991) Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

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10.

Rubin CJ et al. (2010) Whole-genome resequencing reveals loci under selection during chicken domestication.

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11.

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12.

Arden KC et al. (1990) The receptors for prolactin and growth hormone are localized in the same region of human chromosome 5.

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13.

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14.

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15.

Laron Z et al. (1989) Serum GH binding protein activities identifies the heterozygous carriers for Laron type dwarfism.

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16.

Godowski PJ et al. (1989) Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

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17.

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18.

Spencer SA et al. (1988) Rabbit liver growth hormone receptor and serum binding protein. Purification, characterization, and sequence.

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19.

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20.

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21.

Woods KA et al. (1996) A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein.

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22.

Stallings-Mann ML et al. (1996) Alternative splicing of exon 3 of the human growth hormone receptor is the result of an unusual genetic polymorphism.

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23.

Menon RK et al. (1997) Identification and characterization of single strand DNA-binding protein that represses growth hormone receptor gene expression.

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24.

Kaji H et al. (1997) Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome.

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25.

Amit T et al. (1997) A membrane-fixed, truncated isoform of the human growth hormone receptor.

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26.

Iida K et al. (1998) Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain.

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27.

Kranzler JH et al. (1998) Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population.

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28.

Rosenbloom AL et al. (1998) Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.

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29.

Shen XY et al. (1998) Cirrhotic liver expresses low levels of the full-length and truncated growth hormone receptors.

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30.

Walker JL et al. (1998) 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.

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31.

Sanchez JE et al. (1998) Growth hormone receptor mutations in children with idiopathic short stature.

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32.

Wojcik J et al. (1998) Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.

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33.

Fang P et al. (2007) Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.

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34.

Horan M et al. (2006) Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.

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35.

Takada D et al. (2003) Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.

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36.

Ayling RM et al. (1997) A dominant-negative mutation of the growth hormone receptor causes familial short stature.

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37.

Iida K et al. (1999) Functional characterization of truncated growth hormone (GH) receptor-(1-277) causing partial GH insensitivity syndrome with high GH-binding protein.

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38.

Shuto Y et al. (1999) Reduced growth hormone receptor messenger ribonucleic acid in an aged man with chronic malnutrition and growth hormone resistance.

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39.

Amit T et al. (2000) Clinical review 112: Does serum growth hormone (GH) binding protein reflect human GH receptor function?

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40.

Pantel J et al. (2000) Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

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41.

Ballesteros M et al. (2000) Distribution and abundance of messenger ribonucleic acid for growth hormone receptor isoforms in human tissues.

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42.

Stofega MR et al. (2000) Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B.

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43.

Gastier JM et al. (2000) Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.

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44.

Leung KC et al. (2000) Insulin regulation of human hepatic growth hormone receptors: divergent effects on biosynthesis and surface translocation.

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45.

Fisker S et al. (2001) Gene expression of a truncated and the full-length growth hormone (GH) receptor in subcutaneous fat and skeletal muscle in GH-deficient adults: impact of GH treatment.

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46.

Metherell LA et al. (2001) Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity.

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47.

Jorge AA et al. (2002) Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene.

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48.

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49.

Pantel J et al. (2003) Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.

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50.

Berg MA et al. (1992) Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.

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51.

Fielder PJ et al. (1992) Expression of serum insulin-like growth factors, insulin-like growth factor-binding proteins, and the growth hormone-binding protein in heterozygote relatives of Ecuadorian growth hormone receptor deficient patients.

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52.

Milward A et al. (2004) Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.

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53.

Dos Santos C et al. (2004) A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone.

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54.

Tiulpakov A et al. (2005) A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling.

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55.

Greenhalgh CJ et al. (2005) SOCS2 negatively regulates growth hormone action in vitro and in vivo.

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56.

Jorge AA et al. (2006) Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

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57.

Binder G et al. (2006) The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children.

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58.

Carrascosa A et al. (2006) The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66 microg/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: results from a two-year controlled prospective study in 170 Spanish patients.

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59.

Audí L et al. (2006) Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short SGA.

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60.

Kenth G et al. (2007) Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density.

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61.

David A et al. (2007) An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.

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62.

Duquesnoy P et al. (1991) Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.

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63.

Jensen RB et al. (2007) The presence of the d3-growth hormone receptor polymorphism is negatively associated with fetal growth but positively associated with postnatal growth in healthy subjects.

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64.

OMIM.ORG article

Omim 600946 external link
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