Wachstumshormon-Unempfindlichkeit

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None () Functional inactivation of genes by dominant negative mutations.

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Liu JP et al. (1993) Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r).

Werner H et al. (1996) Wild-type and mutant p53 differentially regulate transcription of the insulin-like growth factor I receptor gene.

Dey BR et al. (1998) Cloning of human p55 gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulin-like growth factor-I receptor.

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Sjögren K et al. (1999) Liver-derived insulin-like growth factor I (IGF-I) is the principal source of IGF-I in blood but is not required for postnatal body growth in mice.

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Vestergaard P et al. (1999) Effect of sex hormone replacement on the insulin-like growth factor system and bone mineral: a cross-sectional and longitudinal study in 595 perimenopausal women participating in the Danish Osteoporosis Prevention Study.

Semsarian C et al. (1999) Skeletal muscle hypertrophy is mediated by a Ca2+-dependent calcineurin signalling pathway.

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Playford MP et al. (2000) Insulin-like growth factor 1 regulates the location, stability, and transcriptional activity of beta-catenin.

Harman SM et al. (2000) Serum levels of insulin-like growth factor I (IGF-I), IGF-II, IGF-binding protein-3, and prostate-specific antigen as predictors of clinical prostate cancer.

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Hellstrom A et al. (2001) Low IGF-I suppresses VEGF-survival signaling in retinal endothelial cells: direct correlation with clinical retinopathy of prematurity.

Smith PJ et al. (2002) An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor.

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Vaessen N et al. (2002) Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight.

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Humbert S et al. (2002) The IGF-1/Akt pathway is neuroprotective in Huntington's disease and involves Huntingtin phosphorylation by Akt.

Simó R et al. (2002) Free insulin growth factor-I and vascular endothelial growth factor in the vitreous fluid of patients with proliferative diabetic retinopathy.

Carro E et al. (2002) Serum insulin-like growth factor I regulates brain amyloid-beta levels.

Johnston LB et al. (2003) Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations.

None (2003) Insulin-like growth factors and the basis of growth.

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Sutter NB et al. (2007) A single IGF1 allele is a major determinant of small size in dogs.

Kim S et al. (2007) Insulin-like growth factor-1 regulates platelet activation through PI3-Kalpha isoform.

None (2007) Insulin-like growth factor-1 potentiates platelet activation via the IRS/PI3Kalpha pathway.

Johansson M et al. (2007) Implications for prostate cancer of insulin-like growth factor-I (IGF-I) genetic variation and circulating IGF-I levels.

Kim SW et al. (1991) Structure and function of a human insulin-like growth factor-I gene promoter.

Mullis PE et al. (1991) Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients.

Schoenle EJ et al. (1991) Recombinant human insulin-like growth factor I (rhIGF I) reduces hyperglycaemia in patients with extreme insulin resistance.

Justice MJ et al. (1990) A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross.

Taylor BA et al. (1991) Localization of the gene encoding insulin-like growth factor I on mouse chromosome 10.

Pouladi MA et al. (2010) Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression.

Mayack SR et al. (2010) Systemic signals regulate ageing and rejuvenation of blood stem cell niches.

Takano K et al. (2010) Nebulin and N-WASP cooperate to cause IGF-1-induced sarcomeric actin filament formation.

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Le Bouc Y et al. (1986) Complete characterization of the human IGF-I nucleotide sequence isolated from a newly constructed adult liver cDNA library.

Rotwein P et al. (1986) Organization and sequence of the human insulin-like growth factor I gene. Alternative RNA processing produces two insulin-like growth factor I precursor peptides.

Höppener JW et al. (1985) The human gene encoding insulin-like growth factor I is located on chromosome 12.

None (1986) Two insulin-like growth factor I messenger RNAs are expressed in human liver.

Mathews LS et al. (1986) Regulation of insulin-like growth factor I gene expression by growth hormone.

Morton CC et al. (1986) Human genes for insulin-like growth factors I and II and epidermal growth factor are located on 12q22--q24.1, 11p15, and 4q25--q27, respectively.

Daughaday WH et al. (1972) Somatomedin: proposed designation for sulphation factor.

Ullrich A et al. (1984) Isolation of the human insulin-like growth factor I gene using a single synthetic DNA probe.

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Jansen M et al. () Sequence of cDNA encoding human insulin-like growth factor I precursor.

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Tricoli JV et al. () Localization of insulin-like growth factor genes to human chromosomes 11 and 12.

Li CH et al. (1983) Total synthesis of insulin-like growth factor I (somatomedin C).

Svoboda ME et al. (1980) Purification of somatomedin-C from human plasma: chemical and biological properties, partial sequence analysis, and relationship to other somatomedins.

Copeland KC et al. (1980) Induction of immunoreactive somatomedin C human serum by growth hormone: dose-response relationships and effect on chromatographic profiles.

Van Wyk JJ et al. (1980) Evidence from radioligand assays that somatomedin-C and insulin-like growth factor-I are similar to each other and different from other somatomedins.

Powell-Braxton L et al. (1993) IGF-I is required for normal embryonic growth in mice.

Baker J et al. (1993) Role of insulin-like growth factors in embryonic and postnatal growth.

Woods KA et al. (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.

Lembo G et al. (1996) Elevated blood pressure and enhanced myocardial contractility in mice with severe IGF-1 deficiency.

Zhu J et al. (1997) Analysis of a peptide hormone-receptor interaction in the yeast two-hybrid system.

Bianda T et al. (1998) Effects of short-term insulin-like growth factor-I (IGF-I) or growth hormone (GH) treatment on bone metabolism and on production of 1,25-dihydroxycholecalciferol in GH-deficient adults.

None (1998) Insulin-like growth factor-I and new opportunities for cancer prevention.

Hankinson SE et al. (1998) Circulating concentrations of insulin-like growth factor-I and risk of breast cancer.

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.

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

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.

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

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

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.

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

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.

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

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

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.

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

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.

Marzullo P et al. (2002) Leptin concentrations in GH deficiency: the effect of GH insensitivity.

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.

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

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.

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.

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

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

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

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.

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.

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.

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.

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

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.

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

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.

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.

Asa SL et al. (2007) A growth hormone receptor mutation impairs growth hormone autofeedback signaling in pituitary tumors.

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.

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

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

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.

Leung DW et al. () Growth hormone receptor and serum binding protein: purification, cloning and expression.

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

Edery M et al. (1993) Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.

Berg MA et al. (1993) Diverse growth hormone receptor gene mutations in Laron syndrome.

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.

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.

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

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

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

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.

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

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.

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

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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Laron Z et al. () Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?