Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Gliazellen neurotrophischer Faktor

Das GDNF-Gen kodiert einen von Glia-Zellen gebildeten neutrotrophischen Faktor der zusammen mit dem Produkt des RET-Gens die Bildung und Apoptose von Nervenzellen steuert. Mutationen führen zu verschiedenen autosomal dominanten Erkrankungen, dem zentralen Hypoventilationssyndrom, der Hirschsprung-Erkrankung und dem Phäochromozytom.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Phäochromozytom
GDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
VHL

Referenzen:

1.

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2.

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3.

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33.

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35.

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36.

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38.

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39.

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40.

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41.

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42.

Speckman RA et. al. (2000) Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

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43.

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44.

Schmidt HH et. al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

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45.

Vigouroux C et. al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

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46.

Caux F et. al. (2003) A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

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47.

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48.

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49.

Köbberling J et. al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes.

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50.

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51.

Stoffel M et. al. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

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52.

Hattersley AT et. al. (1992) Linkage of type 2 diabetes to the glucokinase gene.

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53.

Velho G et. al. (1992) Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young.

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54.

Katagiri H et. al. (1992) Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.

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55.

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56.

Stoffel M et. al. (1992) Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

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57.

Froguel P et. al. (1992) Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus.

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58.

Wagner AJ et. al. (1992) Expression, regulation, and chromosomal localization of the Max gene.

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59.

Vionnet N et. al. (1992) Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.

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60.

Gilladoga AD et. al. (1992) Mapping of MAX to human chromosome 14 and mouse chromosome 12 by in situ hybridization.

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61.

Matsutani A et. al. (1992) A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p.

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62.

Mishra SK et. al. (1992) A 2-cM genetic linkage map of human chromosome 7p that includes 47 loci.

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63.

Prendergast GC et. al. (1991) Association of Myn, the murine homolog of max, with c-Myc stimulates methylation-sensitive DNA binding and ras cotransformation.

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64.

Tanizawa Y et. al. (1991) Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.

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65.

Blackwood EM et. al. (1991) Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc.

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66.

None (1990) Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes.

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67.

Reardon W et. al. (1990) Partial lipodystrophy syndromes--a further male case.

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68.

None (1988) Banting lecture 1988. Role of insulin resistance in human disease.

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69.

Burn J et. al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

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70.

Köbberling J et. al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state.

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71.

Dunnigan MG et. al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome.

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72.

Greene ML et. al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia.

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73.

Wettke-Schäfer R et. al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males.

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74.

Robbins DC et. al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese?

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75.

Zervos AS et. al. (1995) Mxi2, a mitogen-activated protein kinase that recognizes and phosphorylates Max protein.

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76.

Schindelhauer D et. al. (1995) The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1.

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77.

Grupe A et. al. (1995) Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis.

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78.

Rowe RE et. al. (1995) Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7.

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79.

Bali D et. al. (1995) Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.

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80.

Hopewell R et. al. (1995) The nerve growth factor-responsive PC12 cell line does not express the Myc dimerization partner Max.

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81.

Tomac A et. al. (1995) Protection and repair of the nigrostriatal dopaminergic system by GDNF in vivo.

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82.

Beck KD et. al. (1995) Mesencephalic dopaminergic neurons protected by GDNF from axotomy-induced degeneration in the adult brain.

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83.

Oppenheim RW et. al. (1995) Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF.

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84.

Froguel P et. al. (1993) Non-sense mutation of glucokinase gene.

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85.

Chiu KC et. al. (1993) Non-sense mutation of glucokinase gene.

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86.

Byrne MM et. al. (1994) Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations.

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87.

Matschinsky F et. al. (1993) Glucokinase as pancreatic beta cell glucose sensor and diabetes gene.

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88.

Schaar DG et. al. (1993) Regional and cell-specific expression of GDNF in rat brain.

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89.

Sun F et. al. (1993) Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.

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90.

None (1993) Glucokinase and candidate genes for type 2 (non-insulin-dependent) diabetes mellitus.

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91.

Froguel P et. al. (1993) Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.

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92.

Lin LF et. al. (1993) GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons.

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93.

Stoffel M et. al. (1993) Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

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94.

Bermingham N et. al. (1995) Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5.

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95.

Stone LM et. al. (1996) A variation at position -30 of the beta-cell glucokinase gene promoter is associated with reduced beta-cell function in middle-aged Japanese-American men.

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96.

Gash DM et. al. (1996) Functional recovery in parkinsonian monkeys treated with GDNF.

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97.

Durbec P et. al. (1996) GDNF signalling through the Ret receptor tyrosine kinase.

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98.

Sánchez MP et. al. (1996) Renal agenesis and the absence of enteric neurons in mice lacking GDNF.

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99.

Pichel JG et. al. (1996) Defects in enteric innervation and kidney development in mice lacking GDNF.

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100.

Moore MW et. al. (1996) Renal and neuronal abnormalities in mice lacking GDNF.

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101.

Treanor JJ et. al. (1996) Characterization of a multicomponent receptor for GDNF.

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102.

Heimberg H et. al. (1996) The glucose sensor protein glucokinase is expressed in glucagon-producing alpha-cells.

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103.

Grandori C et. al. (1996) Myc-Max heterodimers activate a DEAD box gene and interact with multiple E box-related sites in vivo.

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104.

Velho G et. al. (1996) Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

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105.

Angrist M et. al. (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

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106.

Salomon R et. al. (1996) Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

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107.

Aizawa T et. al. (1996) Analysis of the pancreatic beta cell in the mouse with targeted disruption of the pancreatic beta cell-specific glucokinase gene.

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108.

Ivanchuk SM et. al. (1996) De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

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109.

Velho G et. al. (1997) Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

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110.

Jackson SN et. al. (1997) Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy.

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111.

Woodward ER et. al. (1997) Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

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112.

Pichel JG et. al. (1996) GDNF is required for kidney development and enteric innervation.

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113.

Hofstra RM et. al. () Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.

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114.

Glaser B et. al. (1998) Familial hyperinsulinism caused by an activating glucokinase mutation.

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115.

Amiel J et. al. (1998) Mutations of the RET-GDNF signaling pathway in Ondine's curse.

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116.

Nguyen QT et. al. (1998) Hyperinnervation of neuromuscular junctions caused by GDNF overexpression in muscle.

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117.

Peters JM et. al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22.

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118.

Dunger DB et. al. (1998) Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.

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119.

None (1998) Weighing in on diabetes risk.

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120.

Hattersley AT et. al. (1998) Mutations in the glucokinase gene of the fetus result in reduced birth weight.

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121.

Jackson SN et. al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q.

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122.

Garg A et. al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety).

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123.

Anderson JL et. al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.

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124.

Ramer MS et. al. (2000) Functional regeneration of sensory axons into the adult spinal cord.

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125.

Meng X et. al. (2000) Regulation of cell fate decision of undifferentiated spermatogonia by GDNF.

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126.

Messer CJ et. al. (2000) Role for GDNF in biochemical and behavioral adaptations to drugs of abuse.

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127.

None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety).

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128.

Martucciello G et. al. (2000) Pathogenesis of Hirschsprung's disease.

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129.

Boucher TJ et. al. (2000) Potent analgesic effects of GDNF in neuropathic pain states.

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130.

Kordower JH et. al. (2000) Neurodegeneration prevented by lentiviral vector delivery of GDNF in primate models of Parkinson's disease.

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131.

None (2001) Premature atherosclerosis associated with monogenic insulin resistance.

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132.

Njølstad PR et. al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency.

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133.

Bahuau M et. al. (2001) GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype.

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134.

Wang CY et. al. (2001) Ca(2+) binding protein frequenin mediates GDNF-induced potentiation of Ca(2+) channels and transmitter release.

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135.

Shen L et. al. (2002) Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice.

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136.

Eketjäll S et. al. (2002) Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease.

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137.

Christesen HB et. al. (2002) The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

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138.

Japón MA et. al. (2002) Glial-derived neurotropic factor and RET gene expression in normal human anterior pituitary cell types and in pituitary tumors.

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139.

Borghini S et. al. (2002) Hirschsprung associated GDNF mutations do not prevent RET activation.

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140.

Datta SR et. al. (2002) Survival factor-mediated BAD phosphorylation raises the mitochondrial threshold for apoptosis.

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141.

Nair SK et. al. (2003) X-ray structures of Myc-Max and Mad-Max recognizing DNA. Molecular bases of regulation by proto-oncogenic transcription factors.

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142.

Amiel J et. al. (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

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143.

Gill SS et. al. (2003) Direct brain infusion of glial cell line-derived neurotrophic factor in Parkinson disease.

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144.

Grimsby J et. al. (2003) Allosteric activators of glucokinase: potential role in diabetes therapy.

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145.

Iwashita T et. al. (2003) Hirschsprung disease is linked to defects in neural crest stem cell function.

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146.

Danial NN et. al. (2003) BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis.

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147.

Gloyn AL et. al. (2003) Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

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148.

Lawrence JM et. al. (2004) Transplantation of Schwann cell line clones secreting GDNF or BDNF into the retinas of dystrophic Royal College of Surgeons rats.

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149.

None (2004) Acquired and inherited lipodystrophies.

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150.

Inoue M et. al. (2004) A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.

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151.

März W et. al. (2004) G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus.

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152.

Cuesta-Muñoz AL et. al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

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153.

Johansen A et. al. (2005) Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.

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154.

Dahia PL et. al. (2005) Novel pheochromocytoma susceptibility loci identified by integrative genomics.

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155.

Anitha M et. al. (2006) GDNF rescues hyperglycemia-induced diabetic enteric neuropathy through activation of the PI3K/Akt pathway.

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156.

Vits L et. al. (2006) Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

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157.

Terauchi Y et. al. (2007) Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance.

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158.

Pinterova D et. al. (2007) Six novel mutations in the GCK gene in MODY patients.

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159.

Spuler S et. al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy.

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160.

Vantyghem MC et. al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.

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161.

Carnicella S et. al. (2008) GDNF is a fast-acting potent inhibitor of alcohol consumption and relapse.

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162.

Araújo-Vilar D et. al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.

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163.

Qin Y et. al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

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164.

Kassem S et. al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation.

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165.

None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.

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166.

Shen Y et. al. (2011) Insight into the biochemical characteristics of a novel glucokinase gene mutation.

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167.

Comino-Méndez I et. al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

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168.

Hofmeister-Brix A et. al. (2013) Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.

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