Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Transmembranprotein 127

das MAX-Gen kodiert ein Transmembranprotein mit der Nummerierung 127, welches an der Funktion vakuolisierter Zellorganellen beteiligt ist. Mutationen können die Entwicklung von Phäochromozytomen begünstigen. Die Vererbung is autosomal dominant allerdings mit variabler Penetranz und Expressivität.

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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4.

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41.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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56.

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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.

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

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59.

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60.

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61.

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62.

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63.

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64.

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65.

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66.

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67.

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68.

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69.

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70.

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71.

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

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72.

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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73.

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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74.

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

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75.

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

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76.

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

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77.

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

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78.

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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79.

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

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80.

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

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81.

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

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82.

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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83.

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

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84.

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

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85.

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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86.

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87.

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88.

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

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89.

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

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90.

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91.

None (1998) Weighing in on diabetes risk.

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92.

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

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93.

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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94.

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

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95.

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

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96.

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

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97.

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

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98.

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

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99.

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

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100.

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

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101.

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

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102.

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

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103.

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

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104.

None (2004) Acquired and inherited lipodystrophies.

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105.

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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106.

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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107.

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

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108.

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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109.

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

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110.

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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111.

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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112.

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

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113.

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

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114.

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

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115.

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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116.

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

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117.

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

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118.

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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119.

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

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120.

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

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