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Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Protein MAX

The MAX gene encodes a protein that goes by the same name which is involved in transcription regulation. Mutations cause susceptibility to pheochromocytoma. Though inheritance is autosomal dominant penetrance and expressivity are variable.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pheochromocytoma
GDNF
KIF1B
MAX
OCLN
RET
SDHB
SDHD
TMEM127
VHL

References:

1.

Neel JV et al. (1998) Type II diabetes, essential hypertension, and obesity as "syndromes of impaired genetic homeostasis": the "thrifty genotype" hypothesis enters the 21st century.

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2.

None (1962) Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?

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3.

None (2003) Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

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4.

Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

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5.

Tosi R et al. (1978) Immunological dissection of human Ia molecules.

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6.

Duquesnoy RJ et al. (1979) Identification of an HLA-DR-associated system of B-cell alloantigens.

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7.

Todd JA et al. (1990) The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese.

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8.

Helmuth R et al. (1990) HLA-DQ alpha allele and genotype frequencies in various human populations, determined by using enzymatic amplification and oligonucleotide probes.

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9.

Briata P et al. (1989) Alternative splicing of HLA-DQB transcripts and secretion of HLA-DQ beta-chain proteins: allelic polymorphism in splicing and polyadenylylation sites.

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10.

Del Pozzo G et al. (1989) Mummy DNA fragment identified.

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11.

Kwok WW et al. (1989) Mutational analysis of the HLA-DQ3.2 insulin-dependent diabetes mellitus susceptibility gene.

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12.

Gyllensten UB et al. (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

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13.

Todd JA et al. () HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus.

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14.

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15.

Moriuchi J et al. (1985) Nucleotide sequence of an HLA-DQ alpha chain derived from a DRw9 cell line: genetic and evolutionary implications.

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16.

None () Molecular cloning of Ancient Egyptian mummy DNA.

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17.

Nadler LM et al. (1981) Monoclonal antibody identifies a new Ia-like (p29,34) polymorphic system linked to the HLA-D/DR region.

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18.

None (1981) Role of MHC gene products in immune regulation.

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19.

Corte G et al. (1981) Human Ia molecules carrying DC1 determinants differ in both alpha- and beta-subunits from Ia molecules carrying DR determinants.

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20.

Sorrentino R et al. (1983) Microfingerprinting analysis of human Ia molecules favours a three loci model.

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21.

Cohen D et al. (1984) Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes and multiple sclerosis.

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22.

Schenning L et al. (1984) Both alpha and beta chains of HLA-DC class II histocompatibility antigens display extensive polymorphism in their amino-terminal domains.

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23.

Bono MR et al. (1982) Direct evidence of homology between human DC-1 antigen and murine I-A molecules.

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24.

Hsu SH et al. (1981) Genetic control of major histocompatibility complex-linked immune responses to synthetic polypeptides in man.

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25.

Auffray C et al. (1982) cDNA clone for the heavy chain of the human B cell alloantigen DC1: strong sequence homology to the HLA-DR heavy chain.

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26.

Tanigaki N et al. (1980) Molecular identification of human Ia antigens coded for by a gene locus closely linked to HLA-DR locus.

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27.

Accolla RS et al. (1981) Distinct forms of both alpha and beta subunits are present in the human Ia molecular pool.

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28.

Shackelford DA et al. (1981) Human B-cell alloantigens DC1, MT1, and LB12 are identical to each other but distinct from the HLA-DR antigen.

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29.

Meyer CG et al. (1994) HLA-D alleles associated with generalized disease, localized disease, and putative immunity in Onchocerca volvulus infection.

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30.

Suzuki Y et al. (1996) Evidence for genetic regulation of susceptibility to toxoplasmic encephalitis in AIDS patients.

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31.

Nabozny GH et. al. (1996) HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis.

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32.

Bradley DS et. al. (1997) HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice. Implications in human rheumatoid arthritis.

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33.

Ferber KM et al. (1999) Predictive value of human leukocyte antigen class II typing for the development of islet autoantibodies and insulin-dependent diabetes postpartum in women with gestational diabetes.

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34.

Wen L et al. (2000) In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes.

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35.

Lambert NC et al. (2000) Cutting edge: persistent fetal microchimerism in T lymphocytes is associated with HLA-DQA1*0501: implications in autoimmunity.

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36.

Cucca F et al. (2001) A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins.

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37.

Kim CY et al. (2004) Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease.

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38.

Hovhannisyan Z et al. (2008) The role of HLA-DQ8 beta57 polymorphism in the anti-gluten T-cell response in coeliac disease.

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39.

Stanescu HC et al. (2011) Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

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40.

Cao H et al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

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41.

Shackleton S et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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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.

Garg A et al. (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

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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.

Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome.

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48.

Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

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49.

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

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50.

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

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51.

Davidson MB et al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities.

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52.

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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53.

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

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54.

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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55.

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

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56.

Permutt MA et al. (1992) Glucokinase and NIDDM. A candidate gene that paid off.

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57.

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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58.

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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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.

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

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61.

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

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62.

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

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63.

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

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64.

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

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65.

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

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66.

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

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67.

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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68.

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

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69.

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

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70.

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

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71.

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

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72.

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

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73.

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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74.

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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75.

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

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76.

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

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77.

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

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78.

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

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79.

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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80.

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

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81.

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

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82.

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

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83.

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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84.

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

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85.

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

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86.

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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87.

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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88.

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

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89.

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

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90.

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

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91.

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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92.

None (1998) Weighing in on diabetes risk.

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93.

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

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94.

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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95.

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

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96.

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

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97.

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

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98.

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

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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.

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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110.

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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111.

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

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112.

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

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113.

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

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114.

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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115.

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

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116.

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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117.

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

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118.

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

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119.

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

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120.

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

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121.

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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122.

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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123.

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

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124.

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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125.

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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126.

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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127.

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

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128.

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

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129.

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

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130.

Orphanet article

Orphanet ID 290420 external link
131.

NCBI article

NCBI 4149 external link
132.

OMIM.ORG article

Omim 154950 external link
133.

Wikipedia article

Wikipedia EN (MAX_(gene)) external link
Update: Aug. 14, 2020
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