Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

mannose-binding protein C

Mannose-binding protein is encoded by the MBL2 gene. Mutations cause autosomal recessive deficiency that is associated with gestational diabetes and chronic inflammatory diseases.

Genetests:

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

Related Diseases:

Mannose-binding protein deficiency
MBL2

References:

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45.

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51.

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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.

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58.

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59.

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60.

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61.

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62.

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

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63.

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64.

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65.

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66.

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69.

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70.

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73.

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74.

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

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75.

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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76.

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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77.

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

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78.

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

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79.

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

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80.

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

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81.

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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82.

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

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83.

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

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84.

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

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85.

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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86.

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

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87.

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

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88.

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89.

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90.

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91.

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

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92.

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

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93.

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94.

None (1998) Weighing in on diabetes risk.

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95.

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

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96.

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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97.

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

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98.

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

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99.

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

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100.

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

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101.

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

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102.

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

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103.

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

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104.

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

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105.

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

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106.

None (2004) Acquired and inherited lipodystrophies.

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107.

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108.

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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109.

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

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110.

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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111.

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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112.

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113.

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114.

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117.

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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.

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120.

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121.

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122.

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123.

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124.

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125.

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126.

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132.

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134.

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138.

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139.

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140.

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141.

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142.

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143.

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144.

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145.

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146.

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147.

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148.

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149.

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150.

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151.

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152.

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153.

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154.

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155.

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156.

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157.

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

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158.

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159.

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160.

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161.

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162.

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163.

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164.

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165.

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166.

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167.

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168.

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169.

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170.

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171.

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172.

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173.

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174.

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175.

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176.

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177.

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178.

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179.

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180.

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181.

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182.

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

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183.

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184.

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185.

None (2000) Oxygen sensing by the carotid body chemoreceptors.

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186.

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187.

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188.

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189.

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190.

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191.

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192.

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193.

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194.

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195.

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196.

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197.

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200.

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202.

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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203.

Gimenez-Roqueplo AP et al. (2001) The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

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204.

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

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Baysal BE et al. (2002) Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

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207.

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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208.

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209.

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210.

Kytölä S et al. (2002) Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.

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211.

Husby S et al. (2002) Heritability estimates for the constitutional levels of the collectins mannan-binding lectin and lung surfactant protein D. A study of unselected like-sexed mono- and dizygotic twins at the age of 6-9 years.

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Cascon A et al. (2002) Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

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213.

Young AL et al. (2002) Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.

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214.

Gimenez-Roqueplo AP et al. (2002) Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

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215.

Perren A et al. (2002) Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.

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216.

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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217.

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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218.

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

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219.

Astrom K et al. (2003) Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.

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220.

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

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221.

Søborg C et al. (2003) Mannose-binding lectin polymorphisms in clinical tuberculosis.

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222.

Lima J et al. (2003) Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia.

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223.

Vanharanta S et al. (2004) Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

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224.

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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225.

Maier-Woelfle M et al. (2004) A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

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226.

Leube B et al. (2004) SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.

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227.

Hensen EF et al. (2004) Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

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228.

Riemann K et al. (2004) Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

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229.

Øhlenschlaeger T et al. (2004) Mannose-binding lectin variant alleles and the risk of arterial thrombosis in systemic lupus erythematosus.

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230.

Yarden J et al. (2004) Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype.

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231.

Boccon-Gibod L et al. () Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome.

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232.

Megia A et al. (2004) Mannose-binding lectin gene polymorphisms are associated with gestational diabetes mellitus.

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233.

McWhinney SR et al. (2004) Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma.

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234.

Mitchell J et al. (2004) Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

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235.

Stuart LM et al. (2005) Mannose-binding lectin-deficient mice display defective apoptotic cell clearance but no autoimmune phenotype.

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236.

Pollard PJ et al. (2005) Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

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237.

Thio CL et al. (2005) Mannose binding lectin genotypes influence recovery from hepatitis B virus infection.

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238.

Cascón A et al. (2006) Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

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239.

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

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240.

Bayley JP et al. (2006) Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

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

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242.

Brouwers FM et al. (2006) High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

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243.

Bodamer OA et al. (2006) Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth.

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244.

Galán-Gómez E et al. () Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome.

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245.

van Nederveen FH et al. (2007) Somatic SDHB mutation in an extraadrenal pheochromocytoma.

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246.

Pasini B et al. (2008) Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

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247.

McWhinney SR et al. (2007) Familial gastrointestinal stromal tumors and germ-line mutations.

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248.

Lima J et al. (2007) High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.

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249.

Cascón A et al. (2008) Molecular characterisation of a common SDHB deletion in paraganglioma patients.

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250.

Teyra J et al. (2008) SCOWLP classification: structural comparison and analysis of protein binding regions.

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251.

Pigny P et al. (2008) Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

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252.

Dorfman R et al. (2008) Complex two-gene modulation of lung disease severity in children with cystic fibrosis.

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253.

Chappell L et al. (2008) A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

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254.

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

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255.

Aftab S et al. (2008) Identification and characterization of novel human tissue-specific RFX transcription factors.

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256.

Ni Y et al. (2008) Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

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257.

Solis DC et al. (2009) Penetrance and clinical consequences of a gross SDHB deletion in a large family.

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258.

Martinovici D et al. () Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.

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259.

Smith SB et al. (2010) Rfx6 directs islet formation and insulin production in mice and humans.

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260.

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

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261.

Schimke RN et al. (2010) Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

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262.

Dean MM et al. (2011) Mannose-binding lectin deficiency influences innate and antigen-presenting functions of blood myeloid dendritic cells.

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263.

Janeway KA et al. (2011) Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

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264.

Hensen EF et al. (2012) High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

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265.

None (2011) Succinate dehydrogenase gene variants and their role in Cowden syndrome.

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266.

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

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267.

Alston CL et al. (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

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268.

Jackson CB et al. (2014) Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

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269.

Huang Q et al. (2014) A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding.

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270.

Alston CL et al. (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

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271.

NCBI article

NCBI 4153 external link
272.

OMIM.ORG article

Omim 154545 external link
273.

Orphanet article

Orphanet ID 457472 external link
274.

Wikipedia article

Wikipedia EN (Mannan-binding_lectin) external link
Update: Aug. 14, 2020
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