Mannose-binding protein deficiency

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.

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

Degn SE et al. (2011) Disease-causing mutations in genes of the complement system.

None (2001) Complement. First of two parts.

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

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

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

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

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

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

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.

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

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

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.

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

Okada K et al. (1985) Gene organization of DC and DX subregions of the human major histocompatibility complex.

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

None () Molecular cloning of Ancient Egyptian mummy DNA.

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

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

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

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

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.

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.

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

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

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.

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

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

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.

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

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

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

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.

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.

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

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

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.

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

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

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

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

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

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.

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.

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

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

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.

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

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

Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency.

Buranawuti K et al. (2007) Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis.

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

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

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

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

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

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.

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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.

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

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

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.

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

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

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

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

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

None (1998) Weighing in on diabetes risk.

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

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

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

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

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

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

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

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

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

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

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

None (2004) Acquired and inherited lipodystrophies.

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.

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.

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

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.

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

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.

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

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

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

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.

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

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

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

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

Fairchild RS et al. (1979) Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient.

Super M et al. (1992) Distinct and overlapping functions of allelic forms of human mannose binding protein.

Lipscombe RJ et al. (1992) High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene.

Garred P et al. (1992) Gene frequency and partial protein characterization of an allelic variant of mannan binding protein associated with low serum concentrations.

Martínez-Frías ML et al. (1992) Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.

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

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

Schuffenecker I et al. (1991) The gene for mannose-binding protein maps to chromosome 10 and is a marker for multiple endocrine neoplasia type 2.

Sumiya M et al. (1991) Molecular basis of opsonic defect in immunodeficient children.

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

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

Kita K et al. (1990) Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria.

Ezekowitz RA et al. (1988) A human mannose-binding protein is an acute-phase reactant that shares sequence homology with other vertebrate lectins.

Sastry K et al. (1989) The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10.

Taylor ME et al. (1989) Structure and evolutionary origin of the gene encoding a human serum mannose-binding protein.

Orren A et al. (1987) Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases.

Mascarello JT et al. (1980) Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization.

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

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

Devilee P et al. (1994) Allelotype of head and neck paragangliomas: allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL.

Garred P et al. (1995) Increased frequency of homozygosity of abnormal mannan-binding-protein alleles in patients with suspected immunodeficiency.

Oostveen FG et al. (1995) A Chinese hamster mutant cell line with a defect in the integral membrane protein CII-3 of complex II of the mitochondrial electron transport chain.

Au HC et al. (1995) Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase.

Summerfield JA et al. (1995) Mannose binding protein gene mutations associated with unusual and severe infections in adults.

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

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

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

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

White RA et al. (1994) The murine mannose-binding protein genes (Mbl 1 and Mbl 2) localize to chromosomes 14 and 19.

Madsen HO et al. (1994) A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein.

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

Leckschat S et al. (1993) The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1.

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

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

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

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

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

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

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

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

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

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

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

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

Jack D et al. (1997) Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene.

Garred P et al. (1997) Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin.

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

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

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

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

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

Guo N et al. (1998) The human ortholog of rhesus mannose-binding protein-A gene is an expressed pseudogene that localizes to chromosome 10.

Sköldberg F et al. (1998) A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes.

Hirawake H et al. (1997) Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.

Annerén G et al. (1998) Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.

Madsen HO et al. (1998) Association of mannose-binding-lectin deficiency with severe atherosclerosis.

van Schothorst EM et al. (1998) Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction.

Hibberd ML et al. (1999) Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Meningococcal Research Group.

Garred P et al. (1999) Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis.

Gentile M et al. (1999) Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome.

Baysal BE et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

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

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

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

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

Davies J et al. (2000) Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis.

Turner MW et al. (2000) Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians.

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

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

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

Gimm O et al. (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Astuti D et al. (2001) Germline SDHD mutation in familial phaeochromocytoma.

Gabolde M et al. (2001) The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis.

Milunsky JM et al. (2001) Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

Badenhop RF et al. (2001) Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

Taschner PE et al. (2001) Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

Aguiar RC et al. (2001) Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas.

Astuti D et al. (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

Neumann HP et al. (2001) Case 13-2001: genetic testing in pheochromocytoma.

Masuoka J et al. (2001) Germline SDHD mutation in paraganglioma of the spinal cord.

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

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

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.

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

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

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

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

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

Neumann HP et al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma.

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

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.

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

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

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

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

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.

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

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

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

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

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

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

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

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.

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

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.

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

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

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

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

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

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

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

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.

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

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.

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

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

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

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.

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

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

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

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.

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

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.

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Soothill JF et al. (1976) Defective opsonization. A common immunity deficiency.

None (1991) Deficiency of mannan binding protein--a new complement deficiency syndrome.

Super M et al. (1989) Association of low levels of mannan-binding protein with a common defect of opsonisation.

Summerfield JA et al. (1997) Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series.

Bax WA et al. (1999) Association of familial deficiency of mannose-binding lectin and meningococcal disease.

OMIM.ORG article