Mitchell-Riley syndrome is an autosomal recessive disorder caused by mutations of the RFX6 gene. Besides a neonatal diabetes, the syndrome is characterized by pancreatic and gallbladder aplasia or hypoplasia.
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. |
2. |
None (1962) Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? |
3. |
None (2003) Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. |
4. |
Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. |
5. |
Tosi R et al. (1978) Immunological dissection of human Ia molecules. |
6. |
Duquesnoy RJ et al. (1979) Identification of an HLA-DR-associated system of B-cell alloantigens. |
7. |
Todd JA et al. (1990) The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese. |
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. |
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. |
10. |
Del Pozzo G et al. (1989) Mummy DNA fragment identified. |
11. |
Kwok WW et al. (1989) Mutational analysis of the HLA-DQ3.2 insulin-dependent diabetes mellitus susceptibility gene. |
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. |
13. |
Todd JA et al. () HLA-DQ beta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. |
14. |
Okada K et al. (1985) Gene organization of DC and DX subregions of the human major histocompatibility complex. |
15. |
Moriuchi J et al. (1985) Nucleotide sequence of an HLA-DQ alpha chain derived from a DRw9 cell line: genetic and evolutionary implications. |
16. |
None () Molecular cloning of Ancient Egyptian mummy DNA. |
17. |
Nadler LM et al. (1981) Monoclonal antibody identifies a new Ia-like (p29,34) polymorphic system linked to the HLA-D/DR region. |
18. |
None (1981) Role of MHC gene products in immune regulation. |
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. |
20. |
Sorrentino R et al. (1983) Microfingerprinting analysis of human Ia molecules favours a three loci model. |
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. |
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. |
23. |
Bono MR et al. (1982) Direct evidence of homology between human DC-1 antigen and murine I-A molecules. |
24. |
Hsu SH et al. (1981) Genetic control of major histocompatibility complex-linked immune responses to synthetic polypeptides in man. |
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. |
26. |
Tanigaki N et al. (1980) Molecular identification of human Ia antigens coded for by a gene locus closely linked to HLA-DR locus. |
27. |
Accolla RS et al. (1981) Distinct forms of both alpha and beta subunits are present in the human Ia molecular pool. |
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. |
29. |
Meyer CG et al. (1994) HLA-D alleles associated with generalized disease, localized disease, and putative immunity in Onchocerca volvulus infection. |
30. |
Suzuki Y et al. (1996) Evidence for genetic regulation of susceptibility to toxoplasmic encephalitis in AIDS patients. |
31. |
Nabozny GH et. al. (1996) HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis. |
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. |
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. |
35. |
Lambert NC et al. (2000) Cutting edge: persistent fetal microchimerism in T lymphocytes is associated with HLA-DQA1*0501: implications in autoimmunity. |
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. |
37. |
Kim CY et al. (2004) Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease. |
38. |
Hovhannisyan Z et al. (2008) The role of HLA-DQ8 beta57 polymorphism in the anti-gluten T-cell response in coeliac disease. |
39. |
Stanescu HC et al. (2011) Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. |
40. |
Cao H et al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. |
41. |
Shackleton S et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. |
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. |
44. |
Schmidt HH et al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. |
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. |
47. |
Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome. |
48. |
Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). |
49. |
Njølstad PR et al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency. |
50. |
Köbberling J et al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. |
51. |
Davidson MB et al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. |
52. |
Stoffel M et al. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. |
53. |
Hattersley AT et al. (1992) Linkage of type 2 diabetes to the glucokinase gene. |
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. |
55. |
Katagiri H et al. (1992) Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. |
56. |
Permutt MA et al. (1992) Glucokinase and NIDDM. A candidate gene that paid off. |
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. |
58. |
Froguel P et al. (1992) Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. |
59. |
Vionnet N et al. (1992) Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. |
60. |
Matsutani A et al. (1992) A polymorphic (CA)n repeat element maps the human glucokinase gene (GCK) to chromosome 7p. |
61. |
Mishra SK et al. (1992) A 2-cM genetic linkage map of human chromosome 7p that includes 47 loci. |
62. |
Tanizawa Y et al. (1991) Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs. |
63. |
None (1990) Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes. |
64. |
Reardon W et al. (1990) Partial lipodystrophy syndromes--a further male case. |
65. |
None (1988) Banting lecture 1988. Role of insulin resistance in human disease. |
66. |
Burn J et al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). |
67. |
Köbberling J et al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. |
68. |
Dunnigan MG et al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome. |
69. |
Greene ML et al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. |
70. |
Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males. |
71. |
Robbins DC et al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese? |
72. |
Grupe A et al. (1995) Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. |
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. |
74. |
Bali D et al. (1995) Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene. |
75. |
Froguel P et al. (1993) Non-sense mutation of glucokinase gene. |
76. |
Chiu KC et al. (1993) Non-sense mutation of glucokinase gene. |
77. |
Byrne MM et al. (1994) Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. |
78. |
Matschinsky F et al. (1993) Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. |
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. |
80. |
None (1993) Glucokinase and candidate genes for type 2 (non-insulin-dependent) diabetes mellitus. |
81. |
Froguel P et al. (1993) Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. |
82. |
Stoffel M et al. (1993) Identification of glucokinase mutations in subjects with gestational diabetes mellitus. |
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. |
84. |
Heimberg H et al. (1996) The glucose sensor protein glucokinase is expressed in glucagon-producing alpha-cells. |
85. |
Velho G et al. (1996) Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects. |
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. |
87. |
Velho G et al. (1997) Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. |
88. |
Jackson SN et al. (1997) Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. |
89. |
Glaser B et al. (1998) Familial hyperinsulinism caused by an activating glucokinase mutation. |
90. |
Peters JM et al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. |
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. |
92. |
None (1998) Weighing in on diabetes risk. |
93. |
Hattersley AT et al. (1998) Mutations in the glucokinase gene of the fetus result in reduced birth weight. |
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. |
95. |
Garg A et al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). |
96. |
Anderson JL et al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. |
97. |
None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). |
98. |
None (2001) Premature atherosclerosis associated with monogenic insulin resistance. |
99. |
Christesen HB et al. (2002) The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. |
100. |
Datta SR et al. (2002) Survival factor-mediated BAD phosphorylation raises the mitochondrial threshold for apoptosis. |
101. |
Grimsby J et al. (2003) Allosteric activators of glucokinase: potential role in diabetes therapy. |
102. |
Danial NN et al. (2003) BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis. |
103. |
Gloyn AL et al. (2003) Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. |
104. |
None (2004) Acquired and inherited lipodystrophies. |
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. |
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. |
107. |
Cuesta-Muñoz AL et al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. |
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. |
109. |
Vits L et al. (2006) Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. |
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. |
111. |
Pinterova D et al. (2007) Six novel mutations in the GCK gene in MODY patients. |
112. |
Spuler S et al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. |
113. |
Vantyghem MC et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. |
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. |
115. |
Kassem S et al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation. |
116. |
None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. |
117. |
Shen Y et al. (2011) Insight into the biochemical characteristics of a novel glucokinase gene mutation. |
118. |
Hofmeister-Brix A et al. (2013) Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner. |
119. |
Fairchild RS et al. (1979) Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient. |
120. |
Martínez-Frías ML et al. (1992) Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. |
121. |
Wagner AJ et al. (1992) Expression, regulation, and chromosomal localization of the Max gene. |
122. |
Gilladoga AD et al. (1992) Mapping of MAX to human chromosome 14 and mouse chromosome 12 by in situ hybridization. |
123. |
Prendergast GC et al. (1991) Association of Myn, the murine homolog of max, with c-Myc stimulates methylation-sensitive DNA binding and ras cotransformation. |
124. |
Blackwood EM et al. (1991) Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc. |
125. |
Kita K et al. (1990) Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria. |
126. |
Mascarello JT et al. (1980) Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization. |
127. |
Zervos AS et al. (1995) Mxi2, a mitogen-activated protein kinase that recognizes and phosphorylates Max protein. |
128. |
Schindelhauer D et al. (1995) The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1. |
129. |
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. |
130. |
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. |
131. |
Au HC et al. (1995) Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase. |
132. |
Hopewell R et al. (1995) The nerve growth factor-responsive PC12 cell line does not express the Myc dimerization partner Max. |
133. |
Tomac A et al. (1995) Protection and repair of the nigrostriatal dopaminergic system by GDNF in vivo. |
134. |
Beck KD et al. (1995) Mesencephalic dopaminergic neurons protected by GDNF from axotomy-induced degeneration in the adult brain. |
135. |
Oppenheim RW et al. (1995) Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF. |
136. |
Schaar DG et al. (1993) Regional and cell-specific expression of GDNF in rat brain. |
137. |
Leckschat S et al. (1993) The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1. |
138. |
Lin LF et al. (1993) GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons. |
139. |
Bermingham N et al. (1995) Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5. |
140. |
Gash DM et al. (1996) Functional recovery in parkinsonian monkeys treated with GDNF. |
141. |
Durbec P et al. (1996) GDNF signalling through the Ret receptor tyrosine kinase. |
142. |
Sánchez MP et al. (1996) Renal agenesis and the absence of enteric neurons in mice lacking GDNF. |
143. |
Pichel JG et al. (1996) Defects in enteric innervation and kidney development in mice lacking GDNF. |
144. |
Moore MW et al. (1996) Renal and neuronal abnormalities in mice lacking GDNF. |
145. |
Treanor JJ et al. (1996) Characterization of a multicomponent receptor for GDNF. |
146. |
Grandori C et al. (1996) Myc-Max heterodimers activate a DEAD box gene and interact with multiple E box-related sites in vivo. |
147. |
Angrist M et al. (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. |
148. |
Salomon R et al. (1996) Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. |
149. |
Ivanchuk SM et al. (1996) De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. |
150. |
Woodward ER et al. (1997) Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. |
151. |
Pichel JG et al. (1996) GDNF is required for kidney development and enteric innervation. |
152. |
Hofstra RM et al. () Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. |
153. |
Amiel J et al. (1998) Mutations of the RET-GDNF signaling pathway in Ondine's curse. |
154. |
Nguyen QT et al. (1998) Hyperinnervation of neuromuscular junctions caused by GDNF overexpression in muscle. |
155. |
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. |
157. |
Annerén G et al. (1998) Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. |
158. |
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. |
159. |
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. |
160. |
Baysal BE et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. |
161. |
Ramer MS et al. (2000) Functional regeneration of sensory axons into the adult spinal cord. |
162. |
Meng X et al. (2000) Regulation of cell fate decision of undifferentiated spermatogonia by GDNF. |
163. |
Messer CJ et al. (2000) Role for GDNF in biochemical and behavioral adaptations to drugs of abuse. |
164. |
None (2000) Oxygen sensing by the carotid body chemoreceptors. |
165. |
Martucciello G et al. (2000) Pathogenesis of Hirschsprung's disease. |
166. |
Boucher TJ et al. (2000) Potent analgesic effects of GDNF in neuropathic pain states. |
167. |
Kordower JH et al. (2000) Neurodegeneration prevented by lentiviral vector delivery of GDNF in primate models of Parkinson's disease. |
168. |
Gimm O et al. (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. |
169. |
Astuti D et al. (2001) Germline SDHD mutation in familial phaeochromocytoma. |
170. |
Milunsky JM et al. (2001) Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. |
171. |
Badenhop RF et al. (2001) Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. |
172. |
Taschner PE et al. (2001) Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. |
173. |
Aguiar RC et al. (2001) Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas. |
174. |
Astuti D et al. (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. |
175. |
Neumann HP et al. (2001) Case 13-2001: genetic testing in pheochromocytoma. |
176. |
Masuoka J et al. (2001) Germline SDHD mutation in paraganglioma of the spinal cord. |
177. |
Bahuau M et al. (2001) GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. |
178. |
Wang CY et al. (2001) Ca(2+) binding protein frequenin mediates GDNF-induced potentiation of Ca(2+) channels and transmitter release. |
180. |
Shen L et al. (2002) Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice. |
181. |
Eketjäll S et al. (2002) Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease. |
182. |
Baysal BE et al. (2002) Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. |
183. |
Japón MA et al. (2002) Glial-derived neurotropic factor and RET gene expression in normal human anterior pituitary cell types and in pituitary tumors. |
184. |
Borghini S et al. (2002) Hirschsprung associated GDNF mutations do not prevent RET activation. |
185. |
Neumann HP et al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma. |
186. |
Kytölä S et al. (2002) Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. |
187. |
Cascon A et al. (2002) Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. |
188. |
Young AL et al. (2002) Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. |
189. |
Gimenez-Roqueplo AP et al. (2002) Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. |
190. |
Perren A et al. (2002) Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients. |
191. |
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. |
192. |
Amiel J et al. (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. |
193. |
Gill SS et al. (2003) Direct brain infusion of glial cell line-derived neurotrophic factor in Parkinson disease. |
194. |
Astrom K et al. (2003) Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. |
195. |
Iwashita T et al. (2003) Hirschsprung disease is linked to defects in neural crest stem cell function. |
196. |
Lima J et al. (2003) Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia. |
197. |
Vanharanta S et al. (2004) Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. |
198. |
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. |
199. |
Maier-Woelfle M et al. (2004) A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. |
201. |
Hensen EF et al. (2004) Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. |
202. |
Riemann K et al. (2004) Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. |
203. |
Boccon-Gibod L et al. () Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome. |
204. |
McWhinney SR et al. (2004) Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. |
205. |
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. |
206. |
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. |
207. |
Cascón A et al. (2006) Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot? |
208. |
Dahia PL et al. (2005) Novel pheochromocytoma susceptibility loci identified by integrative genomics. |
209. |
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. |
210. |
Anitha M et al. (2006) GDNF rescues hyperglycemia-induced diabetic enteric neuropathy through activation of the PI3K/Akt pathway. |
211. |
Brouwers FM et al. (2006) High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. |
213. |
van Nederveen FH et al. (2007) Somatic SDHB mutation in an extraadrenal pheochromocytoma. |
215. |
McWhinney SR et al. (2007) Familial gastrointestinal stromal tumors and germ-line mutations. |
217. |
Cascón A et al. (2008) Molecular characterisation of a common SDHB deletion in paraganglioma patients. |
218. |
Teyra J et al. (2008) SCOWLP classification: structural comparison and analysis of protein binding regions. |
219. |
Pigny P et al. (2008) Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. |
220. |
Chappell L et al. (2008) A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. |
221. |
Carnicella S et al. (2008) GDNF is a fast-acting potent inhibitor of alcohol consumption and relapse. |
222. |
Ni Y et al. (2008) Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. |
223. |
Solis DC et al. (2009) Penetrance and clinical consequences of a gross SDHB deletion in a large family. |
224. |
Martinovici D et al. () Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. |
225. |
Smith SB et al. (2010) Rfx6 directs islet formation and insulin production in mice and humans. |
226. |
Qin Y et al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. |
227. |
Schimke RN et al. (2010) Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. |
228. |
Janeway KA et al. (2011) Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. |
229. |
Hensen EF et al. (2012) High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. |
230. |
None (2011) Succinate dehydrogenase gene variants and their role in Cowden syndrome. |
231. |
Comino-Méndez I et al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. |
232. |
Alston CL et al. (2012) Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. |
233. |
Jackson CB et al. (2014) Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. |
234. |
Alston CL et al. (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. |
235. |
OMIM.ORG article Omim 615710 |