Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

American Journal of Human Genetics

Volumn 69, Issue 1, 2001, Pages 49-54

  Astuti, Dewi ^a   Latif, Farida ^a   Dallol, Ashraf ^a   Dahia, Patricia L M ^b   Douglas, Fiona ^c   George, Emad ^d   Sköldberg, Filip ^e   Husebye, Eystein S ^e   Eng, Charis ^f,g   Maher, Eamonn R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

^d King's Lynn Hospital   (United Kingdom)

^e UPPSALA UNIVERSITY   (Sweden)

^f OHIO STATE UNIVERSITY   (United States)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FERREDOXIN; GENE PRODUCT; SUCCINATE DEHYDROGENASE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARCINOGENESIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GERM LINE; HAPLOTYPE; HETEROZYGOSITY LOSS; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034964421     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321282     Document Type: Article

References (26)

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2. Germline SDHD mutation in familial phaeochromocytoma
3. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
4. Sporadic and familial pheochromocytomas are associated with loss of at least two discrete intervals on chromosome 1p
5. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
6. Mutagenesis, tumorigenicity, and apoptosis: Are the mitochondria involved?
7. Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
8. Hypoxia inducible factor-α binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein
9. Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma
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11. Mitochondria and apoptosis
12. Von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF
13. Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases
14. A report of familial carotid body tumors and multiple extra-adrenal pheochromocytomas
15. The VHL tumour suppressor gene paradigm
16. Genetics of phaeochromocytoma
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18. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
19. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type 2
20. Mutations in SDHC cause autosomal dominant paraganglioma, type 3
21. Frequent allelic imbalance suggests involvement of a tumor suppressor gene at 1p36 in the pathogenesis of human lung cancers
22. Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein
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26. Genetic predisposition to phaeochromocytoma: Analysis of candidate genes GDNF, RET, and VHL