Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes
- 2 August 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (2) , 261-268
- https://doi.org/10.1016/j.ajhg.2008.07.011
Abstract
No abstract availableThis publication has 30 references indexed in Scilit:
- Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association StudiesAmerican Journal of Human Genetics, 2007
- Cancer phenomics: RET and PTEN as illustrative modelsNature Reviews Cancer, 2006
- p53 Down-Regulates Phosphatase and Tensin Homologue Deleted on Chromosome 10 Protein Stability Partially through Caspase-Mediated Degradation in Cells with Proteasome DysfunctionCancer Research, 2006
- Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma SyndromesJournal of Clinical Endocrinology & Metabolism, 2006
- PTEN Autoregulates Its Expression by Stabilization of p53 in a Phosphatase-Independent MannerCancer Research, 2006
- PTEN: One Gene, Many SyndromesHuman Mutation, 2003
- G12S and H50R variations are polymorphisms in the SDHD geneGenes, Chromosomes and Cancer, 2003
- Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patientsOncogene, 2002
- Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomasGenes, Chromosomes and Cancer, 2002
- Negative Regulation of PKB/Akt-Dependent Cell Survival by the Tumor Suppressor PTENCell, 1998