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D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2

, Patricia L. M. Dahia & Ricardo C. T. AguiarDepartment of Pediatrics, Children’s Medical Center Research Institute, University of Texas Southwestern, Dallas, Texas 75390, USAJessica Sudderth, Dinesh Rakheja ... Ralph J. DeBerardinis in:Nature Research journals • PubMed • Google ScholarSearch for Heinz Sill in:Nature Research journals • PubMed • Google ScholarSearch for Patricia L. M. Dahia in:Nature Research

PTEN Is Inversely Correlated With the Cell Survival Factor Akt/PKB and Is Inactivated Via Multiple Mechanisms in Haematological Malignancies

PTEN is a novel tumour suppressor gene that encodes a dual-specificity phosphatase with homology to adhesion molecules tensin and auxillin. It recently has been suggested that PTEN dephosphorylates phosphatidylinositol 3,4,5-trisphosphate [PtdIns(3,4,5)P3], which mediates growth factor-induced activation of intracellular signalling, in particular through the serine-threonine...

A HIF1α Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas

Pheochromocytomas are neural crest–derived tumors that arise from inherited or sporadic mutations in at least six independent genes. The proteins encoded by these multiple genes regulate distinct functions. We show here a functional link between tumors with VHL mutations and those with disruption of the genes encoding for succinate dehydrogenase (SDH) subunits B (SDHB) and D...

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

. Tolmie Richard Trembath Robin M. Winter Elaine H. Zackai Roberto T. Zori Liang-Ping Weng Patricia L. M. Dahia Charis Eng - Germline mutations in the tumour suppressor gene PTEN have been implicated in

Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation

The tumour suppressor gene PTEN, which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein tyrosine phosphatase; PTPase), was shown recently to play a broad role in human malignancy. Somatic PTEN deletions and mutations were observed in sporadic breast, brain, prostate and kidney cancer cell lines and in several primary tumours such as endometrial...