Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

[1]  S. Gruber,et al.  Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. , 2010, JAMA.

[2]  Agnieszka Maliszewska,et al.  Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. , 2010, Molecular endocrinology.

[3]  P. Bénit,et al.  SDHA is a tumor suppressor gene causing paraganglioma. , 2010, Human molecular genetics.

[4]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[5]  G. Viglietto,et al.  Allelic variant at -79 (C>T) in CDKN1B (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels. , 2010, Endocrine-related cancer.

[6]  Patricia L. M. Dahia,et al.  Germline mutations in TMEM127 confer susceptibility to pheochromocytoma , 2010, Nature Genetics.

[7]  G. Castellani,et al.  Regulation of Gene Expression in Hepatic Cells by the Mammalian Target of Rapamycin (mTOR) , 2010, PloS one.

[8]  M. McDevitt,et al.  New lesions detected by single nucleotide polymorphism array-based chromosomal analysis have important clinical impact in acute myeloid leukemia. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[9]  P. Bénit,et al.  The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas , 2009, PloS one.

[10]  Steven P. Gygi,et al.  SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma , 2009, Science.

[11]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[12]  G. Arnaldi,et al.  Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. , 2009, The Journal of clinical endocrinology and metabolism.

[13]  A. González-Neira,et al.  Genetics of pheochromocytoma and paraganglioma in Spanish patients. , 2009, The Journal of clinical endocrinology and metabolism.

[14]  J. Blenis,et al.  Activation of PI3K/Akt and MAPK pathways regulates Myc-mediated transcription by phosphorylating and promoting the degradation of Mad1 , 2008, Proceedings of the National Academy of Sciences.

[15]  F. Calvo,et al.  c-Myc Inhibits Ras-Mediated Differentiation of Pheochromocytoma Cells by Blocking c-Jun Up-Regulation , 2008, Molecular Cancer Research.

[16]  Meredith Wilson,et al.  The clinical phenotype of mosaicism for genome‐wide paternal uniparental disomy: Two new reports , 2008, American journal of medical genetics. Part A.

[17]  Sonja W. Scholz,et al.  Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. , 2007, Human molecular genetics.

[18]  B. Martínez-Delgado,et al.  Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: A possible hot spot? , 2006, Genes, chromosomes & cancer.

[19]  Diana Blaydon,et al.  Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. , 2005, Cancer research.

[20]  Sandro Santagata,et al.  A HIF1α Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas , 2005, PLoS genetics.

[21]  C. Johannessen,et al.  The NF1 tumor suppressor critically regulates TSC2 and mTOR. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[22]  A. Ferguson-Smith,et al.  Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour , 2005, British Journal of Cancer.

[23]  Stephen K. Burley,et al.  X-Ray Structures of Myc-Max and Mad-Max Recognizing DNA Molecular Bases of Regulation by Proto-Oncogenic Transcription Factors , 2003, Cell.

[24]  D. Demetrick,et al.  Loss of Heterozygosity Associated with Uniparental Disomy in Breast Carcinoma , 2002, Modern Pathology.

[25]  J. Strauchen Germ-line mutations in nonsyndromic pheochromocytoma. , 2002, The New England journal of medicine.

[26]  Y. Kuroki,et al.  Paternal UPD14 is responsible for a distinctive malformation complex. , 2002, American journal of medical genetics.

[27]  M. Billaud,et al.  Transforming Ability of MEN2A-RET Requires Activation of the Phosphatidylinositol 3-Kinase/AKT Signaling Pathway* , 2000, The Journal of Biological Chemistry.

[28]  B. Devlin,et al.  Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. , 2000, Science.

[29]  R. Eisenman,et al.  The Myc/Max/Mad network and the transcriptional control of cell behavior. , 2000, Annual review of cell and developmental biology.

[30]  W. Atchley,et al.  Myc and Max: molecular evolution of a family of proto-oncogene products and their dimerization partner. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[31]  E. Ziff,et al.  The nerve growth factor-responsive PC12 cell line does not express the Myc dimerization partner Max , 1995, Molecular and cellular biology.

[32]  A. Saltiel,et al.  c-Myc Does Not Require Max for Transcriptional Activity in PC-12 Cells , 1994, Molecular and Cellular Neuroscience.

[33]  M. Henriksson,et al.  Identification of casein kinase II phosphorylation sites in Max: effects on DNA-binding kinetics of Max homo- and Myc/Max heterodimers. , 1993, Oncogene.

[34]  G. Prendergast,et al.  Biphasic effect of Max on Myc cotransformation activity and dependence on amino- and carboxy-terminal Max functions. , 1992, Genes & development.

[35]  C. Dang,et al.  Involvement of the 'leucine zipper' region in the oligomerization and transforming activity of human c-myc protein , 1989, Nature.

[36]  F. Alt,et al.  Transposition and amplification of oncogene-related sequences in human neuroblastomas , 1983, Cell.