Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma - Wikidata - awgldk - TriplyDB

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

http://www.wikidata.org/entity/Q28241168

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Human genome sequencing in health and disease Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches Murine models and cell lines for the investigation of pheochromocytoma: applications for future therapies?Functional interactions among members of the MAX and MLX transcriptional network during oncogenesis An update on the genetics of pheochromocytoma Pheochromocytoma: implications in tumorigenesis and the actual management The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery High-throughput screening for the identification of new therapeutic options for metastatic pheochromocytoma and paraganglioma Integrative analysis of neuroblastoma and pheochromocytoma genomics data.Impact of the next-generation sequencing data depth on various biological result inferences.Realizing the promise of cancer predisposition genes.MAX is an epigenetic sensor of 5-carboxylcytosine and is altered in multiple myeloma Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.Anti-cancer potential of MAPK pathway inhibition in paragangliomas-effect of different statins on mouse pheochromocytoma cells.Molecular markers of paragangliomas/pheochromocytomas Paragangliomas/Pheochromocytomas: clinically oriented genetic testing MYC Deregulation in Primary Human Cancers.Mitochondrial Deficiencies in the Predisposition to Paraganglioma Genetic predisposition to colorectal cancer: where we stand and future perspectives Next-generation sequencing for cancer diagnostics: a practical perspective.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.10 rare tumors that warrant a genetics referral.Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene Integrated genomic characterization of IDH1-mutant glioma malignant progression Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemia.Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.Progenitor cell line (hPheo1) derived from a human pheochromocytoma tumor Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.Reverse engineering the neuroblastoma regulatory network uncovers MAX as one of the master regulators of tumor progression.Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.Molecular genetic studies of complex phenotypes.

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P2860

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

http://www.wikidata.org/entity/Q28241168

description

2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հունիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

@ast

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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type

label

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

@nl

prefLabel

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

@ast

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

@en

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

@nl

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Nature Genetics

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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Agnieszka Maliszewska

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Aguirre A de Cubas

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Alvaro Gómez-Graña

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Daniela Caronia

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Francisco J Gracia-Aznárez

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Giuseppe Pica

http://www.w3.org/2001/XMLSchema#string

Guillermo Pita

http://www.w3.org/2001/XMLSchema#string

Javier Benítez

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José A Díaz

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Mercedes Gómez-Morales

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P2860

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

Myc and Max: molecular evolution of a family of proto-oncogene products and their dimerization partner

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

The Sequence Alignment/Map format and SAMtools

The Myc/Max/Mad network and the transcriptional control of cell behavior

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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663-667

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scholarly article

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92042

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10.1038/NG.861

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7

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43

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Anna González-Neira

Giuseppe Opocher

Mercedes Robledo

Massimo Mannelli

Cristina Rodríguez-Antona

Giovanna Roncador

Alberto Cascón

Francesca Schiavi

Emiliano Honrado

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2011-06-19T00:00:00Z

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51231361

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21685915

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phaeochromocytoma