Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. - Wikidata - wikimedia - TriplyDB

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

http://www.wikidata.org/entity/Q34230316

about

Detectable clonal mosaicism and its relationship to aging and cancer Characterization of large structural genetic mosaicism in human autosome Mutations in isocitrate dehydrogenase 1 and 2 occur frequently in intrahepatic cholangiocarcinomas and share hypermethylation targets with glioblastomas Genetics and Epigenetics of Glioblastoma: Applications and Overall Incidence of IDH1 Mutation New developments in the pathogenesis and therapeutic targeting of the IDH1 mutation in glioma Novel therapeutic targets of tumor metabolism IDH1 and IDH2 mutations as novel therapeutic targets: current perspectives Maffucci syndrome and neoplasms: a case report and review of the literature 2-Hydoxyglutarate: D/Riving Pathology in gLiomaS Traumatic brain injury and subsequent glioblastoma development: Review of the literature and case reports Detectable clonal mosaicism in the human genome IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals Metabolic reprogramming: a cancer hallmark even warburg did not anticipate Understanding venous malformations of the head and neck: a comprehensive insight.The ageing genome, clonal mosaicism and chronic disease.Molecular pathology of bone tumours: diagnostic implications.Metabolic requirements for the maintenance of self-renewing stem cells.Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.Tumor development is associated with decrease of TET gene expression and 5-methylcytosine hydroxylation.Hominoid-specific enzyme GLUD2 promotes growth of IDH1R132H glioma Sarcoma classification: an update based on the 2013 World Health Organization Classification of Tumors of Soft Tissue and Bone.Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyglutarate in Drosophila.Chondrosarcoma of the nasal cavity in a patient with Maffucci syndrome: case report and review of the literature.IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.Isocitrate dehydrogenase 1 mutations (IDH1) and p16/CDKN2A copy number change in conventional chondrosarcomas.Mutant IDH is sufficient to initiate enchondromatosis in mice.SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates Metabolic reprogramming in mutant IDH1 glioma cells.FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes.Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells.Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.Emerging insights into the molecular and cellular basis of glioblastoma.Alterations of metabolic genes and metabolites in cancer.The oncometabolite D-2-hydroxyglutarate induced by mutant IDH1 or -2 blocks osteoblast differentiation in vitro and in vivo.Integrative DNA methylation and gene expression analysis to assess the universality of the CpG island methylator phenotype D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function.Targeting cancer metabolism.Isocitrate dehydrogenase mutations in gliomas

P2860

Q23916196-D4A681C9-FFAE-4A56-933B-91C113A3144D Q24169697-7612C4B7-7969-4FB0-B08F-4FC131C7F9DF Q24610836-A11F68AB-82D7-4BA7-98A1-6076D50CB867 Q26767392-6154BE20-6A71-49A0-9FF4-6065534CE7FE Q26863394-431A4D3A-35FA-489D-BB9E-29C4A02D9F68 Q27005930-38EFA43B-9A6B-46FD-A52A-9BBD96A5B341 Q28066926-BB9C5807-7E79-41F6-A0AE-5BB182FBBD1D Q28069937-04CF5EAC-109C-47F5-A571-115970DF3FFC Q28087807-0AE918CD-FF5D-407F-BA17-4CE860140191 Q28388337-6934EE7F-2566-4750-8316-E258DF9C905D Q28392522-AD82B516-0C3C-4202-B652-C9567668BA3D Q28396617-1FE52855-7F3F-4F99-A6E5-3937248341BC Q28397138-CE6AC16A-E4FF-4912-97D6-B55DE373466C Q29617612-BAA04188-103F-498C-8266-60901A4B5E68 Q30235992-C859268A-8A3C-45A2-8E34-DCF9ADA410EB Q30239099-F2043E9C-34DD-4F45-AA4A-24FEFC4AE51A Q33275105-728A82CF-419E-4A4C-9225-740B546E9312 Q33893346-1ABDFFAC-2386-4B5A-8645-50BD43610ED1 Q34153810-DF2CE729-285D-4F08-ADB1-586735858F6B Q34258768-E3E2AF8C-BD56-4939-957A-E0E95B3B8C83 Q34314291-BF36DD21-E503-4817-9E01-FDF3C792D0C3 Q34660467-F298A94D-AACE-47D5-BCD3-7BA05FF27E8D Q34876800-3D6F54D1-494D-409F-A349-B47C6070E12A Q34995126-651C201E-73D2-4363-9703-3695B47A2067 Q35051932-E2D79CFA-9ED0-43FF-8793-E4F5B1D561AD Q35075164-B150A3E0-1B31-4AB9-9E8C-1A7865090AFC Q35156925-FA8C8A25-D247-4806-A006-B9E546B47806 Q35176027-16263EAD-E3D7-4410-A40D-CB7E60F21364 Q35566048-A11E5C45-834B-4F72-8999-F5A27297444E Q35668685-95DAB147-510E-43FE-B31E-526901E59355 Q35687860-ADC5C6F2-8E10-467C-ACBE-03EB1D2219B2 Q35774484-07F16B14-0334-4525-9D27-67D82C3B2FA4 Q35887744-8C5D0F2E-3705-4551-B5B3-7C02AD2E65EB Q35914897-3EDC3393-6FC5-4D1E-82B7-00C83A583BE7 Q35957146-AEC0387D-271F-41DD-B8B8-2DF5960E4AE5 Q36020846-44EDA519-CD9E-417E-B04E-F83D98E07BD4 Q36154630-6A7AE31A-AE62-40D6-B031-21D94F18C64D Q36240913-50C2E77A-888B-4F8E-9CAD-CFA8197477A1 Q36330869-A2B97462-00BA-4237-8639-FCA513631F59 Q36367409-D48D6F86-2503-4AD3-A85D-C1D7460C2B51

P2860

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

http://www.wikidata.org/entity/Q34230316

description

2011 nî lūn-bûn

@nan

2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@ast

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@en

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@nl

type

label

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@ast

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@en

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@nl

prefLabel

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@ast

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@en

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@nl

P1433

Q34230316-FF0E0CC0-D933-45AB-85FD-BD58448AFE69

P1476

Q34230316-EE0A451A-376F-4C5C-B8EB-2DC87A6BE065

P2093

Q34230316-0AC8E1F0-38C1-4E58-93EC-AF4DF16AFEC0

Q34230316-0C6E6BD9-35AA-4370-A075-949807F6B4DF

Q34230316-1724476B-2AA2-4A51-8219-49213EDCC07A

Q34230316-21F3926A-56D4-4BD6-9852-0BB6E04EAFC8

Q34230316-31D40FCA-E0F4-45C2-BCB3-AF1A8190484D

Q34230316-3BC71F1B-93C0-4C9A-B3B8-55ED421AFB58

Q34230316-44FE5C27-DB14-40E2-AD58-5191CA5EFB75

Q34230316-500BF5D2-85DF-483B-BD96-BE29D9B4F8F1

Q34230316-5CC7B623-9F45-4739-AAB7-112E5A1E8767

Q34230316-7AC796C5-13CA-44BE-932E-7DBFB0D22F50

P2860

Q34230316-1C49E91D-2B5F-4CD1-B362-A1AED17454FC

Q34230316-23C800C6-50B9-4D8D-9C9B-F1BCB394C952

Q34230316-32544456-EEDE-4B6B-9642-F0B6563B0FB4

Q34230316-4F51C107-61B9-4108-A13B-2443347FF860

Q34230316-5A730700-B107-4006-B72A-3AD4310666B6

Q34230316-7D7D4854-7DF4-4F3E-B413-CA96EECDA48F

Q34230316-94571A2C-518F-425A-8A48-DF25D6BF9CC3

Q34230316-DD212D23-579B-43C2-87E5-2D943933D040

Q34230316-DF002365-524A-4869-8D73-C63ACDDD85D4

P2888

Q34230316-E11B835B-8BE1-4754-B50C-1A03FCB21432

P304

Q34230316-27467E48-06E6-48A8-9949-EDFF70F3750F

P31

Q34230316-409DE042-DC9D-4732-8587-028BB15B2A16

P356

Q34230316-A64088F8-E9BE-4E52-AF71-FAFDD044FBC3

P407

Q34230316-7C325007-EDF1-410C-B459-77F64A4F6F4B

P433

Q34230316-FD81C1D2-7142-4C24-9F65-D26353C4F12C

P478

Q34230316-78D83426-B828-4CA4-937D-AE279A719383

P50

Q34230316-F473B5EC-B983-4C39-9B97-AEEAB87D4CCD

P577

Q34230316-870E6FD6-CDE1-4958-AC22-B1AF0590DF8C

P5875

Q34230316-7D8ECB58-7B55-4EB6-87A0-74A78A05EFC6

P698

Q34230316-AA73C1B4-649D-43E2-AC7B-3143916F5283

P356

P1433

Nature Genetics

P1476

Ollier disease and Maffucci sy ...... ic mutations of IDH1 and IDH2.

@en

P2093

Adrienne M Flanagan

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

Claire L Green

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

Dina Halai

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

Fiona Bonar

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

Fitim Berisha

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

Kimberly S Straley

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

M Fernanda Amary

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

Malihe Eskandarpour

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

Nadège Presneau

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

Peter Campbell

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

P2860

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma

Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation

Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours.

A mutant PTH/PTHrP type I receptor in enchondromatosis.

IDH mutations in glioma and acute myeloid leukemia.

Genome-wide analysis of Ollier disease: Is it all in the genes?

Value and limitations of immunohistochemistry and gene sequencing for detection of the IDH1-R132H mutation in diffuse glioma biopsy specimens.

P2888

P304

1262-1265

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

P31

scholarly article

P356

10.1038/NG.994

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

P407

P433

12

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

P478

43

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

P50

P Andrew Futreal

P577

2011-11-06T00:00:00Z

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

P5875

51773697

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

P698

22057236

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