The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome - Test2 - elhamkhani - TriplyDB

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

http://www.wikidata.org/entity/Q24647294

about

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)The DNA sequence and comparative analysis of human chromosome 20 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3 Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis.Locus-specific control of asymmetric and CpNpG methylation by the DRM and CMT3 methyltransferase genes The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a CpG binding protein is crucial for early embryonic development Isolation and characterization of a novel DNA methyltransferase complex linking DNMT3B with components of the mitotic chromosome condensation machinery Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining X chromosome inactivation The molecular pathology of primary immunodeficiencies Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins Epigenetics of cervical cancer. An overview and therapeutic perspectives Analysis of repetitive element DNA methylation by MethyLight.Permissive transcriptional activity at the centromere through pockets of DNA hypomethylation.Modifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in Disease Towards an understanding of the role of DNA methylation in rheumatoid arthritis: therapeutic and diagnostic implications Cytosine modifications in neurodevelopment and diseases Cross-talk between site-specific transcription factors and DNA methylation states Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases Epigenomics: the science of no-longer-junk DNA. Why study it in chronic kidney disease?Heterochromatin instability in cancer: from the Barr body to satellites and the nuclear periphery DNA demethylation caused by 5-Aza-2'-deoxycytidine induces mitotic alterations and aneuploidy Regulation of the promoter activity of interferon regulatory factor-7 gene. Activation by interferon snd silencing by hypermethylation Chromatin remodeling, histone modifications, and DNA methylation-how does it all fit together?The nuclear oncoprotein TLX1/HOX11 associates with pericentromeric satellite 2 DNA in leukemic T-cells dim-2 encodes a DNA methyltransferase responsible for all known cytosine methylation in Neurospora Methylation matters The PWWP domain of Dnmt3a and Dnmt3b is required for directing DNA methylation to the major satellite repeats at pericentric heterochromatin Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells PML bodies provide an important platform for the maintenance of telomeric chromatin integrity in embryonic stem cells Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases DNA methylation and human disease The NIH Roadmap Epigenomics Mapping Consortium A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms.MBDin, a novel MBD2-interacting protein, relieves MBD2 repression potential and reactivates transcription from methylated promoters.DNA methylation, methyltransferases, and cancer.

P2860

Q21203047-814E1745-EA3D-4D61-BD7C-192E8039D680 Q21735926-018EBDAB-E635-469F-BD4C-C0E9A4D8C205 Q24302010-29FEC8BB-F55A-40E6-9972-76910C190E5C Q24304895-7F6F874A-AA4F-47FE-9A4D-FFA785CAEBF7 Q24535499-EA08FA2A-C0F0-4DB8-B0F4-33DA3FE86326 Q24540245-A0983A97-D617-4DA3-A08E-D7ADEA611745 Q24544000-4FF42558-C560-46A2-9774-96ADD5C2EC50 Q24548274-DBE6BD24-9130-4779-AC89-51348FC374E9 Q24562316-FCEEF139-FAD9-4C1C-8C55-2408AB7B9EA9 Q24678487-90DDC2E1-B3C8-4003-8913-D160FACF2994 Q24685932-296EC789-FB3D-4FC9-88A3-2532BC4BDFE4 Q24798032-8F12664C-20CB-46E8-A7CB-48BEF8E8BC4B Q24798816-80D8AB59-99AA-49C4-84BC-7A4AE35A6876 Q24812104-5779B1AA-1023-4DE5-B61F-240C6E659D8F Q24814952-C5DECCE0-1031-4463-88F4-2DA4ECDD740D Q25257502-E65212E3-7860-4246-B0DB-D2B7D7563291 Q26742136-E7D7ABC2-5E0A-4B01-BBAB-D3C42F077038 Q26783490-0052EF05-B691-4D28-B18B-36A164457EF2 Q26852087-30C2A418-133D-41FF-9805-AC7BC9976DB6 Q26860809-A6340A1C-123D-4EAD-A345-20F480A35D4F Q26992084-52D216FA-0C63-4579-8B69-9317C55248E5 Q27009992-551DFAFE-1D34-4B37-9052-D6302C41FB85 Q27013782-B5E675B2-4896-47FE-B313-D3C586BC4F3B Q27025623-AC580B60-5D6F-4966-A7EB-88E15C9825F7 Q27339980-8A860E5D-33DE-449F-A089-E8116AC68A08 Q28115670-00C3C601-7F87-47E2-A600-A53A94A7CF3B Q28203279-F4EB72B9-FC54-421F-A85A-235A0CC05388 Q28287249-A225FC34-B98C-4B81-AA28-8729560E7E3C Q28345107-A7B1BFAD-382D-4463-97DA-F74C12D1B993 Q28364163-F681FFE3-47C5-4510-BFF8-B8A9DFF4674E Q28507079-9E830145-93FA-4319-8D4A-BE9869E2568E Q28553207-2D7515AC-8901-4C10-BA55-EDAFC8D4C194 Q28587544-65172868-A551-424F-8B11-85C63E78150A Q28587647-D1DA8C38-7CB2-406C-874E-EA07F940D2D4 Q29615417-5DE9266B-4556-4701-A88D-B19D22E4A2AA Q29619856-779FFA15-75FE-4C2C-B278-B6319D0600D4 Q30394033-1C3602AA-CF58-46BE-9A57-C631D5A78B4E Q30552760-AA46DC28-87C2-4FF9-98EC-22B4CB80BDA2 Q30887023-E85D1038-F6B4-4D1E-9BB8-7DC9D9402F99 Q30993657-D564BEC9-A805-4F3D-B99E-A531C27768F8

P2860

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

http://www.wikidata.org/entity/Q24647294

description

1999 nî lūn-bûn

@nan

1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

1999年の論文

@ja

1999年論文

@yue

1999年論文

@zh-hant

1999年論文

@zh-hk

1999年論文

@zh-mo

1999年論文

@zh-tw

1999年论文

@wuu

name

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@ast

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@en

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@nl

type

label

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@ast

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@en

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@nl

prefLabel

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@ast

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@en

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@nl

P1433

Q24647294-7C0DB265-A161-419D-BAE8-12EBAA29AFD4

P1476

Q24647294-B710F8D6-2147-4A27-8ADA-B81610B1247F

P2093

Q24647294-463AB28A-8FB2-4476-B66C-7A57A0A471E1

Q24647294-8D4EFCAB-DF5C-4EF1-9746-155CE95C5C37

Q24647294-92347684-6E6C-4C42-A45B-1CE99C99B46D

Q24647294-969F3C9C-34B9-41EE-8AF4-CDAFB9BFA148

Q24647294-B75286C2-361A-4009-BEDD-FB687D128826

Q24647294-CF05621B-C584-4878-8D3C-E9CA88EED070

P2860

Q24647294-0BB1ADE1-468B-4986-ABE0-B68751DF6C92

Q24647294-12CAC20A-C515-42C7-992A-282CB627DFCB

Q24647294-15638A02-DDF1-483B-B3D9-98A77661A0DC

Q24647294-15974D88-642C-4BBA-99E0-CC5FDEE57B6C

Q24647294-20A8A9E8-A984-4CE2-8E76-B54B06260666

Q24647294-253777AF-BD9A-49B7-892D-56A1ED9D81DA

Q24647294-359F2057-AFEC-406F-B30B-C95BDD1B976B

Q24647294-3A94EC39-D9AE-4752-838F-ABB700AEAB7B

Q24647294-3DEBA6F2-13F0-4003-A0D4-78EE21148945

Q24647294-481BB881-EB4C-4A82-BA78-6C2F0ECF594C

P304

Q24647294-3CCDD04F-CC0C-40BC-B946-539CE61281A0

P31

Q24647294-85749353-40C1-4292-8888-787B13BDA4EA

P3181

Q24647294-07827726-E267-43A4-A400-0E6AD11AEC8F

P356

Q24647294-0C7D696C-968F-4C89-8BDD-A3DBFF91867C

P407

Q24647294-A74B6D5B-8B21-48B5-A342-9EB3674C386B

P433

Q24647294-28254BF8-579E-48DE-86D9-FBCE16A2106A

P478

Q24647294-D7DACE4D-2130-4835-B90C-BCEAC8EE535E

P50

Q24647294-431A8709-5279-4DBC-95E3-234A74801CC5

P577

Q24647294-F28A7BB4-5335-432C-B486-BEF373DE3660

P5875

Q24647294-B589FE48-C4B8-4BBB-9C60-B897A023C9BF

P698

Q24647294-22C8C9E6-1831-4BA2-AD0E-BC7BD2E6D8E3

P932

Q24647294-A0A54B42-9D78-422E-9106-E77FA2157B47

P3181

P356

PNAS.96.25.14412

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

@en

P2093

A M Stanek

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

C M Weemaes

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

P Luo

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

R S Hansen

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

S M Gartler

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

T K Canfield

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

P2860

The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors

Cloning, expression and chromosome locations of the human DNMT3 gene family

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Isolation and characterization of the cDNA encoding human DNA methyltransferase

The DNA (cytosine-5) methyltransferases

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases

Eukaryotic DNA methylation as an evolutionary device.

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

A gene essential for de novo methylation and development in Ascobolus reveals a novel type of eukaryotic DNA methyltransferase structure.

P304

14412-7

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

P31

scholarly article

P3181

644658

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

P356

10.1073/PNAS.96.25.14412

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

P407

P433

25

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

P478

96

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

P50

P577

1999-12-07T00:00:00Z

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

P5875

12712052

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

P698

10588719

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

P932

24450

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