Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). - Wikidata - wikimedia - TriplyDB

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

http://www.wikidata.org/entity/Q33480945

about

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology L1TD1 is a marker for undifferentiated human embryonic stem cells Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2 Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation The ancient and evolving roles of cohesin in gene expression and DNA repair Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis A unifying genetic model for facioscapulohumeral muscular dystrophy Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells Next-generation genomics: an integrative approach Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Ring Finger Protein 14 is a new regulator of TCF/β-catenin-mediated transcription and colon cancer cell survival.Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.A novel tRNA variable number tandem repeat at human chromosome 1q23.3 is implicated as a boundary element based on conservation of a CTCF motif in mouse.FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis)Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites.A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.Coordinated chromatin control: structural and functional linkage of DNA and histone methylation.DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns Gene expression during normal and FSHD myogenesis.DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.Distinct epigenomic features in end-stage failing human hearts DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy A novel role for an RNA polymerase III subunit POLR3G in regulating pluripotency in human embryonic stem cells.DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.Clinical features of facioscapulohumeral muscular dystrophy 2.Polycomb repressive complex 2 and H3K27me3 cooperate with H3K9 methylation to maintain heterochromatin protein 1α at chromatin.Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35).

P2860

Q21195884-351B95CE-CAEF-46E0-AD8D-7E835B8AFCA3 Q21560828-CEAF06CE-73F5-4BA9-94D9-8CA0E4DEB04A Q21563357-A1EB6758-389F-4814-91A1-ECEF83B502DD Q21563391-37F4512C-79A5-4E8F-A3A3-77EB38D9B83F Q24622599-6968EFDA-8B9C-4743-962F-469A1A56B5BE Q24657535-A528CD8B-CCF5-4986-B3F1-FAC76F5745F4 Q26861558-83300FF9-9E0E-4B13-844F-2EC34131E0D8 Q26998289-ECA92CED-25A9-4365-B0F9-3C077B17947B Q27014855-B20227D2-3B5E-4549-8FE0-5B57B7100783 Q27322323-68115A5E-5E2E-45B2-820E-3E8473BE1F79 Q27687330-D325C5FA-D140-4555-8A02-8D0F7A3A7CE1 Q28271204-1DB6AF2E-E150-44F1-95E6-C14F86DBFF3B Q28291033-3288E617-A5B5-4D0D-A498-8081A4FB6AF2 Q28553207-9D8555A4-181D-48D0-85B3-43260B4CF509 Q28730711-E2B3C966-2072-496C-A35D-815D7B46B066 Q28743493-0325C9CF-4063-4109-A30A-535B78D8E7F5 Q29010925-00908868-5743-4661-A3F2-DA462D81F2AE Q29026180-41203320-CE02-4A14-8185-78AE1F20C8A0 Q29303884-7212063B-7419-4FF8-B973-EDF396BEE6B9 Q30414002-EE10660D-7C39-4C91-86D9-45AB72F1E6CE Q33602618-90C9DB77-B0B4-4676-A25D-AE5194469112 Q33614782-5051411A-EBB9-4FD0-A348-EAF98FEA41EC Q33698629-79DA9C74-8B4C-4067-8BA3-5FD7A17A9978 Q33741958-F1586124-EB1F-4A46-80FC-3EF0EAEDE0DA Q33748620-7B6AB895-C68F-4D1C-B5B1-9D8C5A6738DE Q33756692-074AEB72-1C04-403A-BDDE-60A0202C4A8B Q33802703-BDB496D6-CC6C-497C-B041-C1D1D32F7D91 Q33903001-5A394352-B47C-453D-ACBE-DECB496E565B Q33939411-9FFDD3BB-51DD-4843-AD53-11258DD70C2A Q34032716-968A05B1-F4C3-4640-95C4-E5136A0A34B5 Q34055776-57F7DE1F-09B8-4A47-BE0F-38497254B06D Q34057105-07BEEC56-EA37-420E-9039-D22E3A7F423D Q34077893-AC73E4FA-B4EA-4014-B756-360812E66928 Q34214154-7C601669-DE74-4954-B1CA-7EA7128D1455 Q34243739-6CD19C22-C335-4832-AA62-92C4CDA0218C Q34247338-B407B849-1738-4D18-846B-C5E957F5761E Q34281836-88D7D831-47ED-4BFC-BBB5-6CE472F097FC Q34297995-259A67C8-B1C0-4133-BD79-E3E61C02AA25 Q34300873-1917828D-5444-4F25-A294-EA37008B2EA5 Q34348616-362D6575-627C-41EB-9D8A-E2C0459AD35A

P2860

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

http://www.wikidata.org/entity/Q33480945

description

2009 nî lūn-bûn

@nan

2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@ast

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@en

type

label

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@ast

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@en

prefLabel

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@ast

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@en

P1433

Q33480945-7CA2B691-7971-45F2-881D-53BEE46238CC

P1476

Q33480945-F995A8B4-9D33-47B5-9437-A4839AA20E0A

P2093

Q33480945-05AC6FEC-10BE-4849-B0EE-997244A6543D

Q33480945-0740306A-592F-4793-9643-9E9E2235FFA6

Q33480945-1A3F648C-A100-4C86-9512-9D5B4A0E12A8

Q33480945-20E7D8F1-2B62-47F8-8824-7E4461EAFEC4

Q33480945-313295A9-5560-4309-B642-7C2FA04733D0

Q33480945-36A3CEDF-EA8D-4F63-ABFC-804DE105E327

Q33480945-6A1E458B-AA14-436F-815B-9F0FBFFB6369

Q33480945-71078410-EB21-4531-B3FE-87213D2A4480

Q33480945-7A11FA3C-D0CC-4436-A233-C60BE577B825

Q33480945-7F637ACF-F2A3-4AFE-AB1E-A2FF400CF097

P2860

Q33480945-0129C362-AF23-41D2-8592-037B9343C511

Q33480945-03EC904A-FF01-4AF0-B697-893B12E778CE

Q33480945-08EA2C0A-5B6D-464E-B6D2-ED9ADD4CFEF7

Q33480945-0E0FB4D9-860C-4A7D-9DED-32037583F267

Q33480945-15F2BEEF-F184-4BDE-97EF-4DE8BDFB6260

Q33480945-19FA2DDB-CC04-4E50-B26C-A49EF20D66A8

Q33480945-1A1C5500-1731-43FF-9A58-B88A5434F95E

Q33480945-1DAB1C5D-A6C9-4379-B9E4-9FB981DE106C

Q33480945-1F864859-034D-44D1-8B81-838753E7B2DB

Q33480945-20893F1E-2D46-401C-A638-C807F9A92B84

P304

Q33480945-182FE4DE-3102-48E8-B360-3BFC24AD7F8E

P31

Q33480945-C2B7B1D2-F537-46B4-AB0A-46FD6C13B4E2

P356

Q33480945-69514AF6-3B33-48A4-9BB8-3757BF75C6A9

P433

Q33480945-1D4FE2F4-F6C1-44B2-AB5A-C50F5A8A597B

P478

Q33480945-69373E44-0A96-4AC2-82BC-5CD5E9A3E770

P50

Q33480945-7CED7138-7403-4913-BD7E-000F9B37F3FD

Q33480945-E7E8DA8F-8F31-4212-9DCE-0B94A3B61309

P577

Q33480945-15106EDD-D1AE-4215-ADC3-E0AE812B1E55

P5875

Q33480945-A20ED833-E5F6-443D-A225-D4FAFE6ADC81

P698

Q33480945-4E9D47A8-2E63-4EE2-BE60-D5368277146C

P932

Q33480945-49819879-755D-4641-8D38-3EDB74507649

P356

JOURNAL.PGEN.1000559

P1433

P1476

Specific loss of histone H3 ly ...... apulohumeral dystrophy (FSHD).

@en

P2093

Alexander R Ball

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

April Pyle

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

Heather C Gregson

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

Jessica C de Greef

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

John A Schmiesing

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

Judit Balog

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

Kyoko Yokomori

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

Leslie F Lock

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

Peter J Donovan

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

Richard Chien

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

P2860

Interchromosomal associations between alternatively expressed loci

A potential role for human cohesin in mitotic spindle aster assembly

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1

CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to Igf2

The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain

Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster

A Suv39h-dependent mechanism for silencing S-phase genes in differentiating but not in cycling cells.

Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins

P304

e1000559

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

P31

scholarly article

P356

10.1371/JOURNAL.PGEN.1000559

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

P433

7

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

P478

5

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

P50

Keith D. Robertson

Silvère M van der Maarel

P577

2009-07-10T00:00:00Z

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

P5875

26662273

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

P698

19593370

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

P932

2700282

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