A unifying genetic model for facioscapulohumeral muscular dystrophy - Wikidata - awgldk - TriplyDB

A unifying genetic model for facioscapulohumeral muscular dystrophy

A unifying genetic model for facioscapulohumeral muscular dystrophy

http://www.wikidata.org/entity/Q28291033

about

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology 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 Oxidative Stress-Mediated Skeletal Muscle Degeneration: Molecules, Mechanisms, and Therapies Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation Somatic mosaicism: implications for disease and transmission genetics Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)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.Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation Population-based incidence and prevalence of facioscapulohumeral dystrophy Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells LINE-1 elements in structural variation and disease Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR 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 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy Facioscapulohumeral Dystrophy.[Facioscapulohumeral muscular dystrophy. Clinical picture, atypical forms, diagnostics, genetics].Genetics. Exposing a DUX tale.Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.Human skeletal muscle xenograft as a new preclinical model for muscle disorders 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)Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome.A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.Upper girdle imaging in facioscapulohumeral muscular dystrophy.Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.

P2860

Q21195884-248E22F4-6421-493C-B527-53C09CF6E857 Q21563357-41E8049C-5BFB-4B7F-BD3B-7C5816890C35 Q21563391-8D952209-6E88-475C-A382-2729C20D6F02 Q24622599-04D77467-8ADF-4871-8278-8B0664B90042 Q26769962-89374EED-53A5-4CEA-AA0F-1AB41F716214 Q26861558-80934655-5E63-4F15-8D9A-F173EF252C82 Q26998289-450F1DCA-37EA-4CDF-9374-7AA6C092E9B9 Q27016060-B906746A-4C7A-4876-B126-5F7F9BB1C507 Q27318439-9B8377B4-7DFB-4FA2-8ACF-814F62BF6030 Q27322323-1E5CB8D6-6E79-4C7A-BB98-51421B0275C4 Q27687330-3551C731-2948-4B00-BA83-45F16C059A94 Q28069201-4491EE0C-7C72-438A-8BC2-897774DF4960 Q28114835-BAD191C8-BC90-4AB7-93A9-80DD9691D676 Q28245908-EAD4D69A-711F-43C0-8840-8DE1A8430C5E Q28271204-E597AE6F-9C08-4AD3-8166-B282CD52C0B4 Q28513387-F9605FB0-D4D9-42BE-8DD5-8F6886AE3343 Q28553207-1A98CC0F-D666-46B1-9AA0-1CB7C00948B8 Q28654758-06CE008A-90EC-4711-BFF4-3D8F67940C6B Q28710007-AC72046F-57D6-4FDC-9C56-E274FD9F517E Q29010925-FF63FB4A-1CD6-4232-B6AA-54C93673E432 Q29026180-947F1FCE-C82C-4714-82AB-CEFB5B752C8A Q29303884-E2190F92-AA6A-42E6-ACED-428C49436B88 Q29391941-EAF2C28D-2621-4541-84A7-BDAA8FE9861F Q29465788-5762044D-A8C1-4AEE-B2FE-BA98A22ED2C5 Q29465800-3648078C-1BBF-4F5C-8767-78C187BFDD6F Q30009101-E403FA78-357C-41BA-AE17-7C9EE15D7D26 Q30250223-1ADCA241-9A32-4193-AAA2-8AEFB7000A7C Q30318405-78C49D07-61AB-41AE-B132-8E75B9974DBB Q30451985-15FCEE09-2F16-4B94-B209-DCEEAB2B98F6 Q33602618-7979FCAD-5FA2-44C3-A8C0-09D5AE221CF0 Q33615189-878D4AB4-464C-47E6-B4E8-73C458351AFE Q33649287-A5736632-996C-42E9-87C7-DE2ADFA95DDE Q33698629-ED7B9E7C-1DA8-48C5-813C-DCC2D26213B0 Q33741958-FE4ABE63-CB15-4A51-B950-AC0D3B1D0F2E Q33747006-F831957F-FB5C-4FF4-8E4E-BAE7CA93B21A Q33756692-DC47598D-6D86-4427-9546-A97AEBD0AA55 Q33763548-B748A296-CB7B-430E-8534-621363EDC362 Q33851463-920CFDB4-71E5-495F-81B5-7D27AE1CB95D Q33903001-A1716F09-A8CD-46E1-A04F-0F88321A41CD Q33908480-7FF23647-8C62-479C-AE7B-D4A8504B4A51

P2860

A unifying genetic model for facioscapulohumeral muscular dystrophy

http://www.wikidata.org/entity/Q28291033

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

A unifying genetic model for facioscapulohumeral muscular dystrophy

@ast

A unifying genetic model for facioscapulohumeral muscular dystrophy

@en

A unifying genetic model for facioscapulohumeral muscular dystrophy

@nl

type

label

A unifying genetic model for facioscapulohumeral muscular dystrophy

@ast

A unifying genetic model for facioscapulohumeral muscular dystrophy

@en

A unifying genetic model for facioscapulohumeral muscular dystrophy

@nl

prefLabel

A unifying genetic model for facioscapulohumeral muscular dystrophy

@ast

A unifying genetic model for facioscapulohumeral muscular dystrophy

@en

A unifying genetic model for facioscapulohumeral muscular dystrophy

@nl

P1433

Q28291033-84AB9ADB-ADE4-4CA4-B675-4654DE235C01

P1476

Q28291033-FA28D731-2D8C-426F-AEFF-CAF7157A2FEA

P2093

Q28291033-09CBA4F4-F4DF-4000-ABCD-FBC0D1D75D3F

Q28291033-2096CC47-8679-4921-AA86-DB5DC729B41A

Q28291033-4B320D70-44F7-4045-96B5-F630170B7A94

Q28291033-636E6E64-FD23-402D-B9E0-25DE662BE9A0

Q28291033-84D8B703-C6B1-4853-BFDA-E490C7FA576B

Q28291033-911A0917-3C52-41A8-87C8-EDDE741DFCA4

Q28291033-98ABF845-7952-4B70-9A1E-0E096C3FF594

Q28291033-9A9B6C1F-F874-4216-8816-4B241E252FFB

Q28291033-9F03F445-E70A-432C-9B69-BEDC65800B1D

Q28291033-AD14AC86-B9B6-40E5-B7C7-E4A6F79F457A

P2860

Q28291033-0B4BB3D1-84A2-46BC-BC6D-2D70A50023E8

Q28291033-18D41FCE-7742-4B66-B626-DA72872F0841

Q28291033-3288E617-A5B5-4D0D-A498-8081A4FB6AF2

Q28291033-36E25DFD-464F-45F9-95AE-63646199878C

Q28291033-42A09A7C-7256-45F3-A236-D6C42E5050B0

Q28291033-4402D939-96B3-43D6-AC8A-234AA46F5993

Q28291033-475DCBDC-36F1-4C1B-BC0F-AD418D4D1775

Q28291033-517E0ADC-6540-496F-82C9-77FC37510422

Q28291033-64D2FEF5-56F1-4A73-BAA1-69A02FFE4AD1

Q28291033-8744731A-2653-4DDB-A1E5-518F2C6F4904

P304

Q28291033-437C0C8B-FEB0-45E8-BC97-8984424B524D

P31

Q28291033-7E8FA644-3A3E-47A3-A696-4A24AAAFC798

P3181

Q28291033-1255070C-850E-4C3E-AB2E-4CA008DFBDCB

P356

Q28291033-DD6B3DEB-BD4C-4CD7-BCEC-AC0F7811189B

P407

Q28291033-13244EAF-E7C0-4C38-8A1F-BB5DC5C54D16

P433

Q28291033-E0000DE0-A05F-48DD-8137-EA32BA21B967

P478

Q28291033-EC964BBA-35CD-42AF-9421-97587C92F3B0

P50

Q28291033-748E5775-99A3-477B-95C3-43BAFA3430E5

Q28291033-818DF715-9313-4CDB-9958-8CCF0FB8AA6C

Q28291033-C27D5D48-5F94-4AF5-BEA9-A4E10E07E727

Q28291033-D05724EA-CF60-4292-8C3D-7EDE05EF002B

P577

Q28291033-F62763A5-A304-4AF5-8762-1F34D0D1BA94

P5875

Q28291033-8E0E04D8-EC44-49AB-96AE-52878A3D9761

P698

Q28291033-FF228178-8EF7-4D46-BCFA-4C04DC88EC42

P921

Q28291033-7841EB07-735C-485B-B2EB-070D1F3D9449

P932

Q28291033-694046C7-C992-455D-9DCA-3332AF2FCBF2

P3181

P356

SCIENCE.1189044

P1433

P1476

A unifying genetic model for facioscapulohumeral muscular dystrophy

@en

P2093

George W Padberg

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

Gert Jan van Ommen

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

Johannes G Dauwerse

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

Kirsten R Straasheijm

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

Lauren Snider

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

Patrick J van der Vliet

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

Rabi Tawil

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

Richard J L F Lemmers

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

Rinse Klooster

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

Rune R Frants

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

P2860

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

Patterns of variant polyadenylation signal usage in human genes

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Phosphorylation of serine 2 within the RNA polymerase II C-terminal domain couples transcription and 3' end processing

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Inappropriate Gene Activation in FSHD

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

P304

1650-3

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

P31

scholarly article

P3181

1014851

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

P356

10.1126/SCIENCE.1189044

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

P407

P433

5999

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

P478

329

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

P50

Daniel G. Miller

Sabrina Sacconi

Silvère M van der Maarel

P577

2010-09-24T00:00:00Z

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

P5875

45720937

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

P698

20724583

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

P921

facioscapulohumeral muscular dystrophy

P932

4677822

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