CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1 - Wikidata - wikimedia - TriplyDB

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

http://www.wikidata.org/entity/Q24680140

about

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines DIP2 disco-interacting protein 2 homolog A (Drosophila) is a candidate receptor for follistatin-related protein/follistatin-like 1--analysis of their binding with TGF-β superfamily proteins Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis.FRA2A is a CGG repeat expansion associated with silencing of AFF3 Genome-Wide Survey and Analysis of Microsatellite Sequences in Bovid Species.Expression Patterns and Potential Biological Roles of Dip2a.Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.Epigenetics in nucleotide repeat expansion disorders.Instability and chromatin structure of expanded trinucleotide repeats Cigarette smoking and DNA methylation Chromatin remodeling in the noncoding repeat expansion diseases.The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.The evolving genomic landscape of urothelial carcinoma.Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.Rare copy number alterations and copy-neutral loss of heterozygosity revealed in ameloblastomas by high-density whole-genome microarray analysis.Epigenetics, fragile X syndrome and transcriptional therapy.Identification of rare de novo epigenetic variations in congenital disorders.Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

P2860

bae7ab86368a675cb4cfd6303b7ddae432a47171

P248

Q21131974-817A17E8-501F-4F58-BB41-88D616567D6F Q21184030-2CCA8DD2-5B08-432F-AE68-2873C799C91A Q24300552-156C4075-A0A1-441A-9012-F249CF1EF5F8 Q33909576-050CB672-2419-4E0B-BA5A-91A612AB8F6E Q34096808-19F6CE89-8133-4458-BBE1-FB88EC811DA7 Q35156954-2EC4D24A-8F31-4911-932C-ADDA0C5B6628 Q35702703-32C07EC8-D206-4822-8A6E-152EE912C1CA Q35852089-5202E09F-538A-4538-8702-98FD02D621DF Q36016607-A447C6BB-539E-4F82-81C1-9876C49FA3C0 Q36245091-D6FAD010-BEBE-4D4F-AE39-490F0182E789 Q36848454-0742CE32-BD3D-4E24-B878-EAC8839D6904 Q36900707-09663B5D-B261-4428-85E6-535E5D1CDCA1 Q37018646-1FA84172-5EFE-4FDB-AF54-946E84DB867E Q37134343-27C31472-1352-4851-88D7-E0EBCBC7F2DC Q37204533-CC86D860-F7A8-44AB-A2CC-21858D781BE6 Q37273647-CB366684-BBE0-4B4E-88E9-64AFBC244C9A Q39034749-075CDEAB-2146-413C-AB5C-5818BAE0BD3B Q39124491-FED66534-E7DD-4FF2-8719-329C54B41855 Q43002591-67D57FC9-272D-4758-BB9E-AB14791A1866 Q47351608-4BC21B4B-4BF6-44F0-A4BE-E75727443A21 Q53006285-C19E1D47-ECC3-4325-8714-892900C07C90 Q54765415-E44EFDE1-8934-46CA-A823-2F4C611A5E40 Q55259551-7F68F00B-14BE-4271-910D-64F385FE405E Q55271983-3D978727-8833-438F-9525-3D27D447B447

P2860

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

http://www.wikidata.org/entity/Q24680140

description

2007 nî lūn-bûn

@nan

2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2007年の論文

@ja

2007年論文

@yue

2007年論文

@zh-hant

2007年論文

@zh-hk

2007年論文

@zh-mo

2007年論文

@zh-tw

2007年论文

@wuu

name

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@ast

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@en

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@nl

type

label

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@ast

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@en

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@nl

prefLabel

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@ast

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@en

CGG-repeat expansion in the DI ...... e FRA12A on chromosome 12q13.1

@nl

P1433

Q24680140-CA7C28DE-A8C2-45A6-AC40-9005D6523C26

P1476

Q24680140-59D61D33-01F6-43FE-99AA-83220C8E1A37

P2093

Q24680140-1F34BB05-CAD9-417F-84C2-5E1B9FC7CA1E

Q24680140-6027AAED-0DB1-4AB4-8574-9A2135B56A5E

Q24680140-7B936E85-1C79-4E5E-8452-48AA180CCC6D

Q24680140-806B2931-CB40-4266-8051-13B4CE78CECB

Q24680140-EC9E7897-1CBF-4053-9BD3-DEB0D7F03085

P2860

Q24680140-00A2AF67-7E78-4B3E-97D6-078F3BCA6EAB

Q24680140-14BBE7E5-93BE-445C-985C-86F924929C39

Q24680140-1646660D-159A-432C-A7B5-05C5975F0AF4

Q24680140-200DAB5D-D764-438A-B9A8-EA194063D712

Q24680140-2203823A-02F0-492B-BABB-CDD55AC14158

Q24680140-22749481-BE83-40FC-8764-BEBF39F567CF

Q24680140-25DCA4F6-4F5A-407B-9513-D5C4AF4F2A41

Q24680140-2722331A-A4BA-4481-9D72-FE88D8002865

Q24680140-2788BDFF-ECF6-40CC-B08F-11D42D5D266A

Q24680140-2A8F5084-79D4-418B-AA9D-4C5743A9956D

P304

Q24680140-0C576485-99A4-4A86-91DA-F4B5DF2C0D25

P31

Q24680140-C64C1134-482A-4E70-9833-235B8EBDF58C

P356

Q24680140-4FE02D4B-A813-4D77-89AF-B1EFE25FFB68

P407

Q24680140-C18F42FE-4CD6-4AE9-A1EE-DC64CC83E333

P433

Q24680140-C3FA6E9D-08F5-4C77-B7C8-EC6B0D723C36

P478

Q24680140-470535F0-7AA4-43CF-89FE-5DE4D5302CC7

P50

Q24680140-F65662CF-C1FA-493D-8EE9-C60AB6AE3F37

Q24680140-F7E23D38-6A18-4B76-8A9E-E15D1F2A0636

P577

Q24680140-0127C39C-356B-4086-A689-9D89D9634D1B

P5875

Q24680140-D0CE912E-EDC1-4DA7-A645-3673BD028968

P698

Q24680140-28BEC38A-8D0E-4D65-9347-D1E1F8612A18

P932

Q24680140-3D2E4502-32B2-4E83-AA5A-F1E52E0E47A8

P356

P1433

American Journal of Human Genetics

P1476

CGG-repeat expansion in the DI ...... FRA12A on chromosome 12q13.1.

@en

P2093

Arie Smits

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

Birgitta Winnepenninckx

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

Dominique Smeets

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

Jacqueline Ramsay

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

Kim Debacker

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

P2860

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

DNA methylation patterns and epigenetic memory

DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci

The Ski protein family is required for MeCP2-mediated transcriptional repression

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

Isolation and characterization of the cDNA encoding human DNA methyltransferase

The fundamental role of epigenetic events in cancer

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

P304

221-231

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

P31

scholarly article

P356

10.1086/510800

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

P407

P433

2

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

P478

80

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

P50

David R. FitzPatrick

P577

2006-12-12T00:00:00Z

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

P5875

6566941

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

P698

17236128

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

P932

1785358

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