Deletions of chromosomal regulatory boundaries are associated with congenital disease. - Wikidata - awgldk - TriplyDB

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

http://www.wikidata.org/entity/Q34271260

about

Advances in understanding - genetic basis of intellectual disability Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge HiCPlotter integrates genomic data with interaction matrices.Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)Systematic identification of phenotypically enriched loci using a patient network of genomic disorders Three-dimensional disorganization of the cancer genome occurs coincident with long-range genetic and epigenetic alterations.Fast detection of deletion breakpoints using quantitative PCR A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Genetic, environmental, and epigenetic factors involved in CAKUT.Crossed wires: 3D genome misfolding in human disease.Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.Alterations in Three-Dimensional Organization of the Cancer Genome and Epigenome.When TADs go bad: chromatin structure and nuclear organisation in human disease 3D genomics imposes evolution of the domain model of eukaryotic genome organization.Looking beyond the genes: the role of non-coding variants in human disease.Co-regulation of paralog genes in the three-dimensional chromatin architecture Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.Facultative CTCF sites moderate mammary super-enhancer activity and regulate juxtaposed gene in non-mammary cells.Dosage-sensitive genes in evolution and disease.Topologically-associating domains: gene warehouses adapted to serve transcriptional regulation.The Three-Dimensional Organization of Mammalian Genomes.Conserved non-coding elements: developmental gene regulation meets genome organization.Developmentally regulated higher-order chromatin interactions orchestrate B cell fate commitment.Regulatory variants of FOXG1 in the context of its topological domain organisation.Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.Noncoding copy-number variations are associated with congenital limb malformation.Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.Evolutionary stability of topologically associating domains is associated with conserved gene regulation coTRaCTE predicts co-occurring transcription factors within cell-type specific enhancers

P2860

Q26748977-843AE6CC-6B93-4E7F-A111-139CB32F2CAC Q26770859-09CD1185-2162-477B-810E-92B62801C00C Q28071818-684C394E-91D5-47DA-8A61-BA01E9B4D991 Q30995452-2F962DC0-9447-433A-B35F-7A550596AD8A Q34475839-8A895347-3564-4B4C-9938-A13476ED2918 Q34987350-54DD471F-AA0B-47A2-B1C1-43B07CB855DB Q35585276-047E50E6-0E64-44E9-8D10-46A9290EF002 Q35958674-D3D92B8B-8612-4956-8CC7-A94B490B2B46 Q36959187-82A6E5E9-A030-441F-A85C-93F6AD38B59C Q37217265-38BA1169-EAC4-4F24-ABAE-2BBFDCDE0207 Q37231376-CEB4F88E-E972-4785-9732-51473DE36C17 Q37640927-59548586-E76A-4A32-B942-94BF456E0BAC Q38478012-99EDCCF4-32FA-4F28-B554-05AF7435DFB4 Q38568437-6735EAF0-FE2F-448E-A257-2E2EA90CC485 Q38601706-4020BCD5-0634-4B7A-860B-B31AA94453C8 Q38666005-0CC1E160-9B96-40DB-8219-6A27C00E5227 Q38829665-75E7DACA-EABD-4B78-A434-086EDD5E7040 Q38837419-1E8C0E5F-4BF0-49EC-8050-E04EC2593703 Q38861381-D6AFE5F6-8C55-4C0F-B2F6-3DBFC3CC86ED Q38880251-98A604C9-659E-4230-A7B1-9948469FF64C Q39383182-B50F1E64-BB20-48D4-BCDF-552E61FD8A0E Q40881654-F530DA9D-B69E-438F-8B3A-DE4CC034E288 Q41077858-B9D9F851-CBB3-4F45-93C6-CAE6C231EA5B Q41587750-CD1A78ED-9FA1-41E8-8D79-4FAC8E47D91C Q41769677-924DA863-5A7A-465A-BE31-ACB91B0EFE4A Q46383154-E73F3372-8B0B-43CE-B6C4-D8FA375FDF7D Q47112088-BE6DA7C0-AAAD-4634-8719-76B56D6861E3 Q47140626-B8C57FFF-BDE7-4A71-ACE3-C8783A4AA8C4 Q47229502-D219F8BB-28B0-4CF6-82C4-0B7498008D7F Q47992212-9283CC50-E50A-4AE1-B788-61E325B7B347 Q48266844-D9B6E5B7-D819-4749-A9A5-0B936DE0DACC Q50171852-D9F13972-04E6-4E35-AEBC-577B0E1B5D4C Q50217985-34BBAF9F-7D17-4F65-A055-DC829266672A Q53495549-A11E6BA6-C84A-46FB-9672-A7E2DF3B53F4 Q57629971-D71E6A09-E744-4AA6-8D6D-5490D9F42371 Q58704968-A11CBE0F-D05C-4D78-84B2-AA583BE5FFF9

P2860

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

http://www.wikidata.org/entity/Q34271260

description

2014 nî lūn-bûn

@nan

2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@ast

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@en

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@nl

type

label

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@ast

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@en

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@nl

prefLabel

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@ast

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@en

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@nl

P1433

Q34271260-9653AE5A-984C-4CD7-90FB-D6EFCA945256

P1476

Q34271260-2BC4AAC9-F846-4B40-90BA-296FDBBBBA75

P2093

Q34271260-06F4A0A5-BABD-4F8D-BA1F-E5ECC0DF3504

Q34271260-31C2BAA0-D850-43D4-B3D9-50278FE840CD

Q34271260-58029DB7-31D2-448C-8373-A3A21D0ECF92

Q34271260-714BA6CE-9AAB-4C81-955A-0172A6E3F9C0

Q34271260-74F4D4A9-3528-4266-9A2E-567A5B4220B3

Q34271260-7ACE4896-0A37-43C6-B3F6-8340DBE67A04

Q34271260-8FF13EE7-8B9B-4B07-AD95-4B2B7F46B02D

Q34271260-CB76D2AF-B6E4-41A5-A079-F579AF7EB59B

Q34271260-F3A1E9E8-D6F1-46A4-A560-FE75975CE97C

P2860

Q34271260-0222363D-C7AE-40E4-B9A4-474BC24301CB

Q34271260-06A4BEBC-DA9B-40F1-B146-DE74DCC76823

Q34271260-0C91991D-E96D-47BF-AE14-AF0AE60763D0

Q34271260-12868FD6-A7BC-4545-8CE1-E5EB08D479A3

Q34271260-1928DE19-E7A5-43F3-9FEA-F1A59C797C1E

Q34271260-1A79D968-1F2A-4FA0-9724-B3B0BB39E6B5

Q34271260-1B62DB9C-97F2-44A9-AB6E-C465C71E5529

Q34271260-1C060A57-4177-41F7-925E-0BFE09EBCCC6

Q34271260-1D275373-D61B-47EA-ACEF-D392FF818DF7

Q34271260-25ABB168-F7C7-4E08-B696-CDF38E4ED8BA

P2888

Q34271260-FA318882-1FB9-481A-830D-40B5A3AF511D

P304

Q34271260-05977038-A8A5-48B5-81B3-610DC911C13B

P31

Q34271260-55F0421E-FA8A-4364-9A5A-113C6DB91CE1

P356

Q34271260-D54D6513-016C-487D-BCA8-F926DC108DAD

P433

Q34271260-BBEFC2A4-4387-48EA-A019-BC5B33D6CF3A

P478

Q34271260-8AAB5780-1682-4093-9338-C9E7C8D9D166

P50

Q34271260-3D2DD98B-A38A-43B9-9FA4-7CE100FA6D89

Q34271260-6FDA4F79-9FB6-443D-A053-8E3844A369A0

Q34271260-876F4698-E953-4749-A92E-29264F6E0FFC

Q34271260-8C3C9811-AA41-4189-BD07-FDBB1D3F3AEC

Q34271260-A5765EE7-8BF5-426A-89F4-C85872EED719

Q34271260-AB3D99AA-FA6F-4382-8A08-3267E77C46DE

Q34271260-ADC13762-4B86-4645-BBB0-08A95B911D43

Q34271260-B01A8A61-085D-426A-899F-9C7955E056E1

Q34271260-B9D3E391-74B3-4F50-9977-BDB9484BE980

Q34271260-C9F4BFD9-B524-486C-8900-05CC88D260D3

P577

Q34271260-DF839D50-4E88-4959-8FFF-18E363D12BE1

P5875

Q34271260-19570F46-C82A-4D51-9E56-CD7A81554FD3

P6179

Q34271260-57C4209D-8873-4B68-841B-20F4032EDFA8

P698

Q34271260-B6351239-2F8E-4E06-8DD1-527D9D3E1454

P921

Q34271260-A1DD0885-D867-4F8C-9A8B-02BC3925F53F

P932

Q34271260-FAFC1F06-DC97-4B9A-8A00-B360E67323DB

P356

S13059-014-0423-1

P1433

P1476

Deletions of chromosomal regulatory boundaries are associated with congenital disease.

@en

P2093

Christopher J Mungall

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

Claus-Eric Ott

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

Ho-Ryun Chung

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

Matthew E Hurles

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

Ni Huang

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

Paul N Schofield

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

Sebastian Bauer

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

Stefan Mundlos

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

Suzanna E Lewis

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

P2860

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

An integrated encyclopedia of DNA elements in the human genome

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

The UCSC Genome Browser Database: update 2006

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

DNase-seq: a high-resolution technique for mapping active gene regulatory elements across the genome from mammalian cells

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

FOXG1 is responsible for the congenital variant of Rett syndrome

P2888

s13059-014-0423-1

P304

423

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

P31

scholarly article

P356

10.1186/S13059-014-0423-1

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

P433

9

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

P478

15

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

P50

Melissa Haendel

Malte Spielmann

Sebastian Köhler

Jonas Ibn-Salem

Nicole L Washington

P577

2014-09-04T00:00:00Z

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

P5875

266389599

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

P6179

1012476030

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

P698

25315429

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

P921

P932

4180961

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