Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes - Test2 - elhamkhani - TriplyDB

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

http://www.wikidata.org/entity/Q24596441

about

MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes research RNA-Binding Proteins: Splicing Factors and Disease Connecting the speckles: Splicing kinases and their role in tumorigenesis and treatment response In silico tools for splicing defect prediction: a survey from the viewpoint of end users Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model Role of an SNP in Alternative Splicing of Bovine NCF4 and Mastitis Susceptibility Mining Functional Elements in Messenger RNAs: Overview, Challenges, and Perspectives Rethinking gene regulatory networks in light of alternative splicing, intrinsically disordered protein domains, and post-translational modifications An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.ISVASE: identification of sequence variant associated with splicing event using RNA-seq data.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing.Genomic HEXploring allows landscaping of novel potential splicing regulatory elements.Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing.Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations.Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.RNA structure replaces the need for U2AF2 in splicing.Extracting reaction networks from databases-opening Pandora's box.Building robust transcriptomes with master splicing factors In silico prediction of splice-altering single nucleotide variants in the human genome.Identification of small molecule inhibitors of pre-mRNA splicing.Coupling and coordination in gene expression processes with pre-mRNA splicing.Loss of exon identity is a common mechanism of human inherited disease.Mechanisms for U2AF to define 3' splice sites and regulate alternative splicing in the human genome Why Selection Might Be Stronger When Populations Are Small: Intron Size and Density Predict within and between-Species Usage of Exonic Splice Associated cis-Motifs.Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Splicing inhibition of U2AF65 leads to alternative exon skipping.Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.Targeting RNA splicing for disease therapy.A dynamic intron retention program in the mammalian megakaryocyte and erythrocyte lineages Pressure-overload cardiac hypertrophy is associated with distinct alternative splicing due to altered expression of splicing factors.Pre-mRNA splicing in disease and therapeutics.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.The functional consequences of intron retention: alternative splicing coupled to NMD as a regulator of gene expression.Exon identity crisis: disease-causing mutations that disrupt the splicing code.Alternative splicing of DNA damage response genes and gastrointestinal cancers.

P2860

Q26775510-CA93BBC3-CF81-4C03-AFD3-277635911D7D Q26823957-0CD4312F-67A4-4748-8F23-B28DBE2DFC8F Q26824298-FE339F13-AB53-4060-885B-A207D9C06D81 Q26830428-F5FF0F31-9BCA-4CCB-BB33-0083A6BAFC88 Q28477672-7B86DBD0-3804-4479-82B2-12107B5938B4 Q28551125-8EACDF33-B063-4F73-8375-7842283711C7 Q28729893-9A1BFD7E-7FF9-48FB-90AC-77D5CB2B9F47 Q30372664-7583311D-8A53-421B-ACA0-393035964D85 Q30581758-B7F02A29-9BD9-4735-851C-71C488EE3E3E Q33850960-3B84E834-540F-4253-B3D4-7AFE96C5F9D1 Q33906956-44A082B4-3ED2-4AD3-B4A4-C0E481871414 Q33944218-6061AAAF-0ACA-42B6-99B4-4D8439464B61 Q34249488-BC256780-9E2C-4EAD-B93E-B1F94EEC577A Q34253919-AEEE059E-4919-476F-B825-BD9FE785530E Q34429995-485FC90C-1576-452A-A216-996580752EAA Q34461342-DF432536-1465-4E08-965F-3BBD86D8D5A0 Q34480873-12DE5233-2AF7-4F40-9626-4B5F6EC690B1 Q34501702-D19265B0-9EE4-401B-BC75-6024F69BED82 Q34553623-B14271A4-30D9-4208-9E96-5ABA31A54F9C Q34569535-0689A61E-1513-4893-B53C-5A9A6E854065 Q34711972-092BCBDD-403D-47D8-A5F2-04529155C99A Q35301222-C03624F1-57A5-4544-950A-F7DCF83C6C8F Q35381296-6488B083-906D-4CEE-838D-A786877098E5 Q35451644-09782099-2EAC-44E5-9926-DA2B2D4B9F30 Q35600002-8585EA2F-5552-4378-80E8-5FA1CD6BAB43 Q35765125-B9276BBD-8CAD-4A07-9663-EFA9E06AC1AF Q35824538-DC1E668B-09A4-49F3-BA40-88310B61961D Q35892850-F0046E59-2951-445F-92F4-B4E014EC00BE Q35961240-3934381D-BF62-4EF0-8848-CB0BFCF82A46 Q36068422-5DDC44ED-854F-424A-BD3F-83338D0B3EF3 Q36395387-680DDC2C-2AB0-49C1-9789-03B5EA0F60A7 Q36410173-A42AEADB-47E0-4892-A2A3-204E07A3699E Q36780738-EBCE63D2-7C7A-4714-8F71-F4C801B16F8C Q36851409-05C0532E-0418-436B-8B0E-DB0657E6628C Q37532689-35D6DE56-54C0-46C3-B814-7D411E756E18 Q38028093-F5F6798E-0C8C-40E4-BB68-E5942B212B6E Q38079179-C69B88F2-0172-4BA6-A320-F8D6DFD6BBCB Q38172436-32C80440-4776-4F29-B407-1FAC15BA7B0F Q38181233-CC3C8904-6881-4961-ADA4-632392624DEC Q38291477-47F98AC1-B6F9-4A71-B3D6-1F38910FFC90

P2860

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

http://www.wikidata.org/entity/Q24596441

description

2011 nî lūn-bûn

@nan

2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Using positional distribution ...... cessing defects in human genes

@ast

Using positional distribution ...... cessing defects in human genes

@en

Using positional distribution ...... cessing defects in human genes

@nl

type

label

Using positional distribution ...... cessing defects in human genes

@ast

Using positional distribution ...... cessing defects in human genes

@en

Using positional distribution ...... cessing defects in human genes

@nl

prefLabel

Using positional distribution ...... cessing defects in human genes

@ast

Using positional distribution ...... cessing defects in human genes

@en

Using positional distribution ...... cessing defects in human genes

@nl

P1433

Q24596441-7A5FEBCD-E9B3-4A27-86C7-E1E2E2A8D7FF

P1476

Q24596441-6B4534F1-F702-46D8-8576-A9B4ADB86B56

P2093

Q24596441-38B2CB8E-50B2-431C-A905-00381A0F1F12

Q24596441-492BC707-9CAA-4573-9863-3D771C1BF4D8

Q24596441-955FDE7B-9264-4EFA-91E8-EDE33980B71D

Q24596441-F392CC4C-6808-4AC0-9B6B-33C73FD17305

P2860

Q24596441-010A171E-9B1C-457C-89B0-BBB73E510CED

Q24596441-05909078-7A92-4FC4-AF6F-6BA1242497A5

Q24596441-06D881A1-C92F-497B-9B63-3665C30D3CE3

Q24596441-0B41D7D1-ED3A-48F3-88EF-FDFFAFC2A837

Q24596441-0B6F2A70-461A-4F86-A19A-B1537D986844

Q24596441-11E25567-545D-4929-8410-5D291B835605

Q24596441-19D4F300-A433-4F73-9789-CFF29F87251B

Q24596441-1A186285-FF9D-40A1-A659-B53E3B2DE5AE

Q24596441-260BB7BE-D72A-4AB2-BEE7-846D874C3CC8

Q24596441-2A8DD62D-A210-4E1D-966D-D89CB6178D82

P304

Q24596441-BC3522C0-5A42-4020-A358-48122CA3B299

P31

Q24596441-C980E49F-7E3C-459D-B13A-462F679FBD62

P3181

Q24596441-A5CEED6D-1D2D-421B-AD2E-3C749E13BCD4

P356

Q24596441-373F1A92-5C84-4D90-916E-3E0014F17F51

P407

Q24596441-9F0BB29A-BF3E-4651-B93E-816F6828B32A

P433

Q24596441-B1574D47-73ED-4887-9D18-26847C9734B3

P478

Q24596441-4A9AF697-34EA-4139-A65E-A75B64B001AA

P50

Q24596441-80A882C1-F07D-4D49-A0B9-5031AC6F68F6

P577

Q24596441-021DD7B5-A223-4786-8952-992FF87F67A6

P5875

Q24596441-F219798B-F3E0-4852-8AEE-702A70CF85AA

P698

Q24596441-9C7B60DE-9016-4358-A004-CD47F6D79682

P932

Q24596441-52CCCFA1-4AF1-4B37-ABFD-EB56A062149F

P3181

P356

PNAS.1101135108

P1433

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

P1476

Using positional distribution ...... cessing defects in human genes

@en

P2093

Benjamin J Raphael

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

Kian Huat Lim

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

Luciana Ferraris

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

Madeleine E Filloux

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

P2860

Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.

Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing.

The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities

iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution

An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells

Next-generation SELEX identifies sequence and structural determinants of splicing factor binding in human pre-mRNA sequence

Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing

Comprehensive proteomic analysis of the human spliceosome

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

Direct selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigene

P304

11093-8

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

P31

scholarly article

P3181

254206

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

P356

10.1073/PNAS.1101135108

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

P407

P433

27

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

P478

108

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

P50

William G Fairbrother

P577

2011-07-05T00:00:00Z

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

P5875

51230805

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

P698

21685335

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

P932

3131313

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