Killing the messenger: new insights into nonsense-mediated mRNA decay. - Wikidata - awgldk - TriplyDB

Killing the messenger: new insights into nonsense-mediated mRNA decay.

Killing the messenger: new insights into nonsense-mediated mRNA decay.

http://www.wikidata.org/entity/Q34487265

about

PAX6 gene variations associated with aniridia in south India RPS19 mutations in patients with Diamond-Blackfan anemia Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia Alternatively spliced isoforms of the human constitutive androstane receptor PAX6 mutations: genotype-phenotype correlations Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase.Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).Transcription factor haploinsufficiency: when half a loaf is not enough.COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.Human sex hormone-binding globulin variants associated with hyperandrogenism and ovarian dysfunction.Genotype/phenotype association in Indian congenital aniridia.Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta Specific correction of a splice defect in brain by nutritional supplementation.PAX6 and congenital eye malformations.No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations.Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.Human SNPs resulting in premature stop codons and protein truncation.Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.Oxidative DNA damage and its repair in rat spleen following subchronic exposure to aniline Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)B-cell and T-cell epitopes in anti-factor VIII immune responses.PAX6 aniridia and interhemispheric brain anomalies.Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.Clinical and molecular aspects of aniridia.Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.Genetics of hypertrophic cardiomyopathy: A review of current state.Functional cooperation between human adenovirus type 5 early region 4, open reading frame 6 protein, and cellular homeobox protein HoxB7.Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.Cloning of the papaya chromoplast-specific lycopene beta-cyclase, CpCYC-b, controlling fruit flesh color reveals conserved microsynteny and a recombination hot spot.

P2860

Q21261462-F95B412D-9B4C-425E-8214-D2615165D3D4 Q24321535-52736F7D-E64F-42FA-A1DF-5FC1ACE30590 Q24655796-276F8D0D-887D-40DD-B7D7-C3E4690A5FD3 Q24679627-AE6AD099-8420-4642-94E0-D450DFF87755 Q24810863-ACB1B1ED-4348-4D7D-9F66-90352FAF9A81 Q28248837-CFB1DB49-8337-4989-A4FC-14E9DB9EFD55 Q28586510-BC525691-7018-4BFF-B2B9-D449526AA5DD Q31140072-97823850-636F-4609-8C55-E966A3942EDD Q33248078-1EC9EA57-B66B-42D2-A84F-C0F94033C3E1 Q33930343-019F5CDE-C30C-4BFB-9482-31BBEAB90EAD Q34333374-4A860441-82BA-4EC3-B7A9-89C403DE5653 Q34537849-FA4D3E1B-573A-40D2-952A-AC221F979946 Q34614928-E3457400-C39C-417B-BCFB-99DABEB9DABA Q34790288-9EE69930-EA92-40AD-9AE6-334BC2BF5042 Q34977570-2C5D3234-69E5-40AD-8489-83D903B688A3 Q35207629-81DCEF4D-5F59-4AD2-85A8-829823BE1FB4 Q35288257-38AEF5F2-9364-4792-A021-7396BDDC2C96 Q35560939-55BFCAB9-3BD1-4A32-9C6C-96477FEF0856 Q35855342-BCF9D290-083E-4C00-BFDD-DA75085AA05F Q36359516-CB89522F-1802-4845-A2DF-C90A0501FB82 Q36405307-963C872D-FB50-4226-9057-6F53B246F28B Q36473963-2A79021A-9C31-4BE8-9E15-6C427417AD0F Q36784566-8C36F846-3119-4734-A730-F8380D2CBDA9 Q36839043-F4D9F464-80C5-41B1-B0AD-275B190F7B92 Q36844127-F45C2898-E46F-4573-B1D2-1147EEB8BD9E Q37037621-6CB5D597-9D70-4204-A277-00EDEB7F9BFB Q37368007-7587956B-E29B-4A7A-B276-9E409DCFDDF0 Q37382199-AF379DA9-48AF-40EA-A3D8-4B4D5747231F Q37395106-A45C4DF0-61CD-42A6-8954-2A6044DB4CBC Q37441595-3C3CBECD-3202-413F-B881-AFE8E03FD2D9 Q37687477-51E96D28-5703-467C-B770-103C336F520D Q38341944-E8982640-7C13-40AE-895F-2062C1CA3A26 Q38736063-CF69C668-EAD4-4B96-A90A-7ADF90D04802 Q39354514-D279F74D-B413-4009-9D20-FB5575910A56 Q40301932-C6A027AD-FF29-4367-A19D-CFF24E92CF6E Q40379554-C1D09AF1-0887-48B1-B6F0-E14FCBA0892B Q40718948-68A403FE-5CAF-41E9-9F88-707165D3D0BD Q41898308-57166A06-449C-40BA-827B-4F19121FF7A6 Q42742478-5F8B7E78-4BD7-48EB-8FB6-4CFFF8F25E9F Q43150998-3CAEC892-EE55-456C-83BF-37AED45ACAC9

P2860

Killing the messenger: new insights into nonsense-mediated mRNA decay.

http://www.wikidata.org/entity/Q34487265

description

2002 nî lūn-bûn

@nan

2002 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

name

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@ast

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@en

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@nl

type

label

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@ast

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@en

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@nl

prefLabel

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@ast

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@en

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@nl

P1433

Q34487265-7BD872A7-4578-4BF4-AD73-796BF6BD6F94

P1476

Q34487265-44194921-4461-4047-9401-83659AE643CA

P2093

Q34487265-389ACE85-AFDE-4AA7-86F7-4338A951FE7A

P2860

Q34487265-0806D27B-70C4-43E9-B59E-95A664C3C7D2

Q34487265-11EDFB3C-F9A0-484F-B73F-03F3C6798926

Q34487265-19F06E72-4EFB-4F6D-9134-3FF0A9A65E10

Q34487265-2CA8F5F6-2770-478F-BDF7-DA9F2CC576AF

Q34487265-485BF668-6D17-423A-99AA-C526EFECEF6F

Q34487265-495F292F-EA1D-44F9-A021-B0A807BA5EA2

Q34487265-4C93834C-7F64-4243-9459-FEF19361F388

Q34487265-4ECD05FF-2E8A-4B01-B8E0-44A4EEA1433B

Q34487265-5B85D40E-623D-476C-82EF-CD097F5CD9F6

Q34487265-83B13F7B-124A-451B-92D2-D42387103ACD

P304

Q34487265-0327B53C-0170-4306-8319-CA363B1A2798

P31

Q34487265-56AB407B-E0C1-4ACE-9DBC-AF242E6260F1

P356

Q34487265-FE0D6C01-6E85-4831-BC19-910CFB55E922

P407

Q34487265-77CE0D87-C5D7-4C3A-9F96-0CDC6F104250

P433

Q34487265-CA7752C1-B41F-45DF-88FA-3F779F948618

P478

Q34487265-563DF925-DBDA-41EB-917A-EE5D77A04F18

P577

Q34487265-7016114E-0695-49BA-860E-9D37859E2C08

P698

Q34487265-5BAE6183-8E6D-4B32-8611-131CFF2F299D

P932

Q34487265-143B5E8C-9286-468C-BC33-7E9873CB7181

P356

P1433

Journal of Clinical Investigation

P1476

Killing the messenger: new insights into nonsense-mediated mRNA decay.

@en

P2093

Peter H Byers

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

P2860

Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay.

Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm

Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

A coactivator of pre-mRNA splicing

Purification and characterization of human RNPS1: a general activator of pre-mRNA splicing

Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon-exon junction complex.

The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions

The acute myeloid leukemia-associated protein, DEK, forms a splicing-dependent interaction with exon-product complexes

P304

3-6

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

P31

scholarly article

P356

10.1172/JCI0214841

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

P407

P433

1

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

P478

109

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

P577

2002-01-01T00:00:00Z

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

P698

11781342

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

P932

150830

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