RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins - Wikidata - wikimedia - TriplyDB

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

http://www.wikidata.org/entity/Q24533513

about

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 Association of filamin A and vimentin with hepatitis C virus proteins in infected human hepatocytes The role of RPGR in cilia formation and actin stability The primary cilium as a cellular signaling center: lessons from disease In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse A novel Crumbs3 isoform regulates cell division and ciliogenesis via importin beta interactions RPGRIP1 and cone-rod dystrophy in dogs The Role of RPGR and Its Interacting Proteins in Ciliopathies Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3 The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.Alternative splicing and retinal degeneration The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.Analysis of the Ush2a gene in medaka fish (Oryzias latipes).Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.Molecular studies of phenotype variation in canine RPGR-XLPRA1.

P2860

72d3f76afbbcd76e3b3ddd603ec981fd0c69ba87

P248

Q24304229-AA3912C8-4658-4A06-9924-DA18391B0C97 Q24309344-ED8E1267-AC86-4E0E-A966-04673F19EE16 Q24309499-EE399BDB-4F75-43A9-8C51-3C8F1406E24E Q24316522-1D387AEC-9AAA-4EA1-8AA1-B7EEE49BD563 Q24336477-78C35C0C-F20B-4D13-A160-9F1C570B9AFF Q24337809-3A8C2DC4-F3A6-411F-B69D-3181056D3352 Q24338338-98FAAE75-5FE5-43DB-954D-766B74153E94 Q24632942-7B1D9DCF-55BC-40B3-A72B-4C6A10DF0BCE Q24671808-0F0621A6-52C1-428C-9FA6-8013D3C2B4C7 Q24682354-5100CF90-DCAC-4FF9-9126-9ACA8DA1F6FC Q27023933-2E965F2E-530B-4D78-8CEC-E053E7406DEE Q28081883-59E6C41D-E865-4F62-BA43-4B20AEEAAEA1 Q28114957-E9F0F983-1FC6-4966-82B0-7AC121365452 Q28263322-585F10F1-98F3-4558-87A2-515DA8FC08B3 Q28287923-A55804F9-9D35-4000-A8EE-C4909E42771A Q28512704-200FBA8F-1E78-493C-9181-73E3F27B6A07 Q28592463-41807C3E-3642-4B26-8427-9E42196B1995 Q33291736-6B1E5CFF-66C2-4B59-B197-D4242F134586 Q33654636-AF249954-7407-47C8-BFF6-AB6FFCFCA589 Q33964906-62772023-DEFE-428B-B23C-72609C455C75 Q33999124-8658ED0D-7D60-47DE-9892-4C22226D40E2 Q34029300-264B44BF-71EA-4BEA-A311-8DE4086EF4C0 Q34062166-27FAC230-DFEA-4190-9A6A-CCA8B4F1E855 Q34102442-3400F0E0-36BD-4A21-84B9-B13C6D5B0038 Q34211989-AA9ACCAC-F24D-44C5-9540-EA65BB3A8CCD Q34260042-68338F0D-C80B-4F9D-8895-27B360807B8D Q34702209-EA062EB2-7D3A-4677-98D5-8655EAF7421C Q34994553-62591141-5606-44AA-97F1-9814D097F5E4 Q35005306-F529811E-3F01-4CA4-A8E0-6C33DE060C32 Q35045072-ED5F57B9-7AD3-4B74-A88A-C15D13320143 Q35150162-FDE726DE-7ADE-4A2E-9327-8CA2CF5FF944 Q35228749-846C679D-E84C-4E8C-9E8A-45480DB45B7B Q35751018-3ED41FD9-5F91-4E4C-929D-B1F5F8FFC146 Q36008733-9FB36ADA-810E-4C8B-9677-0ABE6FE7F117 Q36023714-A5FC6F5A-BDD9-4219-9375-C0667258ADBA Q36074134-4DA7081E-043F-4A13-8406-6095FC4CD7C0 Q36299499-EB955BFC-0EB5-4F52-B379-59B0F51DA461 Q36496174-F02C482A-EBD5-44FE-A12D-1BD04E1AE3C8 Q36676811-9551E881-B54F-403B-B0DA-7A9CF629C942 Q36794716-7056A9ED-4114-4825-B65D-AD2FDEDF995F

P2860

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

http://www.wikidata.org/entity/Q24533513

description

2005 nî lūn-bûn

@nan

2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2005年の論文

@ja

2005年学术文章

@wuu

2005年学术文章

@zh-cn

2005年学术文章

@zh-hans

2005年学术文章

@zh-my

2005年学术文章

@zh-sg

2005年學術文章

@yue

name

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@ast

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en-gb

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@nl

type

label

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@ast

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en-gb

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@nl

prefLabel

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@ast

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en-gb

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@nl

P1433

Q24533513-951645B5-18F2-4C65-AF9D-D688B000BB18

P1476

Q24533513-EF92E760-7D5D-4F03-978A-654133B07F1C

P2093

Q24533513-07A7F876-85F8-44E5-90BE-5AFA0FACCF35

Q24533513-0BE68F21-BADC-4391-9EB3-9524FF42729B

Q24533513-311E36DC-C331-45F2-85D7-502D3A7DAB9E

Q24533513-32DABFA4-F4B9-4F0F-B513-1260A42BCCBF

Q24533513-368EDFA8-0A94-4CE2-931E-6E8901DDE3A9

Q24533513-94E1296E-13E8-462F-B5B9-A645745778A1

Q24533513-A7C56458-D215-40CB-ABDF-15B813AB1C73

Q24533513-AC876428-3C96-427E-BB51-BF04B5CC608F

Q24533513-D565B025-ECC8-4E53-A527-85DA2C942B04

P2860

Q24533513-0DBB6C76-9BD5-41D9-AB4F-70488D11FBDF

Q24533513-0EFEC8C6-DF4B-492B-8E53-7DF5063B2F12

Q24533513-0F14416A-D180-45E3-9730-8F5D38768F3E

Q24533513-167241D7-471B-444D-BDE7-DBE287976D33

Q24533513-1954B2E8-6C32-40F4-84DF-03FD3834D5DA

Q24533513-1FDFE479-50B8-438E-9982-A4B776944D5E

Q24533513-25F09DD7-9075-45DC-86B6-E4FE3F5B6905

Q24533513-29F2262D-25BD-4D65-8D40-605F449EE5F1

Q24533513-2B31ADE3-4F59-4B09-84A6-80FBA540DD84

Q24533513-2E944739-BA5B-4909-BA0D-DDD75AE34C51

P304

Q24533513-141B628E-BC27-4139-912E-05442D62D991

P31

Q24533513-DEB33D1E-E4A1-469E-965F-B9CF91770DBC

P3181

Q24533513-BEB945BF-1C31-4D34-B199-681401EB0E69

P356

Q24533513-DD2336F8-D23F-4050-BDB7-9E61EEA79221

P407

Q24533513-E0F60AD1-9960-4A1C-9BAE-E342E427A5C0

P433

Q24533513-A2918DE3-BAA5-4E0F-8C82-898455129D6A

P478

Q24533513-FE5E8B0C-59B1-4E2C-BF68-599DB8C5902C

P50

Q24533513-ACFF83B3-43E7-4784-8B35-BD51BF438742

Q24533513-F13D6A9E-8049-4AAB-A1BB-0A925653A473

P577

Q24533513-D51642C0-62DB-4D0D-9AEE-24896413C5BD

P698

Q24533513-755F4FEE-E933-49DA-8769-554BD1292C7D

P921

Q24533513-772628D2-877C-41F0-8BE9-FD294929F443

Q24533513-7BED20B6-2CC1-45D8-A272-D3BDE945F87A

P932

Q24533513-2B045AC3-A0D6-4E07-B7DB-3CFB9CBB6221

P3181

P356

P1433

Journal of Biological Chemistry

P1476

RPGR-ORF15, which is mutated i ...... microtubule transport proteins

@en

P2093

Alan F Wright

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

Ben Margolis

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

Concepcion Lillo

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

David S Williams

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

Masayuki Akimoto

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

Shirley He

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

Sunil K Parapuram

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

Toby W Hurd

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

Xinhua Shu

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

P2860

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

Direct interaction of two polarity complexes implicated in epithelial tight junction assembly

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

P304

33580-7

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

P31

scholarly article

P3181

3181534

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

P356

10.1074/JBC.M505827200

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

P407

P433

39

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

P478

280

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

P50

P577

2005-09-30T00:00:00Z

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

P698

16043481

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

P921

P932

1249479

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