RPGR-associated retinal degeneration in human X-linked RP and a murine model. - Wikidata - awgldk - TriplyDB

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

http://www.wikidata.org/entity/Q36173078

about

Biology and therapy of inherited retinal degenerative disease: insights from mouse models Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Gene and cell-based therapies for inherited retinal disorders: An update.Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Gene therapy and genome surgery in the retina.RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry.Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry-Derived Metrics in RPGR-Associated Retinopathy.

P2860

Q28084726-2A7CD707-DE45-4835-9C04-972B0F712E91 Q34427583-D0CF10E0-E1BD-4B33-A60C-C572992B8A73 Q34497784-B2AFFD45-F112-4493-897F-9A7A54550A21 Q35045072-34463F05-5A57-4F52-9186-B05CB3F0FDC9 Q35132187-E2A5757D-D211-4069-8124-9E8B232BD26C Q35766381-E26D8F91-E720-4AFE-9158-4BF97A143EFC Q36008733-349C8F7C-ADD1-4B5F-989C-3CFB7772EE7C Q36074134-17ECF156-812C-4B2B-897B-FF9AFA8B5A95 Q36086392-03CC90A7-AC28-4AB6-A38D-A392F3DF66FC Q36585455-67983563-7A7D-47C9-A3F3-68B16101F70F Q36635482-3C86703C-0C09-48A6-B50F-58259A18F77C Q36683606-45D2ADF3-E432-4E0B-8B1E-1128D3621309 Q36890858-48DBB8A6-FC0D-4E1A-B446-FBE2CDE7BBAC Q37336144-174F233D-276C-4FC1-83FA-486A0EB558E9 Q38722345-092D500E-C7BB-466B-8C76-F22CD2B7E22C Q38801986-6E65B63E-E390-4F3E-A3B8-01E070F9CD78 Q39013159-E828D5B5-FC21-4C02-8A53-C400F85695FA Q41436375-981AB0BB-6BD3-4604-A7E5-29EC5063397D Q45864431-D4E5A7C5-5642-4CEB-B661-476255EF403A Q54310386-A5922650-E631-4CD4-9DFF-2C961EFE7728 Q54977409-A40797F0-8A6F-468B-A027-405C30D47BB9 Q55100657-F9AA9452-A79E-4852-9EA2-50A27DA49DEC Q55114372-65A4661B-52F5-443D-BE53-47D9DACA22E9

P2860

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

http://www.wikidata.org/entity/Q36173078

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

2012年论文

@zh

2012年论文

@zh-cn

name

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@ast

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@en

type

label

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@ast

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@en

prefLabel

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@ast

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@en

P1433

Q36173078-691D08D4-1103-4A58-8C4C-F6B3B88B8FE6

P1476

Q36173078-51B9B39A-00D4-454D-A408-14779EF266AE

P2093

Q36173078-5A42C413-5995-4BB5-A548-0AF11723C9C8

Q36173078-5DEAB2DF-D4E2-43F5-BB1D-C1850FAE172D

Q36173078-6CC1744A-E7E6-45BB-BF3F-D75A85A457CD

Q36173078-792B9894-FEB9-4C85-BCD4-5B720FA21B98

Q36173078-9C29FB3B-88B6-4829-8553-322F11422BB5

Q36173078-B7BF12F5-CF70-475C-8B26-37D4F11D9A03

Q36173078-BF7A97D4-FC3F-4688-B3A5-EB622A0D426B

Q36173078-C9C53066-CD6D-46DB-AF3B-D516853E6551

Q36173078-FA6AD43E-853D-43BD-9208-4A5F767BC15A

P2860

Q36173078-050D6F80-FE64-4A0B-A4C8-FE1BE30D5FCF

Q36173078-0F2D41E5-EE1E-4257-898B-4EAB422A5313

Q36173078-1547C2EC-2265-4DAA-8601-75860DE9CB02

Q36173078-158F090B-6AA6-4B20-A9E3-6F216A0A163D

Q36173078-227E3E1F-9F89-474F-9699-16CB8AC50564

Q36173078-2486FBC3-9D42-49DA-BA7C-A3617DF17A5A

Q36173078-29D2DA1B-378E-4518-85B3-C4A86FCB5CAE

Q36173078-2A9EC6E3-A05D-4A47-9A5D-2C85B7034144

Q36173078-2B7AFF79-88CC-4534-BAE8-879334BDCA01

Q36173078-3C8E987A-BB01-4912-BF30-C4B954195B83

P304

Q36173078-A79E8DD7-1A0C-4088-A15F-80CC4769ECB4

P31

Q36173078-6F72465F-626E-493B-B6B0-8FB8BE930A21

P356

Q36173078-42D5F90D-59AF-45DD-B70E-E3025A6E0D7D

P407

Q36173078-F60A6519-EEF5-4A9C-ACE4-E2A220C47F79

P433

Q36173078-A5DC5C3A-B188-4B35-B456-C4ED1B9A52F8

P478

Q36173078-07B85206-8667-4CBF-B0BE-208BEE14FEA7

P50

Q36173078-419420A5-2B56-478F-B157-765BDEF6CF60

Q36173078-514802EE-20A9-4B97-9CFE-F00A8581DFEB

Q36173078-B4BF2925-A371-4224-B5D0-6229E9106FE8

Q36173078-DEAB5F1B-6808-444A-AD15-FC7E3F3C884C

P577

Q36173078-F519A5E1-8F51-4E27-A6EC-7203B833E5E3

P5875

Q36173078-7A623F30-FA92-473A-B26A-34BBB61D81DD

P698

Q36173078-04F7CD2B-C7FB-4B64-B19C-D90672626C4B

P932

Q36173078-E9C000B7-349A-4B58-AD37-3F13B5A6C07B

P356

P1433

Investigative Ophthalmology & Visual Science

P1476

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

@en

P2093

Alan F Wright

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

Alejandro J Roman

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

Artur V Cideciyan

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

Dina Y Gewaily

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

Maria P Limberis

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

Peter Bell

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

Sam Sadigh

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

Sharon B Schwartz

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

Wei Chieh Huang

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

P2860

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

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Retinal degeneration mutants in the mouse

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

Spectral domain optical coherence tomography in mouse models of retinal degeneration.

X-linked retinitis pigmentosa.

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

P304

5594-5608

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

P31

scholarly article

P356

10.1167/IOVS.12-10070

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

P407

P433

9

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

P478

53

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

P50

Samuel G. Jacobson

P577

2012-08-15T00:00:00Z

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

P5875

229161374

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

P698

22807293

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

P932

3422104

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