Positional cloning of the gene for X-linked retinitis pigmentosa 2 - Wikidata - wikimedia - TriplyDB

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Positional cloning of the gene for X-linked retinitis pigmentosa 2

http://www.wikidata.org/entity/Q24322014

about

Hot L1s account for the bulk of retrotransposition in the human population The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3 RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31 Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa Mutations in NYX of individuals with high myopia, but without night blindness Nme protein family evolutionary history, a vertebrate perspective Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.An important role for RUNX3 in human L1 transcription and retrotransposition All APOBEC3 family proteins differentially inhibit LINE-1 retrotransposition Domain analysis of the tubulin cofactor system: a model for tubulin folding and dimerization L1 retrotransposon-mediated stable gene silencing A potential role for RNA interference in controlling the activity of the human LINE-1 retrotransposon Roles for retrotransposon insertions in human disease Retinal dystrophies, genomic applications in diagnosis and prospects for therapy The role of primary cilia in the development and disease of the retina Rab and Arf proteins in genetic diseases Human transposon tectonics The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued)Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development 5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation Activation of individual L1 retrotransposon instances is restricted to cell-type dependent permissive loci LINE-1 elements in structural variation and disease Reviving the dead: history and reactivation of an extinct l1 Mutagenesis in rodents using the L1 retrotransposon

P2860

8f36fe32b688c7bc922a4f6702ad2b1d70b89b5f 9f6a7950f85d0d92a4dfba5e0d30063049744f88 e963c5a8406a46fb933d289a9250b7bff89a244c

P248

Q22066292-12E7AEFF-6B59-41BC-9E5B-10B157666282 Q24297630-8667E916-BA12-44D0-ADDD-59782988AA1B Q24298355-3FEF0981-5E12-41A1-B683-2B2554578E4B Q24300196-30047E83-0245-47E7-971A-C7686393ED51 Q24302179-597FBC6B-1C8F-4FCD-B517-F0EA8846A227 Q24315798-8C73051E-906B-4106-A99B-9ACD9CF26C04 Q24532214-E73DE652-BCBC-4F0A-8221-ED234F7666F1 Q24533348-2B6F8037-0EF5-4508-B818-546D1BD82B7C Q24540164-440BC01A-DDA4-4D5F-AE10-C303ADAD861A Q24568378-03E372A1-93AD-4064-AC48-8746F9CA8424 Q24612935-00F63A96-2CB8-409E-9119-4047345723DD Q24653288-6CECBDAB-3265-4B82-BF77-C3B1992222FF Q24656606-A12AF697-4396-4E90-80B4-4A188E1D7AF5 Q24658146-A57997E6-9F73-4C32-91E6-038B7573CF27 Q24670621-FE83F89C-E7E8-4D90-B7A1-DCA47B0CD4C7 Q24675735-5039FDC1-117A-466F-9487-F7A675915B02 Q24793246-225B741B-1256-42AC-9B50-118836CF28AF Q24806000-2069B147-7C74-449D-94FF-EF0F71386E31 Q24807347-4180931A-7185-49E8-9449-5CF5E95D03D6 Q26751314-DEB68144-9054-4A47-B1F4-37CEF44F1063 Q26770321-173A9977-C4E1-4B12-BD76-A1F934823F07 Q26822720-BFEF96AA-2143-4221-BA23-4AEA75047684 Q26862704-83DB3863-6E4E-45B8-9276-8E6ED4165052 Q27010001-5FAB62B8-3213-4C46-A7F2-80050C56EDE8 Q27012919-B578C9C7-7DD5-41FA-B148-571A68E8720D Q28000044-E03DB776-3539-4FCF-94C2-06D4DE1D2699 Q28114957-BF89C588-50BE-4435-88E4-93B494F3DC94 Q28115739-F52B664A-FD75-428D-9D6B-93E5C13CA3A1 Q28118878-A4AE2779-FF17-44A9-80A9-7752B1F2D153 Q28145835-D7B367DE-50F0-4688-9FAF-8BCBB6642836 Q28207567-521EF717-F4AF-4903-8D6B-13F5CD91F880 Q28267539-FFFF7D3E-5F42-4A74-A3DB-B7AF45BCA509 Q28286831-16C23FEB-63DD-4454-A8AD-9127DF5BCB4C Q28292199-94BFA6E1-2E15-45C3-A021-1A1C07B5F16E Q28512728-37EBED8E-091B-4720-9E67-0B5FCBB26BB9 Q28541438-E2033812-BBF0-464F-8954-A6623C8F9634 Q28602786-918535BE-7A7B-42AB-88BA-4B9EC3316BAC Q28654758-297AAB21-ED7B-4C34-A2B5-38C74C734158 Q28657439-9BFC13A8-4230-479A-8614-86E7A70F613C Q28756512-DA3C362B-C38D-4160-AAE0-F3634297B89D

P2860

Positional cloning of the gene for X-linked retinitis pigmentosa 2

http://www.wikidata.org/entity/Q24322014

description

1998 nî lūn-bûn

@nan

1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@ast

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en-gb

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@nl

type

label

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@ast

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en-gb

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@nl

prefLabel

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@ast

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en-gb

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@nl

P1433

Q24322014-F8DAD6A9-DFA0-4317-9235-1281B68B4BC3

P1476

Q24322014-233395C0-505E-4746-8821-67AF49F43BAC

P2093

Q24322014-0D971F77-98BD-471F-B2FD-D6C112783977

Q24322014-1001F8C3-1DA8-4EFF-807A-4F51164E1621

Q24322014-13F049AA-A799-4216-BE6C-5B5C571B72D8

Q24322014-2CFB4BB0-7D76-45D5-9A3E-66AC1CAAEB73

Q24322014-5648CCBA-FD75-4D43-AC60-067FC6D17D14

Q24322014-62A6D4E2-9F16-4D77-8CB3-8C7DB8F83DB6

Q24322014-654CFF69-A602-4F8C-ABEA-AF37B99E7550

Q24322014-67249380-0997-4BE9-AC50-E817E1BC4920

Q24322014-8062FB99-9EE3-472D-9D0B-5C8E48BBA8E1

Q24322014-882BFC2C-1DE4-415A-8E9C-1C63C87904F7

P2888

Q24322014-DDBC11DE-F676-4712-AB64-DA8874DF4324

P304

Q24322014-15160DED-C163-4C7A-8F75-2530E29E2472

P31

Q24322014-58A4F4D8-E861-42C2-99EA-2D8A30FB7AB6

P3181

Q24322014-FED63CF2-8C95-4AF2-BDD6-8EF580ED3EF3

P356

Q24322014-0AEA671B-8A19-48E3-9C7F-C488D82F1D6F

P407

Q24322014-DE9879FD-52EC-426D-8B08-9764454B20B0

P433

Q24322014-3D3CD9E2-6F67-4A25-8B96-FBEEDB4FC6EB

P478

Q24322014-5FE7E0D2-4B5D-4269-B306-5F4A32E71FB3

P577

Q24322014-4A05C892-CE7C-43CF-A877-840ACB980086

P5875

Q24322014-62CC394D-7B35-48C1-B5DD-ED4C01AC7C91

P6179

Q24322014-AB48E7CD-BE33-4DA0-BF9C-977C4A1B7D53

P698

Q24322014-BD53F98C-0B7A-4598-AAE5-3D7A74094F2D

P921

Q24322014-4C9A8161-B248-4692-9DF3-6D792EEDC8A4

Q24322014-DF57457C-43C3-4F6D-B12D-AEDF6688F569

P3181

P356

P1433

Nature Genetics

P1476

Positional cloning of the gene for X-linked retinitis pigmentosa 2

@en

P2093

A A Bergen

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

A J Pinckers

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

A Rosenthal

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

B Hinzmann

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

F P Cremers

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

G van Duijnhoven

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

H H Ropers

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

J Dong

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

M Hemberger

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

R Fundele

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

P2888

P304

327-32

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

P31

scholarly article

P3181

1804054

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

P356

10.1038/1214

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

P407

P433

4

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

P478

19

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

P577

1998-08-01T00:00:00Z

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

P5875

13586962

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

P6179

1037294422

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

P698

9697692

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

P921

unfolded protein binding

RP2 activator of ARL3 GTPase