Expanding CEP290 mutational spectrum in ciliopathies - Wikidata - wikimedia - TriplyDB

Expanding CEP290 mutational spectrum in ciliopathies

Expanding CEP290 mutational spectrum in ciliopathies

http://www.wikidata.org/entity/Q56771011

about

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Joubert syndrome: congenital cerebellar ataxia with the molar tooth Systemic diseases associated with retinal dystrophies.Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Central retinal preservation in rdAc cats.A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

P2860

Q33919616-5D5898A0-2035-418F-80CD-EEF512DFBE50 Q36585455-3EE7FAB4-2F29-4D54-BBBE-17D1EDD2FDE5 Q37185993-52271CE8-0DD5-4739-B269-A10D7933F4B8 Q37257283-C6AA7030-D477-4008-A869-164B746F9A61 Q38261110-42442545-E69C-4EF9-8C31-E13F4AE13A93 Q42070844-C0DBA557-7F29-4977-8EDE-8FE0F939F292 Q42648973-87E224CC-E9AD-4449-A057-4F1A24406064 Q47706146-BACD699B-F327-41C2-95E9-7EC08EE2A47F Q50253057-7D895401-5D50-42DF-B3D2-2FCB83C3D88D Q51874264-BECA5A6C-F5A0-4F21-8534-713671F62C87 Q52609939-136D9D25-A554-4A76-AEE8-A268EC77944E

P2860

Expanding CEP290 mutational spectrum in ciliopathies

http://www.wikidata.org/entity/Q56771011

description

im Oktober 2009 veröffentlichter wissenschaftlicher Artikel

@de

scientific article published on 01 October 2009

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в жовтні 2009

@uk

name

Expanding CEP290 mutational spectrum in ciliopathies

@en

Expanding CEP290 mutational spectrum in ciliopathies

@nl

type

label

Expanding CEP290 mutational spectrum in ciliopathies

@en

Expanding CEP290 mutational spectrum in ciliopathies

@nl

prefLabel

Expanding CEP290 mutational spectrum in ciliopathies

@en

Expanding CEP290 mutational spectrum in ciliopathies

@nl

P1433

Q56771011-F50029D9-DA8F-4531-BBAA-41AF6E87F8AD

P1476

Q56771011-7251F58E-0512-47C1-A922-0E8F9ACA1475

P2093

Q56771011-01BE2CE4-B0AA-4A6E-8AB8-63251033660A

Q56771011-038F08E3-6BCF-4943-93DF-9BFCFADF78B5

Q56771011-05A30A2B-F837-4E37-880F-A339EA2C28D7

Q56771011-08B1BB6F-5E70-469D-8C55-59BB85D0A6F7

Q56771011-0BBAF882-CDD5-4C77-832E-8BBB1D7BB257

Q56771011-0BECB1B2-5FBC-490E-B1CB-B82A0A972D59

Q56771011-0C5A06CB-3534-4E96-8ED6-AE8EF0AB333A

Q56771011-0F1D0AF4-5907-412E-AC16-4255E5912587

Q56771011-11085A6D-2FD1-4FCD-B4FF-B5529793B610

Q56771011-1579204D-48C1-42EE-8A78-91FBD1998C17

P2860

Q56771011-00578542-C57A-4256-A177-1FD6F9501A48

Q56771011-0B02ED91-518D-4BC0-BBC5-8E8800D3FFC0

Q56771011-21A3705D-AFD7-4106-894D-A5A7DFEB7CCA

Q56771011-2282F010-E528-431F-92A5-428D8F2E2853

Q56771011-2CE7D4BF-D544-4C50-A8D7-81F3D4601813

Q56771011-44977A0D-B704-4FCC-8201-C1BF7A94DAA4

Q56771011-46E357EE-58B2-445A-8431-E85A63E52491

Q56771011-4BAA9BDC-1803-42A8-8531-199F51F42D51

Q56771011-4BF4035F-6E13-4CBF-BC33-58623C5D4E47

Q56771011-4F426EDD-AFC7-46F3-B5C2-6BC5E84F9E66

P304

Q56771011-1C8CEDB3-0802-447F-B9D1-D6459EBC2B72

P31

Q56771011-7F5338B5-D561-4EB9-B942-1260103E7AA1

P356

Q56771011-F4E42F9F-012F-492B-94B6-9C71FF02D5E7

P407

Q56771011-788FC564-97DA-4A5C-9A47-052FB2242E49

P433

Q56771011-1147DD34-7E07-4722-8089-EB6975691C2F

P478

Q56771011-E091A3B6-AB25-4C6E-9F30-C523FD6F44A4

P50

Q56771011-02577B34-D441-4220-99CB-65CACDAC4785

Q56771011-08570DAB-76CF-483D-B649-EDB9CE2A0714

Q56771011-1174A633-E163-4DA4-BB9A-CCC785E5BB63

Q56771011-1750FAE5-E4CB-4CFC-8C62-1A7B8C86D909

Q56771011-1F62E401-A9E0-4A37-9254-7666E7E304EC

Q56771011-1F7BEC69-DE8B-4419-9F71-56CCFACF8C55

Q56771011-20930514-4299-4224-B695-DE25286CF3AF

Q56771011-2C8E5425-E5B6-4AFF-B220-5C020695FD99

Q56771011-34C223DE-BB27-4BCA-9B12-77D677C98418

Q56771011-389C1679-4A1C-46BF-99F7-AEB3C22CDCA5

P577

Q56771011-501C5A7F-3B19-4B1F-A8F2-6B1E4B4CBCE7

P698

Q56771011-85CCE3D7-8EC4-4F06-B904-969762B21600

P932

Q56771011-A54ABD21-2C7A-47E9-BD64-8AB4249ACA80

P356

P1433

American Journal of Medical Genetics

P1476

Expanding CEP290 mutational spectrum in ciliopathies

@en

P2093

A A Al-Tawari

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

A Abdel-Aleem

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

A Adami

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

A Barnicoat

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

A E Clark

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

A Ferlini

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

A Goldstein

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

A M Laverda

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

A Magee

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

A Moreira

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

P2860

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

The Ciliopathies: An Emerging Class of Human Genetic Disorders

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

P304

2173-2180

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

P31

scholarly article

P356

10.1002/AJMG.A.33025

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

P407

P433

10

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

P478

149A

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

P50

Bruno Dallapiccola

Tania Attié-Bitach

Enza Maria Valente

William B. Dobyns

Margherita Cirillo Silengo

Gian Marco Ghiggeri

Vincenzo Leuzzi

Gianluca Caridi

P577

2009-10-01T00:00:00Z

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

P698

19764032

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

P932

4340070

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