CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies - Wikidata - wikimedia - TriplyDB

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

http://www.wikidata.org/entity/Q27301023

about

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis SHG-specificity of cellular Rootletin filaments enables naïve imaging with universal conservation.The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Loss of Mpdz impairs ependymal cell integrity leading to perinatal-onset hydrocephalus in mice.Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina.Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Increased vulnerability of photoreceptors to aberrant splicing highlight the utility of AON-based therapy for CEP290-LCA.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.Primary cilia proteins: ciliary and extraciliary sites and functions.A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.Strain-specific differences in brain gene expression in a hydrocephalic mouse model with motile cilia dysfunction

P2860

Q27343217-4A52DFE4-DD7F-427D-9952-76477543D905 Q28594586-FC25A6C5-F726-48D0-8B70-4E7F61CA223D Q30833933-ADA7F0C1-AF70-4606-A63B-1F256BE156C1 Q33654636-B9B69556-F392-41B7-B690-06D385E1441E Q33863489-ECC1F76B-541E-49BE-B3E0-93BA1B57EBD2 Q37441808-51B6B43B-E7D1-4E1B-8D61-5BDAF7BC7529 Q37588148-9377DA13-75AA-4B0C-A57C-D103883E4C32 Q38857397-88F95914-54BD-47D6-B35F-5395EAF50E4C Q40134387-D18DC5CE-BC7C-478A-B9CB-37DA11D59E10 Q41071768-2EE58B64-5098-40B0-BACE-00DEC6D0997E Q41362538-B47AE9D0-016F-4D2D-AB8B-C7940C791F56 Q42495096-49A48698-C211-47C2-A36A-1C35B4552B31 Q43170505-691502AF-DA0A-4A84-A930-D4904408A30A Q47228439-42BBDF0A-DFF4-42CC-9FB4-21F27C0E08E3 Q47706146-237728FB-4684-483E-BBF7-52C22AAA0BA2 Q51556492-2DCDE12E-5DC0-4D73-8BB1-32008602339D Q52323114-5334A689-B6C2-4D85-85E0-06F09C930F7A Q58761846-485AB0CC-3085-4717-89AB-BC8262A86FB6

P2860

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

http://www.wikidata.org/entity/Q27301023

description

2015 nî lūn-bûn

@nan

2015 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@ast

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@en

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@nl

type

label

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@ast

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@en

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@nl

prefLabel

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@ast

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@en

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@nl

P1433

Q27301023-93BA5E7F-8506-45EC-88D1-FEBDAD2A0AD2

P1476

Q27301023-106AE53E-54E1-43FF-9360-B37A985186B2

P2093

Q27301023-0C06E305-3F1E-4DA7-B571-C252113519EE

Q27301023-3F78CB8A-D237-4E2E-82C6-17833E131F7A

Q27301023-44A0B5F3-254F-4251-984C-FBB004DBCC06

Q27301023-51FC0ED3-F699-4D95-9943-076A543E9ADD

Q27301023-531AF919-EBBB-4B37-87B9-A448246BA551

Q27301023-6F621846-2E9B-46B9-964E-1A772C06F385

Q27301023-8CB063A9-A66D-4AC1-9341-BD646B164A00

Q27301023-DC3D0349-F20F-454C-A9C9-73C402BE5884

Q27301023-E22077CF-76F3-4A1B-A661-EA17B8AA5578

Q27301023-EDC43032-AB1B-45DC-A346-D158D2242AEF

P2860

Q27301023-011BA9C6-9A58-44EE-B8E0-2C175C15BB6D

Q27301023-08EACDCC-D80F-477E-9D6D-A1060F89DE7E

Q27301023-09297D2D-D416-48E9-B9D4-0B6F64D8530E

Q27301023-0A5A7CE5-5F68-436E-AD8B-676382BD49B4

Q27301023-0A79C302-2DD6-4347-982F-80C92C6B0494

Q27301023-0BD19FA6-3241-4BB1-8A8F-947A02AF0D6E

Q27301023-123FA054-37B4-40A2-AA33-369AFA1EA990

Q27301023-16A10D3D-115A-4F53-A809-FCB89B92C30B

Q27301023-171E6678-0065-403C-8354-FB46B68E42EE

Q27301023-1B5AD7D0-A36A-4C0F-AFCB-4B7AB957FA67

P304

Q27301023-B6414E97-F964-4BF0-99FC-BFB57B548862

P31

Q27301023-D9E7C708-B29C-455B-B6B3-3AE88901FE5C

P356

Q27301023-3106944B-99B3-41C3-AD6B-F266D2D9B91D

P407

Q27301023-D93BF2E3-0531-441D-B3FF-CC541291973B

P433

Q27301023-6AE6958A-FE23-4830-B664-71F49C8CA141

P478

Q27301023-4E29B637-446A-4623-963F-5094CCECBAF1

P50

Q27301023-20350266-4503-4CF0-9E71-1517BE067E85

Q27301023-A31211F6-0442-4AF7-A2A9-FCEFF3855506

Q27301023-D08B4183-CF07-45B6-9302-EA062CEF97BD

Q27301023-EC2DAD12-972B-4943-889E-07ACFF825112

P577

Q27301023-8A8216D9-FE2D-47CD-9C7B-E9D7285ACA9F

P698

Q27301023-B480B7E4-4A07-4C4C-A5F2-C3DE9588BB11

P932

Q27301023-EDBFC7D2-1EF3-4A99-801D-345E90416F4C

P356

P1433

Human Molecular Genetics

P1476

CEP290 alleles in mice disrupt ...... ures of syndromic ciliopathies

@en

P2093

Alice N Hackett

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

Erin A Yamamoto

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

Helen L May-Simera

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

Jeeva Munasinghe

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

Katherine Pohida

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

Lijin Dong

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

Mrinal K Dewanjee

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

Norimoto Gotoh

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

Rivka A Rachel

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

Yuri V Sergeev

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

P2860

The Ciliopathies: An Emerging Class of Human Genetic Disorders

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Primary ciliogenesis requires the distal appendage component Cep123.

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis

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

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

P304

3775-91

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

P31

scholarly article

P356

10.1093/HMG/DDV123

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

P407

P433

13

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

P478

24

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

P50

Robert N. Fariss

P577

2015-07-01T00:00:00Z

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

P698

25859007

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

P932

4459394

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