Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24302034

about

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling TCTN3 mutations cause Mohr-Majewski syndrome Primary ciliogenesis requires the distal appendage component Cep123.A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone Mutation of POC1B in a severe syndromic retinal ciliopathy 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 DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling BBS mutations modify phenotypic expression of CEP290-related ciliopathies Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans Casein kinase 1δ functions at the centrosome and Golgi to promote ciliogenesis CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment The cilia-regulated proteasome and its role in the development of ciliopathies and cancer Photoreceptor Sensory Cilium: Traversing the Ciliary Gate Molecular basis of cleft palates in mice The role of primary cilia in the development and disease of the retina ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization Cilia functions in development Smelling the roses and seeing the light: gene therapy for ciliopathies Congenital heart disease: emerging themes linking genetics and development The awesome power of dikaryons for studying flagella and basal bodies in Chlamydomonas reinhardtii Molecular complexes that direct rhodopsin transport to primary cilia Ciliary subcompartments: how are they established and what are their functions?Primary cilia in the developing and mature brain Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease Scrutinizing ciliopathies by unraveling ciliary interaction networks The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

P2860

093c79936cb4f368c80e6fafe5246b03ef811f2c 0b5415c6bddc7c757753a3d9c5869f3fae141aed 186818b83738a47f4b8fef0d7603ddb850b01248 1b4cfd1b233ceaa3a65e187324a62e12b02ea83e 1ef3fd3a5fb2265b61a8e0a12dbdbbfda9e379f8 208a80c9c856065b8e1b3a73517a9ff54821f1ea 235a1bc79160f44ca95ba706824c1abd292cb492 2d0fbd9bfc5e197b6fc51c130da02e7745c31499 33762929036ee2e3180427b01cd5a48d1f3822ba 3b45b0f9344b8e356c33884ae3c759ec701539a1 3b7178799233de74ac632672a84a1d6ca86a7ede 44c485f3b1a3b57f0bae2c7e2c8ab16bedc7e4aa 45b202052f51eccac75f6da8f9d5ba53157737f0 45eb0b5493cdf616bd45c6952958c95af8d754a1 473010656568cd44d1a893a6701e8b025b51dc64 4a6a28d71865650241be0b8210d6f132004469bc 4ccaa2037726b5126cdf5da5199b1804f39aa6c7 4e1a72da29c725ba9d5652010b73eff5414c154c 54481dff32e5df324e020a1a298c89f319d6ae6e 654bf902270990965a9f77182134f951cbf89821 759aca347a89ce28287f4a2a5bd867cc6e77de2e 75c55fe6e441e9409bdab6102517156b6bc8443d 9322012bd3ea63a89f3dda9e45a3a140f7f3ac7f 99f11e73a4bd4e638621ee598f92d15283e51cd7 a8d32b5f29e1c4fff71be9335a7f4e142802f77e aaf9ba792ef4245d4b3422220620e9a59e1bc32d b00c0e74a44cc021f9d41971b8fc3d6a3997a5ff b446d659a45654e48fe8fec9427de57d18f0ffa3 b912275a01fdad3e0a5bdc00b96574dfd779707a c7cec2445dd4a7c1f36fad4f2bc76538198b9889 cb2d5b50626fb5027e76456865e732e12189027a d54637dd8aacd7affdc421a05044509a4e0cde29 d990037e85725f894ecd3f0ecdf6d6ffc561357e db39dc5b9eaef44b13c94a24dddb504c806b0da9 e0961fc52ad98316b8a8bab614ae977e6b1f118d e23c9f9cbd6cf25f71309bff8a87f6dfcd89f633 e3914615bb09469e39e489c6f501a8c4deb71cfa ea633a180f5ebf8ff010ceb10850917fc61a8876 ea834e0509b825498e28ba519123a9df9f72af24

P248

Q24294774-89FD95CF-C0B2-42AE-AA45-A69CA42B17EC Q24295300-ADC21136-3F71-4B6B-8B76-F87BE8100B1E Q24296378-69D1D35B-D041-4B18-96DA-5A432F559E01 Q24296671-1CA5BDF8-7EB7-48A2-B1B3-C6C6919FAA5C Q24297497-F52E0CAD-66CB-433E-872F-17AE7BC59A3D Q24299114-8F363179-0E2B-45E2-90C5-61846C92164B Q24301100-DF051BC8-9580-48D5-903D-5467C09C476C Q24303418-B3CAF29D-F48F-40A4-B89A-18844556CD06 Q24309344-91E57BA1-8B78-46ED-98D4-764E08BF0435 Q24311957-0AAAAFF1-626F-4937-9964-832E72B57B5D Q24317466-336A6044-36AA-4D7A-BEC8-DD4422129209 Q24336897-1C288670-5234-4059-B70E-C684CFFFE24C Q24337670-13703D33-9749-40F9-A13F-053D6223C604 Q24337792-48CB0A06-116C-4244-B71A-EF47B2FB89FD Q24338335-3CEB6867-6EEF-46B0-AD49-D67E755FFB64 Q24338649-208BA61A-A026-44F8-AC7B-EA5EAC1A97DF Q24339426-8B909533-3722-4FD1-8678-5279E5444B4C Q24339550-3A831170-7E75-4D7D-A062-8ECF4A137099 Q24614447-9F056052-8A9D-4EB8-9319-919E9A275863 Q26746930-4712C72D-664E-4C3F-AC3B-B039B3321553 Q26778955-567D9702-E54A-4A4A-85A9-B469381C0469 Q26795762-1DC6DA1C-2447-4C5D-978F-C734A6D48949 Q26822720-0C1D60CB-0F6B-4D30-81FA-96F87CBF14A4 Q26824716-5AAAB939-9F68-4856-AF3F-E95EFF81EC6C Q26825968-B43882B0-9EE5-421D-8957-815633820C58 Q26829929-1D19EAE3-AD2F-4FD8-A8B7-519A4ABC374A Q26829936-88B1D96D-FEC3-4D4B-A6D2-995355FE1AB3 Q26859219-EE589268-6335-418E-8F6C-BDA22FE0B5BA Q26859938-0C44D197-22D5-4A49-866F-1F15C6B13F9B Q26860718-ED0F3B45-BCAD-4481-9793-29818AEAAE59 Q26999913-E47E9722-6112-4AD4-9C21-FE190A1DC30F Q27002324-30521D4A-4D4A-4DFB-B210-D2795CE50E10 Q27012842-E346CED9-BE09-4660-8FD5-B622CD4A0296 Q27025518-516B2D1D-6738-4D8F-A2FC-1595C9BFCBFF Q27025614-037A7761-9A3F-4C53-B39C-C549A1D6E103 Q27026481-8B818D18-CAE3-4082-A14B-31A4A5E2D752 Q27301019-7BC24C32-4AA9-4F26-930E-E45B49D8A2EE Q27301023-16A10D3D-115A-4F53-A809-FCB89B92C30B Q27310080-419530A0-0EFF-47D5-9B9F-BA85A510E4EA Q27310130-ED0B84D6-7B78-4E09-99DC-50D16D5B8B81

P2860

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

http://www.wikidata.org/entity/Q24302034

description

2011 nî lūn-bûn

@nan

2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

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

@ast

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

@en

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

@en-gb

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

@nl

type

label

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

@ast

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

@en

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

@en-gb

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

@nl

prefLabel

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

@ast

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

@en

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

@en-gb

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

@nl

P1433

Q24302034-0677A82D-8AB4-4137-95CD-419084866067

P1476

Q24302034-6DDEB322-56E9-4824-80A5-1BDEDB5FDC82

P2093

Q24302034-0AB64E18-B5CE-48E3-9CD3-6E5DD4AF7B59

Q24302034-0F9E6BA3-61B8-427D-9007-7D1FD2AA4571

Q24302034-1B0EFFDB-E735-45A7-9472-9D1AF5D67A41

Q24302034-1DE779BB-FF4B-4B13-B248-5CCEA8563EC5

Q24302034-264F6BAD-ED6B-4783-9F68-B519FCC86F69

Q24302034-3101CCDD-66BE-4434-9261-2306A4F6DC23

Q24302034-3F1C090F-6814-472C-9A0F-76E93DFB44E2

Q24302034-4D1C48A8-292D-4779-941C-597004EE5139

Q24302034-52AE1C6B-7939-4EB9-AED1-C0A7623A9FB5

Q24302034-54F58BF2-E4A3-42C8-B03F-9C9147A2E2D2

P2860

Q24302034-02E249EF-208E-4AC1-87C1-38913B108434

Q24302034-0408A705-820C-46A8-828E-AFB35C73ECCD

Q24302034-050F3A3A-3D8C-43F8-8CB0-B683226B2BF2

Q24302034-07C69CF9-0951-46DA-A560-0200264BEBA0

Q24302034-0FB75604-44D0-466E-9D9A-C5D37C838F5D

Q24302034-1848F856-8E00-486E-9EA7-F5EC60A7210F

Q24302034-19480C55-8A1E-4204-A60E-C6CF7ABFB086

Q24302034-1B7235C2-1996-41C9-A17F-7631A905D0A3

Q24302034-1DC751EF-8E55-4661-B711-B23ED60C7F59

Q24302034-2CD87483-DE5A-4083-AB23-1EA3BB8C116C

P304

Q24302034-24EF1636-27F6-4A15-86DD-22DBAE8F358B

P31

Q24302034-4D124436-90D3-4303-A1C8-43662ECA20B1

P3181

Q24302034-F46A2798-6347-44B1-8544-EA468CC10420

P356

Q24302034-71B651E3-5A7A-4608-8939-22A5CF6E591D

P407

Q24302034-8B9DE364-4D96-41BD-9A20-7F5C4E46A0A3

P433

Q24302034-F5921782-613A-414A-83A8-3A466ADB76B0

P478

Q24302034-45673CF2-2F32-4E7E-B269-7E476303B937

P50

Q24302034-945FB5D8-FD5B-4E7F-985B-73AAA03535DD

Q24302034-9F36FC06-F1BA-4DBE-82E7-47346BB0897A

Q24302034-B8AECB85-FED6-4A75-85B6-00481C55A329

Q24302034-D0B6C0C8-28AC-406F-9AF3-09529D286BC9

P577

Q24302034-0764065C-A437-4884-970F-42C1DE10F7FB

P5875

Q24302034-EBC2A132-E2E0-4BB7-BF80-C4CD7F47CE3F

P698

Q24302034-1CE2A21B-B43A-4530-9F5F-7DAE94EF05BC

P921

Q24302034-4C5614E2-FC8E-4B25-A871-C84C98BDC397

Q24302034-7A13E5FF-368E-40CB-AB3D-DBC082404285

Q24302034-A3B12C77-8A06-43B2-AA55-616FB0314EC0

Q24302034-B491BA09-4DD8-42E1-BE7D-BC86C9A4D703

P932

Q24302034-A3767F20-19E2-49CD-870A-0AEB7B42B2CC

P3181

P356

J.CELL.2011.04.019

P1433

P1476

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

@en

P2093

Abdul Noor

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

Akella Radha Rama Devi

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

Allen D Seol

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

Daniel A Doherty

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

Erik G Huntzicker

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

Heiko M Reutter

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

J Fernando Bazan

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

Jeremy F Reiter

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

John B Vincent

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

John F O'Toole

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

P2860

A systematic approach to mapping recessive disease genes in individuals from outbred populations

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Defining the human deubiquitinating enzyme interaction landscape

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

P304

513-28

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

P31

scholarly article

P3181

868735

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

P356

10.1016/J.CELL.2011.04.019

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

P407

P433

4

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

P478

145

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

P50

Friedhelm Hildebrandt

Diane C Slusarski

Francesc R Garcia-Gonzalo

P577

2011-05-13T00:00:00Z

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

P5875

51120407

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

P698

21565611

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

P921

P932

3383065

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