{"data":{"id":"10.6084/m9.figshare.1378951.v2","type":"dois","attributes":{"doi":"10.6084/m9.figshare.1378951.v2","prefix":"10.6084","suffix":"m9.figshare.1378951.v2","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Ankur A. Gholkar","affiliation":[],"nameIdentifiers":[]},{"name":"Senese, Silvia","nameType":"Personal","givenName":"Silvia","familyName":"Senese","affiliation":[],"nameIdentifiers":[]},{"name":"Lo, Yu-Chen","nameType":"Personal","givenName":"Yu-Chen","familyName":"Lo","affiliation":[],"nameIdentifiers":[]},{"name":"Capri, Joseph","nameType":"Personal","givenName":"Joseph","familyName":"Capri","affiliation":[],"nameIdentifiers":[]},{"name":"Deardorff, William J","nameType":"Personal","givenName":"William J","familyName":"Deardorff","affiliation":[],"nameIdentifiers":[]},{"name":"Dharmarajan, Harish","nameType":"Personal","givenName":"Harish","familyName":"Dharmarajan","affiliation":[],"nameIdentifiers":[]},{"name":"Ely Contreras","affiliation":[],"nameIdentifiers":[]},{"name":"Hodara, Emmanuelle","nameType":"Personal","givenName":"Emmanuelle","familyName":"Hodara","affiliation":[],"nameIdentifiers":[]},{"name":"Whitelegge, Julian P","nameType":"Personal","givenName":"Julian P","familyName":"Whitelegge","affiliation":[],"nameIdentifiers":[]},{"name":"Jackson, Peter K","nameType":"Personal","givenName":"Peter K","familyName":"Jackson","affiliation":[],"nameIdentifiers":[]},{"name":"Torres, Jorge Z","nameType":"Personal","givenName":"Jorge Z","familyName":"Torres","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis"}],"publisher":"Taylor \u0026 Francis","container":{},"publicationYear":2015,"subjects":[{"subject":"Biophysics"},{"subject":"Biochemistry"},{"subject":"29999 Physical Sciences not elsewhere classified","subjectScheme":"FOR"},{"subject":"FOS: Physical sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Physical sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Medicine"},{"subject":"Cell Biology"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Biological sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"19999 Mathematical Sciences not elsewhere classified","subjectScheme":"FOR"},{"subject":"FOS: Mathematics","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Mathematics","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"111714 Mental Health","subjectScheme":"FOR"},{"subject":"FOS: Health sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Health sciences","subjectScheme":"Fields of Science and Technology (FOS)"}],"contributors":[],"dates":[{"date":"2015-10-09","dateType":"Created"},{"date":"2019-06-03","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsSupplementTo","relatedIdentifier":"10.4161/15384101.2014.985066","relatedIdentifierType":"DOI"},{"relationType":"IsIdenticalTo","relatedIdentifier":"10.6084/m9.figshare.1378951","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["1980689 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and basal body homeostasis, which are critical for cilia assembly and function. Recently, mutations in \u003ci\u003eWDR34\u003c/i\u003e or \u003ci\u003eWDR60\u003c/i\u003e (candidate dynein intermediate chains) were identified in SRPS. We have identified and characterized Tctex1d2, which associates with Wdr34, Wdr60 and other dynein complex 1 and 2 subunits. Tctex1d2 and Wdr60 localize to the base of the cilium and their depletion causes defects in ciliogenesis. We propose that Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde IFT and is a new molecular link to understanding SRPS pathology.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"PD94bWwgdmVyc2lvbj0iMS4wIiBlbmNvZGluZz0iVVRGLTgiPz4KPHJlc291cmNlIHhtbG5zPSJodHRwOi8vZGF0YWNpdGUub3JnL3NjaGVtYS9rZXJuZWwtNCIgeG1sbnM6eHNpPSJodHRwOi8vd3d3LnczLm9yZy8yMDAxL1hNTFNjaGVtYS1pbnN0YW5jZSIgeHNpOnNjaGVtYUxvY2F0aW9uPSJodHRwOi8vZGF0YWNpdGUub3JnL3NjaGVtYS9rZXJuZWwtNCBodHRwOi8vc2NoZW1hLmRhdGFjaXRlLm9yZy9tZXRhL2tlcm5lbC00LjEvbWV0YWRhdGEueHNkIj4KICA8aWRlbnRpZmllciBpZGVudGlmaWVyVHlwZT0iRE9JIj4xMC42MDg0L005LkZJR1NIQVJFLjEzNzg5NTEuVjI8L2lkZW50aWZpZXI+CiAgPGNyZWF0b3JzPgogICAgPGNyZWF0b3I+CiAgICAgIDxjcmVhdG9yTmFtZT5Bbmt1ciBBLiBHaG9sa2FyPC9jcmVhdG9yTmFtZT4KICAgIDwvY3JlYXRvcj4KICAgIDxjcmVhdG9yPgogICAgICA8Y3JlYXRvck5hbWU+U2lsdmlhIFNlbmVzZTwvY3JlYXRvck5hbWU+CiAgICA8L2NyZWF0b3I+CiAgICA8Y3JlYXRvcj4KICAgICAgPGNyZWF0b3JOYW1lPll1LUNoZW4gTG88L2NyZWF0b3JOYW1lPgogICAgPC9jcmVhdG9yPgogICAgPGNyZWF0b3I+CiAgICAgIDxjcmVhdG9yTmFtZT5Kb3NlcGggQ2Fwcmk8L2NyZWF0b3JOYW1lPgogICAgPC9jcmVhdG9yPgogICAgPGNyZWF0b3I+CiAgICAgIDxjcmVhdG9yTmFtZT5XaWxsaWFtIEogRGVhcmRvcmZmPC9jcmVhdG9yTmFtZT4KICAgIDwvY3JlYXRvcj4KICAgIDxjcmVhdG9yPgogICAgICA8Y3JlYXRvck5hbWU+SGFyaXNoIERoYXJtYXJhamFuPC9jcmVhdG9yTmFtZT4KICAgIDwvY3JlYXRvcj4KICAgIDxjcmVhdG9yPgogICAgICA8Y3JlYXRvck5hbWU+RWx5IENvbnRyZXJhczwvY3JlYXRvck5hbWU+CiAgICA8L2NyZWF0b3I+CiAgICA8Y3JlYXRvcj4KICAgICAgPGNyZWF0b3JOYW1lPkVtbWFudWVsbGUgSG9kYXJhPC9jcmVhdG9yTmFtZT4KICAgIDwvY3JlYXRvcj4KICAgIDxjcmVhdG9yPgogICAgICA8Y3JlYXRvck5hbWU+SnVsaWFuIFAgV2hpdGVsZWdnZTwvY3JlYXRvck5hbWU+CiAgICA8L2NyZWF0b3I+CiAgICA8Y3JlYXRvcj4KICAgICAgPGNyZWF0b3JOYW1lPlBldGVyIEsgSmFja3NvbjwvY3JlYXRvck5hbWU+CiAgICA8L2NyZWF0b3I+CiAgICA8Y3JlYXRvcj4KICAgICAgPGNyZWF0b3JOYW1lPkpvcmdlIFogVG9ycmVzPC9jcmVhdG9yTmFtZT4KICAgIDwvY3JlYXRvcj4KICA8L2NyZWF0b3JzPgogIDx0aXRsZXM+CiAgICA8dGl0bGU+VGN0ZXgxZDIgYXNzb2NpYXRlcyB3aXRoIHNob3J0LXJpYiBwb2x5ZGFjdHlseSBzeW5kcm9tZSBwcm90ZWlucyBhbmQgaXMgcmVxdWlyZWQgZm9yIGNpbGlvZ2VuZXNpczwvdGl0bGU+CiAgPC90aXRsZXM+CiAgPGRlc2NyaXB0aW9ucz4KICAgIDxkZXNjcmlwdGlvbiBkZXNjcmlwdGlvblR5cGU9IkFic3RyYWN0Ij4mbHQ7cCZndDtTaG9ydC1yaWIgcG9seWRhY3R5bHkgc3luZHJvbWVzIChTUlBTKSBhcmlzZSBmcm9tIG11dGF0aW9ucyBpbiBnZW5lcyBpbnZvbHZlZCBpbiByZXRyb2dyYWRlIGludHJhZmxhZ2VsbGFyIHRyYW5zcG9ydCAoSUZUKSBhbmQgYmFzYWwgYm9keSBob21lb3N0YXNpcywgd2hpY2ggYXJlIGNyaXRpY2FsIGZvciBjaWxpYSBhc3NlbWJseSBhbmQgZnVuY3Rpb24uIFJlY2VudGx5LCBtdXRhdGlvbnMgaW4gJmx0O2kmZ3Q7V0RSMzQmbHQ7L2kmZ3Q7IG9yICZsdDtpJmd0O1dEUjYwJmx0Oy9pJmd0OyAoY2FuZGlkYXRlIGR5bmVpbiBpbnRlcm1lZGlhdGUgY2hhaW5zKSB3ZXJlIGlkZW50aWZpZWQgaW4gU1JQUy4gV2UgaGF2ZSBpZGVudGlmaWVkIGFuZCBjaGFyYWN0ZXJpemVkIFRjdGV4MWQyLCB3aGljaCBhc3NvY2lhdGVzIHdpdGggV2RyMzQsIFdkcjYwIGFuZCBvdGhlciBkeW5laW4gY29tcGxleCAxIGFuZCAyIHN1YnVuaXRzLiBUY3RleDFkMiBhbmQgV2RyNjAgbG9jYWxpemUgdG8gdGhlIGJhc2Ugb2YgdGhlIGNpbGl1bSBhbmQgdGhlaXIgZGVwbGV0aW9uIGNhdXNlcyBkZWZlY3RzIGluIGNpbGlvZ2VuZXNpcy4gV2UgcHJvcG9zZSB0aGF0IFRjdGV4MWQyIGlzIGEgbm92ZWwgZHluZWluIGxpZ2h0IGNoYWluIGltcG9ydGFudCBmb3IgdHJhZmZpY2tpbmcgdG8gdGhlIGNpbGl1bSBhbmQgcG90ZW50aWFsbHkgcmV0cm9ncmFkZSBJRlQgYW5kIGlzIGEgbmV3IG1vbGVjdWxhciBsaW5rIHRvIHVuZGVyc3RhbmRpbmcgU1JQUyBwYXRob2xvZ3kuJmx0Oy9wJmd0OzwvZGVzY3JpcHRpb24+CiAgPC9kZXNjcmlwdGlvbnM+CiAgPHN1YmplY3RzPgogICAgPHN1YmplY3Q+QmlvcGh5c2ljczwvc3ViamVjdD4KICAgIDxzdWJqZWN0PkJpb2NoZW1pc3RyeTwvc3ViamVjdD4KICAgIDxzdWJqZWN0IHNjaGVtZVVSST0iaHR0cDovL3d3dy5hYnMuZ292LmF1L2F1c3N0YXRzL2Fic0AubnNmLzAvNkJCNDI3QUI5Njk2QzIyNUNBMjU3NDE4MDAwNDQ2M0UiIHN1YmplY3RTY2hlbWU9IkZPUiI+Mjk5OTkgUGh5c2ljYWwgU2NpZW5jZXMgbm90IGVsc2V3aGVyZSBjbGFzc2lmaWVkPC9zdWJqZWN0PgogICAgPHN1YmplY3Q+TWVkaWNpbmU8L3N1YmplY3Q+CiAgICA8c3ViamVjdD5DZWxsIEJpb2xvZ3k8L3N1YmplY3Q+CiAgICA8c3ViamVjdD5HZW5ldGljczwvc3ViamVjdD4KICAgIDxzdWJqZWN0IHNjaGVtZVVSST0iaHR0cDovL3d3dy5hYnMuZ292LmF1L2F1c3N0YXRzL2Fic0AubnNmLzAvNkJCNDI3QUI5Njk2QzIyNUNBMjU3NDE4MDAwNDQ2M0UiIHN1YmplY3RTY2hlbWU9IkZPUiI+MTk5OTkgTWF0aGVtYXRpY2FsIFNjaWVuY2VzIG5vdCBlbHNld2hlcmUgY2xhc3NpZmllZDwvc3ViamVjdD4KICAgIDxzdWJqZWN0IHNjaGVtZVVSST0iaHR0cDovL3d3dy5hYnMuZ292LmF1L2F1c3N0YXRzL2Fic0AubnNmLzAvNkJCNDI3QUI5Njk2QzIyNUNBMjU3NDE4MDAwNDQ2M0UiIHN1YmplY3RTY2hlbWU9IkZPUiI+MTExNzE0IE1lbnRhbCBIZWFsdGg8L3N1YmplY3Q+CiAgPC9zdWJqZWN0cz4KICA8cHVibGlzaGVyPlRheWxvciAmYW1wOyBGcmFuY2lzPC9wdWJsaXNoZXI+CiAgPHB1YmxpY2F0aW9uWWVhcj4yMDE1PC9wdWJsaWNhdGlvblllYXI+CiAgPGRhdGVzPgogICAgPGRhdGUgZGF0ZVR5cGU9IkNyZWF0ZWQiPjIwMTUtMTAtMDk8L2RhdGU+CiAgICA8ZGF0ZSBkYXRlVHlwZT0iVXBkYXRlZCI+MjAxOS0wNi0wMzwvZGF0ZT4KICA8L2RhdGVzPgogIDxyZXNvdXJjZVR5cGUgcmVzb3VyY2VUeXBlR2VuZXJhbD0iRGF0YXNldCI+RGF0YXNldDwvcmVzb3VyY2VUeXBlPgogIDxzaXplcz4KICAgIDxzaXplPjE5ODA2ODkgQnl0ZXM8L3NpemU+CiAgPC9zaXplcz4KICA8cmVsYXRlZElkZW50aWZpZXJzPgogICAgPHJlbGF0ZWRJZGVudGlmaWVyIHJlbGF0ZWRJZGVudGlmaWVyVHlwZT0iRE9JIiByZWxhdGlvblR5cGU9IklzU3VwcGxlbWVudFRvIj4xMC40MTYxLzE1Mzg0MTAxLjIwMTQuOTg1MDY2PC9yZWxhdGVkSWRlbnRpZmllcj4KICAgIDxyZWxhdGVkSWRlbnRpZmllciByZWxhdGVkSWRlbnRpZmllclR5cGU9IkRPSSIgcmVsYXRpb25UeXBlPSJJc0lkZW50aWNhbFRvIj4xMC42MDg0L205LmZpZ3NoYXJlLjEzNzg5NTE8L3JlbGF0ZWRJZGVudGlmaWVyPgogIDwvcmVsYXRlZElkZW50aWZpZXJzPgogIDxyaWdodHNMaXN0PgogICAgPHJpZ2h0cyByaWdodHNVUkk9Imh0dHBzOi8vY3JlYXRpdmVjb21tb25zLm9yZy9saWNlbnNlcy9ieS80LjAvIj5DQyBCWSA0LjA8L3JpZ2h0cz4KI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