000181275 001__ 181275
000181275 005__ 20240301130855.0
000181275 0247_ $$2doi$$a10.1038/s41431-017-0031-0
000181275 0247_ $$2pmid$$apmid:29255182
000181275 0247_ $$2pmc$$apmc:PMC5865152
000181275 0247_ $$2ISSN$$a1018-4813
000181275 0247_ $$2ISSN$$a1476-5438
000181275 0247_ $$2altmetric$$aaltmetric:28964253
000181275 037__ $$aDKFZ-2022-01918
000181275 041__ $$aEnglish
000181275 082__ $$a610
000181275 1001_ $$aRafiullah, Rafiullah$$b0
000181275 245__ $$aA novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
000181275 260__ $$aBasingstoke$$bStockton Press$$c2017
000181275 3367_ $$2DRIVER$$aarticle
000181275 3367_ $$2DataCite$$aOutput Types/Journal article
000181275 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1660911050_30405
000181275 3367_ $$2BibTeX$$aARTICLE
000181275 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000181275 3367_ $$00$$2EndNote$$aJournal Article
000181275 500__ $$aDKFZ-ZMBH Alliance
000181275 520__ $$aARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or function lead to a class of human disorders called ciliopathies. Joubert syndrome is characterized by a wide spectrum of symptoms, including a variable degree of intellectual disability, ataxia, and ocular abnormalities. Here we report a novel homozygous missense variant c.[223G>A] (p.(Gly75Arg) in the ARL13B gene, which was identified by whole-exome sequencing of a trio from a consanguineous family with multiple-affected individuals suffering from intellectual disability, ataxia, ocular defects, and epilepsy. The same variant was also identified in a second family. We saw a striking difference in the severity of ataxia between affected male and female individuals in both families. Both ARL13B and ARL13B-c.[223G>A] (p.(Gly75Arg) expression rescued the cilia length and Shh defects displayed by Arl13b hennin (null) cells, indicating that the variant did not disrupt either ARL13B function. In contrast, ARL13B-c.[223G>A] (p.(Gly75Arg) displayed a marked loss of ARL3 guanine nucleotide-exchange factor activity, with retention of its GTPase activities, highlighting the correlation between its loss of function as an ARL3 guanine nucleotide-exchange factor and Joubert syndrome.
000181275 536__ $$0G:(DE-HGF)POF3-312$$a312 - Functional and structural genomics (POF3-312)$$cPOF3-312$$fPOF III$$x0
000181275 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
000181275 650_7 $$086-01-1$$2NLM Chemicals$$aGuanosine Triphosphate
000181275 650_7 $$0EC 3.6.5.2$$2NLM Chemicals$$aADP-Ribosylation Factors
000181275 650_7 $$0EC 3.6.5.2$$2NLM Chemicals$$aArl13b protein, human
000181275 650_2 $$2MeSH$$aADP-Ribosylation Factors: genetics
000181275 650_2 $$2MeSH$$aADP-Ribosylation Factors: metabolism
000181275 650_2 $$2MeSH$$aAbnormalities, Multiple: diagnosis
000181275 650_2 $$2MeSH$$aAbnormalities, Multiple: genetics
000181275 650_2 $$2MeSH$$aAdolescent
000181275 650_2 $$2MeSH$$aAdult
000181275 650_2 $$2MeSH$$aAnimals
000181275 650_2 $$2MeSH$$aCell Line, Tumor
000181275 650_2 $$2MeSH$$aCells, Cultured
000181275 650_2 $$2MeSH$$aCerebellum: abnormalities
000181275 650_2 $$2MeSH$$aChild
000181275 650_2 $$2MeSH$$aEye Abnormalities: diagnosis
000181275 650_2 $$2MeSH$$aEye Abnormalities: genetics
000181275 650_2 $$2MeSH$$aFemale
000181275 650_2 $$2MeSH$$aGuanosine Triphosphate: metabolism
000181275 650_2 $$2MeSH$$aHomozygote
000181275 650_2 $$2MeSH$$aHumans
000181275 650_2 $$2MeSH$$aKidney Diseases, Cystic: diagnosis
000181275 650_2 $$2MeSH$$aKidney Diseases, Cystic: genetics
000181275 650_2 $$2MeSH$$aLoss of Function Mutation
000181275 650_2 $$2MeSH$$aMale
000181275 650_2 $$2MeSH$$aMice
000181275 650_2 $$2MeSH$$aMutation, Missense
000181275 650_2 $$2MeSH$$aPedigree
000181275 650_2 $$2MeSH$$aRetina: abnormalities
000181275 7001_ $$aLong, Alyssa B$$b1
000181275 7001_ $$aIvanova, Anna A$$b2
000181275 7001_ $$aAli, Hazrat$$b3
000181275 7001_ $$aBerkel, Simone$$b4
000181275 7001_ $$aMustafa, Ghulam$$b5
000181275 7001_ $$aParamasivam, Nagarajan$$b6
000181275 7001_ $$0P:(DE-He78)f2a782242acf94a3114d75c45dc75b37$$aSchlesner, Matthias$$b7$$udkfz
000181275 7001_ $$0P:(DE-He78)f6bebe05e7a748d3cbf9f59659567d52$$aWiemann, Stefan$$b8$$udkfz
000181275 7001_ $$00000-0001-5951-8670$$aWade, Rebecca C$$b9
000181275 7001_ $$aBolthauser, Eugen$$b10
000181275 7001_ $$aBlum, Martin$$b11
000181275 7001_ $$aKahn, Richard A$$b12
000181275 7001_ $$aCaspary, Tamara$$b13
000181275 7001_ $$aRappold, Gudrun A$$b14
000181275 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/s41431-017-0031-0$$gVol. 25, no. 12, p. 1324 - 1334$$n12$$p1324 - 1334$$tEuropean journal of human genetics$$v25$$x1018-4813$$y2017
000181275 909CO $$ooai:inrepo02.dkfz.de:181275$$pVDB
000181275 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f2a782242acf94a3114d75c45dc75b37$$aDeutsches Krebsforschungszentrum$$b7$$kDKFZ
000181275 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f6bebe05e7a748d3cbf9f59659567d52$$aDeutsches Krebsforschungszentrum$$b8$$kDKFZ
000181275 9131_ $$0G:(DE-HGF)POF3-312$$1G:(DE-HGF)POF3-310$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunctional and structural genomics$$x0
000181275 9141_ $$y2017
000181275 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bEUR J HUM GENET : 2019$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2021-01-27
000181275 915__ $$0StatID:(DE-HGF)9900$$2StatID$$aIF < 5$$d2021-01-27
000181275 9201_ $$0I:(DE-He78)B080-20160331$$kB080$$lTheoretische Bioinformatik$$x0
000181275 9201_ $$0I:(DE-He78)W110-20160331$$kW110$$lBewerunge-Hudler$$x1
000181275 980__ $$ajournal
000181275 980__ $$aVDB
000181275 980__ $$aI:(DE-He78)B080-20160331
000181275 980__ $$aI:(DE-He78)W110-20160331
000181275 980__ $$aUNRESTRICTED