Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.Ibanez-Tallon I., Gorokhova S., Heintz N.View abstractCited forNUCLEOTIDE SEQUENCE [MRNA], DISEASEStrainC57BL/6J X CBA/JCategoriesSequences, Phenotypes & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCHum. Mol. Genet. 11:715-721 (2002)Cited in1Mapped to2
Lineage-specific biology revealed by a finished genome assembly of the mouse.Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L.[...], Ponting C.P.View abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]StrainC57BL/6JCategorySequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCPLoS Biol. 7:E1000112-E1000112 (2009)Cited in99+99+
The transcriptional landscape of the mammalian genome.Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B.[...], Hayashizaki Y.View abstractCited forNUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2481-3749StrainC57BL/6JTissueKidneyCategorySequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCScience 309:1559-1563 (2005)Cited in99+16Mapped to99+
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.Olbrich H., Haeffner K., Kispert A., Voelkel A., Volz A., Sasmaz G., Reinhardt R., Hennig S., Lehrach H.[...], Omran H.View abstractCited forTISSUE SPECIFICITY, DEVELOPMENTAL STAGECategoryExpressionSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCNat. Genet. 30:143-144 (2002)Cited in2
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.Ibanez-Tallon I., Pagenstecher A., Fliegauf M., Olbrich H., Kispert A., Ketelsen U.-P., North A., Heintz N., Omran H.View abstractCited forFUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPECategoriesFunction, Expression, Phenotypes & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCHum. Mol. Genet. 13:2133-2141 (2004)Cited in1Mapped to2
A tissue-specific atlas of mouse protein phosphorylation and expression.Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R., Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.View abstractCited forIDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]TissueLungCategorySequencesSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCCell 143:1174-1189 (2010)Cited in99+99+Mapped to6
CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components.Ide T., Twan W.K., Lu H., Ikawa Y., Lim L.X., Henninger N., Nishimura H., Takaoka K., Narasimhan V.[...], Hamada H.View abstractCited forSUBCELLULAR LOCATIONCategorySubcellular LocationSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCPLoS Genet. 16:e1009232-e1009232 (2020)Cited in5Mapped to17
Multiple mouse chromosomal loci for dynein-based motility.Vaughan K.T., Mikami A., Paschal B.M., Holzbaur E.L.F., Hughes S.M., Echeverri C.J., Moore K.J., Gilbert D.J., Copeland N.G.[...], Vallee R.B.View abstractCategorySequencesSourceMGI: 107718PubMedEurope PMCGenomics 36:29-38 (1996)Cited in410Mapped to99+
Genetic determinants of micronucleus formation in vivo.Adams D.J., Barlas B., McIntyre R.E., Salguero I., van der Weyden L., Barros A., Vicente J.R., Karimpour N., Haider A.[...], White J.K.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCNature 627:130-136 (2024)Mapped to99+
Prominin 1 and Notch regulate ciliary length and dynamics in multiciliated cells of the airway epithelium.Serra C.F.H., Liu H., Qian J., Mori M., Lu J., Cardoso W.V.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCiScience 25:104751-104751 (2022)Mapped to55
ZMYND10 functions in a chaperone relay during axonemal dynein assembly.Mali G.R., Yeyati P.L., Mizuno S., Dodd D.O., Tennant P.A., Keighren M.A., Zur Lage P., Shoemark A., Garcia-Munoz A.[...], Mill P.View abstractCategoryInteractionSourceMGI: 107718PubMedEurope PMCElife 7:e34389-e34389 (2018)Mapped to35
Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development.Desai P.B., San Agustin J.T., Stuck M.W., Jonassen J.A., Bates C.M., Pazour G.J.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCMech. Dev. 151:10-17 (2018)Cited in2Mapped to6
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro- optical coherence tomography.Solomon G.M., Francis R., Chu K.K., Birket S.E., Gabriel G., Trombley J.E., Lemke K.L., Klena N., Turner B.[...], Rowe S.M.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 107718PubMedEurope PMCJCI Insight 2:e91702-e91702 (2017)Mapped to12
Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6.Inaba Y., Shinohara K., Botilde Y., Nabeshima R., Takaoka K., Ajima R., Lamri L., Takeda H., Saga Y.[...], Hamada H.View abstractCategorySubcellular LocationSourceMGI: 107718PubMedEurope PMCGenes Cells 21:728-739 (2016)Cited in1Mapped to38
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Burnicka-Turek O., Steimle J.D., Huang W., Felker L., Kamp A., Kweon J., Peterson M., Reeves R.H., Maslen C.L.[...], Moskowitz I.P.View abstractCategoriesSequences, Phenotypes & VariantsSourceMGI: 107718PubMedEurope PMCHum Mol Genet 25:3011-3028 (2016)Mapped to99+
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.Li Y., Yagi H., Onuoha E.O., Damerla R.R., Francis R., Furutani Y., Tariq M., King S.M., Hendricks G.[...], Lo C.W.View abstractAnnotationDnah6 genetically interacts with Dnai1 and Dnah5 to cause heterotaxy and primary ciliary dyskinesia.CategoriesSequences, Phenotypes & VariantsSourceGeneRif: 110082, MGI: 107718PubMedEurope PMCPLoS Genet 12:e1005821-e1005821 (2016)Cited in1Mapped to14
Gene Expression by Mouse Inner Ear Hair Cells during Development.Scheffer D.I., Shen J., Corey D.P., Chen Z.Y.View abstractCategoryExpressionSourceMGI: 107718PubMedEurope PMCJ Neurosci 35:6366-6380 (2015)Mapped to68
Global genetic analysis in mice unveils central role for cilia in congenital heart disease.Li Y., Klena N.T., Gabriel G.C., Liu X., Kim A.J., Lemke K., Chen Y., Chatterjee B., Devine W.[...], Lo C.W.View abstractCategoriesSequences, Phenotypes & VariantsSourceMGI: 107718PubMedEurope PMCNature 521:520-524 (2015)Mapped to99+
Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells.Funk M.C., Bera A.N., Menchen T., Kuales G., Thriene K., Lienkamp S.S., Dengjel J., Omran H., Frank M., Arnold S.J.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCEMBO J 34:1078-1089 (2015)Mapped to12
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.UK10K ConsortiumHjeij R., Onoufriadis A., Watson C.M., Slagle C.E., Klena N.T., Dougherty G.W., Kurkowiak M., Loges N.T., Diggle C.P.[...], Mitchison H.M.View abstractCategoryInteractionSourceMGI: 107718PubMedEurope PMCAm. J. Hum. Genet. 95:257-274 (2014)Cited in31Mapped to8
The TRPM7 chanzyme is cleaved to release a chromatin-modifying kinase.Krapivinsky G., Krapivinsky L., Manasian Y., Clapham D.E.View abstractCategoryInteractionSourceIntAct: Q8VHE6PubMedEurope PMCCell 157:1061-1072 (2014)Cited in1Mapped to99+
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.Koscielny G., Yaikhom G., Iyer V., Meehan T.F., Morgan H., Atienza-Herrero J., Blake A., Chen C.K., Easty R.[...], Parkinson H.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCNucleic Acids Res 42:D802-9 (2014)Mapped to99+
DYX1C1 is required for axonemal dynein assembly and ciliary motility.Tarkar A., Loges N.T., Slagle C.E., Francis R., Dougherty G.W., Tamayo J.V., Shook B., Cantino M., Schwartz D.[...], Omran H.View abstractCategoryInteractionSourceMGI: 107718PubMedEurope PMCNat. Genet. 45:995-1003 (2013)Cited in71Mapped to54
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.Hjeij R., Lindstrand A., Francis R., Zariwala M.A., Liu X., Li Y., Damerla R., Dougherty G.W., Abouhamed M.[...], Omran H.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCAm. J. Hum. Genet. 93:357-367 (2013)Cited in2Mapped to8
The establishment of rotational polarity in the airway and ependymal cilia: analysis with a novel cilium motility mutant mouse.Matsuo M., Shimada A., Koshida S., Saga Y., Takeda H.View abstractCategoryFunctionSourceMGI: 107718PubMedEurope PMCAm J Physiol Lung Cell Mol Physiol 304:L736-45 (2013)Mapped to16