{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:51:43Z","timestamp":1791327103563,"version":"4.3.1"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"18","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,9,15]]},"DOI":"10.1093\/hmg\/ddh219","type":"journal-article","created":{"date-parts":[[2004,7,21]],"date-time":"2004-07-21T22:27:38Z","timestamp":1090448858000},"page":"2133-2141","source":"Crossref","is-referenced-by-count":333,"title":["Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation"],"prefix":"10.1093","volume":"13","author":[{"given":"In\u00e9s","family":"Iba\u00f1ez-Tallon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Axel","family":"Pagenstecher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"Fliegauf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kispert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe-Peter","family":"Ketelsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"North","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaniel","family":"Heintz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2004,7,21]]},"reference":[{"key":"key\n\t\t\t\t20170522145955_DDH219C1","doi-asserted-by":"crossref","unstructured":"Ibanez-Tallon, I., Heintz, N. and Omran, H. ( 2003 ) To beat or not to beat: roles of cilia in development and disease. Hum. Mol. Genet. , 12 , R27 \u2013R35.","DOI":"10.1093\/hmg\/ddg061"},{"key":"key\n\t\t\t\t20170522145955_DDH219C2","doi-asserted-by":"crossref","unstructured":"El Zein, L., Omran, H. and Bouvagnet, P. ( 2003 ) Lateralization defects and ciliary dyskinesia: lessons from algae. Trends Genet. , 19 , 162 \u2013167.","DOI":"10.1016\/S0168-9525(03)00026-X"},{"key":"key\n\t\t\t\t20170522145955_DDH219C3","doi-asserted-by":"crossref","unstructured":"King, S.M. ( 2000 ) The dynein microtubule motor. Biochim. Biophys. Acta , 1496 , 60 \u201375.","DOI":"10.1016\/S0167-4889(00)00009-4"},{"key":"key\n\t\t\t\t20170522145955_DDH219C4","doi-asserted-by":"crossref","unstructured":"Wilkerson, C.G., King, S.M. and Witman, G.B. ( 1994 ) Molecular analysis of the gamma heavy chain of Chlamydomonas flagellar outer-arm dynein. J. Cell Sci. , 107 , 497 \u2013506.","DOI":"10.1242\/jcs.107.3.497"},{"key":"key\n\t\t\t\t20170522145955_DDH219C5","doi-asserted-by":"crossref","unstructured":"Olbrich, H., Haffner, K., Kispert, A., Volkel, A., Volz, A., Sasmaz, G., Reinhardt, R., Hennig, S., Lehrach, H., Konietzko, N. et\u00a0al. ( 2002 ) Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat. Genet. , 30 , 143 \u2013144.","DOI":"10.1038\/ng817"},{"key":"key\n\t\t\t\t20170522145955_DDH219C6","doi-asserted-by":"crossref","unstructured":"Ibanez-Tallon, I., Gorokhova, S. and Heintz, N. ( 2002 ) Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. Hum. Mol. Genet. , 11 , 715 \u2013721.","DOI":"10.1093\/hmg\/11.6.715"},{"key":"key\n\t\t\t\t20170522145955_DDH219C7","doi-asserted-by":"crossref","unstructured":"Omran, H., Haffner, K., Volkel, A., Kuehr, J., Ketelsen, U.P., Ross, U.H., Konietzko, N., Wienker, T., Brandis, M. and Hildebrandt, F. ( 2000 ) Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am. J. Respir. Cell Mol. Biol. , 23 , 696 \u2013702.","DOI":"10.1165\/ajrcmb.23.5.4257"},{"key":"key\n\t\t\t\t20170522145955_DDH219C8","doi-asserted-by":"crossref","unstructured":"Kispert, A., Petry, M., Olbrich, H., Volz, A., Ketelsen, U.P., Horvath, J., Melkaoui, R., Omran, H., Zariwala, M., Noone, P.G. and Knowles, M. ( 2003 ) Genotype\u2013phenotype correlations in PCD patients carrying DNAH5 mutations. Thorax , 58 , 552 \u2013554.","DOI":"10.1136\/thorax.58.6.552-b"},{"key":"key\n\t\t\t\t20170522145955_DDH219C9","doi-asserted-by":"crossref","unstructured":"Sapiro, R., Kostetskii, I., Olds-Clarke, P., Gerton, G.L., Radice, G.L. and Strauss, J.F., III ( 2002 ) Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6. Mol. Cell. Biol. , 22 , 6298 \u20136305.","DOI":"10.1128\/MCB.22.17.6298-6305.2002"},{"key":"key\n\t\t\t\t20170522145955_DDH219C10","doi-asserted-by":"crossref","unstructured":"Taulman, P.D., Haycraft, C.J., Balkovetz, D.F. and Yoder, B.K. ( 2001 ) Polaris, a protein involved in left\u2013right axis patterning, localizes to basal bodies and cilia. Mol. Biol. Cell , 12 , 589 \u2013599.","DOI":"10.1091\/mbc.12.3.589"},{"key":"key\n\t\t\t\t20170522145955_DDH219C11","doi-asserted-by":"crossref","unstructured":"Kobayashi, Y., Watanabe, M., Okada, Y., Sawa, H., Takai, H., Nakanishi, M., Kawase, Y., Suzuki, H., Nagashima, K., Ikeda, K. and Motoyama, N. ( 2002 ) Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Mol. Cell. Biol. , 22 , 2769 \u20132776.","DOI":"10.1128\/MCB.22.8.2769-2776.2002"},{"key":"key\n\t\t\t\t20170522145955_DDH219C12","doi-asserted-by":"crossref","unstructured":"Chen, J., Knowles, H.J., Hebert, J.L. and Hackett, B.P. ( 1998 ) Mutation of the mouse hepatocyte nuclear factor\/forkhead homologue 4 gene results in an absence of cilia and random left\u2013right asymmetry. J. Clin. Invest. , 102 , 1077 \u20131082.","DOI":"10.1172\/JCI4786"},{"key":"key\n\t\t\t\t20170522145955_DDH219C13","unstructured":"Torikata, C., Kijimoto, C. and Koto, M. ( 1991 ) Ultrastructure of respiratory cilia of WIC-Hyd male rats. An animal model for human immotile cilia syndrome. Am. J. Pathol. , 138 , 341 \u2013347."},{"key":"key\n\t\t\t\t20170522145955_DDH219C14","doi-asserted-by":"crossref","unstructured":"Bruni, J.E., Del Bigio, M.R., Cardoso, E.R. and Persaud, T.V. ( 1988 ) Neuropathology of congenital hydrocephalus in the SUMS\/NP mouse. Acta Neurochir. , 92 , 118 \u2013122.","DOI":"10.1007\/BF01401981"},{"key":"key\n\t\t\t\t20170522145955_DDH219C15","doi-asserted-by":"crossref","unstructured":"Rott, H.D. ( 1979 ) Kartagener's syndrome and the syndrome of immotile cilia. Hum. Genet. , 46 , 249 \u2013261.","DOI":"10.1007\/BF00273308"},{"key":"key\n\t\t\t\t20170522145955_DDH219C16","unstructured":"Jabourian, Z., Lublin, F.D., Adler, A., Gonzales, C., Northrup, B. and Zwillenberg, D. ( 1986 ) Hydrocephalus in Kartagener's syndrome. Ear Nose Throat J. , 65 , 468 \u2013472."},{"key":"key\n\t\t\t\t20170522145955_DDH219C17","doi-asserted-by":"crossref","unstructured":"de Santi, M.M., Magni, A., Valletta, E.A., Gardi, C. and Lungarella, G. ( 1990 ) Hydrocephalus, bronchiectasis, and ciliary aplasia. Arch. Dis. Child , 65 , 543 \u2013544.","DOI":"10.1136\/adc.65.5.543"},{"key":"key\n\t\t\t\t20170522145955_DDH219C18","unstructured":"Picco, P., Leveratto, L., Cama, A., Vigliarolo, M.A., Levato, G.L., Gattorno, M., Zammarchi, E. and Donati, M.A. ( 1993 ) Immotile cilia syndrome associated with hydrocephalus and precocious puberty: a case report. Eur. J. Pediatr. Surg. , 3 (Suppl. 1), 20 \u201321."},{"key":"key\n\t\t\t\t20170522145955_DDH219C19","doi-asserted-by":"crossref","unstructured":"Zammarchi, E., Calzolari, C., Pignotti, M.S., Pezzati, P., Lignana, E. and Cama, A. ( 1993 ) Unusual presentation of the immotile cilia syndrome in two children. Acta Paediatr. , 82 , 312 \u2013313.","DOI":"10.1111\/j.1651-2227.1993.tb12670.x"},{"key":"key\n\t\t\t\t20170522145955_DDH219C20","doi-asserted-by":"crossref","unstructured":"al Shroof, M., Karnik, A.M., Karnik, A.A., Longshore, J., Sliman, N.A. and Khan, F.A. ( 2001 ) Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family. Mayo Clin. Proc. , 76 , 1219 \u20131224.","DOI":"10.4065\/76.12.1219"},{"key":"key\n\t\t\t\t20170522145955_DDH219C21","doi-asserted-by":"crossref","unstructured":"Wessels, M.W., den Hollander, N.S. and Willems, P.J. ( 2003 ) Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat. Diagn. , 23 , 239 \u2013242.","DOI":"10.1002\/pd.551"},{"key":"key\n\t\t\t\t20170522145955_DDH219C22","doi-asserted-by":"crossref","unstructured":"Holzbaur, E.L. and Vallee, R.B. ( 1994 ) DYNEINS: molecular structure and cellular function. Annu. Rev. Cell Biol. , 10 , 339 \u2013372.","DOI":"10.1146\/annurev.cb.10.110194.002011"},{"key":"key\n\t\t\t\t20170522145955_DDH219C23","unstructured":"Aicardi, J. ( 1998 ) Hydrocephalus. In Aicardi, J. (ed.), Diseases of the Nervous System , 2nd edn. Mac Keith Press, London, UK, pp. 187 \u2013209."},{"key":"key\n\t\t\t\t20170522145955_DDH219C24","unstructured":"Roume, J., Larroche, J.C., Razavi-Encha, F., Gonzales, M., Migne, G. and Mulliez, N. ( 1990 ) Fetal hydrocephalus. Clinical significance of associated anomalies and genetic counseling: a pathological approach. Genet. Couns.1 , 185 \u2013196."},{"key":"key\n\t\t\t\t20170522145955_DDH219C25","doi-asserted-by":"crossref","unstructured":"el Awad, M.E. ( 1992 ) Infantile hydrocephalus in the south-western region of Saudi Arabia. Ann. Trop. Paediatr.12 , 335 \u2013338.","DOI":"10.1080\/02724936.1992.11747595"},{"key":"key\n\t\t\t\t20170522145955_DDH219C26","doi-asserted-by":"crossref","unstructured":"Koto, M., Miwa, M., Shimizu, A., Tsuji, K., Okamoto, M. and Adachi, J. ( 1987 ) Inherited hydrocephalus in Csk: Wistar-Imamichi rats; Hyd strain: a new disease model for hydrocephalus. Jikken Dobutsu , 36 , 157 \u2013162.","DOI":"10.1538\/expanim1978.36.2_157"},{"key":"key\n\t\t\t\t20170522145955_DDH219C27","doi-asserted-by":"crossref","unstructured":"Nakamura, Y. and Sato, K. ( 1993 ) Role of disturbance of ependymal ciliary movement in development of hydrocephalus in rats. Childs Nerv. Syst. , 9 , 65 \u201371.","DOI":"10.1007\/BF00305310"},{"key":"key\n\t\t\t\t20170522145955_DDH219C28","doi-asserted-by":"crossref","unstructured":"O'Callaghan, C., Sikand, K. and Rutman, A. ( 1999 ) Respiratory and brain ependymal ciliary function. Pediatr. Res. , 46 , 704 \u2013707.","DOI":"10.1203\/00006450-199912000-00005"},{"key":"key\n\t\t\t\t20170522145955_DDH219C29","doi-asserted-by":"crossref","unstructured":"Nguyen, T., Chin, W.C., O'Brien, J.A., Verdugo, P. and Berger, A.J. ( 2001 ) Intracellular pathways regulating ciliary beating of rat brain ependymal cells. J. Physiol. , 531 , 131 \u2013140.","DOI":"10.1111\/j.1469-7793.2001.0131j.x"},{"key":"key\n\t\t\t\t20170522145955_DDH219C30","doi-asserted-by":"crossref","unstructured":"Parr, B.A., Shea, M.J., Vassileva, G. and McMahon, A.P. ( 1993 ) Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development , 119 , 247 \u2013261.","DOI":"10.1242\/dev.119.1.247"},{"key":"key\n\t\t\t\t20170522145955_DDH219C31","doi-asserted-by":"crossref","unstructured":"Knecht, A.K., Good, P.J., Dawid, I.B. and Harland, R.M. ( 1995 ) Dorsal-ventral patterning and differentiation of noggin-induced neural tissue in the absence of mesoderm. Development , 121 , 1927 \u20131935.","DOI":"10.1242\/dev.121.6.1927"},{"key":"key\n\t\t\t\t20170522145955_DDH219C32","doi-asserted-by":"crossref","unstructured":"Walker, U.A., Bickel, M., Lutke Volksbeck, S.I., Ketelsen, U.P., Schofer, H., Setzer, B., Venhoff, N., Rickerts, V. and Staszewski, S. ( 2002 ) Evidence of nucleoside analogue reverse transcriptase inhibitor\u2014associated genetic and structural defects of mitochondria in adipose tissue of HIV-infected patients. J. Acquir. Immune. Defic. Syndr. , 29 , 117 \u2013121.","DOI":"10.1097\/00042560-200202010-00002"},{"key":"key\n\t\t\t\t20170522145955_DDH219C33","doi-asserted-by":"crossref","unstructured":"Nonaka, S., Tanaka, Y., Okada, Y., Takeda, S., Harada, A., Kanai, Y., Kido, M. and Hirokawa, N. ( 1998 ) Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell , 95 , 829 \u2013837.","DOI":"10.1016\/S0092-8674(00)81705-5"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/13\/18\/2133\/17241049\/ddh219.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T07:10:02Z","timestamp":1624518602000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddh219"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7,21]]},"references-count":33,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2004,7,21]]},"published-print":{"date-parts":[[2004,9,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddh219","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1021135.251684","asserted-by":"object"}]},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2004,7,21]]}}}