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DNAH5
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<h2 id="external-links">External links</h2> <ul><li><a href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd">GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Jouannet P, Escaller D, Serres C, David G (1983). "Motility of human sperm without outer dynein arms". <i>J. Submicrosc. Cytol</i>. 15 (1): 67–71. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/6221120">6221120</a>.</li> <li>Vaughan KT, Mikami A, Paschal BM, et al. (1997). "Multiple mouse chromosomal loci for dynein-based motility". <i>Genomics</i>. 36 (1): 29–38. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1996.0422">10.1006/geno.1996.0422</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8812413">8812413</a>.</li> <li>Neesen J, Koehler MR, Kirschner R, et al. (1997). "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene". <i>Gene</i>. 200 (1–2): 193–202. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0378-1119%2897%2900417-4">10.1016/S0378-1119(97)00417-4</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9373155">9373155</a>.</li> <li>Nagase T, Kikuno R, Nakayama M, et al. (2001). <a href="https://doi.org/10.1093%2Fdnares%2F7.4.271">"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro"</a>. <i>DNA Res</i>. 7 (4): 273–81. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fdnares%2F7.4.271">10.1093/dnares/7.4.271</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10997877">10997877</a>.</li> <li>Omran H, Häffner K, Völkel A, et al. (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". <i>Am. J. Respir. Cell Mol. Biol</i>. 23 (5): 696–702. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1165%2Fajrcmb.23.5.4257">10.1165/ajrcmb.23.5.4257</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11062149">11062149</a>.</li> <li>Ota T, Suzuki Y, Nishikawa T, et al. (2004). <a href="https://doi.org/10.1038%2Fng1285">"Complete sequencing and characterization of 21,243 full-length human cDNAs"</a>. <i>Nat. Genet</i>. 36 (1): 40–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1285">10.1038/ng1285</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14702039">14702039</a>.</li> <li>Horváth J, Fliegauf M, Olbrich H, et al. (2005). <a href="https://cdr.lib.unc.edu/downloads/dz010w61k">"Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients"</a>. <i>Am. J. Respir. Cell Mol. Biol</i>. 33 (1): 41–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1165%2Frcmb.2004-0335OC">10.1165/rcmb.2004-0335OC</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15845866">15845866</a>.</li> <li>Olbrich H, Horváth J, Fekete A, et al. (2006). <a href="https://doi.org/10.1203%2F01.pdr.0000200809.21364.e2">"Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia"</a>. <i>Pediatr. Res</i>. 59 (3): 418–22. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1203%2F01.pdr.0000200809.21364.e2">10.1203/01.pdr.0000200809.21364.e2</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16492982">16492982</a>.</li> <li>Hornef N, Olbrich H, Horvath J, et al. (2006). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662904">"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects"</a>. <i>Am. J. Respir. Crit. Care Med</i>. 174 (2): 120–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1164%2Frccm.200601-084OC">10.1164/rccm.200601-084OC</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662904">2662904</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16627867">16627867</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S (Sep 1997). "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment". FEBS Lett. 412 (2): 325–30. doi:10.1016/S0014-5793(97)00800-4. PMID 9256245. S2CID 23935907. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H (Jan 2002). "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry". Nat Genet. 30 (2): 143–4. doi:10.1038/ng817. PMID 11788826. S2CID 1603234. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1767" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1767</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>DNAH5 gene - Genetics Home Reference - NIH. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/DNAH5. Accessed April 15, 2019. <a href="https://ghr.nlm.nih.gov/gene/DNAH5" target="_blank">https://ghr.nlm.nih.gov/gene/DNAH5</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatric Pulmonology. 2012;47(9):864-875. doi:10.1002/ppul.22520. <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Andjelkovic M, Minic P, Vreca M, et al. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLOS ONE. 2018;13(10). doi:10.1371/journal.pone.0205422. <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. Journal of Assisted Reproduction and Genetics. 2016;34(2):275-281. doi:10.1007/s10815-016-0849-3. <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> </ol>