| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Meng-Yang Li, Shan Huang, Li-Na Ma, An-Cong Wan. [Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene]. Zhonghua nan ke xue = National journal of andrology. vol 30. issue 1. 2024-07-24. PMID:39046413. |
[clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the dnah5 gene]. |
2024-07-24 |
2024-07-26 |
Not clear |
| Xiu-Juan Yao, Qian Chen, Hong-Ping Yu, Dan-Dan Ruan, Shi-Jie Li, Min Wu, Li-Sheng Liao, Xin-Fu Lin, Zhu-Ting Fang, Jie-Wei Luo, Bao-Song Xi. A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification. BMC pulmonary medicine. vol 24. issue 1. 2024-07-17. PMID:39014333. |
a novel splicing mutation dnah5 c.13,338 + 5g > c is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification. |
2024-07-17 |
2024-07-19 |
Not clear |
| Yu Shi, Qihong Lei, Qing Ha. Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report. Medicine. vol 102. issue 52. 2024-01-11. PMID:38206729. |
to analyze clinical and imaging features, ciliary structure and family gene mutation loci of a primary ciliary dyskinesia (pcd) boy with a dual-allele heterozygous mutation of dnah5. |
2024-01-11 |
2024-01-14 |
Not clear |
| Yu Shi, Qihong Lei, Qing Ha. Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report. Medicine. vol 102. issue 52. 2024-01-11. PMID:38206729. |
dual-allele heterozygous mutation of dnah5 gene in a boy with primary ciliary dyskinesia: a case report. |
2024-01-11 |
2024-01-14 |
Not clear |
| Binyi Yang, Cheng Lei, Yingjie Xu, Danhui Yang, Chenyang Lu, Ying Liu, Ting Guo, Hong Lu. Whole-exome sequencing identified novel DNAH5 homozygous variants in two consanguineous families with primary ciliary dyskinesia. Chinese medical journal. 2023-06-15. PMID:37319416. |
whole-exome sequencing identified novel dnah5 homozygous variants in two consanguineous families with primary ciliary dyskinesia. |
2023-06-15 |
2023-08-14 |
Not clear |
| Wenhao Yang, Lina Chen, Juncen Guo, Fang Shi, Qingxin Yang, Liang Xie, Danli Lu, Yingna Li, Jiaxin Luo, Li Wang, Li Qiu, Ting Chen, Yan Li, Rui Zhang, Lu Chen, Wenming Xu, Hanmin Li. Multiomics Analysis of a Cells. vol 11. issue 24. 2022-12-23. PMID:36552777. |
multiomics analysis of a dynein axonemal heavy chain 5 (dnah5) is the most mutated gene in primary ciliary dyskinesia (pcd), leading to abnormal cilia ultrastructure and function. |
2022-12-23 |
2023-08-14 |
Not clear |
| Atsushi Kurokawa, Mitsuko Kondo, Mami Orimo, Nahoko Honda, Azusa Miyoshi, Tomohiro Akaba, Mayoko Tsuji, Kaname Nakatani, Makoto Ikejiri, Osamitsu Yagi, Kiyoshi Takeyama, Kazuhiko Takeuchi, Etsuko Tagay. Multifaceted analysis of Japanese cases of primary ciliary dyskinesia: Value of immunofluorescence for ciliary protein detection in patients with DNAH5 and DNAH11 mutations. Respiratory investigation. vol 59. issue 4. 2021-10-26. PMID:33589394. |
multifaceted analysis of japanese cases of primary ciliary dyskinesia: value of immunofluorescence for ciliary protein detection in patients with dnah5 and dnah11 mutations. |
2021-10-26 |
2023-08-13 |
Not clear |
| Nora Drick, Julia Dahlmann, Anais Sahabian, Alexandra Haase, Gudrun Göhring, Nico Lachmann, Felix C Ringshausen, Tobias Welte, Ulrich Martin, Ruth Olme. Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene. Stem cell research. vol 46. 2021-06-21. PMID:32470793. |
generation of two human induced pluripotent stem cell lines (mhhi017-a, mhhi017-b) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915c > t [p.arg2639*]) in the dnah5 gene. |
2021-06-21 |
2023-08-13 |
human |
| Nora Drick, Julia Dahlmann, Anais Sahabian, Alexandra Haase, Gudrun Göhring, Nico Lachmann, Felix C Ringshausen, Tobias Welte, Ulrich Martin, Ruth Olme. Generation of two human induced pluripotent stem cell lines (MHHi017-A, MHHi017-B) from a patient with primary ciliary dyskinesia carrying a homozygous mutation (c.7915C > T [p.Arg2639*]) in the DNAH5 gene. Stem cell research. vol 46. 2021-06-21. PMID:32470793. |
mutations in the dnah5 gene lead to impaired ciliary function and are linked to primary ciliary dyskinesia (pcd), a rare autosomal recessive disorder. |
2021-06-21 |
2023-08-13 |
human |
| Yanwei Sha, Lin L. [Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 38. issue 5. 2021-05-13. PMID:33974255. |
[analysis of a patient with primary ciliary dyskinesia caused by dnah5 variants]. |
2021-05-13 |
2023-08-13 |
Not clear |
| Alexander H Li, Neil A Hanchard, Mahshid Azamian, Lisa C A D'Alessandro, Zeynep Coban-Akdemir, Keila N Lopez, Nancy J Hall, Heather Dickerson, Annarita Nicosia, Susan Fernbach, Philip M Boone, Tomaz Gambin, Ender Karaca, Shen Gu, Bo Yuan, Shalini N Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Huyen Dinh, Joy Jayaseelan, Donna Muzny, Seema Lalani, Jeffrey Towbin, Daniel Penny, Charles Fraser, James Martin, James R Lupski, Richard A Gibbs, Eric Boerwinkle, Stephanie M Ware, John W Belmon. Genetic architecture of laterality defects revealed by whole exome sequencing. European journal of human genetics : EJHG. vol 27. issue 4. 2020-06-15. PMID:30622330. |
a total of 28 candidate variants (26 rare predicted-damaging variants and 2 hemizygous deletions) were identified, including variants in genes known to cause heterotaxy and primary ciliary dyskinesia (acvr2b, nodal, zic3, dnai1, dnah5, hydin, mmp21), and genes without a human phenotype association, but with prior evidence for a role in embryonic laterality or cardiac development. |
2020-06-15 |
2023-08-13 |
human |
| Mami Orimo, Mitsuko Kondo, Kiyoshi Takeyama, Kazuhiro Abe, Azusa Miyoshi, Nahoko Honda, Asuka Ichikawa, Kazuhiko Takeuchi, Etsuko Tagay. A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations. Internal medicine (Tokyo, Japan). vol 58. issue 16. 2019-12-06. PMID:31118369. |
a japanese case of primary ciliary dyskinesia with dnah5 mutations. |
2019-12-06 |
2023-08-13 |
Not clear |
| Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, Takao Fujisaw. Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. Molecular medicine reports. vol 14. issue 6. 2017-04-07. PMID:27779714. |
whole-exome sequencing identification of novel dnah5 mutations in a young patient with primary ciliary dyskinesia. |
2017-04-07 |
2023-08-13 |
Not clear |
| Mieke Boon, Julia Wallmeier, Lina Ma, Niki Tomas Loges, Martine Jaspers, Heike Olbrich, Gerard W Dougherty, Johanna Raidt, Claudius Werner, Israel Amirav, Avigdor Hevroni, Revital Abitbul, Avraham Avital, Ruth Soferman, Marja Wessels, Christopher O'Callaghan, Eddie M K Chung, Andrew Rutman, Robert A Hirst, Eduardo Moya, Hannah M Mitchison, Sabine Van Daele, Kris De Boeck, Mark Jorissen, Chris Kintner, Harry Cuppens, Heymut Omra. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nature communications. vol 5. 2016-04-26. PMID:25048963. |
mcidas mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (dnah5; ccdc39) as seen in primary ciliary dyskinesia. |
2016-04-26 |
2023-08-13 |
human |
| Jing Zhang, Liping Guan, Weiping Wen, Yu Lu, Qianyan Zhu, Huijun Yuan, Yulan Chen, Hongtian Wang, Jianguo Zhang, Huabin L. A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. vol 271. issue 6. 2015-01-02. PMID:24150548. |
a novel mutation of dnah5 in chronic rhinosinusitis and primary ciliary dyskinesia in a chinese family. |
2015-01-02 |
2023-08-12 |
human |
| Jana Djakow, Tamara Svobodová, Karel Hrach, Jiří Uhlík, Ondřej Cinek, Petr Pohune. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatric pulmonology. vol 47. issue 9. 2013-01-08. PMID:22416021. |
effectiveness of sequencing selected exons of dnah5 and dnai1 in diagnosis of primary ciliary dyskinesia. |
2013-01-08 |
2023-08-12 |
Not clear |
| M Failly, L Bartoloni, A Letourneau, A Munoz, E Falconnet, C Rossier, M M de Santi, F Santamaria, O Sacco, C D DeLozier-Blanchet, R Lazor, J-L Bloui. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Journal of medical genetics. vol 46. issue 4. 2009-05-28. PMID:19357118. |
mutations in dnah5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. |
2009-05-28 |
2023-08-12 |
Not clear |
| Nada Hornef, Heike Olbrich, Judit Horvath, Maimoona A Zariwala, Manfred Fliegauf, Niki Tomas Loges, Johannes Wildhaber, Peadar G Noone, Marcus Kennedy, Stylianos E Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüsslein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R Knowles, Richard Reinhardt, Heymut Omra. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. American journal of respiratory and critical care medicine. vol 174. issue 2. 2006-08-29. PMID:16627867. |
dnah5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. |
2006-08-29 |
2023-08-12 |
Not clear |
| Heike Olbrich, Judit Horváth, Andrea Fekete, Niki Tomas Loges, Karin Storm van's Gravesande, Andreas Blum, Karl Hörmann, Heymut Omra. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Pediatric research. vol 59. issue 3. 2006-05-02. PMID:16492982. |
axonemal localization of the dynein component dnah5 is not altered in secondary ciliary dyskinesia. |
2006-05-02 |
2023-08-12 |
human |
| Manfred Fliegauf, Heike Olbrich, Judit Horvath, Johannes H Wildhaber, Maimoona A Zariwala, Marcus Kennedy, Michael R Knowles, Heymut Omra. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. American journal of respiratory and critical care medicine. vol 171. issue 12. 2005-08-11. PMID:15750039. |
mislocalization of dnah5 and dnah9 in respiratory cells from patients with primary ciliary dyskinesia. |
2005-08-11 |
2023-08-12 |
Not clear |