| Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma. | Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.
Song Z, Song X, Li H, Cheng Z, Mo Z, Yang X., Free PMC Article | 12/4/2023 |
| Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. | Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Xu Y, Feng G, Yano T, Masuda S, Nagao M, Gotoh S, Ikejiri M, Tanabe M, Takeuchi K. | 07/3/2023 |
| DNAH5 gene and its correlation with linc02220 expression and sperm characteristics. | DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.
Kamel A, Saberiyan M, Adelian S, Teimori H. | 10/8/2022 |
| Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness. | Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
Joo J, Mak ACY, Xiao S, Sleiman PM, Hu D, Huntsman S, Eng C, Kan M, Diwakar AR, Lasky-Su JA, Weiss ST, Sordillo JE, Wu AC, Cloutier M, Canino G, Forno E, Celedón JC, Seibold MA, Hakonarson H, Williams LK, Burchard EG, Himes BE., Free PMC Article | 08/6/2022 |
| Novel homozygous mutations of DNAH5 in Kartagener syndrome. | Novel homozygous mutations of DNAH5 in Kartagener syndrome.
Cheng XD, Ni F, Lu Y., Free PMC Article | 07/30/2022 |
| Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review. | Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
Wang L, Zhao X, Liang H, Zhang L, Li C, Li D, Meng X, Meng F, Gao M., Free PMC Article | 01/15/2022 |
| Genome-wide association analysis of cognitive function in Danish long-lived individuals. | Genome-wide association analysis of cognitive function in Danish long-lived individuals.
Nygaard M, Dowsett J, McGue M, Christensen K, Christiansen L, Tan Q, Mengel-From J., Free PMC Article | 11/22/2021 |
| We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). . Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified. | Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
Bieder A, Einarsdottir E, Matsson H, Nilsson HE, Eisfeldt J, Dragomir A, Paucar M, Granberg T, Li TQ, Lindstrand A, Kere J, Tapia-Páez I., Free PMC Article | 07/18/2020 |
| Both DNAH5 and ADGRV1 contribute to ciliary function. | A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions.
Sugier PE, Brossard M, Sarnowski C, Vaysse A, Morin A, Pain L, Margaritte-Jeannin P, Dizier MH, Cookson WOCM, Lathrop M, Moffatt MF, Laprise C, Demenais F, Bouzigon E. | 08/3/2019 |
| A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. | A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.
Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K. | 10/20/2018 |
| to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient. | Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.
Kano G, Tsujii H, Takeuchi K, Nakatani K, Ikejiri M, Ogawa S, Kubo H, Nagao M, Fujisawa T., Free PMC Article | 04/8/2017 |
| These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis. | Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations.
Xu X, Gong P, Wen J., Free PMC Article | 03/18/2017 |
| The mutation of p.Glu2610Gly in DNAH5 is novel. | A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome.
Tate G, Tajiri T, Kishimoto K, Mitsuya T. | 03/26/2016 |
| In chronic obstructive pulmonary disease, total lung capacity was associated with a SNP in DNAH5. | DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease.
Lee JH, McDonald ML, Cho MH, Wan ES, Castaldi PJ, Hunninghake GM, Marchetti N, Lynch DA, Crapo JD, Lomas DA, Coxson HO, Bakke PS, Silverman EK, Hersh CP, COPDGene and ECLIPSE Investigators., Free PMC Article | 04/18/2015 |
| A novel mutation in DNAH5 (c. 8030G>A) is identified in a Han Chinese family with chronic rhinosinusitis and primary ciliary dyskinesia. | A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.
Zhang J, Guan L, Wen W, Lu Y, Zhu Q, Yuan H, Chen Y, Wang H, Zhang J, Li H. | 01/3/2015 |
| DNAH5 (rs2277046) is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. | Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
Cheong KA, Kim NH, Noh M, Lee AY., Free PMC Article | 12/14/2013 |
| DNAH5 is the cause of primary ciliary dyskinesia in two siblings in a nuclear family as identified by whole genome sequencing. | Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ., Free PMC Article | 02/3/2011 |
| Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) | Gene-environment interaction in the etiology of mathematical ability using SNP sets.
Docherty SJ, Kovas Y, Plomin R., Free PMC Article | 12/5/2010 |
| Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families | Primary ciliary dyskinesia: improving the diagnostic approach.
Leigh MW, Zariwala MA, Knowles MR., Free PMC Article | 01/21/2010 |
| Two "major" genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects | Ciliary defects and genetics of primary ciliary dyskinesia.
Escudier E, Duquesnoy P, Papon JF, Amselem S. | 01/21/2010 |
| Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene. | Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL, Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. | 01/21/2010 |
| Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. | Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C, Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL, Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C, Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C. | 06/4/2008 |
| immunofluorescence studies of respiratory epithelial cells with secondary ciliary dyskinesia identified in vitro and in vivo normal axonemal DNAH5 localization | Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.
Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's Gravesande K, Blum A, Hörmann K, Omran H. | 01/21/2010 |
| DNAH5 is frequently mutated in patients with primary ciliary dyskinesia exhibiting outer dynein arm defects and mutations cluster in five exons. | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H., Free PMC Article | 01/21/2010 |