| First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. | First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, Sheffield H, Zariwala MA, Knowles MR, Lehman A, Dell S, Shapiro AJ, Kovesi TA., Free PMC Article | 06/21/2023 |
| A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia. | A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Shapiro AJ, Stonebraker JR, Knowles MR, Zariwala MA., Free PMC Article | 01/14/2023 |
| Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries. | Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.
De Ita M, Gaytán-Cervantes J, Cisneros B, Araujo MA, Huicochea-Montiel JC, Cárdenas-Conejo A, Lazo-Cárdenas CC, Ramírez-Portillo CI, Feria-Kaiser C, Peregrino-Bejarano L, Yáñez-Gutiérrez L, González-Torres C, Rosas-Vargas H., Free PMC Article | 10/22/2022 |
| Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia. | Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
Xiong Y, Xia H, Yuan L, Deng S, Ding Z, Deng H., Free PMC Article | 02/26/2022 |
| DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease. | DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Xia H, Huang X, Deng S, Xu H, Yang Y, Liu X, Yuan L, Deng H., Free PMC Article | 01/8/2022 |
| Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. | Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
Schultz R, Elenius V, Lukkarinen H, Saarela T., Free PMC Article | 01/9/2021 |
| DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome. | DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
Liu S, Chen W, Zhan Y, Li S, Ma X, Ma D, Sheng W, Huang G., Free PMC Article | 11/28/2020 |
| The variant c.9484-1 G>T was confirmed as a novel virulence variant which was predicted to affect splicing by Human Splicing Finder 3.1. And c.12428 T>C was predicted to be mildly pathogenic in silico analysis. We found that DNAH11 polymorphisms display strong associations with asthenozoospermia, and may contribute to an increased risk of male infertility in Chinese patients. | Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients.
Zhu D, Zhang H, Wang R, Liu X, Jiang Y, Feng T, Liu R, Zhang G., Free PMC Article | 08/13/2020 |
| 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 |
| The rs2285947 variant of DNAH11 was found to be significantly associated with both ovarian and breast cancers in a cohort of women in India. | Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer.
Verma S, Bakshi D, Sharma V, Sharma I, Shah R, Bhat A, Bhat GR, Sharma B, Wakhloo A, Kaul S, Heer V, Bhat A, Abrol D, Verma V, Kumar R. | 02/15/2020 |
| study demonstrated that the polymorphisms rs2494938 at 6p21.1 and rs2285947 at 7p15.3 may serve as independent prognostic biomarkers for ESCC, implying the potential biological role of their related genes (LRFN2 and DNAH11) in the process of ESCC development | Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma.
Wang J, Wang Q, Wei B, Zhou Y, Qian Z, Gao Y, Chen X., Free PMC Article | 10/5/2019 |
| DNAH11 mutations result in a characteristic abnormality of the ciliary ultrastructure detectable by electron tomography, but not traditional transmission electron microscopy | Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Shoemark A, Burgoyne T, Kwan R, Dixon M, Patel MP, Rogers AV, Onoufriadis A, Scully J, Daudvohra F, Cullup T, Loebinger MR, Wilson R, Chung EMK, Bush A, Mitchison HM, Hogg C. | 06/22/2019 |
| Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans | Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP., Free PMC Article | 07/22/2017 |
| DNAH11 mutations result in a subtle outer dynein arm defect in only the proximal region of respiratory cilia. | DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H., Free PMC Article | 07/1/2017 |
| In an epithelial cell line engineered to contain the DNAH11 target site, TALENs cleaved over 80% of the mutated DNAH11 sequence and replaced the mutated sequence with wild-type sequence in about 50% of cells. This study demonstrates that gene editing can rescue ciliary beating ex vivo, opening up new avenues for treating Primary ciliary dyskinesia. | Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, del Grosso A, Quaranta P, Cursi C, Tantillo E, Franceschi S, Mazzanti MC, Simi P, Saggese G, Boner A, Pistello M. | 12/17/2016 |
| Mutations in DNAH11 are a common cause of PCD in patients without ciliary ultrastructural defects; thus, genetic analysis can be used to ascertain the diagnosis of PCD in this challenging group of patients. | Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA, Genetic Disorders of Mucociliary Clearance Consortium., Free PMC Article | 09/1/2012 |
| mutations: splice site in acceptor splice site of exon 5 and nonsense mutation located in exon 23 for DNAH11 in primary ciliary dyskinesia | New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.
Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL. | 09/13/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| 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 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Döring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L, ENGAGE Consortium., Free PMC Article | 01/11/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | 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. | 06/4/2008 |
| These findings support the view that DNAH11 mutations indeed cause Primary ciliary dyskinesia and Kartagener syndrome, and that the reported DNAH11 nonsense mutations are associated with a normal axonemal ultrastructure. | Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. | 01/21/2010 |
| mutations in the DNAH11 gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia | Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE., Free PMC Article | 01/21/2010 |
| Dynein plays an unexpected role in the regulation of mitochondrial morphology in living cells, by controlling the recruitment of Drp1 to these organelles. | Cytoplasmic dynein regulates the subcellular distribution of mitochondria by controlling the recruitment of the fission factor dynamin-related protein-1.
Varadi A, Johnson-Cadwell LI, Cirulli V, Yoon Y, Allan VJ, Rutter GA. | 01/21/2010 |
| a specific requirement for p150(Glued)/dynein/functional microtubules in activation of MKK3/6 and p38 MAPKs in vivo. | p150(Glued), Dynein, and microtubules are specifically required for activation of MKK3/6 and p38 MAPKs.
Cheung PY, Zhang Y, Long J, Lin S, Zhang M, Jiang Y, Wu Z. | 01/21/2010 |