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Page 1
Primary Ciliary Dyskinesia.
Zariwala MA, Knowles MR, Leigh MW. Zariwala MA, et al. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Jan 24 [updated 2019 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301301 Free Books & Documents. Review.
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. Xia H, et al. PLoS One. 2021 Jun 16;16(6):e0252786. doi: 10.1371/journal.pone.0252786. eCollection 2021. PLoS One. 2021. PMID: 34133440 Free PMC article.
Neither c.3426-1G>A nor c.4306C>T variant in the DNAH11 gene was detected in 200 healthy controls. The DNAH11 c.3426-1G>A variant was predicted as altering the acceptor splice site and most likely affecting splicing. The DNAH11 c.4306C>T variant w …
Neither c.3426-1G>A nor c.4306C>T variant in the DNAH11 gene was detected in 200 healthy controls. The DNAH11 c.3426-1G& …
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. Liu S, et al. Sci Rep. 2019 Apr 30;9(1):6683. doi: 10.1038/s41598-019-43109-6. Sci Rep. 2019. PMID: 31040315 Free PMC article.
Fisher's exact test revealed a significant association of DNAH11 variants with CHD and heterotaxy (P = 0.0001). In families, six different compound heterozygous variants of DNAH11 were validated in family 1-5031 (p.W802X/p.M282I), family 2-5045 (p.T3460K/p.G4425S), …
Fisher's exact test revealed a significant association of DNAH11 variants with CHD and heterotaxy (P = 0.0001). In families, six diff …
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. Zhu D, et al. Biosci Rep. 2019 Jun 20;39(6):BSR20181450. doi: 10.1042/BSR20181450. Print 2019 Jun 28. Biosci Rep. 2019. PMID: 31160482 Free PMC article.
Given the high degree of conservation of DNAH11, mutations could give rise to primary ciliary dyskinesia (PCD) and asthenozoospermia. To date, few studies have reported on the association between variants in DNAH11 and asthenozoospermia. In the present study, 87 pat …
Given the high degree of conservation of DNAH11, mutations could give rise to primary ciliary dyskinesia (PCD) and asthenozoospermia. …
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. Dougherty GW, et al. Am J Respir Cell Mol Biol. 2016 Aug;55(2):213-24. doi: 10.1165/rcmb.2015-0353OC. Am J Respir Cell Mol Biol. 2016. PMID: 26909801 Free PMC article.
IFM analysis demonstrated native DNAH11 localization in only the proximal region of wild-type human respiratory cilia and loss of DNAH11 in individuals with PCD with certain loss-of-function DNAH11 mutations. ...TEM tomography detected a partial reduction of …
IFM analysis demonstrated native DNAH11 localization in only the proximal region of wild-type human respiratory cilia and loss of …
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X. Guan Y, et al. Chest. 2021 May;159(5):1768-1781. doi: 10.1016/j.chest.2021.02.006. Epub 2021 Feb 10. Chest. 2021. PMID: 33577779 Free PMC article.
Genes with the highest incidence of mutations were DNAH11 (15/51), followed by DNAH5 (9/51), CCDC39 (5/51), DNAH1 (4/51), and CCNO (3/51). ...
Genes with the highest incidence of mutations were DNAH11 (15/51), followed by DNAH5 (9/51), CCDC39 (5/51), DNAH1 (4/51), and CCNO (3 …
DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature.
Sodeifian F, Samieefar N, Shahkarami S, Rayzan E, Seyedpour S, Rohlfs M, Klein C, Babaie D, Rezaei N. Sodeifian F, et al. Case Rep Med. 2023 Apr 25;2023:8436715. doi: 10.1155/2023/8436715. eCollection 2023. Case Rep Med. 2023. PMID: 37153356 Free PMC article.
During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. DNAH11 (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia's protein and encodes the outer dynein a …
During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. DN …
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.
Guo S, Tang D, Chen Y, Yu H, Gu M, Geng H, Fang J, Wu B, Ruan L, Li K, Xu C, Gao Y, Tan Q, Duan Z, Wu H, Hua R, Guo R, Wei Z, Zhou P, Xu Y, Cao Y, He X, Sha Y, Lv M. Guo S, et al. Hum Genomics. 2024 Sep 11;18(1):97. doi: 10.1186/s40246-024-00658-w. Hum Genomics. 2024. PMID: 39256880 Free PMC article.
ICSI was performed to evaluate its efficacy in achieving favorable pregnancy outcomes for individuals with DNAH11 variants. RESULTS: In this study, we identified seven novel variants in the DNAH11 gene in four asthenoteratozoospermia subjects. ...Importantly, ICSI e …
ICSI was performed to evaluate its efficacy in achieving favorable pregnancy outcomes for individuals with DNAH11 variants. RESULTS: …
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. Xiong Y, et al. J Cell Mol Med. 2021 Sep;25(18):9028-9037. doi: 10.1111/jcmm.16866. Epub 2021 Aug 18. J Cell Mol Med. 2021. PMID: 34405951 Free PMC article.
(Arg2596Gln), rs780492669), in the dynein axonemal heavy chain 11 gene (DNAH11) were identified and confirmed as the disease-associated variants of this lineage. The minigene expression in vitro revealed that the c.1974-1G>C variant could cause skipping over exon 12, pr …
(Arg2596Gln), rs780492669), in the dynein axonemal heavy chain 11 gene (DNAH11) were identified and confirmed as the disease-associat …
148 results