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48 results

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Filters applied: in the last 10 years, Free full text, English, Humans. Clear all
Page 1
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.
The axonemal heavy chain dynein type 11 (DNAH11) gene encodes for one of the axonemal dynein heavy chain (DHC) family members and participates in assembling respiratory cilia and sperm flagella. ...To date, few studies have reported on the association between varian …
The axonemal heavy chain dynein type 11 (DNAH11) gene encodes for one of the axonemal dynein heavy chain (DHC) family members …
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.
Notably, postinfectious bronchiolitis obliterans (PIBO) as first presentation was found in 8% of children (6/75). 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). Four genes …
Notably, postinfectious bronchiolitis obliterans (PIBO) as first presentation was found in 8% of children (6/75). Genes with the high …
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 was performed to evaluate its efficacy in achieving favorable pregnancy outcomes for individuals with DNAH11 variants. RESULTS: …
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. Schultz R, et al. BMC Med Genet. 2020 Nov 26;21(1):237. doi: 10.1186/s12881-020-01171-2. BMC Med Genet. 2020. PMID: 33243178 Free PMC article.
BACKGROUND: Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microscopy (TEM) are not applicable for mutations …
BACKGROUND: Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain …
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. ...These findings broaden the var …
Neither c.3426-1G>A nor c.4306C>T variant in the DNAH11 gene was detected in 200 healthy controls. The DNAH11 c.3 …
Genetic modifiers of APOE-ε4-associated cognitive decline.
Contreras AG, Walters S, Eissman JM, Archer DB, Regelson AN, Durant A, Clifton M, Mukherjee S, Lee ML, Choi SE, Scollard P, Trittschuh EH, Mez J, Bush WS, Kunkle BW, Cruchaga C, Naj AC, Gifford KA, Bilgel M, Kuzma AB; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC); Alzheimer’s Disease Sequencing Project (ADSP); Cuccaro ML, Pericak-Vance MA, Farrer LA, Wang LS, Schellenberg GD, Haines JL, Jefferson AL, Kukull WA, Keene CD, Saykin AJ, Thompson PM, Martin ER, Albert MS, Johnson SC, Engelman CD, Ferrucci L, Bennett DA, Barnes LL, Schneider JA, Sperling RA, Resnick SM, Crane PK, Dumitrescu L, Hohman TJ. Contreras AG, et al. Nat Commun. 2026 Feb 20;17(1):2982. doi: 10.1038/s41467-026-68933-z. Nat Commun. 2026. PMID: 41720779 Free PMC article.
Post-GWAS analyses implicate additional genes including SLCO1A2, and DNAH11. Genetic correlation analyses reveal differences by APOE-epsilon4 status for immune-related traits, suggesting immune-related predispositions may exacerbate cognitive risk in APOE-epsilon4 c …
Post-GWAS analyses implicate additional genes including SLCO1A2, and DNAH11. Genetic correlation analyses reveal differences b …
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H. Raidt J, et al. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug. Eur Respir J. 2024. PMID: 38871375 Free PMC article.
We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV(1). RESULTS: The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found consi …
We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects a …
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 …
(Arg2596Gln), rs780492669), in the dynein axonemal heavy chain 11 gene (DNAH11) were identified and confirmed as the disease-a …
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.
The DNAH11 gene showed the highest mutation rate (16.7%; 14 of 84 alleles) among the CHD patients with heterotaxy. ...These findings suggest that the DNAH11 variants are significantly associated with CHD and heterotaxy syndrome and that compound heterozygous …
The DNAH11 gene showed the highest mutation rate (16.7%; 14 of 84 alleles) among the CHD patients with heterotaxy. ...These fi …
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Staar BO, Hegermann J, Auber B, Ewen R, von Hardenberg S, Olmer R, Pink I, Rademacher J, Wetzke M, Ringshausen FC. Staar BO, et al. Cells. 2023 Nov 18;12(22):2651. doi: 10.3390/cells12222651. Cells. 2023. PMID: 37998386 Free PMC article.
However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncertain significance in approximately 30% of tested individuals. ...We recruited 16 patients with VUS in CCDC39, CCDC40, CCDC103, DNAH …
However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes …
48 results