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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, Bean LJH, Gripp KW, 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, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301301 Free Books & Documents. Review.
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Touré A, Zhang F, Ikawa M. Liu C, et al. Am J Hum Genet. 2020 Aug 6;107(2):330-341. doi: 10.1016/j.ajhg.2020.06.004. Epub 2020 Jul 2. Am J Hum Genet. 2020. PMID: 32619401 Free PMC article.
Immunofluorescence assays performed on the spermatozoa from men harboring bi-allelic DNAH8 variants revealed the absent or markedly reduced staining of DNAH8 and its associated protein DNAH17. Dnah8-knockout male mice also presented typical MMAF phenotypes an …
Immunofluorescence assays performed on the spermatozoa from men harboring bi-allelic DNAH8 variants revealed the absent or markedly r …
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
Weng M, Sha Y, Zeng YU, Huang N, Liu W, Zhang X, Zhou H. Weng M, et al. Acta Biochim Biophys Sin (Shanghai). 2021 Mar 26;53(4):472-480. doi: 10.1093/abbs/gmab013. Acta Biochim Biophys Sin (Shanghai). 2021. PMID: 33704367 Free article.
Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8 (MIM:603337) may be responsible for multiple morphological abnormalities of the sperm flagella (MMAF). ...Therefore, the compound heterozygous mutations in the DNA …
Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8 (MIM:603337) may be respon …
A novel splicing variant in DNAH8 causes asthenozoospermia.
Zhou Z, Mao X, Chen B, Mu J, Wang W, Li B, Yan Z, Dong J, Li Q, Kuang Y, Wang L, Wu L, Sang Q. Zhou Z, et al. J Assist Reprod Genet. 2021 Jun;38(6):1545-1550. doi: 10.1007/s10815-021-02116-1. Epub 2021 Feb 20. J Assist Reprod Genet. 2021. PMID: 33611675 Free PMC article.
RESULTS: We identified a novel homozygous splicing variant c.6311-2A>G in DNAH8 from two affected brothers belonging to the same consanguineous family. ...CONCLUSIONS: This finding expands the mutational spectrum of DNAH8, making it a potential genetic diagnostic …
RESULTS: We identified a novel homozygous splicing variant c.6311-2A>G in DNAH8 from two affected brothers belonging to the same c …
Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
Yang Y, Jiang C, Zhang X, Liu X, Li J, Qiao X, Liu H, Shen Y. Yang Y, et al. Clin Genet. 2020 Oct;98(4):396-401. doi: 10.1111/cge.13815. Epub 2020 Jul 30. Clin Genet. 2020. PMID: 32681648
However, the MMAF-associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss-of-function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression w …
However, the MMAF-associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss-of-function mutation of DNA …
Whole-exome sequencing study of hypospadias.
Chen Z, Lei Y, Finnell RH, Ding Y, Su Z, Wang Y, Xie H, Chen F. Chen Z, et al. iScience. 2023 Apr 12;26(5):106663. doi: 10.1016/j.isci.2023.106663. eCollection 2023 May 19. iScience. 2023. PMID: 37168556 Free PMC article.
Additionally, rare damaging variants in cilia-related outer dynein arm heavy chain (ODNAH) genes (DNAH5, DNAH8, DNAH9, DNAH11, and DNAH17) (p = 8.5 10(-47)) were significantly enriched in hypospadias cases. The Dnah8 KO mice exhibited significantly decreased testost …
Additionally, rare damaging variants in cilia-related outer dynein arm heavy chain (ODNAH) genes (DNAH5, DNAH8, DNAH9, DNAH11, and DN …
A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
Dil S, Khan A, Unar A, Yang ML, Ali I, Zeb A, Zhang H, Zhou JT, Zubair M, Khan K, Bai S, Shi QH. Dil S, et al. Asian J Androl. 2023 May-Jun;25(3):350-355. doi: 10.4103/aja202274. Asian J Androl. 2023. PMID: 36308074 Free PMC article.
Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. Hematoxylin-eosin staining and transmission electron microscopy revealed highly divergent morphology and ultrastructure of sperm flagella i …
Reverse transcription-polymerase chain reaction (RT-PCR) confirmed DNAH8 mRNA decay in these patients with the DNAH8 mutation. …
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.
We recruited 16 patients with VUS in CCDC39, CCDC40, CCDC103, DNAH5, DNAH5/CCDC40, DNAH8/HYDIN, DNAH11, and DNAI1 as well as variants in the PCD candidate genes DNAH1, DNAH7, NEK10, and NME5. We found normal ciliary ultrastructure in eight patients with VUS in CCDC39, DNAH …
We recruited 16 patients with VUS in CCDC39, CCDC40, CCDC103, DNAH5, DNAH5/CCDC40, DNAH8/HYDIN, DNAH11, and DNAI1 as well as variants …
Dynein axonemal heavy chain 8 promotes androgen receptor activity and associates with prostate cancer progression.
Wang Y, Ledet RJ, Imberg-Kazdan K, Logan SK, Garabedian MJ. Wang Y, et al. Oncotarget. 2016 Aug 2;7(31):49268-49280. doi: 10.18632/oncotarget.10284. Oncotarget. 2016. PMID: 27363033 Free PMC article.
Androgen treatment increased DNAH8 mRNA expression, and AR bound the DNAH8 promoter sequence indicating DNAH8 is an AR target gene. Thus, DNAH8 is a new regulator of AR associated with metastatic tumors and poor prognosis....
Androgen treatment increased DNAH8 mRNA expression, and AR bound the DNAH8 promoter sequence indicating DNAH8 is an AR …
Admixture Mapping in African Americans Identifies New Risk Loci for HCV-Related Cirrhosis.
Kim HS, Shetty PB, Tsavachidis S, Dong J, Amos CI, El-Serag HB, Thrift AP. Kim HS, et al. Clin Gastroenterol Hepatol. 2023 Apr;21(4):1023-1030.e39. doi: 10.1016/j.cgh.2022.05.020. Epub 2022 Jun 6. Clin Gastroenterol Hepatol. 2023. PMID: 35680035 Free PMC article.
In the fine-mapping analysis, we identified regions near POTEKP on 2q21.1 (P = .0001) and DNAH8 on 6p21.2 (P = .0017) that were associated with cirrhosis. ...
In the fine-mapping analysis, we identified regions near POTEKP on 2q21.1 (P = .0001) and DNAH8 on 6p21.2 (P = .0017) that were assoc …
37 results