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Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.
Zheng R, Yang W, Wen Y, Xie L, Shi F, Lu D, Luo J, Li Y, Zhang R, Chen T, Chen L, Xu W, Liu H. Zheng R, et al. Cell Death Dis. 2022 Jun 21;13(6):559. doi: 10.1038/s41419-022-05010-5. Cell Death Dis. 2022. PMID: 35729109 Free PMC article.
Bioinformatic analysis, structure simulation assay, and western blot analysis showed that the mutations affected the structure and expression of DNAH9 protein. Dnah9 knock-down (KD) mice recapitulated the patient phenotypes, including low lung function, mucin accumu …
Bioinformatic analysis, structure simulation assay, and western blot analysis showed that the mutations affected the structure and expressio …
Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
Chen W, Zhang Y, Shen L, Zhu J, Cai K, Lu Z, Zeng W, Zhao J, Zhou X. Chen W, et al. Hum Genet. 2022 Aug;141(8):1339-1353. doi: 10.1007/s00439-021-02426-5. Epub 2022 Jan 20. Hum Genet. 2022. PMID: 35050399
Through whole exome sequencing (WES), we identified compound heterozygous mutations in DNAH9 in the affected individuals of these family trios. Ex vivo cDNA amplification revealed that DNAH9 mRNA expression was significantly downregulated in these patients carrying …
Through whole exome sequencing (WES), we identified compound heterozygous mutations in DNAH9 in the affected individuals of these fam …
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia.
Tang D, Sha Y, Gao Y, Zhang J, Cheng H, Zhang J, Ni X, Wang C, Xu C, Geng H, He X, Cao Y. Tang D, et al. Reprod Biol Endocrinol. 2021 Feb 20;19(1):27. doi: 10.1186/s12958-021-00709-0. Reprod Biol Endocrinol. 2021. PMID: 33610189 Free PMC article.
However, variants in DNAH9 lead to nonsyndromic severe asthenozoospermia have yet to be reported. ...Quantitative realtime-PCR and immunofluorescence staining were performed to detect the expression of DNAH9-mRNA and location of DNAH9-protein. Furthermore, as …
However, variants in DNAH9 lead to nonsyndromic severe asthenozoospermia have yet to be reported. ...Quantitative realtime-PCR and im …
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. Loges NT, et al. Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471718 Free PMC article.
Consistent with the observed subtle respiratory phenotype, high-speed video microscopy demonstrates distally impaired ciliary bending in DNAH9 mutant respiratory cilia. DNAH9-deficient cilia also lack other ODA components such as DNAH5, DNAI1, and DNAI2 from the dis …
Consistent with the observed subtle respiratory phenotype, high-speed video microscopy demonstrates distally impaired ciliary bending in …
Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML.
Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, Solis-Ruiz J, Borate U, Wilmot B, Tognon C, Bock AM, Pollyea DA, Radhakrishnan S, Radhakrishnan S, Patel P, Collins RH, Tantravahi S, Deininger MW, Fan G, Druker B, Shinde U, Tyner JW, Press RD, McWeeney S, Agarwal A. Yang F, et al. Blood. 2022 Feb 24;139(8):1208-1221. doi: 10.1182/blood.2021011354. Blood. 2022. PMID: 34482403 Free PMC article. Clinical Trial.
Pathogenic germline variants were also found in new candidate genes (DNAH5, DNAH9, DNMT3A, and SUZ12). No strong correlation was found between the germline mutational rate and age of AML onset. ...
Pathogenic germline variants were also found in new candidate genes (DNAH5, DNAH9, DNMT3A, and SUZ12). No strong correlation was foun …
A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child.
Isa HM, Alkharsi FA, Busehail MY, Haider F. Isa HM, et al. Cureus. 2022 Dec 26;14(12):e32964. doi: 10.7759/cureus.32964. eCollection 2022 Dec. Cureus. 2022. PMID: 36712782 Free PMC article.
Here, we discuss a case of PCD with a unique association with type IIIb jejunal atresia, and developmental delay secondary to vitamin B12 deficiency. Moreover, the patient was found to have a novel DNAH9 gene mutation in a compound heterozygous state. This is the first cas …
Here, we discuss a case of PCD with a unique association with type IIIb jejunal atresia, and developmental delay secondary to vitamin B12 de …
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM. Fassad MR, et al. Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471717 Free PMC article.
DNAH9 and its partner heavy chain DNAH5 localize to type 2 ODAs of the distal cilium and in DNAH9-mutated nasal respiratory epithelial cilia we found a loss of DNAH9/DNAH5-containing type 2 ODAs that was restricted to the distal cilia region. ...We find that …
DNAH9 and its partner heavy chain DNAH5 localize to type 2 ODAs of the distal cilium and in DNAH9-mutated nasal respiratory ep …
A pediatric case of productive cough caused by novel variants in DNAH9.
Takeuchi K, Xu Y, Ogawa S, Ikejiri M, Nakatani K, Gotoh S, Usui S, Masuda S, Nagao M, Fujisawa T. Takeuchi K, et al. Hum Genome Var. 2021 Jan 15;8(1):3. doi: 10.1038/s41439-020-00134-6. Hum Genome Var. 2021. PMID: 33452233 Free PMC article.
We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality o …
We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repea …
Fetal Congenital Heart Disease Caused by Compound Heterozygous Mutations in the DNAH9 Gene: A Case Report.
Zhang T, Yuan H, Zhu H, Ying Y, Ding J, Ding H, Shi X, He Y, Pan H, Zhong Y. Zhang T, et al. Front Genet. 2022 Jan 18;12:771756. doi: 10.3389/fgene.2021.771756. eCollection 2021. Front Genet. 2022. PMID: 35116053 Free PMC article.
Herein, a Chinese CHD patient with rare compound heterozygous mutations in the DNAH9 gene was reported, and the 3D structure and functional changes of DNAH9 protein were predicted. ...Copy number variation sequencing (CNV-seq) revealed an 81 kb deletion at chr17p12 …
Herein, a Chinese CHD patient with rare compound heterozygous mutations in the DNAH9 gene was reported, and the 3D structure and func …
78 results