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Select item 105841931.

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Joseph S Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H Irons, Samuel B Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P Norris, Yair Anikster, Heymut Omran, Daniel T Grimes, Andrew H Crosby, Emma L Baple

Genet Med. Author manuscript; available in PMC 2023 Oct 18.

Published in final edited form as: Genet Med. 2022 Nov; 24(11): 2249–2261. Published online 2022 Sep 8. doi: 10.1016/j.gim.2022.07.019

PMCID:: PMC10584193

Article PDF–1.3M

Select item 103932362.

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Amjad Horani, Deepesh Kumar Gupta, Jian Xu, Huihui Xu, Lis del Carmen Puga-Molina, Celia M. Santi, Sruthi Ramagiri, Steven K. Brennan, Jiehong Pan, Jeffrey R. Koenitzer, Tao Huang, Rachael M. Hyland, Sean P. Gunsten, Shin-Cheng Tzeng, Jennifer M. Strahle, Pleasantine Mill, Moe R. Mahjoub, Susan K. Dutcher, Steven L. Brody

JCI Insight. 2023 Jun 8; 8(11): e168836. Published online 2023 Jun 8. doi: 10.1172/jci.insight.168836

PMCID:: PMC10393236

Article PDF–10M

Select item 102524763.

Primary Ciliary Dyskinesia Patient-Specific hiPSC-Derived Airway Epithelium in Air-Liquid Interface Culture Recapitulates Disease Specific Phenotypes In Vitro

Laura von Schledorn, David Puertollano Martín, Nicole Cleve, Janina Zöllner, Doris Roth, Ben Ole Staar, Jan Hegermann, Felix C. Ringshausen, Janna Nawroth, Ulrich Martin, Ruth Olmer

Cells. 2023 Jun; 12(11): 1467. Published online 2023 May 24. doi: 10.3390/cells12111467

PMCID:: PMC10252476

Article PDF–2.2M

Select item 102248954.

Successful ART outcome with donor oocytes in female Kartagener’s syndrome: a case report and follow-up

Sasikala Natarajamani, Rajapriya Ayyappan, Archana Manikere

J Assist Reprod Genet. 2023 Apr; 40(4): 779–782. Published online 2023 Apr 14. doi: 10.1007/s10815-023-02794-z

PMCID:: PMC10224895

Article PDF–437K

Select item 101124005.

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype

BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos Milla, Adam J. Shapiro, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Federico Mollica, Harm A. W. M. Tiddens, Mariette Kemner-van de Corput, Michael R. Knowles, Stephanie D. Davis, Margaret W. Leigh

Ann Am Thorac Soc. 2023 Apr 1; 20(4): 539–547. Published online 2023 Apr 1. doi: 10.1513/AnnalsATS.202206-524OC

PMCID:: PMC10112400

Article PDF–952K

Select item 99931586.

Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype

Andrew T. Barber, Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, Jeffrey J. Atkinson, Scott D. Sagel, Sharon D. Dell, Kenneth N. Olivier, Carlos E. Milla, Margaret Rosenfeld, Lang Li, Feng-Chang Lin, Kelli M. Sullivan, Nicole A. Capps, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh

Ann Am Thorac Soc. 2023 Mar 1; 20(3): 397–405. Published online 2023 Mar 1. doi: 10.1513/AnnalsATS.202206-487OC

PMCID:: PMC9993158

Article PDF–631K

Select item 97768547.

Multiomics Analysis of a DNAH5-Mutated PCD Organoid Model Revealed the Key Role of the TGF-β/BMP and Notch Pathways in Epithelial Differentiation and the Immune Response in DNAH5-Mutated Patients

Wenhao Yang, Lina Chen, Juncen Guo, Fang Shi, Qingxin Yang, Liang Xie, Danli Lu, Yingna Li, Jiaxin Luo, Li Wang, Li Qiu, Ting Chen, Yan Li, Rui Zhang, Lu Chen, Wenming Xu, Hanmin Liu

Cells. 2022 Dec; 11(24): 4013. Published online 2022 Dec 12. doi: 10.3390/cells11244013

PMCID:: PMC9776854

Article PDF–4.3M

Select item 93492048.

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

Katinka Breuer, Korbinian M. Riedhammer, Nicole Müller, Birthe Schaidinger, Gregor Dombrowsky, Sven Dittrich, Susanne Zeidler, Ulrike M. M. Bauer, Dominik S. Westphal, Thomas Meitinger, Tikam Chand Dakal, Marc-Phillip Hitz, Johannes Breuer, Heiko Reutter, Alina C. Hilger, Julia Hoefele

Eur J Hum Genet. 2022 Aug; 30(8): 946–954. Published online 2022 Apr 26. doi: 10.1038/s41431-022-01100-2

PMCID:: PMC9349204

Article PDF–1.8M

Select item 93141059.

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation

Renate Kos, Joël Israëls, Christine D. L. van Gogh, Josje Altenburg, Sandra Diepenhorst, Tamara Paff, Elles M. J. Boon, Dimitra Micha, Gerard Pals, Anne H. Neerincx, Anke H. Maitland‐van der Zee, Eric G. Haarman, Amsterdam Mucociliary Clearance Disease (AMCD) Research Group

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 89–101. Published online 2022 Mar 27. doi: 10.1002/ajmg.c.31968

PMCID:: PMC9314105

Article PDF–2.2M

Select item 870520310.

Comparison of the airway microbiota in children with chronic suppurative lung disease

Bushra Ahmed, Michael J Cox, Leah Cuthbertson, Phillip James, Laura Gardner, William Cookson, Jane Davies, Miriam Moffatt, Andrew Bush

BMJ Open Respir Res. 2021; 8(1): e001106. Published online 2021 Dec 22. doi: 10.1136/bmjresp-2021-001106

PMCID:: PMC8705203

Article PDF–2.0M

Select item 843545711.

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia

Ying Xiong, Hong Xia, Lamei Yuan, Sheng Deng, Zerui Ding, Hao Deng

J Cell Mol Med. 2021 Sep; 25(18): 9028–9037. Published online 2021 Aug 18. doi: 10.1111/jcmm.16866

PMCID:: PMC8435457

Article PDF–1.0M

Select item 837209012.

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala

Mol Genet Genomic Med. 2021 Jul; 9(7): e1726. Published online 2021 Jun 15. doi: 10.1002/mgg3.1726

PMCID:: PMC8372090

Article PDF–730K

Select item 806762113.

Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene

Lucie Šedová, Ivana Buková, Pavla Bažantová, Silvia Petrezsélyová, Jan Prochazka, Elena Školníková, Dagmar Zudová, Josef Včelák, Pavol Makovický, Běla Bendlová, Ondřej Šeda, Radislav Sedlacek

Int J Mol Sci. 2021 Apr; 22(8): 3810. Published online 2021 Apr 7. doi: 10.3390/ijms22083810

PMCID:: PMC8067621

Article PDF–3.3M

Select item 772726214.

Vertebrate Dynein-f depends on Wdr78 for axonemal localization and is essential for ciliary beat

Yirong Zhang, Yawen Chen, Jianqun Zheng, Juan Wang, Shichao Duan, Wei Zhang, Xiumin Yan, Xueliang Zhu

J Mol Cell Biol. 2019 May; 11(5): 383–394. Published online 2018 Jul 28. doi: 10.1093/jmcb/mjy043

PMCID:: PMC7727262

Article PDF–56M

Select item 769011415.

Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype

Rüdiger Schultz, Varpu Elenius, Heikki Lukkarinen, Tanja Saarela

BMC Med Genet. 2020; 21: 237. Published online 2020 Nov 26. doi: 10.1186/s12881-020-01171-2

PMCID:: PMC7690114

Article PDF–629K

Select item 767175616.

Management der Primären Ciliären Dyskinesie

J. Raidt, J. Brillault, F. Brinkmann, A. Jung, C. Koerner-Rettberg, A. Koitschev, H. Linz-Keul, T. Nüßlein, F. C. Ringshausen, J. Röhmel, M. Rosewich, C. Werner, H. Omran

Pneumologie. 2020 Nov; 74(11): 750–765. German. Published online 2020 Sep 25. doi: 10.1055/a-1235-1520

PMCID:: PMC7671756

Article PDF–1.3M

Select item 752727217.

Two novel TCTN2 mutations cause Meckel–Gruber syndrome

Manli Zhang, Zhijie Chang, Yaping Tian, Longxia Wang, Yanping Lu

J Hum Genet. 2020; 65(11): 1039–1043. Published online 2020 Jul 12. doi: 10.1038/s10038-020-0804-0

PMCID:: PMC7527272

Article PDF–1.6M

Select item 744835718.

Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report

Lili Zhang, Xungang Feng, Junhu Zhang, Yanlei Hao, Yuzhong Wang

BMC Neurol. 2020; 20: 314. Published online 2020 Aug 26. doi: 10.1186/s12883-020-01895-x

PMCID:: PMC7448357

Article PDF–1.0M

Select item 744449919.

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Ximena M. Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, Wu-Lin Charng, Mathieu Bottier, Patrick R. Sears, Wei-Ning Yin, Leigh Anne Daniels, Hailey Bowen, Donald F. Conrad, Michael R. Knowles, Lawrence E. Ostrowski, Maimoona A. Zariwala, Susan K. Dutcher

PLoS Genet. 2020 Aug; 16(8): e1008691. Published online 2020 Aug 7. doi: 10.1371/journal.pgen.1008691

PMCID:: PMC7444499

Article PDF–2.7M

Select item 725603320.

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Anu Sironen, Amelia Shoemark, Mitali Patel, Michael R. Loebinger, Hannah M. Mitchison

Cell Mol Life Sci. 2020; 77(11): 2029–2048. Published online 2019 Nov 28. doi: 10.1007/s00018-019-03389-7

PMCID:: PMC7256033

Article PDF–1.6M

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