PMC Articles for MedGen (Select 815964) - PMC

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

Abstract Article PDF–1.3M

Select item 104047054.

Siewert–Kartagener’s syndrome in a dog

Rankyung Jung, Jihye Choi, Hyeona Bae, Dong-In Jung, Kyoung-Oh Cho, DoHyeon Yu

J Vet Sci. 2023 Jul; 24(4): e57. Published online 2023 Jul 7. doi: 10.4142/jvs.23029

PMCID:: PMC10404705

Abstract Article PDF–6.4M

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

Abstract Article PDF–952K

Select item 100028656.

Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies

Alicja Rabiasz, Ewa Ziętkiewicz

Int J Mol Sci. 2023 Mar; 24(5): 4472. Published online 2023 Feb 24. doi: 10.3390/ijms24054472

PMCID:: PMC10002865

Abstract Article PDF–883K

Select item 99157237.

The RSPH4A Gene in Primary Ciliary Dyskinesia

Wilfredo De Jesús-Rojas, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, Ricardo A. Mosquera

Int J Mol Sci. 2023 Feb; 24(3): 1936. Published online 2023 Jan 18. doi: 10.3390/ijms24031936

PMCID:: PMC9915723

Abstract Article PDF–3.9M

Select item 97768548.

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

Abstract Article PDF–4.3M

Select item 93005269.

Fetal ciliopathies: a retrospective observational single-center study

Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel

Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7

PMCID:: PMC9300526

Abstract Article PDF–1.4M

Select item 922668910.

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

Muhammad Zubair, Ranjha Khan, Ao Ma, Uzma Hameed, Mazhar Khan, Tanveer Abbas, Riaz Ahmad, Jian-Teng Zhou, Wasim Shah, Ansar Hussain, Nisar Ahmed, Ihsan Khan, Khalid Khan, Yuan-Wei Zhang, Huan Zhang, Li-Min Wu, Qing-Hua Shi

Asian J Androl. 2022 May-Jun; 24(3): 255–259. Published online 2022 Mar 4. doi: 10.4103/aja2021122

PMCID:: PMC9226689

Abstract Article PDF–1.9M

Select item 870786811.

Primary Cilia Structure Is Prolonged in Enteric Neurons of 5xFAD Alzheimer’s Disease Model Mice

Vu Thu Thuy Nguyen, Lena Brücker, Ann-Kathrin Volz, Julia C. Baumgärtner, Malena dos Santos Guilherme, Francesco Valeri, Helen May-Simera, Kristina Endres

Int J Mol Sci. 2021 Dec; 22(24): 13564. Published online 2021 Dec 17. doi: 10.3390/ijms222413564

PMCID:: PMC8707868

Abstract Article PDF–2.4M

Select item 859587812.

De novo identification of mammalian ciliary motility proteins using cryo-EM

Miao Gui, Hannah Farley, Priyanka Anujan, Jacob R. Anderson, Dale W. Maxwell, Jonathan B. Whitchurch, J. Josephine Botsch, Tao Qiu, Shimi Meleppattu, Sandeep K. Singh, Qi Zhang, James Thompson, Jane S. Lucas, Colin D. Bingle, Dominic P. Norris, Sudipto Roy, Alan Brown

Cell. Author manuscript; available in PMC 2021 Nov 17.

Published in final edited form as: Cell. 2021 Nov 11; 184(23): 5791–5806.e19. Published online 2021 Oct 28. doi: 10.1016/j.cell.2021.10.007

PMCID:: PMC8595878

Abstract Article PDF–2.1M

Select item 835156313.

Structural insights into the cause of human RSPH4A primary ciliary dyskinesia

Yanhe Zhao, Justine Pinskey, Jianfeng Lin, Weining Yin, Patrick R. Sears, Leigh A. Daniels, Maimoona A. Zariwala, Michael R. Knowles, Lawrence E. Ostrowski, Daniela Nicastro

Mol Biol Cell. 2021 Jun 1; 32(12): 1202–1209. doi: 10.1091/mbc.E20-12-0806

PMCID:: PMC8351563

Abstract Article PDF–808K

Select item 825227114.

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Xinyue Zhao, Chun Bian, Keqiang Liu, Wenshuai Xu, Yaping Liu, Xinlun Tian, Jing Bai, Kai-Feng Xu, Xue Zhang

Orphanet J Rare Dis. 2021; 16: 293. Published online 2021 Jul 1. doi: 10.1186/s13023-021-01840-2

PMCID:: PMC8252271

Abstract Article PDF–3.6M

Select item 730675115.

CAMSAP3 facilitates basal body polarity and the formation of the central pair of microtubules in motile cilia

Alan M. Robinson, Satoe Takahashi, Eva J. Brotslaw, Aisha Ahmad, Emma Ferrer, Daniele Procissi, Claus-Peter Richter, Mary Ann Cheatham, Brian J. Mitchell, Jing Zheng

Proc Natl Acad Sci U S A. 2020 Jun 16; 117(24): 13571–13579. Published online 2020 Jun 1. doi: 10.1073/pnas.1907335117

PMCID:: PMC7306751

Abstract Article PDF–2.3M

Select item 707098016.

Identification of Potential Therapeutic Gene Markers in Nasopharyngeal Carcinoma Based on Bioinformatics Analysis

Kai Xue, Jinfeng Cao, Yinan Wang, Xue Zhao, Dan Yu, Chunshun Jin, Chengbi Xu

Clin Transl Sci. 2020 Mar; 13(2): 265–274. Published online 2019 Dec 21. doi: 10.1111/cts.12690

PMCID:: PMC7070980

Abstract Article PDF–1.0M

Select item 699168217.

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

Rui Zhang, Shaoyun Chen, Peng Han, Fangfang Chen, Shan Kuang, Zhuo Meng, Junnian Liu, Ruliang Sun, Zhiwei Wang, Xiaohong He, Yong Li, Yuanning Guan, Zhengfang Yue, Chen Li, Subrata Kumar Dey, Yuanfang Zhu, Santasree Banerjee

J Cell Mol Med. 2020 Jan; 24(2): 1906–1916. Published online 2019 Dec 15. doi: 10.1111/jcmm.14887

PMCID:: PMC6991682

Abstract Article PDF–1.4M

Select item 683992418.

Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype

Weining Yin, Alessandra Livraghi-Butrico, Patrick R. Sears, Troy D. Rogers, Kimberlie A. Burns, Barbara R. Grubb, Lawrence E. Ostrowski

Am J Respir Cell Mol Biol. 2019 Sep; 61(3): 312–321. doi: 10.1165/rcmb.2017-0387OC

PMCID:: PMC6839924

Abstract Article PDF–1.4M

Select item 658227319.

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil

Mary Anne Kowal Olm, Fernando Augusto Lima Marson, Rodrigo Abensur Athanazio, Naomi Kondo Nakagawa, Mariangela Macchione, Niki Tomas Loges, Heymut Omran, Samia Zahi Rached, Carmen Sílvia Bertuzzo, Rafael Stelmach, Paulo Hilário Nascimento Saldiva, José Dirceu Ribeiro, Marcus Herbert Jones, Thais Mauad

Sci Rep. 2019; 9: 8693. Published online 2019 Jun 18. doi: 10.1038/s41598-019-45017-1

PMCID:: PMC6582273

Abstract Article PDF–1.4M

Select item 585473020.

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

S. Irving, M. Dixon, M. R. Fassad, E. Frost, J. Hayward, K. Kilpin, S. Ollosson, A. Onoufriadis, M. P. Patel, J. Scully, S. B. Carr, H. M. Mitchison, M. R. Loebinger, C. Hogg, A. Shoemark, A. Bush

Lung. 2018; 196(2): 231–238. Published online 2018 Jan 24. doi: 10.1007/s00408-018-0086-x

PMCID:: PMC5854730

Abstract Article PDF–981K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 39

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity