PMC Articles for MedGen (Select 816031) - PMC

Select item 112510541.

Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center

Huili Xue, Aili Yu, Lingji Chen, Qun Guo, Lin Zhang, Na lin, Xuemei Chen, Liangpu Xu, Hailong Huang

Sci Rep. 2024; 14: 16266. Published online 2024 Jul 15. doi: 10.1038/s41598-024-67164-w

PMCID:: PMC11251054

Abstract Article PDF–2.0M

Select item 107469502.

Cilia‐related diseases

Zhanhong Ren, Xiaoxiao Mao, Siqi Wang, Xin Wang

J Cell Mol Med. 2023 Dec; 27(24): 3974–3979. Published online 2023 Oct 13. doi: 10.1111/jcmm.17990

PMCID:: PMC10746950

Abstract Article PDF–804K

Select item 98441363.

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants

Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant

Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568

PMCID:: PMC9844136

Abstract Article

Select item 93005264.

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 79367215.

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

Isabella Aprea, Tabea Nöthe-Menchen, Gerard W Dougherty, Johanna Raidt, Niki T Loges, Thomas Kaiser, Julia Wallmeier, Heike Olbrich, Timo Strünker, Sabine Kliesch, Petra Pennekamp, Heymut Omran

Mol Hum Reprod. 2021 Mar; 27(3): gaab009. Published online 2021 Feb 9. doi: 10.1093/molehr/gaab009

PMCID:: PMC7936721

Abstract Article PDF–1.7M

Select item 78963886.

Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia

Dongdong Tang, Yanwei Sha, Yang Gao, Jingjing Zhang, Huiru Cheng, Junqiang Zhang, Xiaoqing Ni, Chao Wang, Chuan Xu, Hao Geng, Xiaojin He, Yunxia Cao

Reprod Biol Endocrinol. 2021; 19: 27. Published online 2021 Feb 20. doi: 10.1186/s12958-021-00709-0

PMCID:: PMC7896388

Abstract Article PDF–1.3M

Select item 70570877.

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani

Mol Genet Genomic Med. 2020 Mar; 8(3): e1137. Published online 2020 Jan 20. doi: 10.1002/mgg3.1137

PMCID:: PMC7057087

Abstract Article PDF–3.4M

Select item 70022308.

The Outer Dynein Arm Assembly Factor CCDC103 Forms Molecular Scaffolds Through Multiple Self-Interaction Sites

Stephen M. King, Ramila S. Patel-King

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2020 Jan; 77(1-2): 25–35. Published online 2019 Dec 27. doi: 10.1002/cm.21591

PMCID:: PMC7002230

Abstract Article PDF–1.9M

Select item 65822739.

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 646058510.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander H. Li, Neil A. Hanchard, Mahshid Azamian, Lisa C. A. D’Alessandro, Zeynep Coban-Akdemir, Keila N. Lopez, Nancy J. Hall, Heather Dickerson, Annarita Nicosia, Susan Fernbach, Philip M. Boone, Tomaz Gambin, Ender Karaca, Shen Gu, Bo Yuan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Huyen Dinh, Joy Jayaseelan, Donna Muzny, Seema Lalani, Jeffrey Towbin, Daniel Penny, Charles Fraser, James Martin, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Stephanie M. Ware, John W. Belmont

Eur J Hum Genet. 2019 Apr; 27(4): 563–573. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0307-z

PMCID:: PMC6460585

Abstract Article PDF–952K

Select item 617718411.

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Marina Andjelkovic, Predrag Minic, Misa Vreca, Maja Stojiljkovic, Anita Skakic, Aleksandar Sovtic, Milan Rodic, Vesna Skodric-Trifunovic, Nina Maric, Jelena Visekruna, Vesna Spasovski, Sonja Pavlovic

PLoS One. 2018; 13(10): e0205422. Published online 2018 Oct 9. doi: 10.1371/journal.pone.0205422

PMCID:: PMC6177184

Abstract Article PDF–16M

Select item 604706812.

The Value of Transmission Electron Microscopy for Primary Ciliary Dyskinesia Diagnosis in the Era of Molecular Medicine: Genetic Defects with Normal and Non-Diagnostic Ciliary Ultrastructure

Adam J. Shapiro, Margaret W. Leigh

Ultrastruct Pathol. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Ultrastruct Pathol. 2017 Nov-Dec; 41(6): 373–385. Published online 2017 Sep 15. doi: 10.1080/01913123.2017.1362088

PMCID:: PMC6047068

Abstract Article PDF–2.4M

Select item 590992713.

DRC2/CCDC65 is a central hub for assembly of the nexin–dynein regulatory complex and other regulators of ciliary and flagellar motility

Raqual Bower, Douglas Tritschler, Kristyn VanderWaal Mills, Thomas Heuser, Daniela Nicastro, Mary E. Porter

Mol Biol Cell. 2018 Jan 15; 29(2): 137–153. doi: 10.1091/mbc.E17-08-0510

PMCID:: PMC5909927

Abstract Article PDF–2.2M

Select item 588629614.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson

Hum Mol Genet. 2018 Feb 1; 27(3): 529–545. Published online 2017 Dec 7. doi: 10.1093/hmg/ddx422

PMCID:: PMC5886296

Abstract Article PDF–1.3M

Select item 456264415.

Huawen Lin, Zhengyan Zhang, Suyang Guo, Fan Chen, Jonathan M. Kessler, Yan Mei Wang, Susan K. Dutcher

PLoS Genet. 2015 Sep; 11(9): e1005508. Published online 2015 Sep 8. doi: 10.1371/journal.pgen.1005508

PMCID:: PMC4562644

Abstract Article PDF–4.7M

Select item 379126416.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Christina Austin-Tse, Jan Halbritter, Maimoona A. Zariwala, Renée M. Gilberti, Heon Yung Gee, Nathan Hellman, Narendra Pathak, Yan Liu, Jennifer R. Panizzi, Ramila S. Patel-King, Douglas Tritschler, Raqual Bower, Eileen O’Toole, Jonathan D. Porath, Toby W. Hurd, Moumita Chaki, Katrina A. Diaz, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Daniela A. Braun, Markus Schueler, Rannar Airik, Edgar A. Otto, Margaret W. Leigh, Peadar G. Noone, Johnny L. Carson, Stephanie D. Davis, Jessica E. Pittman, Thomas W. Ferkol, Jeffry J. Atkinson, Kenneth N. Olivier, Scott D. Sagel, Sharon D. Dell, Margaret Rosenfeld, Carlos E. Milla, Niki T. Loges, Heymut Omran, Mary E. Porter, Stephen M. King, Michael R. Knowles, Iain A. Drummond, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Oct 3; 93(4): 672–686. doi: 10.1016/j.ajhg.2013.08.015

PMCID:: PMC3791264

Abstract Article PDF–2.5M

Select item 377834317.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente

Eur J Hum Genet. 2013 Oct; 21(10): 1074–1078. Published online 2013 Feb 6. doi: 10.1038/ejhg.2012.305

PMCID:: PMC3778343

Abstract Article PDF–471K

Select item 375330218.

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

Amjad Horani, Steven L. Brody, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Asaf Ta-shma, Kate S. Wilson, Philip V. Bayly, Israel Amirav, Malena Cohen-Cymberknoh, Susan K. Dutcher, Orly Elpeleg, Eitan Kerem

PLoS One. 2013; 8(8): e72299. Published online 2013 Aug 26. doi: 10.1371/journal.pone.0072299

PMCID:: PMC3753302

Abstract Article PDF–3.4M

Select item 363046419.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms

Dinu Antony, Anita Becker-Heck, Maimoona A Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W Leigh, Whitney E Wolf, M. Leigh Anne Daniels, Peader G Noone, Thomas W Ferkol, Scott D Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S Lucas, Claire Hogg, Peter J Scambler, Richard D Emes, UK10K, Eddie MK Chung, Amelia Shoemark, Michael R Knowles, Heymut Omran, Hannah M Mitchison

Hum Mutat. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Hum Mutat. 2013 Mar; 34(3): 462–472. Published online 2013 Feb 11. doi: 10.1002/humu.22261

PMCID:: PMC3630464

Abstract Article PDF–1.3M

Select item 266290420.

DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

Nada Hornef, Heike Olbrich, Judit Horvath, Maimoona A. Zariwala, Manfred Fliegauf, Niki Tomas Loges, Johannes Wildhaber, Peadar G. Noone, Marcus Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüsslein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, Heymut Omran

Am J Respir Crit Care Med. 2006 Jul 15; 174(2): 120–126. Published online 2006 Apr 20. doi: 10.1164/rccm.200601-084OC

PMCID:: PMC2662904

Abstract Article PDF–187K

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