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Select item 75205961.

WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System

Yeonjoo Kim, Soo-Hyun Kim

Endocrinol Metab (Seoul) 2020 Sep; 35(3): 494–506. Published online 2020 Sep 8. doi: 10.3803/EnM.2020.302

PMCID:: PMC7520596

Abstract Article PDF–519K

Select item 32133942.

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M. Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan-Stephan F. Sanders, Irene Stolte-Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Cécile Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine V.A.M. Knoers, Ronald Roepman, Heleen H. Arts

Am J Hum Genet. 2011 Nov 11; 89(5): 634–643. doi: 10.1016/j.ajhg.2011.10.001

PMCID:: PMC3213394

Abstract Article PDF–822K

Select item 50155693.

Craniofacial ciliopathies: An expanding oral disease spectrum - a review of literature and a case report

Jigna V. Raja, M. L. Asha, G. Arun Kumar, Anupama V. Sattigeri, Diksha Malhotra

Indian J Dent. 2016 Sep; 7(3): 153–157. doi: 10.4103/0975-962X.180315

PMCID:: PMC5015569

Abstract Article PDF–1.4M

Select item 41331284.

The emerging role of Arf/Arl Small GTPases in Cilia and Ciliopathies

Yujie Li, Kun Ling, Jinghua Hu

J Cell Biochem. Author manuscript; available in PMC 2014 Aug 14.

Published in final edited form as: J Cell Biochem. 2012 Jul; 113(7): 2201–2207. doi: 10.1002/jcb.24116

PMCID:: PMC4133128

Abstract Article PDF–449K

Select item 49047885.

The Evolving Spectrum of Ciliopathies and Respiratory Disease

Carlos E. Milla

Curr Opin Pediatr. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Curr Opin Pediatr. 2016 Jun; 28(3): 339–347. doi: 10.1097/MOP.0000000000000358

PMCID:: PMC4904788

Abstract Article PDF–894K

Select item 49015156.

The cilia-regulated proteasome and its role in the development of ciliopathies and cancer

Christoph Gerhardt, Tristan Leu, Johanna Maria Lier, Ulrich Rüther

Cilia. 2016; 5: 14. Published online 2016 Jun 10. doi: 10.1186/s13630-016-0035-3

PMCID:: PMC4901515

Abstract Article PDF–1.9M

Select item 48931627.

Primary ciliary dyskinesia and associated sensory ciliopathies

Amjad Horani, Thomas W Ferkol

Expert Rev Respir Med. Author manuscript; available in PMC 2016 Jun 4.

Published in final edited form as: Expert Rev Respir Med. 2016 May; 10(5): 569–576. Published online 2016 Mar 28. doi: 10.1586/17476348.2016.1165612

PMCID:: PMC4893162

Abstract Article PDF–458K

Select item 85354198.

Using Paramecium as a Model for Ciliopathies

Megan Valentine, Judith Van Houten

Genes (Basel) 2021 Oct; 12(10): 1493. Published online 2021 Sep 24. doi: 10.3390/genes12101493

PMCID:: PMC8535419

Abstract Article PDF–12M

Select item 41545429.

Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience

Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto, Marwa M. Nabhan, Susan J. Allen, Ahmed M. Badr, Maha Sheba, Sawsan Fadda, Ghada Gawdat, Hassan El-Kiky

Saudi J Kidney Dis Transpl. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: Saudi J Kidney Dis Transpl. 2012 Sep; 23(5): 1090–1098. doi: 10.4103/1319-2442.100968

PMCID:: PMC4154542

Abstract Article PDF–230K

Select item 969182310.

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P J Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S Leslie, Emma Baple, Genomics England Research Consortium, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A Johnson

J Med Genet. 2022 Dec; 59(12): 1151–1164. Published online 2022 Jun 28. doi: 10.1136/jmedgenet-2022-108476

PMCID:: PMC9691823

Abstract Article PDF–1.3M

Select item 852385311.

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies

Yuefang Liu, Hui Wang, Xin Jin, Qixiang Shao, Qiong Pan

Front Genet. 2021; 12: 705808. Published online 2021 Oct 5. doi: 10.3389/fgene.2021.705808

PMCID:: PMC8523853

Abstract Article PDF–1.7M

Select item 475900512.

The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility

Richard W. Linck, Hector Chemes, David F. Albertini

J Assist Reprod Genet. 2016 Feb; 33(2): 141–156. Published online 2016 Jan 29. doi: 10.1007/s10815-016-0652-1

PMCID:: PMC4759005

Article PDF–3.7M

Select item 366574413.

Smelling the Roses and Seeing the Light: Gene Therapy for Ciliopathies

Jeremy C. McIntyre, Corey L. Williams, Jeffrey R. Martens

Trends Biotechnol. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Trends Biotechnol. 2013 Jun; 31(6): 355–363. Published online 2013 Apr 17. doi: 10.1016/j.tibtech.2013.03.005

PMCID:: PMC3665744

Abstract Article PDF–2.3M

Select item 331379714.

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

Alyson Ashe, Natalie C. Butterfield, Liam Town, Andrew D. Courtney, Ashley N. Cooper, Charles Ferguson, Rachael Barry, Fredrik Olsson, Karel F. Liem, Jr, Robert G. Parton, Brandon J. Wainwright, Kathryn V. Anderson, Emma Whitelaw, Carol Wicking

Hum Mol Genet. 2012 Apr 15; 21(8): 1808–1823. Published online 2012 Jan 6. doi: 10.1093/hmg/ddr613

PMCID:: PMC3313797

Abstract Article PDF–740K

Select item 978288915.

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

Vasiliki Karalis, Kathleen E. Donovan, Mustafa Sahin

J Dev Biol. 2022 Dec; 10(4): 54. Published online 2022 Dec 13. doi: 10.3390/jdb10040054

PMCID:: PMC9782889

Abstract Article PDF–1.0M

Select item 416792716.

Ciliopathies: The Trafficking Connection

Kayalvizhi Madhivanan, R. Claudio Aguilar

Traffic. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Traffic. 2014 Oct; 15(10): 1031–1056. Published online 2014 Aug 11. doi: 10.1111/tra.12195

PMCID:: PMC4167927

Abstract Article PDF–1.1M

Select item 847289717.

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Anna Hammarsjö, Maria Pettersson, David Chitayat, Atsuhiko Handa, Britt-Marie Anderlid, Marco Bartocci, Donald Basel, Dominyka Batkovskyte, Ana Beleza-Meireles, Peter Conner, Jesper Eisfeldt, Katta M. Girisha, Brian Hon-Yin Chung, Eva Horemuzova, Hironobu Hyodo, Liene Korņejeva, Kristina Lagerstedt-Robinson, Angela E. Lin, Måns Magnusson, Shahida Moosa, Shalini S. Nayak, Daniel Nilsson, Hirofumi Ohashi, Naoko Ohashi-Fukuda, Henrik Stranneheim, Fulya Taylan, Rasa Traberg, Ulrika Voss, Valtteri Wirta, Ann Nordgren, Gen Nishimura, Anna Lindstrand, Giedre Grigelioniene

J Hum Genet. 2021; 66(10): 995–1008. Published online 2021 Apr 20. doi: 10.1038/s10038-021-00925-x

PMCID:: PMC8472897

Abstract Article PDF–3.1M

Select item 1046858618.

Shivania Reddy, Russell Simmers, Arth Shah, Natario Couser

Clin Case Rep. 2023 Sep; 11(9): e7818. Published online 2023 Aug 30. doi: 10.1002/ccr3.7818

PMCID:: PMC10468586

Abstract Article PDF–606K

Select item 512699819.

Characterizing the morbid genome of ciliopathies

Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous M. Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al-Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Ciliopathy WorkingGroup, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David A. Parry, Nada Al Tassan, Dorota Monies, Andre Megarbane, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

Genome Biol. 2016; 17: 242. Published online 2016 Nov 28. doi: 10.1186/s13059-016-1099-5

PMCID:: PMC5126998

Abstract Article PDF–1.6M

Select item 694886120.

Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies

I-Chun Tsai, Kevin A. Adams, Joyce A. Tzeng, Omar Shennib, Perciliz L. Tan, Nicholas Katsanis

JCI Insight. 2019 Nov 14; 4(22): e130516. Published online 2019 Nov 14. doi: 10.1172/jci.insight.130516

PMCID:: PMC6948861

Abstract Article PDF–5.1M

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