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Select item 96466441.

Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy

Tsai-Chu Yeh, Dau-Ming Niu, Hui-Chen Cheng, Yun-Ru Chen, Li-Zhen Chen, Shu-Ping Tsui, Ting-Wei Ernie Liao, An-Guor Wang, Chia-Feng Yang

Mol Genet Metab Rep. 2022 Dec; 33: 100937. Published online 2022 Nov 8. doi: 10.1016/j.ymgmr.2022.100937

PMCID:: PMC9646644

Abstract Article PDF–1.1M

Select item 62477782.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman, Ernie M. H. F. Bongers

Cilia. 2018; 7: 1. Published online 2018 Feb 23. doi: 10.1186/s13630-018-0055-2

PMCID:: PMC6247778

Abstract Article PDF–3.8M

Select item 55177913.

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis

Hum Genomics. 2017; 11: 16. Published online 2017 Jul 19. doi: 10.1186/s40246-017-0111-9

PMCID:: PMC5517791

Abstract Article PDF–1.4M

Select item 33765484.

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A.M. Salih, Sylvie Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Pietrement, Jamal Goumid, Clarisse Baumann, Christine Bole-Feysot, Patrick Nitschke, Mohammed Zahrate, Philip Beales, Heleen H. Arts, Arnold Munnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

Am J Hum Genet. 2012 May 4; 90(5): 864–870. doi: 10.1016/j.ajhg.2012.03.006

PMCID:: PMC3376548

Abstract Article PDF–667K

Select item 104549095.

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

Margarita Sharova, Tatyana Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana Ryzhkova, Tatyana Nagornova, Sofya Ionova, Andrey Marakhonov, Elena Dadali, Sergey Kutsev

Genes (Basel) 2023 Aug; 14(8): 1553. Published online 2023 Jul 28. doi: 10.3390/genes14081553

PMCID:: PMC10454909

Abstract Article PDF–1.2M

Select item 87641206.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, Charles D. Madsen, Adriana V. Gregory, Ruxandra Neatu, Timothy L. Kline, Marie-Pierre Audrézet, Patricia Outeda, Cherie B. Nau, Esther Meijer, Hamad Ali, Theodore I. Steinman, Michal Mrug, Paul J. Phelan, Terry J. Watnick, Dorien J.M. Peters, Albert C.M. Ong, Peter J. Conlon, Ronald D. Perrone, Emilie Cornec-Le Gall, Marie C. Hogan, Vicente E. Torres, John A. Sayer, Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Peter C. Harris

Am J Hum Genet. 2022 Jan 6; 109(1): 136–156. Published online 2021 Dec 9. doi: 10.1016/j.ajhg.2021.11.016

PMCID:: PMC8764120

Abstract Article PDF–2.5M

Select item 63820147.

A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia

Tyler Picariello, Jason M. Brown, Yuqing Hou, Gregory Swank, Deborah A. Cochran, Oliver D. King, Karl Lechtreck, Gregory J. Pazour, George B. Witman

J Cell Sci. 2019 Feb 1; 132(3): jcs220749. Published online 2019 Feb 11. doi: 10.1242/jcs.220749

PMCID:: PMC6382014

Abstract Article

Select item 57182638.

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad

Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1974–1983. Published online 2017 Nov 16. doi: 10.2215/CJN.01280217

PMCID:: PMC5718263

Abstract Article

Select item 42266349.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Natalia Di Donato, Theresa Neuhann, Jane L. Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco-Antić, Christoph Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć-Šćekić, Jelena Dobricic, Mirjana Brankovic-Magic, UK10K, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter J. Scambler, Sophie Saunier, Hannah M. Mitchison, Carsten Bergmann

Hum Mutat. Author manuscript; available in PMC 2014 Nov 10.

Published in final edited form as: Hum Mutat. 2013 May; 34(5): 714–724. doi: 10.1002/humu.22294

PMCID:: PMC4226634

Abstract Article PDF–1.8M

Select item 382413010.

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen M. McInerney-Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna M. Lehman, Peter Trnka, Patrick Nitschké, Christine Bole-Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul J. Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane L. Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter J. Scambler, Shing H. Zhan, Steven J. Jones, Hülya Kayserili, Beyhan Tuysuz, Khemchand N. Moorani, Alexandru Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, UK10K Consortium, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Nov 7; 93(5): 915–925. doi: 10.1016/j.ajhg.2013.09.012

PMCID:: PMC3824130

Abstract Article PDF–2.0M

Select item 1070010711.

Matching variants for functional characterization of genetic variants

Sebiha Cevik, Pei Zhao, Atiyye Zorluer, Mustafa S Pir, Wenyin Bian, Oktay I Kaplan

G3 (Bethesda) 2023 Dec; 13(12): jkad227. Published online 2023 Nov 2. doi: 10.1093/g3journal/jkad227

PMCID:: PMC10700107

Abstract Article PDF–3.5M

Select item 1043562012.

Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm

Corinna Simonini, Eva-Maria Fröschen, Jennifer Nadal, Brigitte Strizek, Christoph Berg, Annegret Geipel, Ulrich Gembruch

Arch Gynecol Obstet. 2023; 308(4): 1287–1300. Published online 2022 Oct 31. doi: 10.1007/s00404-022-06814-8

PMCID:: PMC10435620

Abstract Article PDF–1.9M

Select item 988718913.

Primary cilia-associated protein IFT172 in ciliopathies

Nan-Xi Zheng, Ya-Ting Miao, Xi Zhang, Mu-Zhi Huang, Muhammad Jahangir, Shilin Luo, Bing Lang

Front Cell Dev Biol. 2023; 11: 1074880. Published online 2023 Jan 17. doi: 10.3389/fcell.2023.1074880

PMCID:: PMC9887189

Abstract Article PDF–900K

Select item 930098614.

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud

Front Genet. 2022; 13: 931822. Published online 2022 Jul 7. doi: 10.3389/fgene.2022.931822

PMCID:: PMC9300986

Abstract Article PDF–989K

Select item 426278815.

Clinical genetics and pathobiology of ciliary chondrodysplasias

Miriam Schmidts

J Pediatr Genet. 2014 Jun; 3(2): 49–64. doi: 10.3233/PGE-14089

PMCID:: PMC4262788

Summary PDF–728K

Select item 598696916.

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Thomas A. Forbes, Sara E. Howden, Kynan Lawlor, Belinda Phipson, Jovana Maksimovic, Lorna Hale, Sean Wilson, Catherine Quinlan, Gladys Ho, Katherine Holman, Bruce Bennetts, Joanna Crawford, Peter Trnka, Alicia Oshlack, Chirag Patel, Andrew Mallett, Cas Simons, Melissa H. Little

Am J Hum Genet. 2018 May 3; 102(5): 816–831. Published online 2018 Apr 26. doi: 10.1016/j.ajhg.2018.03.014

PMCID:: PMC5986969

Abstract Article PDF–3.3M

Select item 1120287317.

The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia

Doaa Milibari, Sawsan R. Nowilaty, Rola Ba-Abbad

Genes (Basel) 2024 Jun; 15(6): 762. Published online 2024 Jun 11. doi: 10.3390/genes15060762

PMCID:: PMC11202873

Abstract Article PDF–1.2M

Select item 1116751518.

A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly

Thy Ngoc Nguyen, Giang Son Tran, Hai Duc Hoang, Long Giang Nguyen

Mol Genet Genomic Med. 2024 Jun; 12(6): e2468. Published online 2024 Jun 12. doi: 10.1002/mgg3.2468

PMCID:: PMC11167515

Abstract Article PDF–1.3M

Select item 1111963619.

Clinical characterisation of polydactyly in Maine Coon cats

Alexia Hamelin, Dominique Begon, Fabrice Conchou, Marion Fusellier, Marie Abitbol

J Feline Med Surg. 2017 Apr; 19(4): 382–393. Published online 2016 Feb 1. doi: 10.1177/1098612X16628920

PMCID:: PMC11119636

Abstract Article PDF–1.1M

Select item 1103677520.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini

BMC Med Genomics. 2024; 17: 100. Published online 2024 Apr 22. doi: 10.1186/s12920-024-01868-w

PMCID:: PMC11036775

Abstract Article PDF–2.3M

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