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Select item 62477781.

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

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Select item 55177912.

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

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Select item 33765483.

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

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Select item 87641204.

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

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Select item 63820145.

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

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Select item 57182636.

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

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Select item 42266347.

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

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Select item 38241308.

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

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Select item 104549099.

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

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Select item 1043562010.

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

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Select item 988718911.

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

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Select item 964664412.

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

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Select item 930098613.

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

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Select item 426278814.

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

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Select item 598696915.

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

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Select item 1046397816.

A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report

Xiaodong Yang, Siyu Pu, Bo Xiang, Xueyang Tang, Jing Chen

BMC Pediatr. 2023; 23: 424. Published online 2023 Aug 25. doi: 10.1186/s12887-023-04167-y

PMCID:: PMC10463978

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Select item 1034777017.

Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations

Hongrui Chen, Bin Sun, Wei Gao, Yajing Qiu, Chen Hua, Xiaoxi Lin

Orphanet J Rare Dis. 2023; 18: 189. Published online 2023 Jul 14. doi: 10.1186/s13023-023-02786-3

PMCID:: PMC10347770

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Select item 1027592318.

A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

Rie Seyama, Masashi Nishikawa, Yuri Uchiyama, Keisuke Hamada, Yuka Yamamoto, Masahiro Takeda, Takanori Ochi, Monami Kishi, Toshifumi Suzuki, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Takashi Yao, Hidenori Ito, Atsuo Itakura, Kazuhiro Ogata, Koh-ichi Nagata, Naomichi Matsumoto

Sci Rep. 2023; 13: 9789. Published online 2023 Jun 16. doi: 10.1038/s41598-023-36381-0

PMCID:: PMC10275923

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Select item 1025755919.

De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities

Lyna Siafa, Emanuela Argilli, Elliott H. Sherr, Kenneth A. Myers

Pediatr Neurol. Author manuscript; available in PMC 2023 Jun 11.

Published in final edited form as: Pediatr Neurol. 2022 Jun; 131: 1–3. Published online 2022 Mar 31. doi: 10.1016/j.pediatrneurol.2022.03.005

PMCID:: PMC10257559

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Select item 1021857220.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

Int J Mol Sci. 2023 May; 24(10): 8729. Published online 2023 May 13. doi: 10.3390/ijms24108729

PMCID:: PMC10218572

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