PMC Articles for MedGen (Select 1635470) - PMC

Select item 48373351.

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Claudio R. Cortés, Aideen M. McInerney-Leo, Ida Vogel, Maria C. Rondón Galeano, Paul J. Leo, Jessica E. Harris, Lisa K. Anderson, Patricia A. Keith, Matthew A. Brown, Mette Ramsing, Emma L. Duncan, Andreas Zankl, Carol Wicking

Sci Rep. 2016; 6: 24083. Published online 2016 Apr 20. doi: 10.1038/srep24083

PMCID:: PMC4837335

Abstract Article PDF–1.3M

Select item 62443542.

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Nicole J. Boczek, Katharina Hopp, Lacey Benoit, Daniel Kraft, Margot A. Cousin, Patrick R. Blackburn, Charles D. Madsen, Gavin R. Oliver, Asha A. Nair, Jie Na, Diana W. Bianchi, Geoffrey Beek, Peter C. Harris, Pavel Pichurin, Eric W. Klee

Eur J Hum Genet. 2018 Dec; 26(12): 1797–1809. Published online 2018 Aug 10. doi: 10.1038/s41431-018-0222-3

PMCID:: PMC6244354

Abstract Article PDF–1.3M

Select item 99572773.

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir

Genes (Basel) 2023 Feb; 14(2): 327. Published online 2023 Jan 27. doi: 10.3390/genes14020327

PMCID:: PMC9957277

Abstract Article PDF–567K

Select item 94037504.

Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies

Christian Louis Bonatto Paese, Ching-Fang Chang, Daniela Kristeková, Samantha A. Brugmann

Dis Model Mech. 2022 Aug 1; 15(8): dmm049611. Published online 2022 Aug 16. doi: 10.1242/dmm.049611

PMCID:: PMC9403750

Abstract Article

Select item 73201205.

Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

Naoya Morisada, Riku Hamada, Kenichiro Miura, Ming Juan Ye, Kandai Nozu, Motoshi Hattori, Kazumoto Iijima

CEN Case Rep. 2020 Aug; 9(3): 260–265. Published online 2020 Apr 6. doi: 10.1007/s13730-020-00472-y

PMCID:: PMC7320120

Abstract Article PDF–1.4M

Select item 55572766.

15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

J Med Genet. Author manuscript; available in PMC 2017 Aug 15.

Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436

PMCID:: PMC5557276

Abstract Article PDF–786K

Select item 54974647.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

Izak J Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Trine E Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns, Deborah J Morris-Rosendahl

Hum Mutat. Author manuscript; available in PMC 2017 Jul 5.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 237–247. Published online 2012 Oct 17. doi: 10.1002/humu.22224

PMCID:: PMC5497464

Abstract Article PDF–739K

Select item 47942478.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416

PMCID:: PMC4794247

Abstract Article PDF–8.5M

Select item 45272919.

Using the avian mutant talpid² as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome

Elizabeth N. Schock, Ching-Fang Chang, Jaime N. Struve, Ya-Ting Chang, Julie Chang, Mary E. Delany, Samantha A. Brugmann

Dis Model Mech. 2015 Aug 1; 8(8): 855–866. doi: 10.1242/dmm.020222

PMCID:: PMC4527291

Abstract Article

Select item 412024310.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Christel Thauvin-Robinet, Jaclyn S. Lee, Estelle Lopez, Vicente Herranz-Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St-Onge, Ange-Line Bruel, Julien Thevenon, Susana González-Granero, Caroline Alby, Arnold Munnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean-Baptiste Rivière, Tania Attié-Bitach, Jose Manuel Garcia-Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury

Nat Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Genet. 2014 Aug; 46(8): 905–911. Published online 2014 Jul 6. doi: 10.1038/ng.3031

PMCID:: PMC4120243

Article PDF–2.2M

Select item 289381111.

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

Alessandro Zullo, Daniela Iaconis, Adriano Barra, Alessandra Cantone, Nadia Messaddeq, Giovanbattista Capasso, Pascal Dollé, Peter Igarashi, Brunella Franco

Hum Mol Genet. 2010 Jul 15; 19(14): 2792–2803. Published online 2010 May 5. doi: 10.1093/hmg/ddq180

PMCID:: PMC2893811

Abstract Article PDF–767K

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