PMC Links for OMIM (Select 611254) - PMC

Select item 40855761.

The Kinesin-4 Protein KIF7 Regulates Mammalian Hedgehog Signaling by Organizing the Cilia Tip Compartment

Mu He, Radhika Subramanian, Fiona Bangs, Tatiana Omelchenko, Karel F. Liem, Jr., Tarun M. Kapoor, Kathryn V. Anderson

Nat Cell Biol. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Nat Cell Biol. 2014 Jul; 16(7): 663–672. Published online 2014 Jun 22. doi: 10.1038/ncb2988

PMCID:: PMC4085576

Abstract Article PDF–2.6M

Select item 36748362.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

Nat Genet. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Nat Genet. 2011 Jun; 43(6): 601–606. Published online 2011 May 8. doi: 10.1038/ng.826

PMCID:: PMC3674836

Abstract Article PDF–1.2M

Select item 34922043.

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, Joseph G Gleeson, Lihadh Al-Gazali

Orphanet J Rare Dis. 2012; 7: 27. Published online 2012 May 15. doi: 10.1186/1750-1172-7-27

PMCID:: PMC3492204

Abstract Article PDF–1.6M

Select item 32678564.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie L. Bielas, Sarah E. Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M. Schlossman, Barry Merriman, Tania Attié-Bitach, Clare V. Logan, Ian A. Glass, Andrew Cluckey, Carrie M. Louie, Jeong Ho Lee, Hilary R. Raynes, Isabelle Rapin, Ignacio P. Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel A. Doherty, Enza Maria Valente, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Nat Genet. 2012 Feb; 44(2): 193–199. Published online 2012 Jan 15. doi: 10.1038/ng.1078

PMCID:: PMC3267856

Abstract Article PDF–1.5M

Select item 32238205.

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Claudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Robert Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno Jörn Bolz

J Clin Invest. 2011 Jul 1; 121(7): 2662–2667. Published online 2011 Jun 1. doi: 10.1172/JCI43639

PMCID:: PMC3223820

Abstract Article PDF–3.6M

Select item 27264206.

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

Karel F. Liem, Jr, Mu He, Polloneal Jymmiel R. Ocbina, Kathryn V. Anderson

Proc Natl Acad Sci U S A. 2009 Aug 11; 106(32): 13377–13382. Published online 2009 Jul 29. doi: 10.1073/pnas.0906944106

PMCID:: PMC2726420

Abstract Article PDF–1.7M

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