PMC Articles for MedGen (Select 340513) - PMC

Select item 26949771.

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacques S. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafé

Am J Hum Genet. 2009 Jun 12; 84(6): 760–770. doi: 10.1016/j.ajhg.2009.05.002

PMCID:: PMC2694977

Abstract Article PDF–1.1M

Select item 73251262.

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

Allan Bayat, Morton Dunø, Maria Kirchhoff, Finn S. Jørgensen, Gen Nishimura, Hanne B. Hove

Mol Syndromol. 2020 Jun; 11(2): 83–89. Published online 2020 Mar 7. doi: 10.1159/000506384

PMCID:: PMC7325126

Abstract Article PDF–517K

Select item 55841413.

Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling

Mariana Capurro, Tomomi Izumikawa, Philippe Suarez, Wen Shi, Marzena Cydzik, Tomoyuki Kaneiwa, Jean Gariepy, Luisa Bonafe, Jorge Filmus

J Cell Biol. 2017 Sep 4; 216(9): 2911–2926. doi: 10.1083/jcb.201605119

PMCID:: PMC5584141

Abstract Article PDF–2.5M

Select item 22323994.

Single-Channel Properties of Recombinant Acid-Sensitive Ion Channels Formed by the Subunits Asic2 and Asic3 from Dorsal Root Ganglion Neurons Expressed in Xenopus Oocytes

Ping Zhang, Cecilia M. Canessa

J Gen Physiol. 2001 Jun 1; 117(6): 563–572. doi: 10.1085/jgp.117.6.563

PMCID:: PMC2232399

Abstract Article PDF–144K

Select item 56216295.

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

John P Kemp, John A Morris, Carolina Medina-Gomez, Vincenzo Forgetta, Nicole M Warrington, Scott E Youlten, Jie Zheng, Celia L Gregson, Elin Grundberg, Katerina Trajanoska, John G Logan, Andrea S Pollard, Penny C Sparkes, Elena J Ghirardello, Rebecca Allen, Victoria D Leitch, Natalie C Butterfield, Davide Komla-Ebri, Anne-Tounsia Adoum, Katharine F Curry, Jacqueline K White, Fiona Kussy, Keelin M Greenlaw, Changjiang Xu, Nicholas C Harvey, Cyrus Cooper, David J Adams, Celia MT Greenwood, Matthew T Maurano, Stephen Kaptoge, Fernando Rivadeneira, Jonathan H Tobias, Peter I Croucher, Cheryl L Ackert-Bicknell, JH Duncan Bassett, Graham R Williams, J Brent Richards, David M Evans

Nat Genet. Author manuscript; available in PMC 2018 Mar 4.

Published in final edited form as: Nat Genet. 2017 Oct; 49(10): 1468–1475. Published online 2017 Sep 4. doi: 10.1038/ng.3949

PMCID:: PMC5621629

Abstract Article PDF–1.2M

Select item 48349286.

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia

Howard M. Saal, Cynthia A. Prows, Iris Guerreiro, Milene Donlin, Luke Knudson, Kristen L. Sund, Ching-Fang Chang, Samantha A. Brugmann, Rolf W. Stottmann

Hum Mol Genet. 2015 Jun 15; 24(12): 3399–3409. Published online 2015 Mar 10. doi: 10.1093/hmg/ddv088

PMCID:: PMC4834928

Abstract Article PDF–645K

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