PMC Links for GEO Profiles (Select 4911674) - PMC

Select item 75101751.

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A Cabral, Weizhong Chang, Aileen M Barnes, MaryAnn Weis, Melissa A Scott, Sergey Leikin, Elena Makareeva, Natalia V Kuznetsova, Kenneth N Rosenbaum, Cynthia J Tifft, Dorothy I Bulas, Chahira Kozma, Peter A Smith, David R Eyre, Joan C Marini

Nat Genet. Author manuscript; available in PMC 2020 Sep 23.

Published in final edited form as: Nat Genet. 2007 Mar; 39(3): 359–365. Published online 2007 Feb 4. doi: 10.1038/ng1968

PMCID:: PMC7510175

Abstract Article PDF–1.0M

Select item 66186112.

A Multilevel Screening Strategy Defines a Molecular Fingerprint of Proregenerative Olfactory Ensheathing Cells and Identifies SCARB2, a Protein That Improves Regenerative Sprouting of Injured Sensory Spinal Axons

Kasper C. D. Roet, Elske H. P. Franssen, Frederik M. de Bree, Anke H. W. Essing, Sjirk-Jan J. Zijlstra, Nitish D. Fagoe, Hannah M. Eggink, Ruben Eggers, August B. Smit, Ronald E. van Kesteren, Joost Verhaagen

J Neurosci. 2013 Jul 3; 33(27): 11116–11135. doi: 10.1523/JNEUROSCI.1002-13.2013

PMCID:: PMC6618611

Abstract Article PDF–5.9M

Select item 33529233.

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes, MaryAnn Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R. Eyre, Joan C. Marini, Tomonobu Hasegawa

PLoS One. 2012; 7(5): e36809. Published online 2012 May 15. doi: 10.1371/journal.pone.0036809

PMCID:: PMC3352923

Abstract Article PDF–1.8M

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 31565605.

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

Aileen M. Barnes, Erin M. Carter, Wayne A. Cabral, MaryAnn Weis, Weizhong Chang, Elena Makareeva, Sergey Leikin, Charles N. Rotimi, David R. Eyre, Cathleen L. Raggio, Joan C. Marini

N Engl J Med. Author manuscript; available in PMC 2011 Aug 16.

Published in final edited form as: N Engl J Med. 2010 Feb 11; 362(6): 521–528. Published online 2010 Jan 20. doi: 10.1056/NEJMoa0907705

PMCID:: PMC3156560

Abstract Article PDF–1.8M

Select item 28780556.

Prolyl 3-Hydroxylase 1 Null Mice Display Abnormalities in Fibrillar Collagen-rich Tissues Such as Tendons, Skin, and Bones

Janice A. Vranka, Elena Pokidysheva, Lauren Hayashi, Keith Zientek, Kazunori Mizuno, Yoshihiro Ishikawa, Kerry Maddox, Sara Tufa, Douglas R. Keene, Robert Klein, Hans Peter Bächinger

J Biol Chem. 2010 May 28; 285(22): 17253–17262. Published online 2010 Apr 2. doi: 10.1074/jbc.M110.102228