Full text in PMC (nucleotide) for Gene (Select 84430) - PMC

Select item 55008191.

Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2

Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J. Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y. Vakhrushev, Henrik Clausen, Adnan Halim

J Biol Chem. 2017 Jul 7; 292(27): 11586–11598. Published online 2017 May 16. doi: 10.1074/jbc.M117.794487

PMCID:: PMC5500819

Abstract Article PDF–1.7M

Select item 34997462.

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

Luca Bello, Paola Melacini, Raffaele Pezzani, Adele D'Amico, Luisa Piva, Emanuela Leonardi, Annalaura Torella, Gianni Soraru, Arianna Palmieri, Gessica Smaniotto, Bruno F Gavassini, Andrea Vianello, Vincenzo Nigro, Enrico Bertini, Corrado Angelini, Silvio C E Tosatto, Elena Pegoraro

Eur J Hum Genet. 2012 Dec; 20(12): 1234–1239. Published online 2012 May 2. doi: 10.1038/ejhg.2012.71

PMCID:: PMC3499746

Abstract Article PDF–1.1M

Select item 18549603.

Expression of the Murine Pomt1 Gene in Both the Developing Brain and Adult Muscle Tissues and Its Relationship with Clinical Aspects of Walker-Warburg Syndrome

Belén Prados, Almudena Peña, Rocío P. Cotarelo, M. Carmen Valero, Jesús Cruces

Am J Pathol. 2007 May; 170(5): 1659–1668. doi: 10.2353/ajpath.2007.061264

PMCID:: PMC1854960

Abstract Article PDF–2.5M

Select item 5402774.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

Select item 5210955.

Targeted disruption of the Walker–Warburg syndrome gene Pomt1 in mouse results in embryonic lethality

Tobias Willer, Belén Prados, Juan Manuel Falcón-Pérez, Ingrid Renner-Müller, Gerhard K. H. Przemeck, Mark Lommel, Antonio Coloma, M. Carmen Valero, Martin Hrabé de Angelis, Widmar Tanner, Eckhard Wolf, Sabine Strahl, Jesús Cruces

Proc Natl Acad Sci U S A. 2004 Sep 28; 101(39): 14126–14131. Published online 2004 Sep 21. doi: 10.1073/pnas.0405899101

Correction in:: Proc Natl Acad Sci U S A. 2004 Nov 9; 101(45): 16081.

PMCID:: PMC521095

Abstract Article PDF–672K

Select item 4199996.

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voit, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner

Am J Hum Genet. 2002 Nov; 71(5): 1033–1043. Published online 2002 Oct 4. doi: 10.1086/342975

PMCID:: PMC419999

Abstract Article PDF–1.1M

Select item 1392417.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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