PMC Links for Protein (Select 18105018) - PMC

Select item 54672051.

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

Snaevar Sigurdsson, Kristjan F. Alexandersson, Patrick Sulem, Bjarke Feenstra, Steinunn Gudmundsdottir, Gisli H. Halldorsson, Sigurgeir Olafsson, Asgeir Sigurdsson, Thorunn Rafnar, Thorgeir Thorgeirsson, Erik Sørensen, Andreas Nordholm-Carstensen, Jakob Burcharth, Jens Andersen, Henrik Stig Jørgensen, Emma Possfelt-Møller, Henrik Ullum, Gudmar Thorleifsson, Gisli Masson, Unnur Thorsteinsdottir, Mads Melbye, Daniel F. Gudbjartsson, Tryggvi Stefansson, Ingileif Jonsdottir, Kari Stefansson

Nat Commun. 2017; 8: 15789. Published online 2017 Jun 6. doi: 10.1038/ncomms15789

PMCID:: PMC5467205

Abstract Article PDF–822K

Select item 52801892.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G. Engel, Yoram Nevo

Neuromuscul Disord. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Neuromuscul Disord. 2017 Feb; 27(2): 136–140. Published online 2016 Nov 24. doi: 10.1016/j.nmd.2016.11.014

PMCID:: PMC5280189

Abstract Article PDF–95K

Select item 13779693.

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

K Ohno, J M Brengman, K J Felice, D R Cornblath, A G Engel

Am J Hum Genet. 1999 Sep; 65(3): 635–644. doi: 10.1086/302551

PMCID:: PMC1377969

Summary PDF–565K

Select item 13774914.

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

C Donger, E Krejci, A P Serradell, B Eymard, S Bon, S Nicole, D Chateau, F Gary, M Fardeau, J Massoulié, P Guicheney

Am J Hum Genet. 1998 Oct; 63(4): 967–975. doi: 10.1086/302059

PMCID:: PMC1377491

Summary PDF–1.3M

Select item 213945.

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Kinji Ohno, Joan Brengman, Akira Tsujino, Andrew G. Engel

Proc Natl Acad Sci U S A. 1998 Aug 4; 95(16): 9654–9659. doi: 10.1073/pnas.95.16.9654

PMCID:: PMC21394

Abstract Article PDF–281K

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