PMC Links for OMIM (Select 120920) - PMC

Select item 42443081.

Common variants associated with general and MMR vaccine-related febrile seizures

Bjarke Feenstra, Björn Pasternak, Frank Geller, Lisbeth Carstensen, Tongfei Wang, Fen Huang, Jennifer L. Eitson, Mads V. Hollegaard, Henrik Svanström, Mogens Vestergaard, David M. Hougaard, John W. Schoggins, Lily Yeh Jan, Mads Melbye, Anders Hviid

Nat Genet. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Nat Genet. 2014 Dec; 46(12): 1274–1282. Published online 2014 Oct 26. doi: 10.1038/ng.3129

PMCID:: PMC4244308

Abstract Article PDF–1.6M

Select item 21892152.

Structural gene for human membrane cofactor protein (MCP) of complement maps to within 100 kb of the 3' end of the C3b/C4b receptor gene

J Exp Med. 1989 Feb 1; 169(2): 597–602. doi: 10.1084/jem.169.2.597

PMCID:: PMC2189215

Summary PDF–546K

Select item 21889573.

Molecular cloning and chromosomal localization of human membrane cofactor protein (MCP). Evidence for inclusion in the multigene family of complement-regulatory proteins

J Exp Med. 1988 Jul 1; 168(1): 181–194. doi: 10.1084/jem.168.1.181

PMCID:: PMC2188957

Summary PDF–892K

Select item 21188784.

Membrane cofactor protein of the complement system: alternative splicing of serine/threonine/proline-rich exons and cytoplasmic tails produces multiple isoforms that correlate with protein phenotype

J Exp Med. 1991 Jul 1; 174(1): 93–102. doi: 10.1084/jem.174.1.93

PMCID:: PMC2118878

Summary PDF–1.4M

Select item 18958745.

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Jessica Caprioli, Marina Noris, Simona Brioschi, Gaia Pianetti, Federica Castelletti, Paola Bettinaglio, Caterina Mele, Elena Bresin, Linda Cassis, Sara Gamba, Francesca Porrati, Sara Bucchioni, Giuseppe Monteferrante, Celia J. Fang, M. K. Liszewski, David Kavanagh, John P. Atkinson, Giuseppe Remuzzi, for the International Registry of Recurrent and Familial HUS/TTP

Blood. 2006 Aug 15; 108(4): 1267–1279. Prepublished online 2006 Apr 18. doi: 10.1182/blood-2005-10-007252

PMCID:: PMC1895874

Abstract Article

Select item 17359466.

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

V Fremeaux-Bacchi, E Kemp, J Goodship, M Dragon-Durey, L Strain, C Loirat, H Deng, T Goodship

J Med Genet. 2005 Nov; 42(11): 852–856. Published online 2005 Mar 22. doi: 10.1136/jmg.2005.030783

PMCID:: PMC1735946

Summary PDF–70K

Select item 16937237.

Ligation of the cell surface receptor, CD46, alters T cell polarity and response to antigen presentation

Jane Oliaro, Anupama Pasam, Nigel J. Waterhouse, Kylie A. Browne, Mandy J. Ludford-Menting, Joseph A. Trapani, Sarah M. Russell

Proc Natl Acad Sci U S A. 2006 Dec 5; 103(49): 18685–18690. Published online 2006 Nov 20. doi: 10.1073/pnas.0602458103

PMCID:: PMC1693723

Abstract Article PDF–2.5M

Select item 14146328.

Gene expression patterns in human placenta

Ruchira Sood, James L. Zehnder, Maurice L. Druzin, Patrick O. Brown

Proc Natl Acad Sci U S A. 2006 Apr 4; 103(14): 5478–5483. Published online 2006 Mar 27. doi: 10.1073/pnas.0508035103

PMCID:: PMC1414632

Abstract Article PDF–4.1M

Select item 2407289.

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

Anna Richards, Elizabeth J. Kemp, M. Kathryn Liszewski, Judith A. Goodship, Anne K. Lampe, Ronny Decorte, M. Hamza Müslümanogğlu, Salih Kavukcu, Guido Filler, Yves Pirson, Leana S. Wen, John P. Atkinson, Timothy H. J. Goodship

Proc Natl Acad Sci U S A. 2003 Oct 28; 100(22): 12966–12971. Published online 2003 Oct 17. doi: 10.1073/pnas.2135497100

PMCID:: PMC240728

Abstract Article PDF–503K

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