PMC Links for Nucleotide (Select 1676325235) - PMC

Select item 64116701.

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk, Peter van Tintelen, Elke R. Gizewski, Rebekka Groebner, Johannes Zschocke, Marjo S. van der Knaap

Neurogenetics. 2019; 20(1): 1–8. Published online 2018 Dec 8. doi: 10.1007/s10048-018-0560-x

PMCID:: PMC6411670

Abstract Article PDF–3.7M

Select item 56098112.

Deficiency of Complement 1r subcomponent in early-onset SLE: Role for disease-modifying alleles in a monogenic disease

Erkan Demirkaya, Qing Zhou, Carolyne K. Smith, Michael J. Ombrello, Natalie Deuitch, Wanxia L. Tsai, Patrycja Hoffmann, Elaine F. Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C. Chandrasekharappa, Sarfaraz A Hasni, Amanda K. Ombrello, Massimo Gadina, Daniel L. Kastner, Mariana J. Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich

Arthritis Rheumatol. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Arthritis Rheumatol. 2017 Sep; 69(9): 1832–1839. Published online 2017 Jul 10. doi: 10.1002/art.40158

PMCID:: PMC5609811

Abstract Article PDF–574K

Select item 55316113.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 52930734.

Structure and activation of C1, the complex initiating the classical pathway of the complement cascade

Simon A. Mortensen, Bjoern Sander, Rasmus K. Jensen, Jan Skov Pedersen, Monika M. Golas, Jens C. Jensenius, Annette G. Hansen, Steffen Thiel, Gregers R. Andersen

Proc Natl Acad Sci U S A. 2017 Jan 31; 114(5): 986–991. Published online 2017 Jan 19. doi: 10.1073/pnas.1616998114

PMCID:: PMC5293073

Abstract Article PDF–1.1M

Select item 50979485.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J. Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J. Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L. Mitchell, Deborah A. Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F. Michael Pope, Molecular Basis of Periodontal EDS Consortium, Peter H. Byers, Johannes Zschocke

Am J Hum Genet. 2016 Nov 3; 99(5): 1005–1014. Published online 2016 Oct 13. doi: 10.1016/j.ajhg.2016.08.019

PMCID:: PMC5097948

Abstract Article PDF–1.6M

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