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PubMed (GeneRIF) for id: 715

24 results

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C1q binding to surface-bound IgG is stabilized by C1r2s2 proteases.
Zwarthoff SA, Widmer K, Kuipers A, Strasser J, Ruyken M, Aerts PC, de Haas CJC, Ugurlar D, den Boer MA, Vidarsson G, van Strijp JAG, Gros P, Parren PWHI, van Kessel KPM, Preiner J, Beurskens FJ, Schuurman J, Ricklin D, Rooijakkers SHM. Zwarthoff SA, et al. Proc Natl Acad Sci U S A. 2021 Jun 29;118(26):e2102787118. doi: 10.1073/pnas.2102787118. Proc Natl Acad Sci U S A. 2021. PMID: 34155115 Free PMC article.
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.
Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER, Groebner R, Zschocke J, van der Knaap MS. Kapferer-Seebacher I, et al. Neurogenetics. 2019 Mar;20(1):1-8. doi: 10.1007/s10048-018-0560-x. Epub 2018 Dec 8. Neurogenetics. 2019. PMID: 30535813 Free PMC article.
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.
Demirkaya E, Zhou Q, Smith CK, Ombrello MJ, Deuitch N, Tsai WL, Hoffmann P, Remmers EF, Takeuchi M, Park YH, Chae J, Barut K, Simsek D, Adrovic A, Sahin S, Caliskan S, Chandrasekharappa SC, Hasni SA, Ombrello AK, Gadina M, Kastner DL, Kaplan MJ, Kasapcopur O, Aksentijevich I. Demirkaya E, et al. Arthritis Rheumatol. 2017 Sep;69(9):1832-1839. doi: 10.1002/art.40158. Epub 2017 Jul 10. Arthritis Rheumatol. 2017. PMID: 28544690 Free PMC article.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
24 results