Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome

Autor: Vivien R. Schack, Morten K. Herlin, Henrik Pedersen, J. Magnus Bernth Jensen, Mia Færch, Bettina Bundgaard, Rasmus K. Jensen, Uffe B. Jensen, Rikke Christensen, Gregers R. Andersen, Steffen Thiel, Per Höllsberg

Publikováno v: Schack, V R, Herlin, M K, Pedersen, H, Jensen, J M B, Faerch, M, Bundgaard, B, Jensen, R K, Jensen, U B, Christensen, R, Andersen, G R, Thiel, S & Höllsberg, P 2022, ' Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome ', European Journal of Immunology, vol. 52, no. 10, pp. 1610-1619 . https://doi.org/10.1002/eji.202249838

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that may lead to organ failure. Dysregulation of the complement system can cause aHUS, and various disease-related variants in the complement regulatory protein CD46 are descri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0955c70b7024967005b4f960aee77931
https://doi.org/10.1002/eji.202249838

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.

Autor: Herlin, Morten K, Le, Vang Q, Højland, Allan T, Ernst, Anja, Okkels, Henrik, Petersen, Astrid C, Petersen, Michael B, Pedersen, Inge S

Publikováno v: Human Reproduction; Sep2019, Vol. 34 Issue 9, p1838-1846, 9p, 2 Diagrams, 3 Charts