From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing.

Autor: Luttikhuizen, Jana Lisa¹ (AUTHOR), Bublitz, Janin¹ (AUTHOR), Schubert, Stephanie¹ (AUTHOR), Schmidt, Gunnar¹ (AUTHOR), Hofmann, Winfried¹ (AUTHOR), Morlot, Susanne¹ (AUTHOR), Buurman, Reena¹ (AUTHOR), Auber, Bernd¹ (AUTHOR), Schlegelberger, Brigitte¹ (AUTHOR), Steinemann, Doris¹ (AUTHOR) Steinemann.Doris@mh-hannover.de

Publikováno v: Molecular Genetics & Genomic Medicine. Sep2020, Vol. 8 Issue 9, p1-5. 5p.

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Human Alpha-1-Antitrypsin (hAAT) therapy reduces renal dysfunction and acute tubular necrosis in a murine model of bilateral kidney ischemia-reperfusion injury

Autor: Maicas, Nuria, van der Vlag, Johan, Bublitz, Janin, Florquin, Sandrine, Bakker-van Bebber, Marinka, Dinarello, Charles A, Verweij, Vivienne, Masereeuw, Roos, Joosten, Leo A, Hilbrands, Luuk B, Afd Pharmacology, Pharmacology

Publikováno v: PLoS ONE
PLoS One, 12(2). Public Library of Science
PLoS ONE, 12(2). Public Library of Science
PLoS ONE, Vol 12, Iss 2, p e0168981 (2017)
PLoS One, 12, 2
PLoS One, 12

Contains fulltext : 169694.pdf (Publisher’s version ) (Open Access) Several lines of evidence have demonstrated the anti-inflammatory and cytoprotective effects of alpha-1-antitrypsin (AAT), the major serum serine protease inhibitor. The aim of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08e7a33153e4bf8added9938e158c8be
https://dspace.library.uu.nl/handle/1874/348253