Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Autor: Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynthesis have been repor

Externí odkaz: https://doaj.org/article/a4aa68993920432aa840c0b0466ef63d

Antimicrobial Peptide Omiganan Enhances Interferon Responses to Endosomal Toll‐Like Receptor Ligands in Human Peripheral Blood Mononuclear Cells

Autor: Karen E. Malone, Matthijs Moerland, Silvana M.G. Jirka, Tess D. Woutman, G. Feiss, Hendrika W. Grievink, Robert Rissmann, Mascha Schoonakker

Publikováno v: Clinical and Translational Science
Clinical and Translational Science, Vol 13, Iss 5, Pp 891-895 (2020)
Clinical and Translational Science, 13(5), 891-895. WILEY

LL-37 is a cationic antimicrobial peptide and the sole human member of cathelicidins. Besides its bactericidal properties, LL-37 is known to have direct immunomodulatory effects, among which enhancement of antiviral responses via endosomal toll-like

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d551a15881fccbd3c49390b4f1f8fd8
http://europepmc.org/articles/PMC7485948

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Autor: Shawn Ritchie, Tarik Luisman, Tara C. Smith, Karen E. Malone

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

Background Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynthesis have been reported to dr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83f0b25f775484aba9a2ac1381b6130f
https://pubmed.ncbi.nlm.nih.gov/34229749

Whole blood assay as a model for in vitro evaluation of inflammasome activation and subsequent caspase-mediated interleukin-1 beta release

Autor: Matthijs Moerland, Jacobus Burggraaf, Dimitar Tasev, Karen E. Malone, Hendrika W. Grievink, Cornelis Kluft, Thi Anh Thu Tran, Katarzyna Lipinska

Publikováno v: PLoS ONE
PLoS ONE, Vol 14, Iss 4, p e0214999 (2019)

Processing of pro-interleukin (IL)-1β and IL-18 is regulated by multiprotein complexes, known as inflammasomes. Inflammasome activation results in generation of bioactive IL-1β and IL-18, which can exert potent pro-inflammatory effects. Our aim was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af383dcebdb2f040599f30cea587d56b
http://europepmc.org/articles/PMC6453527

MDCO-216 Does Not Induce Adverse Immunostimulation, in Contrast to Its Predecessor ETC-216

Autor: Matthijs Moerland, Joannes A. A. Reijers, David Kallend, J. Burggraaf, Peter L.J. Wijngaard, Johan Wouter Jukema, Karen E. Malone

Publikováno v: Cardiovascular Drugs and Therapy
Cardiovascular Drugs and Therapy, 31(4), 381-389

Purpose Aim of this study was to demonstrate that MDCO-216 (human recombinant Apolipoprotein A-I Milano) does not induce adverse immunostimulation, in contrast to its predecessor, ETC-216, which was thought to contain host cell proteins (HCPs) that e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc959458f237293ef5178c3986e87b95
https://hdl.handle.net/1887/95096