Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

Autor: Hanne Meijers-Heijboer, A. M. M. Van Pelt, Sherman J. Silber, M M Motazacker, Marielle Alders, Inge B. Mathijssen, Claudia Krallmann, A T Clark, Sabine Kliesch, Nadja Rotte, Frank Tüttelmann, Geert Hamer, Marius Wöste, A Meißner, E Kaminsky, Corinna Friedrich, E S van Walree, B Stallmeyer, T J Hunt, Margot J. Wyrwoll

Publikováno v: Wyrwoll, M J, van Walree, E S, Hamer, G, Rotte, N, Motazacker, M M, Meijers-Heijboer, H, Alders, M, Meißner, A, Kaminsky, E, Wöste, M, Krallmann, C, Kliesch, S, Hunt, T J, Clark, A T, Silber, S, Stallmeyer, B, Friedrich, C, van Pelt, A M M, Mathijssen, I B & Tüttelmann, F 2021, ' Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes ', Human reproduction (Oxford, England), vol. 37, no. 1, pp. 178-189 . https://doi.org/10.1093/humrep/deab230
Human reproduction (Oxford, England), 37(1), 178-189. Oxford University Press

STUDY QUESTION Do bi-allelic variants in the genes encoding the MSH4/MSH5 heterodimer cause male infertility? SUMMARY ANSWER We detected biallelic, (likely) pathogenic variants in MSH5 (4 men) and MSH4 (3 men) in six azoospermic men, demonstrating th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dddf7324047cfe3851c72bbb2a1a1944
https://pubmed.ncbi.nlm.nih.gov/34755185

Proteome of human plasma very low-density lipoprotein and low-density lipoprotein exhibits a link with coagulation and lipid metabolism

Autor: Morteza Mahmoudi, M. M. Motazacker, Maikel P. Peppelenbosch, Farhad Rezaee, Johannes H.M. Levels, Monireh Dashti, M. Marcel Vries

Publikováno v: Thrombosis and Haemostasis, 111(3), 518-530. GEORG THIEME VERLAG KG
Thrombosis and Haemostasis, 111(3), 518-530. Georg Thieme Verlag
Thrombosis and haemostasis, 111(3), 518-530. Schattauer GmbH

SummaryApart from transporting lipids through the body, the human plasma lipoproteins very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) are also thought to serve as a modality for intra-organismal protein transfer, shipping protei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767433d9a9fba6e12d4090b6f3442ecf
https://doi.org/10.1160/th13-02-0178

The Aggregation Potential of the 1-15-and 1-16-Fragments of the Amyloid beta Peptide and Their Influence on the Aggregation of A beta 40

Autor: T. Plug, Martina Huber, J. C. M. Meijers, Nico J. Meeuwenoord, Dmitri V. Filippov, M. M. Motazacker, Maryam Hashemi Shabestari

Publikováno v: Applied magnetic resonance, 44(10), 1167-1179. Springer Wien

The aggregation of amyloid beta (A beta) peptide is important in Alzheimer's disease. Shorter A beta fragments may reduce A beta's cytotoxicity and are used in diagnostics. The aggregation of A beta 16 is controversial; Liu et al. (J. Neurosci. Res.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70a41f8420b00ce5015769692d2563a0
https://doi.org/10.1007/s00723-013-0469-3

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

Autor: A E, Bochem, J C, van Capelleveen, G M, Dallinga-Thie, A W M, Schimmel, M M, Motazacker, I, Tietjen, R R, Singaraja, M R, Hayden, J J P, Kastelein, E S G, Stroes, G K, Hovingh

Publikováno v: Clinical genetics. 85(5)

Apolipoprotein C3 (APOC3) mutations carriers typically display high plasma high-density lipoprotein cholesterol (HDL-C) and low triglycerides (TGs). We set out to investigate the prevalence and clinical consequences of APOC3 mutations in individuals

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b270cd0e7a439dc4ed2f7e022670c4dc
https://pubmed.ncbi.nlm.nih.gov/23701270

Ex situ evaluation of the composition of protein corona of intravenously injected superparamagnetic nanoparticles in rats

Autor: Heinrich Hofmann, Usawadee Sakulkhu, Farhad Rezaee, Marcel P. de Vries, Lionel Maurizi, Azza Gramoun, Morteza Mahmoudi, Marie-Gabrielle Ollivier Beuzelin, M. M. Motazacker, Jean-Paul Vallée

Publikováno v: Nanoscale
Nanoscale, Royal Society of Chemistry, 2014, 6 (19), pp.11439-11450. ⟨10.1039/C4NR02793K⟩
Nanoscale, Vol. 6, No 19 (2014) pp. 11439-1150
Nanoscale, 6(19), 11439-11450. Royal Society of Chemistry
Nanoscale, 6(19), 11439-11450. ROYAL SOC CHEMISTRY

International audience; It is now well recognized that the surfaces of nanoparticles (NPs) are coated with biomolecules (e.g., proteins) in a biological medium. Although extensive reports have been published o n the protein corona at the surface of N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ce2e9a0a77665a0f18ae007663fad4
https://infoscience.epfl.ch/record/203910