Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Silvia Di Maio"'
Autor:
Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Lukas Forer, Silvia Di Maio, Hansi Weissensteiner, Bernhard Paulweber, Sebastian Schönherr, Florian Kronenberg, Stefan Coassin
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
Abstract Background Repetitive genome regions, such as variable number of tandem repeats (VNTR) or short tandem repeats (STR), are major constituents of the uncharted dark genome and evade conventional sequencing approaches. The protein-coding LPA kr
Externí odkaz:
https://doaj.org/article/bde48c73a9414062bd1f43f22b094d64
Autor:
Silvia Di Maio, Peter Zöscher, Hansi Weissensteiner, Lukas Forer, Johanna F. Schachtl-Riess, Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Bernhard Paulweber, Florian Kronenberg, Stefan Coassin, Sebastian Schönherr
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-25 (2024)
Abstract Background Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear unresolved (“dark”) in variation databases due to their repetitive natu
Externí odkaz:
https://doaj.org/article/ab698e52e0a648398768a97a206a0fb1
Autor:
Rebecca Grüneis, Hansi Weissensteiner, Claudia Lamina, Sebastian Schönherr, Lukas Forer, Silvia Di Maio, Gertraud Streiter, Annette Peters, Christian Gieger, Florian Kronenberg, Stefan Coassin
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 12, Pp 100306- (2022)
Lipoprotein(a) [Lp(a)] concentrations are regulated by the LPA gene mainly via the large kringle IV-type 2 (KIV-2) copy number variation and multiple causal variants. Early studies suggested an effect of long pentanucleotide repeat (PNR) alleles (10
Externí odkaz:
https://doaj.org/article/7ca7fd1b9f194420b10ece6fefb904c3
Autor:
Silvia Di Maio, Rebecca Grüneis, Gertraud Streiter, Claudia Lamina, Manuel Maglione, Sebastian Schoenherr, Dietmar Öfner, Barbara Thorand, Annette Peters, Kai-Uwe Eckardt, Anna Köttgen, Florian Kronenberg, Stefan Coassin
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-13 (2020)
Abstract Background The concentrations of the highly atherogenic lipoprotein(a) [Lp(a)] are mainly genetically determined by the LPA gene locus. However, up to 70% of the coding sequence is located in the complex so-called kringle IV type 2 (KIV-2) c
Externí odkaz:
https://doaj.org/article/23f36aa90e8d426ea516e0979114e120
Autor:
Johanna F. Schachtl-Riess, Sebastian Schönherr, Claudia Lamina, Lukas Forer, Stefan Coassin, Gertraud Streiter, Azin Kheirkhah, Yong Li, Heike Meiselbach, Silvia Di Maio, Kai-Uwe Eckardt, Anna Köttgen, Florian Kronenberg
Publikováno v:
Atherosclerosis. 368:1-11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4db659e54696db78dae7c496401bf6e1
https://doi.org/10.1016/j.atherosclerosis.2023.01.022
https://doi.org/10.1016/j.atherosclerosis.2023.01.022
Autor:
Rebecca Grüneis, Claudia Lamina, Silvia Di Maio, Sebastian Schönherr, Peter Zoescher, Lukas Forer, Gertraud Streiter, Annette Peters, Christian Gieger, Anna Köttgen, Florian Kronenberg, Stefan Coassin
Publikováno v:
Atherosclerosis 349, 151-159 (2022)
Background and aims: High lipoprotein(a) [Lp(a)] concentrations are associated with increased coronary artery disease (CAD) risk. Lp(a) is regulated mainly genetically by the LPA gene but involved genetic variants have not been fully elucidated. Impr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ea7f3f557245d0b7b6d47ac0b4a2d5
https://doi.org/10.1016/j.atherosclerosis.2022.04.023
https://doi.org/10.1016/j.atherosclerosis.2022.04.023
Autor:
Lukas Forer, Reinhard Würzner, Silvia Di Maio, Stefan Coassin, Florian Kronenberg, Claudia Lamina, Sebastian Schönherr
Publikováno v:
Journal of Internal Medicine
Background Comorbidities including ischemic heart disease (IHD) worsen outcomes after SARS‐CoV‐2 infections. High lipoprotein(a) [Lp(a)] concentrations are a strong risk factor for IHD and possibly for thromboembolic events. We therefore evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6264cec3e24d39874506c420477132b6
https://doi.org/10.1111/joim.13338
https://doi.org/10.1111/joim.13338
Publikováno v:
Neurological Sciences
The above article was published online with inverted given and family names. The correct presentation has been corrected above.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6431363505c9d6d4dd18445eed87b536
Autor:
Florian Kronenberg, Silvia Di Maio, Claudia Lamina, Barbara Thorand, Dietmar Öfner, Annette Peters, Kai-Uwe Eckardt, Stefan Coassin, Gertraud Streiter, Manuel Maglione, Rebecca Grüneis, Anna Köttgen
ObjectiveElevated Lp(a) plasma concentrations are determined mainly genetically by theLPAgene locus, but up to 70% of the coding sequence is located in the so-called “kringle IV type 2” (KIV-2) copy number variation. This region is not resolved b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88d3a84ffde4382b9eba743cf646565c
https://doi.org/10.1101/848945
https://doi.org/10.1101/848945
