Výsledky vyhledávání - "Silvano Köchl"

A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)

Autor: Walther Parson, Hans Georg Kraft, Silvano Köchl, Friedrich Fresser, Arnulf W. Lingenhel, Harald Niederstätter, Gerd Utermann

Publikováno v: Human Mutation. 24:474-480

LPA, the gene coding for apolipoprotein(a) [apo(a)], is the major determinant of lipoprotein(a) [Lp(a)] plasma levels, which are associated with risk for coronary heart disease (CHD) and stroke. It is not completely understood how variation in LPA re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e38caf6f2345a415ef46a8681567805a
https://doi.org/10.1002/humu.20101

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Male/female DNA mixtures: a challenge for Y-STR analysis

Autor: Burkhard Berger, Walther Parson, Silvano Köchl, Harald Niederstätter, Martin Steinlechner

Publikováno v: International Congress Series. 1239:295-299

We present the optimisation of two Y-STR multiplexes for forensic casework applications especially for the analysis of mixtures of male and female DNA. The procedure involved: (1) a new design of the PCR primers for the loci DYS389, DYS390 and DYS391

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ac54d651cc84a67eb18827aec8ed9e3a
https://doi.org/10.1016/s0531-5131(02)00593-9

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The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins 1 1Edited by A. R. Fersht

Autor: Carol C. Shoulders, John M. Hancock, James Scott, Farhana Hussain, Maryvonne Rosseneu, Berlinda Vanloo, Christopher J. Mann, S. Ann Chester, Penelope J. Ritchie, Recaredo Infante, Paul Bradbury, Silvano Köchl, Jacqueline Read, Timothy A. Anderson, Leonard J. Banaszak, Joanna Amey, David G. Levitt, Georgina B. Harrison

Publikováno v: Journal of Molecular Biology. 285:391-408

The assembly of atherogenic lipoproteins requires the formation in the endoplasmic reticulum of a complex between apolipoprotein (apo)B, a microsomal triglyceride transfer protein (MTP) and protein disulphide isomerase (PDI). Here we show by molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2217ca6fa4a0a8337c571564c5a1e6fc
https://doi.org/10.1006/jmbi.1998.2298

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Molecular characterization of the human protein kinase C θ * gene locus (PRKCQ)

Autor: K. Kofler, Walther Parson, Martin Erdel, Gerd Utermann, Gottfried Baier, Silvano Köchl

Publikováno v: Molecular and General Genetics MGG. 259:398-403

Members of the protein kinase C (PKC) family of serine/threonine kinases, in particular PKCtheta, play critical roles in the regulation of differentiation and proliferation of T lymphocytes. In this study the genomic structure of the human PRKCQ gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4eace9fc5c4021e1e14dc1dbba8c402
https://doi.org/10.1007/s004380050829

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Novel Interaction of Apolipoprotein(a) With β-2 Glycoprotein I Mediated by the Kringle IV Domain

Autor: Friedrich Fresser, Eva Lobentanz, Gerd Utermann, Gottfried Baier, Silvano Köchl

Publikováno v: Blood. 90:1482-1489

Lipoprotein(a) [Lp(a)], which has been shown to interact with fibrin(ogen) and other components of the blood clotting cascade, is a major independent risk factor for atherothrombotic disease in humans. The physiological function(s) of Lp(a), as well

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0a4a2cdf6ac87987bf9409425034cda
https://doi.org/10.1182/blood.v90.4.1482

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Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10)

Autor: Simone Schuffenhauer, Gerd Utermann, Silvano Köchl, Bettina Buchholz, Hans-Christoph Duba, Uli Barth-Witte, M. Erdel, Barbara Utermann

Publikováno v: Human Genetics. 97:784-793

About 70% of patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have a common interstitial de novo microdeletion encompassing paternal (PWS) or maternal (AS) loci D15S9 to D15S12. Most of the non-deletion PWS patients and a small nu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3984e779a344e1fc47f24129e0069db0
https://doi.org/10.1007/bf02346190

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A modular real-time PCR concept for determining the quantity and quality of human nuclear and mitochondrial DNA

Autor: Silvano Köchl, Petra Grubwieser, Marion Pavlic, Walther Parson, Martin Steinlechner, Harald Niederstätter

Publikováno v: Forensic science international. Genetics. 1(1)

We developed a modular real-time (rt) PCR system for absolute quantification of human nuclear (n) and mitochondrial (mt) DNA. For determination of the number of amplifiable template molecules with a minimum length required for downstream genotyping a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e654b8cbc9ddcd3a9b5bdc1de1e2de9f
https://pubmed.ncbi.nlm.nih.gov/19083725

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DNA extraction and quantitation of forensic samples using the phenol-chloroform method and real-time PCR

Autor: Silvano, Köchl, Harald, Niederstätter, Walther, Parson

Publikováno v: Methods in molecular biology (Clifton, N.J.). 297

Forensic laboratories are increasingly confronted with problematic samples from the scene of crime, containing only minute amounts of deoxyribonucleic acid (DNA), which may include polymerase chain reaction (PCR)-inhibiting substances. Efficient DNA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d840ed5d5510ffa4dc94dd2eb4dbd169
https://pubmed.ncbi.nlm.nih.gov/15570097

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