Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Berthold Struk"'
Autor:
R.G. Panizzon, Klaus Lindpaintner, Berthold Struk, S. Christen‐Zäch, Daniel Hohl, M. Huber, F. Munier
Publikováno v:
British Journal of Dermatology. 155:89-93
Summary Background Pseudoxanthoma elasticum (PXE) is a genetic disorder due to mutations in the gene encoding the transmembrane transporter protein adenosine triphosphate binding cassette (ABC)-C6, resulting in calcification of elastic fibres in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79100e405984115ee3d5ea6d1b750870
https://doi.org/10.1111/j.1365-2133.2006.07278.x
https://doi.org/10.1111/j.1365-2133.2006.07278.x
Autor:
Robert I. Richards, Kenneth H. Neldner, Berthold Struk, Ulf-Peter Guenther, Sarah A. Neldner, David F. Callen, Daniel Hohl, Hans Knoblauch, Klaus Lindpaintner, Raj Ramesar, Amanda L. Lumsden, Stéphanie Zäch, Li Cai
Publikováno v:
Journal of Molecular Medicine. 79:536-546
Pseudoxanthoma elasticum (PXE) is an inherited disorder of the elastic tissue with characteristic progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Recently mutations in the ABCC6 gene, encoding a transmembrane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::832e56ab6599bc3b20175827db9b8adb
https://doi.org/10.1007/s001090100275
https://doi.org/10.1007/s001090100275
Publikováno v:
Human Heredity. 52:102-109
Objective: Given the cost and complexity of genome-wide scans, optimization of study design is of critical importance. Available algorithms only partially satisfy this need. We designed a software package called ‘POLYMORPHISM’ to meet these needs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f5d23740d50ba367a9249bbb2f2e0a2
https://doi.org/10.1159/000053361
https://doi.org/10.1159/000053361
Autor:
Raj Ramesar, Mark Raymond Adams, Joon Chung, Tianhua Niu, Thomas Haaf, Luis E. Figuera, Klaus Lindpaintner, Franziska Ringpfeil, David F. Callen, Berthold Struk, Bradford Verrecchia, Robert I. Richards, Ung-Jin Kim, Mark Lebwohl, Lowell A. Goldsmith, So Hee Dho, Markus Stumm, Hyung-Lyun Kang, Kenneth H. Neldner, Denis Viljoen, Li Cai, Lori Schaen, Xuequn Xu, Wan Ji, Daniel Hohl, Karsten Lunze, Jouni Uitto, J.K. Nancarrow, Wayne Fuchs, Norman A. Doggett, Stéphanie Zäch
Publikováno v:
Journal of Molecular Medicine. 78:36-46
We have recently mapped the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and cardiovascular system, to chromosome 16p13.1. Here we report fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a372db508368d1fbd71ca237532533a8
https://doi.org/10.1007/s001090000079
https://doi.org/10.1007/s001090000079
Autor:
Berthold Struk, Klaus Lindpaintner, Phillippe Stock, Norbert Hubner, Detlev Ganten, Reinhold Kreutz
Publikováno v:
Circulation. 96:1078-1081
Background We investigated whether an accelerated heart rate (HR), observed in the stroke-prone spontaneously hypertensive rat (SHRSP HD ), is a primary, genetically determined trait and whether it contributes to blood pressure (BP) regulation in thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0826822367985282375e26f57526fbc3
https://doi.org/10.1161/01.cir.96.4.1078
https://doi.org/10.1161/01.cir.96.4.1078
Autor:
Dorothee Foernzler, Ulf-Peter Guenther, Klaus Lindpaintner, Mark Lebwohl, Robert I. Richards, Stephanie Christen-Zäch, Sara Miksch, Kenneth H. Neldner, Carol Daugherty, Rajkumar Ramesar, Berthold Struk, Amanda L. Lumsden, Daniel Hohl
Publikováno v:
Human mutation. 26(3)
Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faba10f99ed448dfe20b64c4b95ade67
https://pubmed.ncbi.nlm.nih.gov/16086317
https://pubmed.ncbi.nlm.nih.gov/16086317
Publikováno v:
Atherosclerosis. 154(3)
The T allele at position -260 of the CD14 lipopolysaccharide receptor gene (CD14) has recently been hypothesized to be a risk factor for myocardial infarction (MI). However, no prospective data relating this polymorphism to risk of future MI are avai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764006a9de9df76e3b1533709dcfa016
https://pubmed.ncbi.nlm.nih.gov/11257272
https://pubmed.ncbi.nlm.nih.gov/11257272
Publikováno v:
Human molecular genetics. 6(11)
Pseudoxanthoma elasticum (PXE) is a classic inherited disorder of the elastic tissue characterized by progressive calcification of elastic fibers with a pathognomonic histological appearance. The clinical manifestations of PXE typically involve the s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844dfcecec5fd38322af7faff34346a2
https://pubmed.ncbi.nlm.nih.gov/9302259
https://pubmed.ncbi.nlm.nih.gov/9302259
Publikováno v:
Hypertension (Dallas, Tex. : 1979). 28(5)
Previous studies have revealed conflicting evidence concerning a Y-chromosome effect on blood pressure (BP) in genetic crosses involving different strains of spontaneously hypertensive rats (SHR or SHRSP). We had previously found an ≈16 mm Hg diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29633293e9b873f21278a9c93ff7d127
https://pubmed.ncbi.nlm.nih.gov/8901841
https://pubmed.ncbi.nlm.nih.gov/8901841