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Claus-Eric Ott

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Recent Articles
11.
Barnes D, Rookus M, McGuffog L, Leslie G, Mooij T, Dennis J, et al.
Genet Med . 2020 Jul; 22(10):1653-1666. PMID: 32665703
Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods:...
12.
Moscu-Gregor A, Marschall C, Muntjes C, Schonecker A, Schuessler-Hahn F, Hohendanner F, et al.
J Cardiovasc Electrophysiol . 2020 Mar; 31(6):1527-1535. PMID: 32173957
Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. The most common form of CPVT is due to autosomal dominant variants in...
13.
Patel V, Busch E, Friebel T, Cronin A, Leslie G, McGuffog L, et al.
Cancer Res . 2019 Nov; 80(3):624-638. PMID: 31723001
Pathogenic sequence variants (PSV) in or () are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in were associated with risk of overall prostate cancer...
14.
Danyel M, Ott C, Grenkowitz T, Salewsky B, Hicks A, Fuchsberger C, et al.
Sci Rep . 2019 Aug; 9(1):11995. PMID: 31427613
Familial hypercholesterolemia (FH) is characterised by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) and a substantial risk for cardiovascular disease. The autosomal-dominant FH is mostly caused by mutations in...
15.
Hsieh T, Mensah M, Pantel J, Aguilar D, Bar O, Bayat A, et al.
Genet Med . 2019 Jun; 21(12):2807-2814. PMID: 31164752
Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods:...
16.
Schwarz C, Ott C, Wulsten D, Brauer E, Schreivogel S, Petersen A, et al.
JBMR Plus . 2018 Oct; 2(3):174-186. PMID: 30283901
Successful fracture healing requires a tight interplay between mechanical and biological cues. In vitro studies illustrated that mechanical loading modulates bone morphogenetic protein (BMP) signaling. However, in the early phases...
17.
Castori M, Ott C, Bisceglia L, Leone M, Mazza T, Castellana S, et al.
Am J Med Genet A . 2018 Sep; 176(9):2028-2033. PMID: 30194892
Cadherins are cell-adhesion molecules that control morphogenesis, cell migration, and cell shape changes during multiple developmental processes. Until now four distinct cadherins have been implicated in human Mendelian disorders, mainly...
18.
Khayal L, Grunhagen J, Provaznik I, Mundlos S, Kornak U, Robinson P, et al.
Bone . 2018 Apr; 113:29-40. PMID: 29653293
Osteoblastic differentiation is a multistep process characterized by osteogenic induction of mesenchymal stem cells, which then differentiate into proliferative pre-osteoblasts that produce copious amounts of extracellular matrix, followed by stiffening...
19.
Chan W, Steiner M, Witkos T, Egerer J, Busse B, Mizumoto S, et al.
PLoS Genet . 2018 Mar; 14(3):e1007242. PMID: 29561836
Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi protein of poorly characterized function. To circumvent neonatal lethality of...
20.
Schreiber I, Dorpholz G, Ott C, Kragesteen B, Schanze N, Lee C, et al.
Sci Rep . 2017 Dec; 7(1):17192. PMID: 29222456
Insulin-resistance is the main cause of type 2 diabetes. Here we describe the identification and characterization of BMP2 and BMP6 as new insulin-sensitizing growth factors in mature adipocytes. We show...