Karoline Bjarnesdatter Rypdal

• Strand, Mari Elen; Vanhaverbeke, Maarten; Henkens, Michiel T. H. M.; Sikking, Maurits A.; Rypdal, Karoline Bjarnesdatter & Braathen, Bjørn [Vis alle 11 forfattere av denne artikkelen] (2023). Inflammation and Syndecan-4 Shedding from Cardiac Cells in Ischemic and Non-Ischemic Heart Disease. Biomedicines. 11(4). doi: 10.3390/biomedicines11041066. Fulltekst i vitenarkiv
• Rypdal, Karoline Bjarnesdatter; Melleby, Arne Olav; Robinson, Emma Louise; Li, Jia; Palmero, Sheryl & Deborah E., Seifert [Vis alle 20 forfattere av denne artikkelen] (2022). ADAMTSL3 knock-out mice develop cardiac dysfunction and dilatation with increased TGFβ signalling after pressure overload. Communications Biology. ISSN 2399-3642. 5(1). doi: 10.1038/s42003-022-04361-1. Fulltekst i vitenarkiv
• Andenæs, Kine; Rypdal, Karoline Bjarnesdatter; Palmero, Sheryl; Tønnessen, Theis & Lunde, Ida Gjervold (2022). The small leucine-rich proteoglycan fibromodulin exerts anti-fibrotic effects in cultured human cardiac fibroblasts. Genetics and Molecular Research. ISSN 1676-5680. 21(1). doi: 10.4238/gmr19007. Fulltekst i vitenarkiv
• Rypdal, Karoline Bjarnesdatter; Murugan Erusappan, Pugazendhi; Melleby, Arne Olav; Seifert, Deborah E.; Palmero, Sheryl & Strand, Mari Elen [Vis alle 13 forfattere av denne artikkelen] (2021). The extracellular matrix glycoprotein ADAMTSL2 is increased in heart failure and inhibits TGFβ signalling in cardiac fibroblasts. Scientific Reports. ISSN 2045-2322. 11(1), s. 1–15. doi: 10.1038/s41598-021-99032-2. Fulltekst i vitenarkiv
• Pope, Marita Knudsen; Ratajska, Aleksandra; Johnsen, Hilde; Rypdal, Karoline Bjarnesdatter; Sejersted, Yngve & Paus, Benedicte (2019). Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing. Genetic Testing and Molecular Biomarkers. ISSN 1945-0265. 23(11), s. 783–790. doi: 10.1089/gtmb.2019.0064. Fulltekst i vitenarkiv Vis sammendrag

  Aims: This quality analysis study was designed to review the indications, reports, and clinical consequences of 438 diagnostic next-generation sequencing (NGS) gene panel analyses for hereditary connective tissue disorders (HCTD). Methods: Molecular analyses were retrieved from laboratory databases and patient records, and compared to the clinical information in the requisition and classified according to the Human Phenotype Ontology. Results: In 123 of 438 NGS analyses, 156 sequence variants were reported in 33 of 54 genes analyzed. NGS analyses and, in some cases, postanalytic assessment resulted in identification of pathogenic variants in 40 (9%) of patients, and variants of uncertain significance were identified in 83 (19%) of cases analyzed. While cardiovascular abnormalities were the most common phenotype noted in the requisitions, no specific organ system could be identified in which the reported symptoms provided an actionable indication for the analysis. Certain health issues recorded in the patients’ records were found to be frequently left out of requisitions. Conclusions: The interpretation of genetic sequence variants continues to be a significant challenge in HCTD. Although not associated with the highest diagnostic yield, cardiovascular disease and family history may be suitable indications for NGS due to the clinical consequences of the identification of a known or likely causative sequence variant for a vascular HCTD in patients and relatives.

• Sitek, Jan Cezary; Kulseth, Mari Ann; Rypdal, Karoline Bjarnesdatter; Skodje, Tove; Sheng, Ying & Retterstøl, Lars (2018). Whole-exome sequencing for diagnosis of hereditary ichthyosis. Journal of the European Academy of Dermatology and Venereology. ISSN 0926-9959. 32(6), s. 1022–1027. doi: 10.1111/jdv.14870.

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