Zobrazeno 1 - 10 of 20 pro vyhledávání: '"Wybrich R Cnossen"'
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Akademický článek
Novel GANAB variants associated with polycystic liver disease
Autor: Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB vari
Externí odkaz: https://doaj.org/article/c710959f5f25452a936f4f4f95599345
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Additional file 3 of Novel GANAB variants associated with polycystic liver disease
Autor: Liyanne F. M. Van De Laarschot, Morsche, René H. M. Te, Hoischen, Alexander, Venselaar, Hanka, Roelofs, Hennie M., Wybrich R. Cnossen, Banales, Jesus M., Roepman, Ronald, Drenth, Joost P. H.
Additional file 3. DNA and protein expression analysis of GIIα. DNA expression of GIIα Wild Type intron (WT) and mutant intron (MT intron) was analysed using qPCR with B-actin (ACTB) as reference. WT expression was 1.46 times higher than MT intron.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5655befa42172c002bbbd27554736c47
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Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes
Autor: Marloes Steehouwer, Meritxell Huch, Joost P.H. Drenth, Edgar S Wills, Jayne Y. Hehir-Kwa, Rene H. M. te Morsche, Alexander Hoischen, Wybrich R Cnossen, Rolph Pfundt, Joris A. Veltman, Ronald Roepman, Rob Woestenenk, Martijn J Banning, Jody Salomon
Publikováno v: European Journal of Human Genetics, 24(12), 1707-1714. Nature Publishing Group
European Journal of Human Genetics, 24, 12, pp. 1707-1714
European Journal of Human Genetics, 24, 1707-1714
Contains fulltext : 167652.pdf (Publisher’s version ) (Closed access) Autosomal dominant polycystic liver disease (ADPLD) is caused by variants in PRKCSH, SEC63, and LRP5, whereas autosomal dominant polycystic kidney disease is caused by variants i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43635c471224833868363be05bae2fc1
https://cris.maastrichtuniversity.nl/en/publications/cd17b41b-cc48-491e-8008-88b478e5464e
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LRP5 variants may contribute to ADPKD
Autor: Joost P.H. Drenth, Wybrich R Cnossen, Carsten Bergmann, Joris A. Veltman, Alexander Hoischen, Martijn H. Breuning, Hanka Venselaar, Dorien J.M. Peters, Monique Losekoot, Soufi Mehdi, Christian Gilissen, Rene H. M. te Morsche
Publikováno v: European Journal of Human Genetics, 24(2), 237-242
European Journal of Human Genetics, 24(2), 237-242. Nature Publishing Group
European Journal of Human Genetics, 24, 237-42
European Journal of Human Genetics, 24, 2, pp. 237-42
Contains fulltext : 167912.pdf (Publisher’s version ) (Closed access) Mutations in Polycystic Kidney Disease proteins (PKD1 or PKD2) are causative for autosomal dominant polycystic kidney disease (ADPKD). However, a small subset of ADPKD probands d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c74c1fe8b0ad9ce9e18fe1bceb6f40c6
http://hdl.handle.net/1887/113242
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Somatic loss of polycystic disease genes contributes to the formation of isolated and polycystic liver cysts: Table 1
Autor: Rolph Pfundt, Manoe J. Janssen, Carsten Bergmann, Wybrich R Cnossen, Jody Salomon, Joost P.H. Drenth
Publikováno v: Gut. 64:688-690
We read with interest the paper by Urribarri et al 1 which describes that metalloprotease hyperactivity plays an important role in cyst expansion and that metalloprotease inhibition reduces cyst proliferation. As such, these results help to identify
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::08be8d21a5db5ce422d35ec82d5abbfd
https://doi.org/10.1136/gutjnl-2014-308062
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Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene
Autor: Wybrich R, Cnossen, Jake S F, Maurits, Jody, Salomon, René H M, Te Morsche, Esmé, Waanders, Joost P H, Drenth
Publikováno v: Journal of clinical laboratory analysis. 30(5)
BACKGROUND: Isolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C substrate 80K‐H (80 kDa protein, heavy chain; MIM*177060) mutations are the most frequent cause
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0695ccec4071f687d212e0604e0aaffe
https://pubmed.ncbi.nlm.nih.gov/26365003
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Characterization of Clinical and Molecular Features Related to the Downregulated Expression of μ-Protocadherin in Colorectal Cancer
Autor: Stefania Bortoluzzi, Fabrizio Ferrarini, ra Parenti, Claudia Gemelli, Alexis Gr, Silvia Pizzini, Sergio Ferrari, Tommaso Zanocco-Marani, Andrea Bisognin, Jean Benhattar, Wybrich R Cnossen Lorena Losi, Lucia Montorsi, Paola Zanovello
Publikováno v: Journal of Carcinogenesis & Mutagenesis.
Mu-protocadherin is a membrane protein belonging to the cadherin superfamily that, as the other members, promotes inter-cellular adhesion and proliferation arrest. Notably, both these onco-suppressive activities are mediated by its capacity to inhibi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f933181f1fce5e9ba98dea4db18ff554
https://doi.org/10.4172/2157-2518.1000155
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A novel twist in polycystic liver disease
Autor: Wybrich R Cnossen, Joost P.H. Drenth
Publikováno v: Gut, 63, 1533-4
Gut, 63, 10, pp. 1533-4
Liver cysts are a frequent finding on radiological imaging. Prevalence rates depend on the technique, but with CT or MRI, simple hepatic cysts are seen in approximately one-fifth of the population.1 Usually no more than one or two small (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1482469d6a5392eb269f999daed7111f
http://hdl.handle.net/2066/137896
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