Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Olivier M. Vanakker"'
Autor:
Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In this report, we present two families with PXE in which paternal germline mosaicism for an
Externí odkaz:
https://doaj.org/article/479cde1bfdb14a16b0132e744b3865e7
Publikováno v:
Biomolecules, Vol 13, Iss 11, p 1621 (2023)
Zebrafish are increasingly becoming an important model organism for studying the pathophysiological mechanisms of human diseases and investigating how these mechanisms can be effectively targeted using compounds that may open avenues to novel treatme
Externí odkaz:
https://doaj.org/article/57b518cf4f0a4e25b22fc613b4105f1b
Autor:
Christopher Lindenkamp, Ricarda Plümers, Michel R. Osterhage, Olivier M. Vanakker, Judith Van Wynsberghe, Cornelius Knabbe, Doris Hendig
Publikováno v:
Biomedicines, Vol 11, Iss 10, p 2673 (2023)
Previous studies revealed a link between inflammation and overactivation of the Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signaling in syndromes associated with aging. Pseudoxanthoma elasticum (PXE), a rare autosomal-
Externí odkaz:
https://doaj.org/article/44a0ddada541404e99cc3aedeb89eca3
Autor:
Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah, Olivier M. Vanakker
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract With the advancements in genetics and genomics in the twenty-first century, genetic services have become an integral part of medical practices in high-income and upper-middle-income countries. However, people living in low and lower-middle-i
Externí odkaz:
https://doaj.org/article/1b9b88fd0db24689a0d3dda74ddb5d59
Autor:
Lukas L. Nollet, Olivier M. Vanakker
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 15288 (2022)
Ectopic calcification (EC) is characterized by an abnormal deposition of calcium phosphate crystals in soft tissues such as blood vessels, skin, and brain parenchyma. EC contributes to significant morbidity and mortality and is considered a major hea
Externí odkaz:
https://doaj.org/article/326e4b4ab77b4facbffc5405fddbb596
Autor:
Eva Y. G. De Vilder, Ludovic Martin, Georges Lefthériotis, Paul Coucke, Filip Van Nieuwerburgh, Olivier M. Vanakker
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Introduction: Pseudoxanthoma elasticum (PXE), an ectopic mineralization disorder caused by pathogenic ABCC6 variants, is characterized by skin, ocular and cardiovascular (CV) symptoms. Due to striking phenotypic variability without genotype-phenotype
Externí odkaz:
https://doaj.org/article/0a7d47e021de4c4bbb2ae7637c12ffa9
Autor:
Loukman Omarjee, Jacques-Olivier Fortrat, Antoine Larralde, Estelle Le Pabic, Gilles Kauffenstein, Maxence Laot, Nastassia Navasiolava, Pierre-Jean Mention, Juan Luis Carrillo Linares, Pedro Valdivielso, Olivier M. Vanakker, Guillaume Mahé, Ludovic Martin, Georges Lefthériotis
Publikováno v:
Journal of Stroke, Vol 21, Iss 1, Pp 108-111 (2019)
Externí odkaz:
https://doaj.org/article/9bae894c25a645aabab1d8449d2d07c9
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1838 (2022)
Pseudoxanthoma elasticum (PXE) is an intractable Mendelian disease characterized by ectopic calcification in skin, eyes and blood vessels. Recently, increased activation of the DNA damage response (DDR) was shown to be involved in PXE pathogenesis, w
Externí odkaz:
https://doaj.org/article/1c468d5775474244b42073ebd351c5c5
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 2, p 240 (2017)
Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding GGCX gene ar
Externí odkaz:
https://doaj.org/article/091ce54863ae4abcbf04f884f2e8af0c
Autor:
Olivier M. Vanakker
Publikováno v:
Frontiers in Genetics, Vol 4 (2013)
Externí odkaz:
https://doaj.org/article/7f17e6d784ac49fa99c05e25089058a3