Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Lukas Nollet"'
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 20, Iss 9, p 2142 (2019)
Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired diseases characterized by aberrant deposition of calcium crystals in multiple organs, such as the skin, eyes, kidneys, and blood vessels. Although the precise mechani
Externí odkaz:
https://doaj.org/article/954307a379d242df8a0346d213300b46
Autor:
Matthias Van Gils, Justin Depauw, Paul J. Coucke, Shari Aerts, Shana Verschuere, Lukas Nollet, Olivier M. Vanakker
Publikováno v:
Journal of Clinical Medicine
Volume 12
Issue 5
Pages: 1893
JOURNAL OF CLINICAL MEDICINE
Volume 12
Issue 5
Pages: 1893
JOURNAL OF CLINICAL MEDICINE
Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that is caused by biallelic ABCC6 mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of ino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70ae0c927c89c0475557b2021b85208
Autor:
Julie De Zaeytijd, Paul Coucke, Lukas Nollet, Dimitri Hemelsoet, Laurence Campens, Bart P. Leroy, Olivier Vanakker
Publikováno v:
Journal of Medical Genetics. 59:496-504
BackgroundBiallelic pathogenic variants in the ATP-binding cassette subfamily C member 6 (ABCC6) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous ABCC6 variants are associated with an increased r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb4f202b79a61fdb73ccaf43935a6e26
https://doi.org/10.1136/jmedgenet-2020-107565
https://doi.org/10.1136/jmedgenet-2020-107565
Publikováno v:
FEBS Letters. 594:4109-4133
ATP-binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP-dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5920486ef613dba22b8df28d2ebfe6
https://doi.org/10.1002/1873-3468.13981
https://doi.org/10.1002/1873-3468.13981
Publikováno v:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Pseudoxanthoma elasticum (PXE) is a hereditary ectopic calcification disorder affecting the skin, eyes, and blood vessels. Recently, the DNA damage response (DDR), in particular PARP1, was shown to be involved in aberrant mineralization, raising the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58cd6159bee05a143bc5f59ed6cecd25
https://hdl.handle.net/1854/LU-8736764
https://hdl.handle.net/1854/LU-8736764
Autor:
Lukas, Nollet, Laurence, Campens, Julie, De Zaeytijd, Bart, Leroy, Dimitri, Hemelsoet, Paul J, Coucke, Olivier M, Vanakker
Publikováno v:
Journal of medical genetics. 59(5)
Biallelic pathogenic variants in theThe phenotype of 56 individuals carrying heterozygous pathogenicWe found thatIn this study, we delineated the multisystemic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5fa00976cd1b0bcf5578a4c7a5d61df0
https://pubmed.ncbi.nlm.nih.gov/33820832
https://pubmed.ncbi.nlm.nih.gov/33820832