Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Pierre Hilven"'
Autor:
Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L. Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S. Swanson, Alexander Gheldof, Claudia Spits, D. Karen
Publikováno v:
Biology Open, Vol 11, Iss 1 (2022)
Skeletal muscle tissue is severely affected in myotonic dystrophy type 1 (DM1) patients, characterised by muscle weakness, myotonia and muscle immaturity in the most severe congenital form of the disease. Previously, it was not known at what stage du
Externí odkaz:
https://doaj.org/article/18c90ea6abe240b6b187510af8fdf853
Autor:
Simon Ardui, Claudia Spits, Joris Vermeesch, Geoffrey Duqué, Alexander Gheldof, Silvie Franck, Joke Allemeersch, Pierre Hilven, Dominika Dziedzicka, Fien Vanroye, Yannick De Vlaeminck, Lise Barbé, Karen Sermon
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene, where expansion size and somatic mosaicism correlates with disease severity and age of onset. While it is known that the mismatch repair protein MSH2 contributes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6affc08e28437152db51fb8118248ddd
https://biblio.vub.ac.be/vubir/msh2-knockdown-shows-ctg-repeat-stability-and-concomitant-upstream-demethylation-at-the-dmpk-locus-in-myotonic-dystrophy-type-1-human-embryonic-stem-cells(21e21ba3-53a1-42e9-a30a-9d3a7cae4a0f).html
https://biblio.vub.ac.be/vubir/msh2-knockdown-shows-ctg-repeat-stability-and-concomitant-upstream-demethylation-at-the-dmpk-locus-in-myotonic-dystrophy-type-1-human-embryonic-stem-cells(21e21ba3-53a1-42e9-a30a-9d3a7cae4a0f).html
Publikováno v:
Vrije Universiteit Brussel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::791df31e22143abc90554d0fb3e469a5
https://biblio.vub.ac.be/vubir/msh2-knock-down-triggers-trinucleotide-instability-in-myotonic-dystrophy-type-i-human-embryonic-stem-cells(935fdf76-80ae-43bd-98d0-d37f529c192b).html
https://biblio.vub.ac.be/vubir/msh2-knock-down-triggers-trinucleotide-instability-in-myotonic-dystrophy-type-i-human-embryonic-stem-cells(935fdf76-80ae-43bd-98d0-d37f529c192b).html
Autor:
Pierre Hilven, Nele De Temmerman, Sara Seneca, Karen Sermon, Andre Van Steirteghem, Ingeborg Liebaers, Martine De Rycke, Willy Lissens
Publikováno v:
Vrije Universiteit Brussel
The CTG repeat at the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene shows marked intergenerational and somatic instability in patients with myotonic dystrophy (DM1), when the repeat is expanded to more than approximate
Publikováno v:
European Journal of Biochemistry. 270:1014-1024
In Saccharomyces cerevisiae, which uses the nonlinear pathway of arginine biosynthesis, the first two enzymes, N-acetylglutamate synthase (NAGS) and N-acetylglutamate kinase (NAGK), are controlled by feedback inhibition. We have previously shown that
Publikováno v:
Journal of Biological Chemistry. 276:42869-42880
Open reading frame YJL071W ofSaccharomyces cerevisiae was shown to be ARG2and identified as the structural gene for acetylglutamate synthase, first step in arginine biosynthesis. The three Ascomycete acetylglutamate synthases characterized to date ap
Publikováno v:
European Journal of Biochemistry. 250:232-241
We have cloned by functional complementation and characterized the yeast ARG7 gene encoding mitochondrial ornithine acetyltransferase, the enzyme catalyzing the fifth step in arginine biosynthesis. While forming ornithine, this enzyme regenerates ace
Autor:
Pierre Hilven, Karen Sermon, Claudia Spits, Jodie P. Simard, Christopher E. Pearson, Patrick Haentjens, Anna Seriola
Publikováno v:
Human molecular genetics. 20(1)
Huntington's disease (HD) and myotonic dystrophy (DM1) are caused by trinucleotide repeat expansions. The repeats show different instability patterns according to the disorder, cell type and developmental stage. Here we studied the behavior of these
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (10), pp.700. ⟨10.1136/jmg.2009.074211⟩
Vrije Universiteit Brussel
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (10), pp.700. ⟨10.1136/jmg.2009.074211⟩
Vrije Universiteit Brussel
International audience; We have studied the methylation status of the sequence 152 nucleotides upstream of the CTG repeat of the DM1 locus in patients' peripheral blood. We used the methylation-sensitive endonucleases SacII, HpaII and HhaI, followed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78a4d02f43ad159fa4f52d78d69b2ec2
https://hal.archives-ouvertes.fr/hal-00557380/document
https://hal.archives-ouvertes.fr/hal-00557380/document
Autor:
Pierre Hilven, Ingeborg Liebaers, Elke Geuns, Nele De Temmerman, Andre Van Steirteghem, Martine De Rycke
Publikováno v:
Vrije Universiteit Brussel
Imprinting is a non-Mendelian form of inheritance where epigenetic modifications control mono-allelic expression depending on the parental origin. Methylation of CpG-dinucleotides at differentially methylated regions (DMRs) is one of the best-studied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6ac3cc45e6f949de6607d577adb59f
https://hdl.handle.net/20.500.14017/f895ebc6-d2cd-48a7-91b8-f78aedf74c37
https://hdl.handle.net/20.500.14017/f895ebc6-d2cd-48a7-91b8-f78aedf74c37