Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Hellen Houlleberghs"'
Autor:
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006765 (2017)
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nons
Externí odkaz:
https://doaj.org/article/53dbc2752fd7400fb3a74d5fa6f8649b
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74766 (2013)
Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR) genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2.
Externí odkaz:
https://doaj.org/article/4971804c2cfa4e3f80473767608820c3
Autor:
Susanne R Bruekner, Wietske Pieters, Alexander Fish, A Manuel Liaci, Serge Scheffers, Emily Rayner, Daphne Kaldenbach, Lisa Drost, Marleen Dekker, Sandrine van Hees-Stuivenberg, Elly Delzenne-Goette, Charlotte de Konink, Hellen Houlleberghs, Hendrikus Jan Dubbink, Abeer AlSaegh, Niels de Wind, Friedrich Förster, Hein te Riele, Titia K Sixma
Publikováno v:
Nucleic Acids Research, 51(3), 1173-1188. Oxford University Press
Bruekner, S R, Pieters, W, Fish, A, Liaci, A M, Scheffers, S, Rayner, E, Kaldenbach, D, Drost, L, Dekker, M, van Hees-Stuivenberg, S, Delzenne-Goette, E, de Konink, C, Houlleberghs, H, Dubbink, H J, Alsaegh, A, de Wind, N, Förster, F, te Riele, H & Sixma, T K 2023, ' Unexpected moves : a conformational change in MutSα enables high-affinity DNA mismatch binding ', Nucleic Acids Research, vol. 51, no. 3, pp. 1173-1188 . https://doi.org/10.1093/nar/gkad015
Bruekner, S R, Pieters, W, Fish, A, Liaci, A M, Scheffers, S, Rayner, E, Kaldenbach, D, Drost, L, Dekker, M, van Hees-Stuivenberg, S, Delzenne-Goette, E, de Konink, C, Houlleberghs, H, Dubbink, H J, Alsaegh, A, de Wind, N, Förster, F, te Riele, H & Sixma, T K 2023, ' Unexpected moves : a conformational change in MutSα enables high-affinity DNA mismatch binding ', Nucleic Acids Research, vol. 51, no. 3, pp. 1173-1188 . https://doi.org/10.1093/nar/gkad015
The DNA mismatch repair protein MutSα recognizes wrongly incorporated DNA bases and initiates their correction during DNA replication. Dysfunctions in mismatch repair lead to a predisposition to cancer. Here, we study the homozygous mutation V63E in
Autor:
Hein te Riele, Marleen Dekker, Wietske Pieters, Jarnick Lusseveld, Hellen Houlleberghs, Robert M.W. Hofstra, S. Verhoef, Thomas W. van Ravesteyn
Publikováno v:
Journal of Medical Genetics, 57(5), 308-315. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 57(5), 308-315. BMJ Publishing Group
Journal of Medical Genetics, 57(5), 308-315. BMJ Publishing Group
BackgroundInactivating mutations in the MLH1 DNA mismatch repair (MMR) gene underlie 42% of Lynch syndrome (LS) cases. LS is a cancer predisposition causing early onset colorectal and endometrial cancer. Nonsense and frameshift alterations unambiguou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e52bbff13eb681541a33838bb383a537
https://hdl.handle.net/1887/3185050
https://hdl.handle.net/1887/3185050
Autor:
Hellen, Houlleberghs, Marleen, Dekker, Jarnick, Lusseveld, Wietske, Pieters, Thomas, van Ravesteyn, Senno, Verhoef, Robert M W, Hofstra, Hein, Te Riele
Publikováno v:
Journal of medical genetics. 57(5)
Inactivating mutations in the MLH1 DNA mismatch repair (MMR) gene underlie 42% of Lynch syndrome (LS) cases. LS is a cancer predisposition causing early onset colorectal and endometrial cancer. Nonsense and frameshift alterations unambiguously cause
Autor:
Hendrikus J. Dubbink, Hellen Houlleberghs, Marleen Dekker, Senno Verhoef, Robert M.W. Hofstra, Roos Kleinendorst, Hildo Lantermans, Hein te Riele
Publikováno v:
Proceedings of the National Academy of Sciences of the U.S.A., 113(15), 4128-4133. National Academy of Sciences
Proceedings of the National Academy of Sciences of the United States of America, 113(15), 4128-4133. National Academy of Sciences
Houlleberghs, H, Dekker, M, Lantermans, H, Kleinendorst, R, Dubbink, H J, Hofstra, R M W, Verhoef, S & te Riele, H 2016, ' Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants ', Proceedings of the National Academy of Sciences of the United States of America, vol. 113, no. 15, pp. 4128-4133 . https://doi.org/10.1073/pnas.1520813113
Proceedings of the National Academy of Sciences of the United States of America, 113(15), 4128-4133. National Academy of Sciences
Houlleberghs, H, Dekker, M, Lantermans, H, Kleinendorst, R, Dubbink, H J, Hofstra, R M W, Verhoef, S & te Riele, H 2016, ' Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants ', Proceedings of the National Academy of Sciences of the United States of America, vol. 113, no. 15, pp. 4128-4133 . https://doi.org/10.1073/pnas.1520813113
Single-stranded DNA oligonucleotides can achieve targeted base-pair substitution with modest efficiency but high precision. We show that "oligo targeting" can be used effectively to study missense mutations in DNA mismatch repair (MMR) genes. Inherit
Autor:
Anne Goverde, Fred H. Menko, Arjen R. Mensenkamp, Hein te Riele, Jarnick Lusseveld, Hellen Houlleberghs, Marleen Dekker, Anja Wagner, Robert M.W. Hofstra, Manon C.W. Spaander, Marco J. Bruno
Publikováno v:
PLoS Genetics (online), 13(5):e1006765. Public Library of Science
Plos Genetics, 13, 5, pp. e1006765-e1006765
PLoS Genetics
Plos Genetics, 13, e1006765-e1006765
PLoS Genetics, Vol 13, Iss 5, p e1006765 (2017)
Plos Genetics, 13, 5, pp. e1006765-e1006765
PLoS Genetics
Plos Genetics, 13, e1006765-e1006765
PLoS Genetics, Vol 13, Iss 5, p e1006765 (2017)
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cc4c03b4fcb546f456d28037523bf5a
https://pure.eur.nl/en/publications/2e000d53-628d-4650-a96c-d3b0e162f087
https://pure.eur.nl/en/publications/2e000d53-628d-4650-a96c-d3b0e162f087
Autor:
Hellen Houlleberghs, Tam T. T. Bui, Penka V. Nikolova, Alex F. Drake, Kate Maclagan, Ester Akanho, Franca Fraternali, Assia Merabet, Bruno Pagano
Publikováno v:
Biochemical Journal. 427:225-236
To assess the potential of mutations from the L1 loop of the tumour suppressor p53 as second-site suppressors, the effect of H115N and S116M on the p53 ‘hot spot’ mutations has been investigated using the double-mutant approach. The effects of th
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74766 (2013)
PLoS ONE, 8(9):e74766. Public Library of Science
PLoS ONE
Wielders, E A, Houlleberghs, H, Isik, G & te Riele, H 2013, ' Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients ', PLoS ONE, vol. 8, no. 9, e74766 . https://doi.org/10.1371/journal.pone.0074766
PLoS ONE, 8(9):e74766. Public Library of Science
PLoS ONE
Wielders, E A, Houlleberghs, H, Isik, G & te Riele, H 2013, ' Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients ', PLoS ONE, vol. 8, no. 9, e74766 . https://doi.org/10.1371/journal.pone.0074766
Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR) genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2.
Autor:
Gert-Jan B. van Ommen, Hellen Houlleberghs, Judith C.T. van Deutekom, Annemieke Aartsma-Rus, Peter A C 't Hoen
Publikováno v:
Oligonucleotides, 20(2), 69-77
Antisense-mediated exon skipping is currently the most promising therapeutic approach for Duchenne muscular dystrophy (DMD). The rationale is to use antisense oligonucleotides (AONs) to hide exons from the splicing machinery, causing them to be skipp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27d7cedc66c52b4e3b578fd2425b36e4
https://hdl.handle.net/1887/117711
https://hdl.handle.net/1887/117711