Mismatch Repair Genes

Autor: Päivi Peltomäki, Minttu Kansikas, Minna Nyström

Publikováno v: eLS

The mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The primary role of MMR is to correct errors such as base/base mismatches and small insertions/deletions that arise during DNA synthesis and recombination. Keywor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::10e875f8283194e2c91b1f18b348a290
https://doi.org/10.1002/9780470015902.a0006045.pub2

Disorders of DNA repair mechanisms and their clinical significance

Autor: Minttu, Kansikas, Minna, Nyström, Päivi, Peltomäki

Publikováno v: Duodecim; laaketieteellinen aikakauskirja. 133(3)

DNA repair mechanisms maintain genome stability by preventing the multiplication of genetic errors, caused by environmental factors and intracellular processes, during cell division. Unrepaired damage may permanently alter genome and cell functions,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e91f7d4ab0f5a2c73eeb0f89aab6b997
https://pubmed.ncbi.nlm.nih.gov/29205024

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Autor: Mieke M. van Haelst, Rutger A.J. Nievelstein, Stephen P. Robertson, Milan Rimac, Danielle Bodmer, Michael T. Gabbett, Minna Nyström, Annekatrin Wernstedt, Johan Offerhaus, Birgit Krabichler, Johannes Zschocke, Martine Raphael, Katharina Wimmer, Minttu Kansikas, Wayne Nicholls, Ulrich Strasser, Annette F. Baas

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 21(1), 55-61. Nature Publishing Group
Baas, A F, Gabbett, M, Rimac, M, Kansikas, M, Raphael, M, Nievelstein, R A, Nicholls, W, Offerhaus, J, Bodmer, D, Wernstedt, A, Krabichler, B, Strasser, U, Nyström, M, Zschocke, J, Robertson, S P, van Haelst, M M & Wimmer, K 2013, ' Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome ', European Journal of Human Genetics, vol. 21, no. 1, pp. 55-61 . https://doi.org/10.1038/ejhg.2012.117
European journal of human genetics, 21(1), 55-61. Nature Publishing Group

Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::811d7648984e4a2c4bd71f4755cb7893
https://doi.org/10.1038/ejhg.2012.117

Assessing How Reduced Expression Levels of the Mismatch Repair Genes

Autor: Minttu Kansikas, Mariann Kasela, Jukka Kantelinen, Minna Nystrxf6m

Publikováno v: Human Mutation.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=erc_________::e8481541b100315642fe2aed2b96e613

Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance

Autor: Minna Nyström, Minttu Kansikas

Publikováno v: DNA Alterations in Lynch Syndrome ISBN: 9789400765962

Knowing that inherited defects in mismatch repair (MMR) genes predispose to Lynch syndrome (LS), the identification of these mutations in suspected LS families is of prime importance. However, a major problem in the diagnosis and management of LS is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6fea3a9dea9e62dbcb34d5b27dbca6f4
https://doi.org/10.1007/978-94-007-6597-9_5