Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Annekatrin, Wernstedt"'
Autor:
Anja Pfau, Karen I. López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree E.C. Smith, Jiddeke M. van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C. Luft, Peter S. Aronson, Anna Köttgen, Thomas J. Jentsch, Felix Knauf
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 3 (2023)
Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulf
Externí odkaz:
https://doaj.org/article/c70d5d8f3506419b8e69ebb496d32f97
Autor:
Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, Klaus Oberhuber, Hendrik Gottschling, Simon Schnaiter, Nicolaus Friedrichs, Sabine Merkelbach-Bruse, Johannes Zschocke, Richard Gallon, Katharina Wimmer
Publikováno v:
Biomolecules, Vol 12, Iss 10, p 1350 (2022)
Colorectal cancer (CRC) in adolescents and young adults (AYA) is very rare. Known predisposition syndromes include Lynch syndrome (LS) due to highly penetrant MLH1 and MSH2 alleles, familial adenomatous polyposis (FAP), constitutional mismatch-repair
Externí odkaz:
https://doaj.org/article/337cc4e8d5b0408a9c929a8731c0e320
Publikováno v:
PLoS Genetics, Vol 7, Iss 11, p e1002371 (2011)
Long interspersed (L1) and Alu elements are actively amplified in the human genome through retrotransposition of their RNA intermediates by the -100 still retrotranspositionally fully competent L1 elements. Retrotransposition can cause inherited dise
Externí odkaz:
https://doaj.org/article/1c16ed9fb0684d108a57ebb0dc5a1807
Autor:
Johannes Zschocke, Christian P. Kratz, Annekatrin Wernstedt, Tim Ripperger, Julia Vogt, Katharina Wimmer, Brigitte Pabst
Publikováno v:
European Journal of Human Genetics. 24:1598-1604
Biallelic PMS2 mutations are responsible for more than half of all cases of constitutional mismatch repair deficiency (CMMRD), a recessively inherited childhood cancer predisposition syndrome. The mismatch repair gene PMS2 is partly embedded within o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329c2e0d666d25d1c703e0f3196e0cd5
https://doi.org/10.1038/ejhg.2016.75
https://doi.org/10.1038/ejhg.2016.75
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
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
https://doi.org/10.1038/ejhg.2012.117
Autor:
Heidi Fiegl, Ingrid Weber, Laura Pölsler, Katharina Wimmer, Albert Amberger, Annekatrin Wernstedt, Raphael Johannes Morscher, Christian Marth, Johannes Zschocke, Anne Oberguggenberger, Willi Oberaigner, Christine Fauth, Pia Traunfellner, B Sperner-Unterweger, Michael Hubalek
Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in a routine diagnostic setting. The prevalence of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef63fda3ad412920843ac7fba168d8a
https://hdl.handle.net/20.500.14017/eb9edfb4-e2dd-4d7b-a4a4-e730becf227e
https://hdl.handle.net/20.500.14017/eb9edfb4-e2dd-4d7b-a4a4-e730becf227e
Autor:
Katharina Wimmer, Johannes Zschocke, Noemie Staehli, Salvatore Girlando, Ludwine Messiaen, Emanuele Valtorta, Franco Armelao, Giancarlo Marra, Annekatrin Wernstedt, Karl Heinimann, Roberto Togni, Michael Baudis
Publikováno v:
Genes, Chromosomes & Cancer
Heterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one third of these mutations are genomic deletions. Their detection is complicated by a pseudogene (PMS2CL), which – owing to extensive interparalog sequence exchange
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7399d01359f4478c66f039350fd11c65
https://doi.org/10.1002/gcc.21966
https://doi.org/10.1002/gcc.21966
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1167
The presence of highly homologous pseudocopies can compromise the mutation analysis of a gene of interest. In particular, when using PCR-based strategies, pseudogene co-amplification has to be effectively prevented. This is often achieved by using pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a447385c31b938d3546f59c610f6bdff
https://pubmed.ncbi.nlm.nih.gov/24823786
https://pubmed.ncbi.nlm.nih.gov/24823786
Autor:
Katharina Wimmer, Annekatrin Wernstedt
Publikováno v:
Methods in Molecular Biology ISBN: 9781493908349
The presence of highly homologous pseudocopies can compromise the mutation analysis of a gene of interest. In particular, when using PCR-based strategies, pseudogene co-amplification has to be effectively prevented. This is often achieved by using pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7688808a64bdab80c9a1cd6d79730a6
https://doi.org/10.1007/978-1-4939-0835-6_20
https://doi.org/10.1007/978-1-4939-0835-6_20
Autor:
Eric Legius, Magdalena Chmara, Eline Beert, Henning Hamm, Katharina Wimmer, Hilde Brems, Imke Bieber, Raf Sciot, Marleen Renard, Annekatrin Wernstedt, Tina Giner, Bartosz Wasag, Hilde Peeters
Publikováno v:
Genes, Chromosomes and Cancer.
Constitutional mismatch repair deficiency (CMMR-D) due to biallelic germline mutations in one of four mismatch repair genes causes a childhood cancer syndrome characterized by a broad tumor spectrum including hematological malignancies, and brain and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f1d7f6b481cf39974c905dce84b991b
https://doi.org/10.1002/gcc.22061
https://doi.org/10.1002/gcc.22061