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RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
Názov RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference Autor Etzler J. Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Ficek Andrej SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV Spoluautori Peyrl A. Schildhaus H.U. Merkelbach-Bruse S. Kratz C.P. Attarbaschi A. Haifellner J.A. Yao S. Messiaen L. Slavc I. Wimmer K. Zdroj.dok. Human Mutation. Vol.29, Isuue 2 (2008), p. 299-305 Jazyk dok. eng - angličtina Krajina US - Spojené štáty Druh dok. rozpis článkov z periodík (rbx) Ohlasy GERYKOV-BUJALKOVA, M. - KRIVULCIK, T. - BARTOSOVA, Z. Novel approaches in evaluation of pathogenicity of single-base exonic germline changes involving the mismatch repair genes MLH1 and MSH2 in diagnostics of Lynch syndrome Minireview. In NEOPLASMA. ISSN 0028-2685, 2008, vol. 55, no. 6, pp. 463-471. ROY, Sumita - RASKIN, Leon - RAYMOND, Victoria A. - THIBODEAU, Stephen N. - MODY, Rajen J. - GRUBER, Stephen B. Pediatric Duodenal Cancer and Biallelic Mismatch Repair Gene Mutations. In PEDIATRIC BLOOD & CANCER. ISSN 1545-5009, 2009, vol. 53, no. 1, pp. 116-120. NIESSEN, Renee C. - KLEIBEUKER, Jan H. - WESTERS, Helga - JAGER, Paul O. J. - ROZEVELD, Dennie - BOS, Krista K. - BOERSMA-VAN EK, Wytske - HOLLEMA, Harry - SIJMONS, Rolf H. - HOFSTRA, Robert M. W. PMS2 Involvement in Patients Suspected of Lynch Syndrome. In GENES CHROMOSOMES & CANCER. ISSN 1045-2257, 2009, vol. 48, no. 4, pp. 322-329. PINEDA, Marta - GONZALEZ, Sara - LAZARO, Conxi - BLANCO, Ignacio - CAPELLA, Gabriel. Detection of genetic alterations in hereditary colorectal cancer screening. In MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2010, vol.693, no.1-2, 19-31. SHENG, Xia - ZHOU, Heng-Hua - ZHOU, Xiao-Yan - DU, Xiang - ZHANG, Tai-Ming - CAI, San-Jun - SHENG, Wei-Qi - SHI, Da-Ren. Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer. In WORLD JOURNAL OF GASTROENTEROLOGY, 2010, vol.16, no.30, 3847-3852. TALSETH-PALMER, Bente A. - MCPHILLIPS, Mary - GROOMBRIDGE, Claire - SPIGELMAN, Allan - SCOTT, Rodney J. MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. In HEREDITARY CANCER IN CLINICAL PRACTICE, 2010, vol.8, no.. RIPPERGER, Tim - BEGER, Carmela - RAHNER, Nils - SYKORA, Karl W. - BOCKMEYER, Clemens L. - LEHMANN, Ulrich - KREIPE, Hans H. - SCHLEGELBERGER, Brigitte. Constitutional mismatch repair deficiency and childhood leukemia/lymphoma report on a novel biallelic MSH6 mutation. In HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, vol.95, no.5, 841-844. VAN DER KLIFT, Heleen M. - TOPS, Carli M. J. - BIK, Elsa C. - BOOGAARD, Merel W. - BORGSTEIN, Anne-Marijke - HANSSON, Kerstin B. M. - AUSEMS, Margreet G. E. 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Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. In CLINICAL GENETICS. ISSN 0009-9163, 2011, vol. 80, no. 6, pp. 558-565. JOHANNESMA, P. C. - VAN DER KLIFT, H. M. - VAN GRIEKEN, N. C. T. - TROOST, D. - TE RIELE, H. - JACOBS, M. A. J. M. - POSTMA, T. J. - HEIDEMAN, D. A. M. - TOPS, C. M. J. - WIJNEN, J. T. - MENKO, F. H. Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. In CLINICAL GENETICS. ISSN 0009-9163, 2011, vol. 80, no. 3, pp. 243-255. HERKERT, Johanna C. - NIESSEN, Renee C. - OLDERODE-BERENDS, Maria J. W. - VEENSTRA-KNOL, Hermine E. - VOS, Yvonne J. - VAN DER KLIFT, Heleen M. - SCHEENSTRA, Rene - TOPS, Carli M. J. - KARRENBELD, Arend - PETERS, Frans T. M. - HOFSTRA, Robert M. W. - KLEIBEUKER, Jan H. - SIJMONS, Rolf H. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines. In EUROPEAN JOURNAL OF CANCER. ISSN 0959-8049, 2011, vol. 47, no. 7, pp. 965-982. ILENCIKOVA, Denisa - SEJNOVA, Daniela - JINDROVA, Jana - BABAL, Pavel. High-Grade Brain Tumors in Siblings With Biallelic MSH6 Mutations. In PEDIATRIC BLOOD & CANCER. ISSN 1545-5009, 2011, vol. 57, no. 6, pp. 1067-1070. VREESWIJK, Maaike P. G. - VAN DER KLIFT, Heleen M. Analysis and Interpretation of RNA Splicing Alterations in Genes Involved in Genetic Disorders. In EXON SKIPPING: METHODS AND PROTOCOLS. ISSN 1064-3745, 2012, vol. 867, no., pp. 49-63. POLISENO, Laura. Pseudogenes: Newly Discovered Players in Human Cancer. In SCIENCE SIGNALING. ISSN 1937-9145, 2012, vol. 5, no. 242, pp. RAHNER, Nils - STEINKE, Verena - SCHLEGELBERGER, Brigitte - EISINGER, Francois - HUTTER, Pierre - OLSCHWANG, Sylviane. Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) update 2012. In EUROPEAN JOURNAL OF HUMAN GENETICS. 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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes. In EUROPEAN JOURNAL OF HUMAN GENETICS. ISSN 1018-4813, 2019, vol. 27, no. 12, pp. 1808-1820. JANSEN, Anne M. L. - TOPS, Carli M. J. - RUANO, Dina - VAN EIJK, Ronald - WIJNEN, Juul T. - TEN BROEKE, Sanne - NIELSEN, Maartje - HES, Frederik J. - VAN WEZEL, Tom - MORREAU, Hans. The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material. In EUROPEAN JOURNAL OF HUMAN GENETICS. ISSN 1018-4813, 2020, vol. 28, no. 3, pp. 333-338. Dostupné na: https://doi.org/10.1038/s41431-019-0527-x. CARRATO, Cristina - SANZ, Carolina - MUNOZ-MARMOL, Ana Maria - BLANCO, Ignacio - PINEDA, Marta - DEL VALLE, Jesus - DAMASO, Estela - ESTELLER, Manel - MUSULEN, Eva. The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals. 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In INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2022, vol. 18, no. 7, pp. 2821-2832. ISSN 1449-2288. Dostupné na: https://doi.org/10.7150/ijbs.71714. WU, Di - CHEN, Qingshan - CHEN, Jian. Case Report: Malignant Brain Tumors in Siblings With MSH6 Mutations. In FRONTIERS IN ONCOLOGY, 2022, vol. 12, no., pp. ISSN 2234-943X. Dostupné na: https://doi.org/10.3389/fonc.2022.920305. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2008 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1002/humu.20657 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2008 2007 6.273 Q1 2.148 Q1
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