Esther Schamschula
Innsbruck Medical University
7 Papers
12 Citations
Esther Schamschula is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 2, co-authored 2 publications.
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Papers
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Katharina Wimmer,Esther Schamschula,Annekatrin Wernstedt,Pia Traunfellner,Albert Amberger,Johannes Zschocke,Peter M. Kroisel,Yunjia Chen,Tom Callens,Ludwine Messiaen +9 more
TL;DR: It is demonstrated that the pyrimidine to purine transversion NM_000267.3(NF1):c.1722‐11T>G, although expected to weaken the polypyrimidine tract, causes exon skipping primarily by introducing a novel AG in the AG‐exclusion zone (AGEZ) between the authentic 3′ss AG and the branch point.
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Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.
Richard Gallon,R. Phelps,Christine Hayes,Laurence Brugières,Léa Guerrini-Rousseau,Chrystelle Colas,Martine Muleris,Neil A J Ryan,D. Gareth Evans,Hannah Grice,Emily Jessop,Annabel Kunzemann-Martinez,Lilla Marshall,Esther Schamschula,Klaus Oberhuber,Amedeo A. Azizi,Hagit Baris Feldman,Andreas Beilken,Nina Brauer,Triantafyllia Brozou,Karin Dahan,Ugur Demirsoy,Benoit Florkin,William D. Foulkes,Danuta Januszkiewicz-Lewandowska,Kristi J. Jones,Christian P. Kratz,Stephan Lobitz,Julia Meade,Michaela Nathrath,Hans-Jürgen Pander,Claudia Perne,Iman A. Ragab,Tim Ripperger,Thorsten Rosenbaum,Daniel Rueda,Tomasz Sarosiek,Astrid Sehested,Isabel Spier,Manon Suerink,Stefanie Zimmermann,Johannes Zschocke,Gillian M. Borthwick,Katharina Wimmer,John Burn,Michael S. Jackson,Mauro Santibanez-Koref +46 more
TL;DR: In this article , the authors quantified microsatellite instability (cMSI) in a large CMMRD patient cohort to explore genotype-phenotype correlations, using novel MSI markers selected for instability in blood.
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Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis
Esther Schamschula,Miriam Kinzel,Annekatrin Wernstedt,Klaus Oberhuber,Hendrik Gottschling,Simon Schnaiter,Nicolaus Friedrichs,Sabine Merkelbach-Bruse,Johannes Zschocke,Richard Gallon,Katharina Wimmer +10 more
TL;DR: It is shown to the authors' knowledge for the first time that AYA-CRC cases can be caused by digenic inheritance of each a heterozygous pathogenic variant (PV) in the mismatch-repair (MMR) gene PMS2 and the proofreading polymerase (PP) Pol δ gene POLD1, in two teenage siblings with CRC.
Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum
Ceres Fernandez-Rozadilla,Miriam Alvarez-Barona,Esther Schamschula,Sahra Bodo,Anael López-Novo,A Dacal,Consuelo Calviño-Costas,A. Lancho,Jorge Amigo,Xabier Bello,José Manuel Cameselle-Teijeiro,Angel Carracedo,Chrystelle Colas,Martine Muleris,Katharina Wimmer,Clara Ruiz-Ponte +15 more
TL;DR: The data support the idea that low-risk modifier alleles may influence early development of cancer in LS leading to a LS-to-CMMRD phenotypic continuum and propose that this variant, together with other candidates, could be responsible for age-of-onset modulation.
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Array genotyping as diagnostic approach in medical genetics
Martina Witsch-Baumgartner,Gunda Schwaninger,Simon Schnaiter,Franziska Kollmann,Silja Burkhard,Rebekka Gröbner,Beatrix E Mühlegger,Esther Schamschula,Peter Kirchmeier,Johannes Zschocke +9 more
TL;DR: The present study examined the diagnostic value of a standard genotyping array (Illumina Global Screening Array) for a range of indications and showed a high analytical sensitivity and specificity of array‐based analyses for validated and non‐validated variants.
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