Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Hannah, Wallaschek"'
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionRare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants tha
Externí odkaz:
https://doaj.org/article/896bf4e8faa345b8adbfceb60593f5b7
Autor:
Nicole Huge, Thea Reinkens, Reena Buurman, Maria Sandbothe, Anke Bergmann, Hannah Wallaschek, Beate Vajen, Amelie Stalke, Melanie Decker, Marlies Eilers, Vera Schäffer, Oliver Dittrich-Breiholz, Engin Gürlevik, Florian Kühnel, Brigitte Schlegelberger, Thomas Illig, Britta Skawran
Publikováno v:
Cancer Cell International, Vol 22, Iss 1, Pp 1-16 (2022)
Abstract Background In hepatocellular carcinoma (HCC), histone deacetylases (HDACs) are frequently overexpressed. This results in chromatin compaction and silencing of tumor-relevant genes and microRNAs. Modulation of microRNA expression is a potenti
Externí odkaz:
https://doaj.org/article/3da413d23a3548bfa6c3093759f16cd4
Autor:
Judith Penkert, Andre Märtens, Martin Seifert, Bernd Auber, Katja Derlin, Ursula Hille-Betz, Philipp Hörmann, Norman Klopp, Jana Prokein, Lisa Schlicker, Frank Wacker, Hannah Wallaschek, Brigitte Schlegelberger, Karsten Hiller, Tim Ripperger, Thomas Illig
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Individuals carrying a pathogenic germline variant in the breast cancer predisposition gene BRCA1 (gBRCA1+) are prone to developing breast cancer. Apart from its well-known role in DNA repair, BRCA1 has been shown to powerfully impact cellular metabo
Externí odkaz:
https://doaj.org/article/9309d18b7a0b491289529b4fa3c4cfa3
Autor:
Nicole Huge, Thea Reinkens, Reena Buurman, Maria Sandbothe, Anke Bergmann, Hannah Wallaschek, Beate Vajen, Amelie Stalke, Melanie Decker, Marlies Eilers, Vera Schäffer, Oliver Dittrich-Breiholz, Engin Gürlevik, Florian Kühnel, Brigitte Schlegelberger, Thomas Illig, Britta Skawran
Publikováno v:
Cancer cell international. 22(1)
Background In hepatocellular carcinoma (HCC), histone deacetylases (HDACs) are frequently overexpressed. This results in chromatin compaction and silencing of tumor-relevant genes and microRNAs. Modulation of microRNA expression is a potential treatm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afeb4c5b9a5ffa850368cbb2cdf4eee3
https://pubmed.ncbi.nlm.nih.gov/35578240
https://pubmed.ncbi.nlm.nih.gov/35578240
Autor:
Delphine Héron, Wendy Mears, Smrithi Salian, William Boyce Burns, Julia Russo, Elliot S. Stolerman, Valentina Serpieri, David A. Dyment, Philippe M. Campeau, Susanne Morlot, Kristin Herman, Thi Tuyet Mai Nguyen, Ginevra Zanni, Boris Keren, Rachel Rock, Raffaella Cusmai, Efrat Sofrin-Drucker, Hannah Wallaschek, Alison M.R. Castle, Julie R. Jones, Devon L. Johnstone, Haim Bassan
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Background and ObjectivesTo expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency.MethodsAn international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35b417666bc25381eeb42bc61aaf37f
https://hal.sorbonne-universite.fr/hal-03409007
https://hal.sorbonne-universite.fr/hal-03409007
Autor:
Ursula Hille-Betz, Hannah Wallaschek, Marcel Tauscher, Jana Lisa van Luttikhuizen, Karl Hackmann, Judith Penkert, Winfried Hofmann, Brigitte Schlegelberger, Doris Steinemann, Evelin Schröck, Thomas Illig, C Scholz, Bernd Auber, Stephanie Schubert, Colin F. Davenport, Janin Bublitz, Gunnar Schmidt, Lena Wendeburg
Publikováno v:
International Journal of Cancer. 144:2683-2694
NGS-based multiple gene panel resequencing in combination with a high resolution CGH-array was used to identify genetic risk factors for hereditary breast and/or ovarian cancer in 237 high risk patients who were previously tested negative for pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60918bfd45975a5df4d8f269940507cf
https://doi.org/10.1002/ijc.31992
https://doi.org/10.1002/ijc.31992
Publikováno v:
International Journal of Environmental Research and Public Health, Vol 18, Iss 4338, p 4338 (2021)
International Journal of Environmental Research and Public Health
Volume 18
Issue 8
International Journal of Environmental Research and Public Health
Volume 18
Issue 8
Carriers of pathogenic variants causing hereditary breast and ovarian cancer (HBOC) are confronted with a high risk to develop malignancies early in life. The present study aimed to determine the type of psychological distress and coping ability in w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0bd5ced5bc2fbc8e51b2703116f4a13
https://www.mdpi.com/1660-4601/18/8/4338
https://www.mdpi.com/1660-4601/18/8/4338
Autor:
Alison M R, Castle, Smrithi, Salian, Haim, Bassan, Efrat, Sofrin-Drucker, Raffaella, Cusmai, Kristin C, Herman, Delphine, Heron, Boris, Keren, Devon L, Johnstone, Wendy, Mears, Susanne, Morlot, Thi Tuyet Mai, Nguyen, Rachel, Rock, Elliot, Stolerman, Julia, Russo, William Boyce, Burns, Julie R, Jones, Valentina, Serpieri, Hannah, Wallaschek, Ginevra, Zanni, David A, Dyment, Philippe M, Campeau
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives To expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency. Methods An international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::afde4b50de755eebf07828956cdae117
https://pubmed.ncbi.nlm.nih.gov/34703884
https://pubmed.ncbi.nlm.nih.gov/34703884