Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Autor: Julika Borde, Yael Laitman, Britta Blümcke, Dieter Niederacher, Konstantin Weber-Lassalle, Christian Sutter, Andreas Rump, Norbert Arnold, Shan Wang-Gohrke, Judit Horváth, Andrea Gehrig, Gunnar Schmidt, Véronique Dutrannoy, Juliane Ramser, Julia Hentschel, Alfons Meindl, Christopher Schroeder, Barbara Wappenschmidt, Christoph Engel, Karoline Kuchenbaecker, Rita K. Schmutzler, Eitan Friedman, Eric Hahnen, Corinna Ernst

Publikováno v: BMC Cancer, Vol 22, Iss 1, Pp 1-9 (2022)

Abstract Background Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be affected by a variety of intrinsic and

Externí odkaz: https://doaj.org/article/d015c012069441ee82eb7df529d64307

L-Fucose treatment of FUT8-CDG

Autor: Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100680- (2020)

FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the sever

Externí odkaz: https://doaj.org/article/32505d3b040d441eb33e4c3aeb30d740

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Autor: Margot R.F. Reijnders, Annette Seibt, Melanie Brugger, Ideke J.C. Lamers, Torsten Ott, Oliver Klaas, Judit Horváth, Ailsa M.S. Rose, Isabel M. Craghill, Theresa Brunet, Elisabeth Graf, Katharina Mayerhanser, Debby Hellebrekers, David Pauck, Eva Neuen-Jacob, Richard J.T. Rodenburg, Dagmar Wieczorek, Dirk Klee, Ertan Mayatepek, Gertjan Driessen, Robert Bindermann, Luisa Averdunk, Klaus Lohmeier, Margje Sinnema, Alexander P.A. Stegmann, Ronald Roepman, James A. Poulter, Felix Distelmaier

PURPOSE: Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the Rag heterodimer is RagC (Ras-related GTP-bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89b484ac490f63a015f5c30c47ab25ec
https://doi.org/10.1016/j.gim.2023.100838

Synthesis of Spiro[cycloalkane-pyridazinones] with High Fsp3 Character Part 2*

Autor: Miklós Dékány, Áron Szigetvári, Csilla Sepsey Für, László Hazai, György Keglevich, Eszter Judit Horváth, Hedvig Bölcskei

Publikováno v: Letters in Organic Chemistry. 18:373-381

Abstract: An extended compound library of spiro[cycloalkane-pyridazinones] with a high Fsp3 character is targeted. There are two possibilities to improve the physicochemical parameters of a drug candidate molecules or building blocks, either to repla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a03d8b0e9975764f536db6ab36b28fd
https://doi.org/10.2174/1570178617999200728214211

Designing Stationary Reaction–Diffusion Patterns in pH Self-Activated Systems

Autor: István Szalai, Patrick De Kepper, Judit Horváth

Publikováno v: Accounts of Chemical Research
Accounts of Chemical Research, American Chemical Society, 2018, 51 (12), pp.3183-3190. ⟨10.1021/acs.accounts.8b00441⟩

Since Alan Turing's 1952 pioneering work, reaction-diffusion (RD) processes are regarded as prototype mechanisms for pattern formation in living systems. Though suspected in many aspects of morphogenetic development, pure RD patterns have not yet bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f50e17a47f681b97b8ff2abc0954d6
https://doi.org/10.1021/acs.accounts.8b00441