@article{UBHD-69163972, author={Ahmad, Natalie and Fazeli, Walid and Schließke, Sophia and Lesca, Gaetan and Gokce-Samar, Zeynep and Mekbib, Kedous Y. and Jin, Sheng Chih and Burton, Jennifer and Hoganson, George and Petersen, Andrea and Gracie, Sara and Granger, Leslie and Bartels, Enrika and Oppermann, Henry and Kundishora, Adam and Till, Marianne and Milleret-Pignot, Clara and Dangerfield, Shane and Viskochil, David and Anderson, Katherine J. and Palculict, Timothy Blake and Schnur, Rhonda E. and Wentzensen, Ingrid M. and Tiller, George E. and Kahle, Kristopher T. and Kunz, Wolfram S. and Burkart, Sebastian and Simons, Matias and Sticht, Heinrich and Abou Jamra, Rami and Neuser, Sonja}, title={De novo variants in RAB11B cause various degrees of lobal developmental delay and intellectual disability in children}, year={2023}, pages={164-171}, language={eng}, issn={1873-5150}, volume={148}, note={Gesehen am 22.01.2024}, journal={Pediatric neurology}, doi={10.1016/j.pediatrneurol.2023.08.023}, } @article{UBHD-69032521, author={Boettcher, Susanne and Simons, Matias}, title={Model organisms for functional validation in genetic renal disease}, year={2022}, pages={287-296}, language={eng}, issn={1863-5490}, volume={34}, number={4}, note={Gesehen am 01.02.2023}, journal={Medizinische Genetik}, doi={10.1515/medgen-2022-2162}, } @article{UBHD-68698969, author={Cannata Serio, Magda and Graham, Laurie A. and Ashikov, Angel and Larsen, Lars Elmann and Raymond, Kimiyo and Timal, Sharita and Meur, Gwenn Le and Ryan, Margret and Czarnowska, Elzbieta and Jansen, Jos C. and He, Miao and Ficicioglu, Can and Pichurin, Pavel and Hasadsri, Linda and Minassian, Berge and Rugierri, Alessandra and Kalimo, Hannu and Ríos‐Ocampo, W. Alfredo and Gilissen, Christian and Rodenburg, Richard and Jonker, Johan W. and Holleboom, Adriaan G. and Morava, Eva and Veltman, Joris A. and Socha, Piotr and Stevens, Tom H. and Simons, Matias and Lefeber, Dirk J.}, title={Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease}, year={2020}, pages={1968-1986}, language={eng}, issn={1527-3350}, volume={72}, number={6}, note={Gesehen am 15.02.2021}, journal={Hepatology}, doi={10.1002/hep.31218}, } @article{UBHD-69236371, author={Christer, Salómon and Simons, Matias}, title={Lysosomal cystine accumulation activates mTOR signaling in cystinosis}, subtitle={are mTOR inhibitors the cure?}, year={2024}, pages={656-658}, language={eng}, issn={1523-1755}, volume={105}, number={4 vom: Apr.}, note={Online verf{\"u}gbar: 20. M{\"a}rz 2024 ; Gesehen am 22.07.2024}, journal={Kidney international}, doi={10.1016/j.kint.2023.11.030}, } @article{UBHD-69084284, author={Hermle, Tobias Franz and Simons, Matias}, title={ER stress and slit diaphragms}, subtitle={is there a connection?}, year={2023}, pages={830-832}, language={eng}, issn={1523-1755}, volume={103}, number={5 vom: Apr.}, note={Gesehen am 12.06.2023}, journal={Kidney international}, doi={10.1016/j.kint.2023.01.028}, } @article{UBHD-68938739, author={Pérez-Martí, Albert and Ramakrishnan, Suresh Krishna and Li, Jiayi and Dugourd, Aurélien and Molenaar, Martijn R and De La Motte, Luigi R and Grand, Kelli and Mansouri, Anis and Parisot, Mélanie and Lienkamp, Soeren S and Sáez Rodríguez, Julio and Simons, Matias}, title={Reducing lipid bilayer stress by monounsaturated fatty acids protects renal proximal tubules in diabetes}, year={2022}, pages={1-31}, language={eng}, issn={2050-084X}, volume={11}, number={Artikel-ID e74391}, note={Gesehen am 06.07.2022}, journal={eLife}, doi={10.7554/eLife.74391}, } @book{UBHD-65561093, author={Simons, Matias}, title={Zellul{\"a}re Mechanismen im Kontext der glomerul{\"a}ren Filtration}, subtitle={molekulare Charakterisierung der Fortsatzbildung von Podozyten und des Aufbaus der glomerul{\"a}ren Schlitzmembran}, year={2002}, pages={109 Bl.}, language={ger}, school={Heidelberg, Univ., Diss., 2002}, library={UB [Signatur: 2002 U 693]}, } @article{UBHD-69085563, author={Uglebjerg, Nicoline and Ahmadizar, Fariba and Aly, Dina M. and Cañadas-Garre, Marisa and Hill, Claire and Naber, Annemieke and Oddsson, Asmundur and Singh, Sunny S. and Smyth, Laura and Trégouët, David-Alexandre and Chaker, Layal and Ghanbari, Mohsen and Steinthorsdottir, Valgerdur and Ahlqvist, Emma and Hadjadj, Samy and Van Hoek, Mandy and Kavousi, Maryam and McKnight, Amy Jayne and Sijbrands, Eric J. and Stefansson, Kari and Simons, Matias and Rossing, Peter and Ahluwalia, Tarun Veer Singh}, title={Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes}, subtitle={A genetic association study in Europeans}, year={2023}, pages={1-11}, language={eng}, issn={1664-2392}, volume={14}, number={Artikel-ID 1081741}, note={Gesehen am 14.06.2023}, journal={Frontiers in endocrinology}, doi={10.3389/fendo.2023.1081741}, }