Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

著者: van der Lelij, Petra, Oostra, Anneke B., Rooimans, Martin A., Joenje, Hans, de Winter, Johan P.
出版事項 2010

Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2

著者: Faramarz, Atiq, Balk, Jesper A., van Schie, Janne J. M., Oostra, Anneke B., Ghandour, Cherien A., Rooimans, Martin A., Wolthuis, Rob M. F., de Lange, Job
出版年 PLoS One (2020)

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

著者: van der Lelij, Petra, Chrzanowska, Krystyna H., Godthelp, Barbara C., Rooimans, Martin A., Oostra, Anneke B., Stumm, Markus, Zdzienicka, Małgorzata Z., Joenje, Hans, de Winter, Johan P.
出版事項 2010

Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A

著者: Joenje, Hans, Levitus, Marieke, Waisfisz, Quinten, D’Andrea, Alan, Garcia-Higuera, Irene, Pearson, Tommy, van Berkel, Carola G. M., Rooimans, Martin A., Morgan, Neil, Mathew, Christopher G., Arwert, Fré
出版事項 2000

Evidence for subcomplexes in the Fanconi anemia pathway

著者: Medhurst, Annette L., Laghmani, El Houari, Steltenpool, Jurgen, Ferrer, Miriam, Fontaine, Chantal, de Groot, Jan, Rooimans, Martin A., Scheper, Rik J., Meetei, Amom Ruhikanta, Wang, Weidong, Joenje, Hans, de Winter, Johan P.
出版事項 2006

Coregulation of FANCA and BRCA1 in human cells

著者: Haitjema, Anneke, Mol, Berber M, Kooi, Irsan E, Massink, Maarten PG, Jørgensen, Jens AL, Rockx, Davy AP, Rooimans, Martin A, de Winter, Johan P, Meijers-Heijboer, Hanne, Joenje, Hans, Dorsman, Josephine C
出版事項 2014

Targeting the cell cycle in head and neck cancer by Chk1 inhibition: a novel concept of bimodal cell death

著者: van Harten, Anne M., Buijze, Marijke, van der Mast, Richard, Rooimans, Martin A., Martens-de Kemp, Sanne R., Bachas, Costa, Brink, Arjen, Stigter-van Walsum, Marijke, Wolthuis, Rob M. F., Brakenhoff, Ruud H.
出版年 Oncogenesis (2019)

Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function

著者: de Lange, Job, Faramarz, Atiq, Oostra, Anneke B., de Menezes, Renee X., van der Meulen, Ida H., Rooimans, Martin A., Rockx, Davy A., Brakenhoff, Ruud H., van Beusechem, Victor W., King, Randall W., de Winter, Johan P., Wolthuis, Rob M. F.
出版年 Nat Commun (2015)

Identification of the Fanconi Anemia Complementation Group I Gene, FANCI

著者: Dorsman, Josephine C., Levitus, Marieke, Rockx, Davy, Rooimans, Martin A., Oostra, Anneke B., Haitjema, Anneke, Bakker, Sietske T., Steltenpool, Jûrgen, Schuler, Dezsö, Mohan, Sheila, Schindler, Detlev, Arwert, Fré, Pals, Gerard, Mathew, Christopher G., Waisfisz, Quinten, de Winter, Johan P., Joenje, Hans
出版年 Cell Oncol (2007)

Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M

著者: Singh, Thiyam Ramsing, Bakker, Sietske T., Agarwal, Sheba, Jansen, Michael, Grassman, Elke, Godthelp, Barbara C., Ali, Abdullah Mahmood, Du, Chang-hu, Rooimans, Martin A., Fan, Qiang, Wahengbam, Kebola, Steltenpool, Jurgen, Andreassen, Paul R., Williams, David A., Joenje, Hans, de Winter, Johan P., Meetei, Amom Ruhikanta
出版事項 2009

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

著者: de Winter, Johan P., Léveillé, France, van Berkel, Carola G. M., Rooimans, Martin A., van der Weel, Laura, Steltenpool, Jurgen, Demuth, Ilja, Morgan, Neil V., Alon, Noa, Bosnoyan-Collins, Lucine, Lightfoot, Jeff, Leegwater, Peter A., Waisfisz, Quinten, Komatsu, Kenshi, Arwert, Fré, Pronk, Jan C., Mathew, Christopher G., Digweed, Martin, Buchwald, Manuel, Joenje, Hans
出版事項 2000

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

著者: Apelt, Katja, White, Susan M., Kim, Hyun Suk, Yeo, Jung-Eun, Kragten, Angela, Wondergem, Annelotte P., Rooimans, Martin A., González-Prieto, Román, Wiegant, Wouter W., Lunke, Sebastian, Flanagan, Daniel, Pantaleo, Sarah, Quinlan, Catherine, Hardikar, Winita, van Attikum, Haico, Vertegaal, Alfred C.O., Wilson, Brian T., Wolthuis, Rob M.F., Schärer, Orlando D., Luijsterburg, Martijn S.
出版年 J Exp Med (2020)

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

著者: van Schie, Janne J. M., Faramarz, Atiq, Balk, Jesper A., Stewart, Grant S., Cantelli, Erika, Oostra, Anneke B., Rooimans, Martin A., Parish, Joanna L., de Almeida Estéves, Cynthia, Dumic, Katja, Barisic, Ingeborg, Diderich, Karin E. M., van Slegtenhorst, Marjon A., Mahtab, Mohammad, Pisani, Francesca M., te Riele, Hein, Ameziane, Najim, Wolthuis, Rob M. F., de Lange, Job
出版年 Nat Commun (2020)

Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells

著者: Glykofridis, Iris E, Knol, Jaco C, Balk, Jesper A, Westland, Denise, Pham, Thang V, Piersma, Sander R, Lougheed, Sinéad M, Derakhshan, Sepide, Veen, Puck, Rooimans, Martin A, van Mil, Saskia E, Böttger, Franziska, Poddighe, Pino J, van de Beek, Irma, Drost, Jarno, Zwartkruis, Fried JT, de Menezes, Renee X, Meijers-Heijboer, Hanne EJ, Houweling, Arjan C, Jimenez, Connie R, Wolthuis, Rob MF
出版年 eLife (2021)

Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption

著者: Meyer, Stefan, Stevens, Adam, Paredes, Roberto, Schneider, Marion, Walker, Michael J, Williamson, Andrew J K, Gonzalez-Sanchez, Maria-Belen, Smetsers, Stephanie, Dalal, Vineet, Teng, Hsiang Ying, White, Daniel J, Taylor, Sam, Muter, Joanne, Pierce, Andrew, de Leonibus, Chiara, Rockx, Davy A P, Rooimans, Martin A, Spooncer, Elaine, Stauffer, Stacey, Biswas, Kajal, Godthelp, Barbara, Dorsman, Josephine, Clayton, Peter E, Sharan, Shyam K, Whetton, Anthony D
出版年 Cell Death Dis (2017)

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

著者: Ameziane, Najim, May, Patrick, Haitjema, Anneke, van de Vrugt, Henri J., van Rossum-Fikkert, Sari E., Ristic, Dejan, Williams, Gareth J., Balk, Jesper, Rockx, Davy, Li, Hong, Rooimans, Martin A., Oostra, Anneke B., Velleuer, Eunike, Dietrich, Ralf, Bleijerveld, Onno B., Maarten Altelaar, A. F., Meijers-Heijboer, Hanne, Joenje, Hans, Glusman, Gustavo, Roach, Jared, Hood, Leroy, Galas, David, Wyman, Claire, Balling, Rudi, den Dunnen, Johan, de Winter, Johan P., Kanaar, Roland, Gelinas, Richard, Dorsman, Josephine C.
出版年 Nat Commun (2015)