Search Results - "ROOIMANS, Martin A"

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype by Schindler, Detlev, Rouse, John, de Winter, Johan P, Stoepker, Chantal, Hain, Karolina, Schuster, Beatrice, Hilhorst-Hofstee, Yvonne, Rooimans, Martin A, Steltenpool, Jurgen, Oostra, Anneke B, Eirich, Katharina, Korthof, Elisabeth T, Nieuwint, Aggie W M, Jaspers, Nicolaas G J, Bettecken, Thomas, Joenje, Hans

“…DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which…”
Get full text

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

“…In a process linked to DNA replication, duplicated chromosomes are entrapped in large, circular cohesin complexes and functional sister chromatid cohesion…”
Get full text

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

“…Warsaw Breakage Syndrome (WABS) is a rare disorder related to cohesinopathies and Fanconi anemia, caused by bi-allelic mutations in DDX11 . Here, we report…”
Get full text

CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin by van Schie, Janne J M, de Lint, Klaas, Molenaar, Thom M, Moronta Gines, Macarena, Balk, Jesper A, Rooimans, Martin A, Roohollahi, Khashayar, Pai, Govind M, Borghuis, Lauri, Ramadhin, Anisha R, Corazza, Francesco, Dorsman, Josephine C, Wendt, Kerstin S, Wolthuis, Rob M F, de Lange, Job

“…Abstract The cohesin complex regulates higher order chromosome architecture through maintaining sister chromatid cohesion and folding chromatin by DNA loop…”
Get full text

BIRC2–BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia by Roohollahi, Khashayar, de Jong, Yvonne, Pai, Govind, Zaini, Mohamad Amr, de Lint, Klaas, Sie, Daoud, Rooimans, Martin A., Rockx, Davy, Hoskins, Elizabeth E., Ameziane, Najim, Wolthuis, Rob, Joenje, Hans, Wells, Susanne I., Dorsman, Josephine

“…Head-and-neck squamous cell carcinomas (HNSCCs) are relatively common in patients with Fanconi anemia (FA), a hereditary chromosomal instability disorder…”
Get full text

Publisher Correction: BIRC2–BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia by Roohollahi, Khashayar, de Jong, Yvonne, Pai, Govind, Zaini, Mohamad Amr, de Lint, Klaas, Sie, Daoud, Rooimans, Martin A., Rockx, Davy, Hoskins, Elizabeth E., Ameziane, Najim, Wolthuis, Rob, Joenje, Hans, Wells, Susanne I., Dorsman, Josephine

Get full text

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

“…Head and neck squamous cell carcinomas (HNSCCs) coincide with poor survival rates. The lack of driver oncogenes complicates the development of targeted…”
Get full text

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J by Wiegant, Wouter W, De Winter, Johan P, Rooimans, Martin A, Waisfisz, Quinten, Pals, Gerard, Hiom, Kevin, Elghalbzouri-Maghrani, Elhaam, Levitus, Marieke, Joenje, Hans, Vries, Yne de, Hussain, Shobbir, Zdzienicka, Ma gorzata Z, Steltenpool, Jûrgen, Godthelp, Barbara C, Mathew, Christopher G, Arwert, Fré

“…The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia…”
Get full text

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

“…FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we…”
Get full text

MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC by van Schie, Janne Jm, de Lint, Klaas, Pai, Govind M, Rooimans, Martin A, Wolthuis, Rob Mf, de Lange, Job

“…The leading strand-oriented alternative PCNA clamp loader DSCC1-RFC functions in DNA replication, repair, and sister chromatid cohesion (SCC), but how it…”
Get full text

DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity by Stoepker, Chantal, Faramarz, Atiq, Rooimans, Martin A., van Mil, Saskia E., Balk, Jesper A., Velleuer, Eunike, Ameziane, Najim, te Riele, Hein, de Winter, Johan P.

“…•FANCM- and DDX11-deficient lymphoblasts are PARP inhibitor sensitive.•Variable PARP inhibitor sensitivity in different BRCA2-deficient lymphoblasts.•RAD51…”
Get full text

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

“…Germline mutations in the Folliculin ( ) tumor suppressor gene cause Birt-Hogg-Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing carriers to…”
Get full text

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes by Levitus, Marieke, Rooimans, Martin A., Steltenpool, Jûrgen, Cool, Nicolle F.C., Oostra, Anneke B., Mathew, Christopher G., Hoatlin, Maureen E., Waisfisz, Quinten, Arwert, Fré, de Winter, Johan P., Joenje, Hans

“…Fanconi anemia (FA) is an autosomal recessive syndrome featuring diverse symptoms including progressive bone marrow failure and early occurrence of acute…”
Get full text

Evidence for subcomplexes in the Fanconi anemia pathway by 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.

“…Fanconi anemia (FA) is a genomic instability disorder, clinically characterized by congenital abnormalities, progressive bone marrow failure, and…”
Get full text

Identification of the Fanconi anemia complementation group I gene, FANCI by 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

“…To identify the gene underlying Fanconi anemia (FA) complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which…”
Get full text

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

“…Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes ( FANCA,…”
Get full text

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

“…Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental…”
Get full text

The Fanconi Anemia Gene Product FANCF Is a Flexible Adaptor Protein by Léveillé, France, Blom, Eric, Medhurst, Annette L., Bier, Patrick, Laghmani, El Houari, Johnson, Mark, Rooimans, Martin A., Sobeck, Alexandra, Waisfisz, Quinten, Arwert, Fré, Patel, K.J., Hoatlin, Maureen E., Joenje, Hans, de Winter, Johan P.

“…The Fanconi anemia (FA) protein FANCF is an essential component of a nuclear core complex that protects the genome against chromosomal instability, but the…”
Get full text

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 by Livingston, David M, de Winter, Johan P, Xia, Bing, Dorsman, Josephine C, Ameziane, Najim, de Vries, Yne, Rooimans, Martin A, Sheng, Qing, Pals, Gerard, Errami, Abdellatif, Gluckman, Eliane, Llera, Julian, Wang, Weidong, Joenje, Hans

“…The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1…”
Get full text

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

“…The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected…”
Get full text