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1.

RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health.

Feeney, Laura; Muñoz, Ivan M; Lachaud, Christophe; Toth, Rachel; Appleton, Paul L; Schindler, Detlev; Rouse, John.

Mol Cell; 66(5): 610-621.e4, 2017 Jun 01.

Artículo en Inglés | MEDLINE | ID: mdl-28575657

2.

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination.

Inano, Shojiro; Sato, Koichi; Katsuki, Yoko; Kobayashi, Wataru; Tanaka, Hiroki; Nakajima, Kazuhiro; Nakada, Shinichiro; Miyoshi, Hiroyuki; Knies, Kerstin; Takaori-Kondo, Akifumi; Schindler, Detlev; Ishiai, Masamichi; Kurumizaka, Hitoshi; Takata, Minoru.

Mol Cell; 66(5): 622-634.e8, 2017 Jun 01.

Artículo en Inglés | MEDLINE | ID: mdl-28575658

3.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Averdunk, Luisa; Huetzen, Maxim A; Moreno-Andrés, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L; Antonin, Wolfram; Jachimowicz, Ron D; von Felbert, Verena; Distelmaier, Felix.

Genet Med; 25(7): 100836, 2023 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-37013901

4.

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination.

Inano, Shojiro; Sato, Koichi; Katsuki, Yoko; Kobayashi, Wataru; Tanaka, Hiroki; Nakajima, Kazuhiro; Nakada, Shinichiro; Miyoshi, Hiroyuki; Knies, Kerstin; Takaori-Kondo, Akifumi; Schindler, Detlev; Ishiai, Masamichi; Kurumizaka, Hitoshi; Takata, Minoru.

Mol Cell; 78(1): 192, 2020 Apr 02.

Artículo en Inglés | MEDLINE | ID: mdl-32243829

5.

FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway.

Matsuzaki, Kenichiro; Borel, Valerie; Adelman, Carrie A; Schindler, Detlev; Boulton, Simon J.

Genes Dev; 29(24): 2532-46, 2015 Dec 15.

Artículo en Inglés | MEDLINE | ID: mdl-26637282

6.

RAD50 regulates mitotic progression independent of DNA repair functions.

Völkening, Lea; Vatselia, Anna; Asgedom, Girmay; Bastians, Holger; Lavin, Martin; Schindler, Detlev; Schambach, Axel; Bousset, Kristine; Dörk, Thilo.

FASEB J; 34(2): 2812-2820, 2020 02.

Artículo en Inglés | MEDLINE | ID: mdl-31908056

7.

A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.

Yan, Zhijiang; Guo, Rong; Paramasivam, Manikandan; Shen, Weiping; Ling, Chen; Fox, David; Wang, Yucai; Oostra, Anneke B; Kuehl, Julia; Lee, Duck-Yeon; Takata, Minoru; Hoatlin, Maureen E; Schindler, Detlev; Joenje, Hans; de Winter, Johan P; Li, Lei; Seidman, Michael M; Wang, Weidong.

Mol Cell; 47(1): 61-75, 2012 Jul 13.

Artículo en Inglés | MEDLINE | ID: mdl-22705371

8.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os, Nienke J H; Chessa, Luciana; Weemaes, Corry M R; van Deuren, Marcel; Fiévet, Alice; van Gaalen, Judith; Mahlaoui, Nizar; Roeleveld, Nel; Schrader, Christoph; Schindler, Detlev; Taylor, Alexander M R; Van de Warrenburg, Bart P C; Dörk, Thilo; Willemsen, Michèl A A P.

J Med Genet; 56(5): 308-316, 2019 05.

Artículo en Inglés | MEDLINE | ID: mdl-30819809

9.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Ravindran, Ethiraj; Hu, Hao; Yuzwa, Scott A; Hernandez-Miranda, Luis R; Kraemer, Nadine; Ninnemann, Olaf; Musante, Luciana; Boltshauser, Eugen; Schindler, Detlev; Hübner, Angela; Reinecker, Hans-Christian; Ropers, Hans-Hilger; Birchmeier, Carmen; Miller, Freda D; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M.

PLoS Genet; 13(4): e1006746, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-28453519

10.

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

Popp, Isabell; Punekar, Maqsood; Telford, Nick; Stivaros, Stavros; Chandler, Kate; Minnis, Meenakshi; Castleton, Anna; Higham, Claire; Hopewell, Louise; Gareth Evans, D; Raams, Anja; Theil, Arjan F; Meyer, Stefan; Schindler, Detlev.

BMC Med Genet; 19(1): 7, 2018 01 11.

Artículo en Inglés | MEDLINE | ID: mdl-29325523

11.

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.

Sathyanarayana, Vijaya; Lee, Beth; Wright, Neville B; Santos, Rui; Bonney, Denise; Wynn, Robert; Patel, Leena; Chandler, Kate; Cheesman, Ed; Schindler, Detlev; Webb, Nicholas J A; Meyer, Stefan.

Pediatr Nephrol; 33(9): 1547-1551, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29651604

12.

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.

Yan, Zhijiang; Delannoy, Mathieu; Ling, Chen; Daee, Danielle; Osman, Fekret; Muniandy, Parameswary A; Shen, Xi; Oostra, Anneke B; Du, Hansen; Steltenpool, Jurgen; Lin, Ti; Schuster, Beatrice; Décaillet, Chantal; Stasiak, Andrzej; Stasiak, Alicja Z; Stone, Stacie; Hoatlin, Maureen E; Schindler, Detlev; Woodcock, Christopher L; Joenje, Hans; Sen, Ranjan; de Winter, Johan P; Li, Lei; Seidman, Michael M; Whitby, Matthew C; Myung, Kyungjae; Constantinou, Angelos; Wang, Weidong.

Mol Cell; 37(6): 865-78, 2010 Mar 26.

Artículo en Inglés | MEDLINE | ID: mdl-20347428

13.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote, Koutaro; Chanprasert, Sirisak; Lee, Lin; Eirich, Katharina; Takemoto, Minoru; Watanabe, Aki; Koizumi, Naoko; Lessel, Davor; Mori, Takayasu; Hisama, Fuki M; Ladd, Paula D; Angle, Brad; Baris, Hagit; Cefle, Kivanc; Palanduz, Sukru; Ozturk, Sukru; Chateau, Antoinette; Deguchi, Kentaro; Easwar, T K M; Federico, Antonio; Fox, Amy; Grebe, Theresa A; Hay, Beverly; Nampoothiri, Sheela; Seiter, Karen; Streeten, Elizabeth; Piña-Aguilar, Raul E; Poke, Gemma; Poot, Martin; Posmyk, Renata; Martin, George M; Kubisch, Christian; Schindler, Detlev; Oshima, Junko.

Hum Mutat; 38(1): 7-15, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27667302

14.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Volk, Timo; Pannicke, Ulrich; Reisli, Ismail; Bulashevska, Alla; Ritter, Julia; Björkman, Andrea; Schäffer, Alejandro A; Fliegauf, Manfred; Sayar, Esra H; Salzer, Ulrich; Fisch, Paul; Pfeifer, Dietmar; Di Virgilio, Michela; Cao, Hongzhi; Yang, Fang; Zimmermann, Karin; Keles, Sevgi; Caliskaner, Zafer; Güner, S Ükrü; Schindler, Detlev; Hammarström, Lennart; Rizzi, Marta; Hummel, Michael; Pan-Hammarström, Qiang; Schwarz, Klaus; Grimbacher, Bodo.

Hum Mol Genet; 24(25): 7361-72, 2015 Dec 20.

Artículo en Inglés | MEDLINE | ID: mdl-26476407

15.

Disease and mutation: correlations coming to fruition.

Schindler, Detlev; Kalb, Reinhard.

Blood; 135(18): 1514-1515, 2020 04 30.

Artículo en Inglés | MEDLINE | ID: mdl-32353126

16.

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.

Chao, Mwe Mwe; Thomay, Kathrin; Goehring, Gudrun; Wlodarski, Marcin; Pastor, Victor; Schlegelberger, Brigitte; Schindler, Detlev; Kratz, Christian Peter; Niemeyer, Charlotte.

Klin Padiatr; 229(6): 329-334, 2017 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-29132164

17.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Bogliolo, Massimo; Schuster, Beatrice; Stoepker, Chantal; Derkunt, Burak; Su, Yan; Raams, Anja; Trujillo, Juan P; Minguillón, Jordi; Ramírez, María J; Pujol, Roser; Casado, José A; Baños, Rocío; Rio, Paula; Knies, Kerstin; Zúñiga, Sheila; Benítez, Javier; Bueren, Juan A; Jaspers, Nicolaas G J; Schärer, Orlando D; de Winter, Johan P; Schindler, Detlev; Surrallés, Jordi.

Am J Hum Genet; 92(5): 800-6, 2013 May 02.

Artículo en Inglés | MEDLINE | ID: mdl-23623386

18.

Distinct functional roles for the two SLX4 ubiquitin-binding UBZ domains mutated in Fanconi anemia.

Lachaud, Christophe; Castor, Dennis; Hain, Karolina; Muñoz, Ivan; Wilson, Jamie; MacArtney, Thomas J; Schindler, Detlev; Rouse, John.

J Cell Sci; 127(Pt 13): 2811-7, 2014 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-24794496

19.

A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.

Salaverria, Itziar; Martin-Guerrero, Idoia; Wagener, Rabea; Kreuz, Markus; Kohler, Christian W; Richter, Julia; Pienkowska-Grela, Barbara; Adam, Patrick; Burkhardt, Birgit; Claviez, Alexander; Damm-Welk, Christine; Drexler, Hans G; Hummel, Michael; Jaffe, Elaine S; Küppers, Ralf; Lefebvre, Christine; Lisfeld, Jasmin; Löffler, Markus; Macleod, Roderick A F; Nagel, Inga; Oschlies, Ilske; Rosolowski, Maciej; Russell, Robert B; Rymkiewicz, Grzegorz; Schindler, Detlev; Schlesner, Matthias; Scholtysik, René; Schwaenen, Carsten; Spang, Rainer; Szczepanowski, Monika; Trümper, Lorenz; Vater, Inga; Wessendorf, Swen; Klapper, Wolfram; Siebert, Reiner.

Blood; 123(8): 1187-98, 2014 Feb 20.

Artículo en Inglés | MEDLINE | ID: mdl-24398325

20.

A novel classification of hematologic conditions in patients with Fanconi anemia.

Behrens, Yvonne Lisa; Göhring, Gudrun; Bawadi, Randa; Cöktü, Sümeyye; Reimer, Christina; Hoffmann, Beatrice; Sänger, Birte; Käfer, Simon; Thol, Felicitas; Erlacher, Miriam; Niemeyer, Charlotte M; Baumann, Irith; Kalb, Reinhard; Schindler, Detlev; Kratz, Christian Peter.

Haematologica; 106(11): 3000-3003, 2021 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-34196171

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RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health.

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination.

FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway.

RAD50 regulates mitotic progression independent of DNA repair functions.

A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.

A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Disease and mutation: correlations coming to fruition.

Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms.

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Distinct functional roles for the two SLX4 ubiquitin-binding UBZ domains mutated in Fanconi anemia.

A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.

A novel classification of hematologic conditions in patients with Fanconi anemia.