Jordi Surralles

Jordi Surralles

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Jordi Surralles

Jordi Surralles

Publications by authors named "Jordi Surralles"

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NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia.

Cell Stem Cell 2019 Nov 19;25(5):607-621.e7. Epub 2019 Sep 19.

Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Madrid 28040, Spain; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), Madrid 28040, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2019.08.016DOI Listing
November 2019

The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Authors:
Gisella Figlioli Massimo Bogliolo Irene Catucci Laura Caleca Sandra Viz Lasheras Roser Pujol Johanna I Kiiski Taru A Muranen Daniel R Barnes Joe Dennis Kyriaki Michailidou Manjeet K Bolla Goska Leslie Cora M Aalfs Muriel A Adank Julian Adlard Simona Agata Karen Cadoo Bjarni A Agnarsson Thomas Ahearn Kristiina Aittomäki Christine B Ambrosone Lesley Andrews Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Ella Asseryanis Bernd Auber Päivi Auvinen Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Julian Barwell Laura E Beane Freeman Charles Joly Beauparlant Matthias W Beckmann Sabine Behrens Javier Benitez Raanan Berger Marina Bermisheva Amie M Blanco Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Ake Borg Angela F Brady Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Saundra S Buys Trinidad Caldés Almuth Caliebe Maria A Caligo Daniele Campa Ian G Campbell Federico Canzian Jose E Castelao Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes Christine L Clarke Anita Collavoli Thomas A Conner David G Cox Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Nina Ditsch Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Katarzyna Durda Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger William D Foulkes Tara M Friebel Eitan Friedman Marike Gabrielson Pragna Gaddam Manuela Gago-Dominguez Chi Gao Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Pascal Guénel Angelica M Gutierrez-Barrera Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle John L Hopper H Dean Hosgood Anthony Howell Chunling Hu Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Beth Y Karlan Elza Khusnutdinova Cari M Kitahara Irene Konstantopoulou Stella Koutros Peter Kraft Diether Lambrechts Conxi Lazaro Loic Le Marchand Jenny Lester Fabienne Lesueur Jenna Lilyquist Jennifer T Loud Karen H Lu Robert N Luben Jan Lubinski Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Tabea Maurer Dimitrios Mavroudis Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Marco Montagna Katherine L Nathanson Susan L Neuhausen William G Newman Tu Nguyen-Dumont Finn Cilius Nielsen Sarah Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Ana Osorio Laura Ottini Bernard Peissel Ana Peixoto Julian Peto Dijana Plaseska-Karanfilska Timea Pocza Nadege Presneau Miquel Angel Pujana Kevin Punie Brigitte Rack Johanna Rantala Muhammad U Rashid Rohini Rau-Murthy Gad Rennert Flavio Lejbkowicz Valerie Rhenius Atocha Romero Matti A Rookus Eric A Ross Maria Rossing Vilius Rudaitis Matthias Ruebner Emmanouil Saloustros Kristin Sanden Marta Santamariña Maren T Scheuner Rita K Schmutzler Michael Schneider Christopher Scott Leigha Senter Mitul Shah Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Linda Steele Dominique Stoppa-Lyonnet William J Tapper Manuel R Teixeira Mary Beth Terry Mads Thomassen Jennifer Thompson Darcy L Thull Marc Tischkowitz Rob A E M Tollenaar Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Elizabeth J van Rensburg Elke M van Veen Ana Vega Alessandra Viel Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Greet Wieme Alicja Wolk Xiaohong R Yang Wei Zheng Argyrios Ziogas Kristin K Zorn Alison M Dunning Michael Lush Qin Wang Lesley McGuffog Michael T Parsons Paul D P Pharoah Florentia Fostira Amanda E Toland Irene L Andrulis Susan J Ramus Anthony J Swerdlow Mark H Greene Wendy K Chung Roger L Milne Georgia Chenevix-Trench Thilo Dörk Marjanka K Schmidt Douglas F Easton Paolo Radice Eric Hahnen Antonis C Antoniou Fergus J Couch Heli Nevanlinna Jordi Surrallés Paolo Peterlongo

NPJ Breast Cancer 2019 1;5:38. Epub 2019 Nov 1.

IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.

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http://dx.doi.org/10.1038/s41523-019-0127-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825205PMC
November 2019

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

J Med Genet 2019 Oct 5. Epub 2019 Oct 5.

Department of Genetics, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2019-106249DOI Listing
October 2019

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

Mol Genet Genomic Med 2019 Sep 25;7(9):e863. Epub 2019 Jul 25.

Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany, University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732317PMC
September 2019

Limited detection of human polyomaviruses in Fanconi anemia related squamous cell carcinoma.

PLoS One 2018 27;13(12):e0209235. Epub 2018 Dec 27.

Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209235PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307729PMC
May 2019

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.

Genet Med 2019 01 14;21(1):189-194. Epub 2018 Jun 14.

Genetics Department and Biomedical Research Institute, Hospital de Sant Pau, Center for Biomedical Research on Rare Diseases (CIBERER), and Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41436-018-0037-1DOI Listing
January 2019

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.

Genes (Basel) 2019 01 17;10(1). Epub 2019 Jan 17.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08028 Barcelona, Spain.

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http://www.mdpi.com/2073-4425/10/1/60
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http://dx.doi.org/10.3390/genes10010060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357085PMC
January 2019

In Memory of Professor Adayapalam T Natarajan.

Mutat Res Genet Toxicol Environ Mutagen 2018 Dec 7;836(Pt A):1-2. Epub 2018 May 7.

Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13835718183015
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http://dx.doi.org/10.1016/j.mrgentox.2018.04.008DOI Listing
December 2018

Therapeutic research in the crystal chromosome disease Fanconi anemia.

Mutat Res Genet Toxicol Environ Mutagen 2018 Dec 7;836(Pt A):104-108. Epub 2018 May 7.

Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain; Genetics Department and Biomedical Research Institute Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, 08193 Bellaterra, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mrgentox.2018.05.012DOI Listing
December 2018

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.

Genet Med 2018 04 24;20(4):458-463. Epub 2017 Aug 24.

Department of Genetics and Microbiology, Genetics Department of Hospital de les Santes Creus i Sant Pau, Universitat Autònoma de Barcelona, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1038/gim.2017.124DOI Listing
April 2018

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia.

J Clin Invest 2017 Aug 10;127(8):3013-3027. Epub 2017 Jul 10.

Department of Human Genetics, Biozentrum, University of Wurzburg, Wurzburg, Germany.

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http://dx.doi.org/10.1172/JCI92069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531404PMC
August 2017

Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.

PLoS One 2015 14;10(10):e0139740. Epub 2015 Oct 14.

Unidade de Investigação em Patobiologia Molecular, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisboa, Portugal; CEDOC, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139740PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605638PMC
June 2016

Dyslipidemia and chronic inflammation markers are correlated with telomere length shortening in Cushing's syndrome.

PLoS One 2015 23;10(3):e0120185. Epub 2015 Mar 23.

Sant Pau Biomedical Research Institute, Endocrinology/Medicine Departments, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER Unit 747), ISCIII, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120185PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370384PMC
December 2015

Savior siblings and Fanconi anemia: analysis of success rates from the family's perspective.

Genet Med 2015 Nov 12;17(11):935-8. Epub 2015 Feb 12.

Department of Genetics and Microbiology, Genome Instability and DNA Repair Group, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1038/gim.2014.206DOI Listing
November 2015

Activation of the Fanconi anemia/BRCA pathway at low doses of ionization radiation.

Mutat Res Genet Toxicol Environ Mutagen 2015 Nov 17;793:9-13. Epub 2015 Jun 17.

Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain. Electronic address:

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http://cancerres.aacrjournals.org/content/66/23/11140.full.p
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http://linkinghub.elsevier.com/retrieve/pii/S138357181500150
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http://dx.doi.org/10.1016/j.mrgentox.2015.06.010DOI Listing
November 2015

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 2015

Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics.

Curr Opin Genet Dev 2015 Aug 6;33:32-40. Epub 2015 Aug 6.

Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2015.07.002DOI Listing
August 2015

Telomere length analysis in Cushing's syndrome.

Eur J Endocrinol 2014 Jul 17;171(1):21-9. Epub 2014 Apr 17.

Endocrinology/Medicine DepartmentsSant Pau Biomedical Research Institute, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Servei d'Endocrinologia, C/Sant Antoni Maria Claret, 167, 08025 Barcelona, SpainDepartment of Genetics and MicrobiologyCenter for Biomedical Network Research on Rare Diseases (CIBERER Unit 745), Universitat Autònoma de Barcelona, Bellaterra, Barcelona, SpainEndocrinology DepartmentHospital Universitari Mutua Terrassa, Terrassa, Barcelona, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER Unit 747)ISCIII, Hospital de Sant Pau, Barcelona, SpainEndocrinology DepartmentCenter for Biomedical Network Research on Bioenginnering, Biomaterials and Nanomedicine (CIBER-BBN), Hospital de Sant Pau, Barcelona, SpainEndocrinology/Medicine DepartmentsSant Pau Biomedical Research Institute, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Servei d'Endocrinologia, C/Sant Antoni Maria Claret, 167, 08025 Barcelona, SpainDepartment of Genetics and MicrobiologyCenter for Biomedical Network Research on Rare Diseases (CIBERER Unit 745), Universitat Autònoma de Barcelona, Bellaterra, Barcelona, SpainEndocrinology DepartmentHospital Universitari Mutua Terrassa, Terrassa, Barcelona, SpainCenter for Biomedical Network Research on Rare Diseases (CIBERER Unit 747)ISCIII, Hospital de Sant Pau, Barcelona, SpainEndocrinology DepartmentCenter for Biomedical Network Research on Bioenginnering, Biomaterials and Nanomedicine (CIBER-BBN), Hospital de Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1530/EJE-14-0098DOI Listing
July 2014

Targeted gene therapy and cell reprogramming in Fanconi anemia.

EMBO Mol Med 2014 Jun 6;6(6):835-48. Epub 2014 Apr 6.

Division of Hematopoietic Innovative Therapies, CIEMAT/CIBERER, Madrid, Spain Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid, Spain

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http://dx.doi.org/10.15252/emmm.201303374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203359PMC
June 2014

Telomeres and endocrine dysfunction of the adrenal and GH/IGF-1 axes.

Clin Endocrinol (Oxf) 2013 Dec 4;79(6):751-9. Epub 2013 Sep 4.

Biomedical Research Institute Sant Pau (IIB Sant Pau), Endocrinology/Medicine Departments, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/cen.12310DOI Listing
December 2013

On the role of FAN1 in Fanconi anemia.

Blood 2012 Jul 18;120(1):86-9. Epub 2012 May 18.

Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1182/blood-2012-04-420604DOI Listing
July 2012

Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage.

DNA Repair (Amst) 2011 May 5;10(5):518-25. Epub 2011 Apr 5.

Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Spain.

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http://dx.doi.org/10.1016/j.dnarep.2011.02.007DOI Listing
May 2011

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.

J Med Genet 2011 Apr 7;48(4):242-50. Epub 2011 Jan 7.

Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, and Pediatric Haemato-Oncology Service, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1136/jmg.2010.084210DOI Listing
April 2011

Exploring the link between MORF4L1 and risk of breast cancer.

Authors:
Griselda Martrat Christopher M Maxwell Emiko Tominaga Montserrat Porta-de-la-Riva Núria Bonifaci Laia Gómez-Baldó Massimo Bogliolo Conxi Lázaro Ignacio Blanco Joan Brunet Helena Aguilar Juana Fernández-Rodríguez Sheila Seal Anthony Renwick Nazneen Rahman Julia Kühl Kornelia Neveling Detlev Schindler María J Ramírez María Castellà Gonzalo Hernández Douglas F Easton Susan Peock Margaret Cook Clare T Oliver Debra Frost Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Carol Chu Rosemarie Davidson Kai-Ren Ong Jackie Cook Fiona Douglas Shirley Hodgson Carole Brewer Patrick J Morrison Mary Porteous Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Gaia Roversi Monica Barile Alessandra Viel Barbara Pasini Laura Ottini Anna Laura Putignano Antonella Savarese Loris Bernard Paolo Radice Sue Healey Amanda Spurdle Xiaoqing Chen Jonathan Beesley Matti A Rookus Senno Verhoef Madeleine A Tilanus-Linthorst Maaike P Vreeswijk Christi J Asperen Danielle Bodmer Margreet G E M Ausems Theo A van Os Marinus J Blok Hanne E J Meijers-Heijboer Frans B L Hogervorst David E Goldgar Saundra Buys Esther M John Alexander Miron Melissa Southey Mary B Daly Katja Harbst Ake Borg Johanna Rantala Gisela Barbany-Bustinza Hans Ehrencrona Marie Stenmark-Askmalm Bella Kaufman Yael Laitman Roni Milgrom Eitan Friedman Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Oskar Thor Johannsson Fergus J Couch Xianshu Wang Zachary Fredericksen Daniel Cuadras Víctor Moreno Friederike K Pientka Reinhard Depping Trinidad Caldés Ana Osorio Javier Benítez Juan Bueren Tuomas Heikkinen Heli Nevanlinna Ute Hamann Diana Torres Maria Adelaide Caligo Andrew K Godwin Evgeny N Imyanitov Ramunas Janavicius Olga M Sinilnikova Dominique Stoppa-Lyonnet Sylvie Mazoyer Carole Verny-Pierre Laurent Castera Antoine de Pauw Yves-Jean Bignon Nancy Uhrhammer Jean-Philippe Peyrat Philippe Vennin Sandra Fert Ferrer Marie-Agnès Collonge-Rame Isabelle Mortemousque Lesley McGuffog Georgia Chenevix-Trench Olivia M Pereira-Smith Antonis C Antoniou Julián Cerón Kaoru Tominaga Jordi Surrallés Miguel Angel Pujana

Breast Cancer Res 2011 Apr 5;13(2):R40. Epub 2011 Apr 5.

Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research (IDIBELL), Gran Via 199, L'Hospitalet del Llobregat 08908, Spain.

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http://dx.doi.org/10.1186/bcr2862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219203PMC
April 2011

Fanconi anemia protein FANCD2 inhibits TRF1 polyADP-ribosylation through tankyrase1-dependent manner.

Genome Integr 2011 Feb 12;2(1). Epub 2011 Feb 12.

Department of Genetics and Microbiology, Universitat Autonoma de Barcelona, Edifici C, Bellaterra, Barcelona 08193, Spain.

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http://dx.doi.org/10.1186/2041-9414-2-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048478PMC
February 2011

Constitutive activation of caspase-3 and Poly ADP ribose polymerase cleavage in fanconi anemia cells.

Mol Cancer Res 2010 Jan 12;8(1):46-56. Epub 2010 Jan 12.

Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1158/1541-7786.MCR-09-0373DOI Listing
January 2010

Quick two-dimensional differential in gel electrophoresis-based method to determine length and secondary structures of telomeric DNA.

Anal Biochem 2009 Jan 5;384(2):356-8. Epub 2008 Oct 5.

Department of Genetics and Microbiology, Universitad Autonoma de Barcelona, Edifici C UAB Campus, Bellaterra 08193, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S000326970800660
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http://dx.doi.org/10.1016/j.ab.2008.09.046DOI Listing
January 2009

In vivo proliferation advantage of genetically corrected hematopoietic stem cells in a mouse model of Fanconi anemia FA-D1.

Blood 2008 Dec 23;112(13):4853-61. Epub 2008 Sep 23.

Hematopoiesis and Gene Therapy Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://dx.doi.org/10.1182/blood-2008-05-156356DOI Listing
December 2008

Role of the Met(287)Thr polymorphism in the AS3MT gene on the metabolic arsenic profile.

Mutat Res 2008 Jan 22;637(1-2):80-92. Epub 2007 Jul 22.

Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, Spain.

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http://dx.doi.org/10.1016/j.mrfmmm.2007.07.004DOI Listing
January 2008

FANCD2 depletion sensitizes cancer cells repopulation ability in vitro.

Cancer Lett 2007 Oct 23;256(2):186-95. Epub 2007 Jul 23.

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.canlet.2007.06.006DOI Listing
October 2007

A DIGE-based approach to study interacting proteins.

J Biochem Biophys Methods 2007 Jun 14;70(4):693-5. Epub 2007 Mar 14.

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat, Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jbbm.2007.03.002DOI Listing
June 2007

New roads to FA/BRCA pathway: H2AX.

Cell Cycle 2007 May 1;6(9):1019-23. Epub 2007 May 1.

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.4161/cc.6.9.4223DOI Listing
May 2007

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability.

EMBO J 2007 Mar 15;26(5):1340-51. Epub 2007 Feb 15.

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1038/sj.emboj.7601574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1817623PMC
March 2007

Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1.

Mol Ther 2006 Oct 20;14(4):525-35. Epub 2006 Jul 20.

Hematopoiesis and Gene Therapy Division, CIEMAT/Marcelino Botín Foundation, Avenida Complutense No. 22, 28040 Madrid, Spain.

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http://dx.doi.org/10.1016/j.ymthe.2006.05.018DOI Listing
October 2006

Basal and induced micronucleus frequencies in human lymphocytes with different GST and NAT2 genetic backgrounds.

Mutat Res 2006 Jul 18;606(1-2):12-20. Epub 2006 Apr 18.

Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, Spain.

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http://dx.doi.org/10.1016/j.mrgentox.2006.02.002DOI Listing
July 2006

Disruption of the Fanconi anemia/BRCA pathway in sporadic cancer.

Cancer Lett 2006 Jan 21;232(1):99-106. Epub 2005 Oct 21.

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.canlet.2005.07.038DOI Listing
January 2006

Telomere dysfunction in genome instability syndromes.

Mutat Res 2004 Sep;567(1):85-104

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autónoma de Barcelona, 08193 Bellaterra, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S13835742040003
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http://dx.doi.org/10.1016/j.mrrev.2004.06.003DOI Listing
September 2004

Molecular cross-talk among chromosome fragility syndromes.

Genes Dev 2004 Jun;18(12):1359-70

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autonòma de Barcelona, 08193-Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1101/gad.1216304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC423188PMC
June 2004

Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.

Nucleic Acids Res 2003 Dec;31(23):6733-40

Grup de Mutagènesi, Unitat de Genètica, Departament de Genètica i de Microbiologia, Edifici Cn, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC290266PMC
http://dx.doi.org/10.1093/nar/gkg898DOI Listing
December 2003

Molecular cloning of the Drosophila Fanconi anaemia gene FANCD2 cDNA.

DNA Repair (Amst) 2003 Jun;2(6):751-8

Group of Mutagenesis, Department of Genetics and Microbiology, Campus de Bellaterra s/n, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1016/s1568-7864(03)00046-6DOI Listing
June 2003

Glutathione S-transferase polymorphisms in thyroid cancer patients.

Cancer Lett 2003 Feb;190(1):37-44

Grup de Mutagènesi, Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, Bellaterra, Spain.

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http://dx.doi.org/10.1016/s0304-3835(02)00580-3DOI Listing
February 2003

Clusters of transcription-coupled repair in the human genome.

Proc Natl Acad Sci U S A 2002 Aug 25;99(16):10571-4. Epub 2002 Jul 25.

Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1073/pnas.162278199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC124978PMC
August 2002

Relationship between chromosome fragility, aneuploidy and severity of the haematological disease in Fanconi anaemia.

Mutat Res 2002 Jul;504(1-2):75-83

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1016/s0027-5107(02)00081-7DOI Listing
July 2002

Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia.

Hum Mol Genet 2002 Feb;11(4):439-44

Group of Mutagenesis, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1093/hmg/11.4.439DOI Listing
February 2002