Massimo Bogliolo

Massimo Bogliolo

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Massimo Bogliolo

Massimo Bogliolo

Publications by authors named "Massimo Bogliolo"

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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

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
Publisher Site
http://dx.doi.org/10.3390/genes10010060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357085PMC
January 2019

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

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
Publisher Site
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

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

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

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

3R coordination by Fanconi anemia proteins.

Biochimie 2005 Jul;87(7):647-58

Institut Gustave-Roussy PR2, UPR2169 du CNRS, 39, rue Camille-Desmoulins, 94805 Villejuif cedex, France.

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http://dx.doi.org/10.1016/j.biochi.2005.05.003DOI Listing
July 2005

Effect of S. cerevisiae APN1 protein on mammalian DNA base excision repair.

Anticancer Res 2003 Sep-Oct;23(5A):3727-34

DNA Repair Unit, Mutagenesis Laboratory, Istituto Nazionale Ricerca Cancro, 16132 Genova, Italy.

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February 2004

Repair of 8 oxoguanine in mammalian cells expressing the Drosophila S3 ribosomal/repair protein.

Teratog Carcinog Mutagen 2003 ;Suppl 1:113-21

DNA Repair Unit, Mutagenesis Laboratory, Istituto Nazionale Ricerca Cancro, Genova, Italy.

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http://dx.doi.org/10.1002/tcm.10067DOI Listing
September 2003

Drosophila S3 ribosomal protein accelerates repair of 8-oxoguanine performed by human and mouse cell extracts.

Environ Mol Mutagen 2003 ;42(1):50-8

DNA Repair Unit, Mutagenesis Laboratory - Istituto Nazionale Ricerca Cancro, Genova, Italy.

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http://dx.doi.org/10.1002/em.10166DOI Listing
September 2003

Effect of S. cerevisiae APN1 protein on mammalian DNA base excision repair.

Anticancer Res 2002 Sep-Oct;22(5):2797-804

DNA Repair Unit, Mutagenesis Laboratory, Istituto Nazionale Ricerca Cancro, 16132 Genova, Italy.

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February 2003

Alternative metabolic pathways for energy supply and resistance to apoptosis in Fanconi anaemia.

Mutagenesis 2002 Jan;17(1):25-30

Laboratory of Mutagenesis, National Cancer Research Institute, IST, Lgo R. Benzi 10, 16132 Genoa, Italy.

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http://dx.doi.org/10.1093/mutage/17.1.25DOI Listing
January 2002