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1.
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48 p, 12.9 MB |
MAF amplification licenses ERα through epigenetic remodelling to drive breast cancer metastasis
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Llorente, Alicia (Centro de Investigación Biomédica en Red de Cáncer) ;
Blasco, María Teresa (Centro de Investigación Biomédica en Red de Cáncer) ;
Espuny, Irene (Cancer Science Program. Institute for Research in Biomedicine (IRB Barcelona)) ;
Guiu, Marc (Cancer Science Program. Institute for Research in Biomedicine (IRB Barcelona)) ;
Ballaré, Cecilia (Centre for Genomic Regulation (CRG). Barcelona Institute of Science and Technology (BIST)) ;
Blanco, Enrique (Centre for Genomic Regulation (CRG)) ;
Caballé, Adrià (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Bellmunt, Anna (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Salvador, Fernando (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Morales, Andrea (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Nuñez, Marc (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Loren, Guillem (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Imbastari, Francesca (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Fidalgo, Marta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Figueras-Puig, Cristina (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Gibler, Patrizia (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Graupera, Mariona (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Monteiro, Freddy (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Riera, Antoni (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Holen, Ingunn (University of Sheffield) ;
Avgustinova, Alexandra (Institut de Recerca Sant Joan de Déu) ;
Di Croce, Luciano (Universitat Pompeu Fabra) ;
Gomis, Roger R. (Universitat de Barcelona)
MAF amplification increases the risk of breast cancer (BCa) metastasis through mechanisms that are still poorly understood yet have important clinical implications. Oestrogen-receptor-positive (ER) BCa requires oestrogen for both growth and metastasis, albeit by ill-known mechanisms. [...]
2023 -  10.1038/s41556-023-01281-y
Nature Cell Biology, Vol. 25 Núm. 12 (december 2023) , p. 1833-1847
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2.
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10 p, 2.7 MB |
New genetic drivers in hemorrhagic hereditary telangiectasia
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Cerdà, Pau (Institut d'Investigació Biomèdica de Bellvitge) ;
Castillo, Sandra D. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Aguilera, Cinthia (Institut d'Investigació Biomèdica de Bellvitge) ;
Iriarte, Adriana (Institut d'Investigació Biomèdica de Bellvitge) ;
Rocamora, José Luis (Institut d'Investigació Biomèdica de Bellvitge) ;
Larrinaga, Ane M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Viñals, Francesc (Institut d'Investigació Biomèdica de Bellvitge) ;
Graupera, Mariona (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Riera Mestre, Antoni (Institut d'Investigació Biomèdica de Bellvitge)
Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in around 90% of the patients; also 2% of patients harbor pathogenic variants at SMAD4 and GDF2. [...]
2024 - 10.1016/j.ejim.2023.08.024
European Journal of Internal Medicine, Vol. 119 (january 2024) , p. 99-108
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3.
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6 p, 810.3 KB |
Translational medicine in hereditary hemorrhagic telangiectasia
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Riera Mestre, Antoni (Institut d'Investigació Biomèdica de Bellvitge) ;
Cerdà, Pau (Institut d'Investigació Biomèdica de Bellvitge) ;
Iriarte, Adriana (Institut d'Investigació Biomèdica de Bellvitge) ;
Graupera, Mariona (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Viñals, Francesc (Institut d'Investigació Biomèdica de Bellvitge)
Scientific community have gained lots of new insights in the genetic and biochemical background of different conditions, rare diseases included, settling the basis for preclinical models that are helping to identify new biomarkers and therapeutic targets. [...]
2022 - 10.1016/j.ejim.2021.09.003
European Journal of Internal Medicine, Vol. 95 (january 2022) , p. 32-37
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4.
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10 p, 5.1 MB |
Regioselective Ring-Opening of Oxetanes Catalyzed by Lewis Superacid Al(C6F5)3
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Bellido, Marina (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Riego-Mejías, Carlos (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Sciortino, Giuseppe (Universitat Autònoma de Barcelona. Departament de Química) ;
Verdaguer, Xavier (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Lledós, Agustí (Universitat Autònoma de Barcelona. Departament de Química) ;
Riera, Antoni (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica)
This study details an aluminum-catalyzed regioselective isomerization of 2,2-disubstituted oxetanes to yield homoallylic alcohols. The reaction takes place in toluene at 40 °C, employing 1 mol % of Al(C6F5)3 as catalyst. [...]
2024 - 10.1002/adsc.202301183
Advanced synthesis & catalysis, (January 2024)
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5.
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15 p, 1.2 MB |
A systematic review of the validated monogenic causes of human male infertility : 2020 update and a discussion of emerging gene-disease relationships
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Houston, Brendan J. (School of BioSciences and Bio21 Institute. The University of Melbourne) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Wyrwoll, Margot J. (Institute of Reproductive Genetics. University of Münster) ;
Salas-Huetos, Albert (Department of Nutrition. Harvard T.H. Chan School of Public Health. Harvard University) ;
Xavier, Miguel J. (Faculty of Medical Sciences. Biosciences Institute. Newcastle University) ;
Nagirnaja, Liina (Genetics of Male Infertility Initiative (GEMINI)) ;
Friedrich, Corinna (Institute of Reproductive Genetics. University of Münster) ;
Conrad, Donald F. (International Male Infertility Genomics Consortium (IMIGC)) ;
Aston, Kenneth I. (International Male Infertility Genomics Consortium (IMIGC)) ;
Krausz, Csilla (University of Florence) ;
Tüttelmann, Frank (International Male Infertility Genomics Consortium (IMIGC)) ;
O'bryan, Moira K. (International Male Infertility Genomics Consortium (IMIGC)) ;
Veltman, Joris A. (International Male Infertility Genomics Consortium (IMIGC)) ;
Oud, Manon S. (Department of Human Genetics. Donders Institute for Brain. Cognition and Behaviour. Radboudumc) ;
Universitat Autònoma de Barcelona
Background: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. [...]
2022 - 10.1093/humupd/dmab030
Human Reproduction Update, Vol. 28 Núm. 1 (january 2022) , p. 15-29
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6.
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18 p, 4.7 MB |
Diverse monogenic subforms of human spermatogenic failure
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Nagirnaja, Liina (Oregon Health & Science University) ;
Lopes, Alexandra M. (IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto) ;
Charng, Wu-Lin (Washington University) ;
Miller, Brian (Oregon Health & Science University) ;
Stakaitis, Rytis (Lithuanian University of Health Sciences) ;
Golubickaite, Ieva (Lithuanian University of Health Sciences) ;
Stendahl, Alexandra (Oregon Health & Science University) ;
Luan, Tianpengcheng (The University of Melbourne) ;
Friedrich, Corinna (University of Münster) ;
Mahyari, Eisa (Oregon Health & Science University) ;
Fadial, Eloise (Oregon Health & Science University) ;
Kasak, Laura (University of Tartu) ;
Vigh-Conrad, Katinka (Oregon Health & Science University) ;
Oud, Manon S. (Radboud University Medical Centre) ;
Xavier, Miguel (Newcastle University) ;
Cheers, Samuel R. (The University of Melbourne) ;
James, Emma R. (University of Utah School of Medicine) ;
Guo, Jingtao (University of Utah School of Medicine) ;
Jenkins, Timothy G. (University of Utah School of Medicine) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Barros, Alberto (Faculdade de Medicina da Universidade do Porto) ;
Carvalho, Filipa (Faculdade de Medicina da Universidade do Porto) ;
Fernandes, Susana (Faculdade de Medicina da Universidade do Porto) ;
Gonçalves, João (Nova Medical School) ;
Gurnett, Christina A. (Washington University.) ;
Jørgensen, Niels (Copenhagen University Hospital - Rigshospitalet) ;
Jezek, Davor (University of Zagreb School of Medicine) ;
Jungheim, Emily S. (Division of Reproductive Endocrinology) ;
Kliesch, Sabine (University Hospital of Münster (Alemanya)) ;
McLachlan, Robert I. (Monash University) ;
Omurtag, Kenan R. (Division of Reproductive Endocrinology) ;
Pilatz, Adrian (Justus Liebig University) ;
Sandlow, Jay I. (Medical College of Wisconsin) ;
Smith, James (University California San Francisco) ;
Eisenberg, Michael L. (Stanford University School of Medicine) ;
Hotaling, James M. (University of Utah School of Medicine) ;
Jarvi, Keith A. (University of Toronto) ;
Punab, Margus (University of Tartu) ;
Rajpert-De Meyts, Ewa (Copenhagen University Hospital - Rigshospitalet) ;
Carrell, Douglas T. (University of Utah School of Medicine) ;
Krausz, Csilla (University of Florence) ;
Laan, Maris (University of Tartu) ;
O'Bryan, Moira Kathleen (Monash University) ;
Schlegel, Peter N. (Weill Cornell Medicine) ;
Tüttelmann, Frank (University of Münster) ;
Veltman, Joris A. (Newcastle University) ;
Almstrup, Kristian (Copenhagen University Hospital - Rigshospitalet) ;
Aston, Kenneth I. (University of Utah School of Medicine) ;
Conrad, Donald F. (Oregon Health & Science University) ;
Universitat Autònoma de Barcelona
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. [...]
2022 - 10.1038/s41467-022-35661-z
Nature communications, Vol. 13 (december 2022)
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7.
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19 p, 4.9 MB |
Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer
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Chan, Donovan (Research Institute of the McGill University Health Centre) ;
Oros Klein, Kathleen (Jewish General Hospital) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Krausz, Csilla (University of Florence) ;
O'Flaherty, Cristian (McGill University) ;
Chan, Peter (McGill University) ;
Robaire, Bernard (McGill University) ;
Trasler, Jacquetta M. (McGill University) ;
Universitat Autònoma de Barcelona
Combination chemotherapy has contributed to increased survival from Hodgkin disease (HD) and testicular cancer (TC). However, questions concerning the quality of spermatozoa after treatment have arisen. [...]
2023 - 10.1186/s13148-022-01417-1
Clinical Epigenetics, Vol. 15 (january 2023)
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8.
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9 p, 791.0 KB |
Catalytic regioselective isomerization of 2,2-disubstituted oxetanes to homoallylic alcohols
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Cabré, Albert (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Rafael, Sergi (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Sciortino, Giuseppe (Universitat Autònoma de Barcelona. Departament de Química) ;
Ujaque Pérez, Gregori (Universitat Autònoma de Barcelona. Departament de Química) ;
Verdaguer, Xavier (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Lledós, Agustí (Universitat Autònoma de Barcelona. Departament de Química) ;
Riera, Antoni (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica)
The selective isomerization of strained heterocyclic compounds is an important tool in organic synthesis. An unprecedented regioselective isomerization of 2,2-disubstituted oxetanes into homoallylic alcohols is described. [...]
2020 - 10.1002/anie.201915772
Angewandte Chemie (International ed. Internet), Vol. 59, issue 19 (May 2020) , p. 7521-7527
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9.
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6 p, 433.9 KB |
Iridium-catalyzed isomerization of N-sulfonyl aziridines to allyl amines
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Cabré, Albert (Institut de Recerca Biomèdica) ;
Sciortino, Giuseppe (Universitat Autònoma de Barcelona. Departament de Química) ;
Ujaque Pérez, Gregori (Universitat Autònoma de Barcelona. Departament de Química) ;
Verdaguer, Xavier (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Lledós, Agustí (Universitat Autònoma de Barcelona. Departament de Química) ;
Riera, Antoni (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica)
The Crabtree's reagent catalyzes the isomerization of N-sulfonyl 2,2-disubstituted aziridines to allyl amines. The selectivity of allyl amine vs imine is very high (up to 99/1). The unprecedented isomerization takes place in mild conditions without activation of the catalyst by hydrogen. [...]
2018 - 10.1021/acs.orglett.8b02450
Organic Letters, Vol. 20, issue 18 (Sep. 2018) , p. 5747-5751
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10.
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6 p, 438.1 KB |
Direct Asymmetric Hydrogenation of N-Methyl and N-Alkyl Imines with an Ir(III)H Catalyst
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Salomó, Ernest (Instituto de Investigaciones Biomédicas de Barcelona) ;
Gallen, Albert (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Sciortino, Giuseppe (Universitat Autònoma de Barcelona. Departament de Química) ;
Ujaque Pérez, Gregori (Universitat Autònoma de Barcelona. Departament de Química) ;
Grabulosa, Arnald (Universitat de Barcelona. Departament de Química Inorgànica i Orgànica) ;
Lledós, Agustí (Universitat Autònoma de Barcelona. Departament de Química) ;
Riera, Antoni (Instituto de Investigaciones Biomédicas de Barcelona) ;
Verdaguer, Xavier (Instituto de Investigaciones Biomédicas de Barcelona)
A novel cationic [IrH(THF)(P,N)(imine)] [BArF] catalyst containing a P-stereogenic MaxPHOX ligand is described for the direct asymmetric hydrogenation of N-methyl and N-alkyl imines. This is the first catalytic system to attain high enantioselectivity (up to 94% ee) in this type of transformation. [...]
2018 - 10.1021/jacs.8b11547
Journal of the American Chemical Society, Vol. 140, Issue 49 (December 2018) , p. 16967-16970
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