• Diagnosis and follow-up of patients with Hunter syndrome in Spain A Delphi consensus 

  González-Gutiérrez-Solana, Luis; Guillén-Navarro, Encarna; del-Toro, Mireia; Dalmau, Jaime; González-Meneses, Antonio; Couce, María-L (LIPPINCOTT WILLIAMS & WILKINS, 2018-07)

  Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. ...
• One-carbon metabolism biomarkers and risk of urothelial cell carcinoma in the European prospective investigation into cancer and nutrition 

  Vrieling, Alina; Bueno-de-Mesquita, Bas; Ros, Martine-M; Kampman, Ellen; Aben, Katja-K; Buchner, Frederike-L; Jansen, Eugene-H; Roswall, Nina; Tjonneland, Anne; Boutron-Ruault, Marie-Christine; Cadeau, Claire; Chang-Claude, Jenny; Kaaks, Rudolf; Weikert, Steffen; Boeing, Heiner; Trichopoulou, Antonia; Lagiou, Pagona; Trichopoulos, Dimitrios; Sieri, Sabina; Palli, Domenico; Panico, Salvatore; Peeters, Petra-H; Weiderpass, Elisabete; Skeie, Guri; Jakszyn, Paula; Chirlaque-López, María-Dolores; Ardanaz, Eva; Sánchez, María-José; Ehrnstrom, Roy; Malm, Johan; Ljungberg, Borje; Khaw, Kay-Tee; Wareham, Nick-J; Brennan, Paul; Johansson, Mattias; Riboli, Elio; Kiemeney, Lambertus-A (WILEY, 2019-11-01)

  Published associations between dietary folate and bladder cancer risk are inconsistent. Biomarkers may provide more accurate measures of nutrient status. This nested case-control analysis within the European Prospective ...
• Large retroperitoneal lymphadenopathy and increased risk of venous thromboembolism in patients receiving first-line chemotherapy for metastatic germ cell tumors: A study by the global germ cell cancer group (G3) 

  Tran, Ben; Ruiz-Morales, Jose-M; González-Billalabeitia, Enrique; Patrikidou, Anna; Amir, Eitan; Seidel, Christoph; Bokemeyer, Carsten; Fankhauser, Christian; Hermanns, Thomas; Rumyantsev, Alexey; Tryakin, Alexey; Brito, Margarida; Flechon, Aude; Kwan, Edmond-Michael; Cheng, Tina; Castellano, Daniel; del-Muro, Xavier-García; Hamid, Anis-A; Ottaviano, Margaret; Palmieri, Giovannella; Kitson, Robert; Reid, Alison; Heng, Daniel-Y-C; Bedard, Philippe-L (WILEY, 2020-01)

  BACKGROUND: Metastatic germ cell tumor (mGCT) patients receiving chemotherapy have increased risk of life-threatening venous thromboembolism (VTE). Identifying VTE risk factors may guide thromboprophylaxis in this highly ...
• Are environmental risk factors for current wheeze in the International Study of Asthma and Allergies in Childhood (ISAAC) phase three due to reverse causation? 

  Silverwood, Richard-J; Rutter, Charlotte-E; Mitchell, Edwin-A; Asher, M-Innes; García-Marcos, Luis; Strachan, David-P; Pearce, Neil; Ait-Khaled, N; Anderson, H-R; Asher, M-I; Beasley, R; Bjorksten, B; Brunekreef, B; Crane, J; Ellwood, P; Flohr, C; Foliaki, S; Forastiere, F; García-Marcos, Luis; Keil, U; Lai, C-K-W; Mallol, J; Montefort, S; Odhiambo, J; Pearce, N; Robertson, C-F; Strachan, D; von-Mutius, E; Weiland, S-K; Weinmayr, G; Williams, H-C; Wong, G; Clayton, T-O; Mitchell, E-A; Stewart, A-W; Baena-Cagnani, C-E; Gómez, M; Howitt, M-E; Weyler, J; Pinto-Vargas, R; da-Cunha, A-J; de-Freitas-Souza, L; Kuaban, C; Ferguson, A; Rennie, D; Standring, P; Aguilar, P; Amarales, L; Benavides, L-A; Contreras, A; Chen, Y-Z; Kunii, O; Pan, Li; Zhong, N-S; Aristizabal, G; Cepeda, A-M; Ordonez, G-A; Bustos, C; Riikjarv, M-A; Melaku, K; Sa'aga-Banuve, R; Pekkanen, J; Hypolite, I-E; Novak, Z; Zsigmond, G; Awasthi, S; Bhave, S; Hanumante, N-M; Jain, K-C; Joshi, M-K; Khatav, V-A; Mantri, S-N; Pherwani, A-V; Rego, S; Sabir, M; Salvi, S; Setty, G; Sharma, S-K; Singh, V; Sukumaran, T; Babu, P-S-Suresh; Kartasasmita, C-B; Konthen, P; Suprihati, W; Masjedi, M-R; Steriu, A; Koffi, B-N; Odajima, H; al-Momen, J-A; Imanalieva, C; Kudzyte, J; Quah, B-S; Teh, K-H; Montefort, S; Baeza-Bacab, M; Barragan-Meijueiro, M; del-Rio-Navarro, B-E; García-Almaraz, R; González-Díaz, S-N; Linares-Zapien, F-J; Mérida-Palacio, J-V; Ramírez-Chanona, N; Romero-Tapia, S; Romieu, I; Bouayad, Z; Asher, M-I; MacKay, R; Moyes, C; Pattemore, P; Pearce, N; Onadeko, B-O; Cukier, G; Chiarella, P; Cua-Lim, F; Breborowicz, A; Lis, G; Cámara, R; Chiera, M-L; Lopes-dos-Santos, J-M; Nunes, C; Pinto, J-Rosado; Vlaski, E; Fuimaono, P; Pisi, V; Goh, D-Y; Zar, H-J; Lee, H-B; Blanco-Quiros, A; Busquets, R-M; Carvajal-Uruena, I; García-Hernández, G; García-Marcos, Luis; González-Díaz, C; López-Silvarrey, A; Morales-Suárez-Varela, María; Pérez-Yarza, E-G; Musa, O-A; Al-Rawas, O; Mohammad, S; Mohammad, Y; Tabbah, K; Huang, J-L; Kao, C-C; Trakultivakorn, M; Vichyanond, P; Iosefa, T; Burr, M; Strachan, D; Holgado, D; Lapides, M-C; Windom, H-H; Aldrey, O; Sole, D; Sears, M; Aguirre, V; Barba, S; Shah, J; Baratawidjaja, K; Nishima, S; de-Bruyne, J; Tuuau-Potoi, N; Lai, C-K; Lee, B-W; El-Sony, A; Anderson, R (WILEY, 2019-04)

  BACKGROUND: Phase Three of the International Study of Asthma and Allergies in Childhood (ISAAC) measured the global prevalence of symptoms of asthma in children. We undertook comprehensive analyses addressing risk factors ...
• Association between post-procedural hyperoxia and poor functional outcome after mechanical thrombectomy for ischemic stroke: an observational study 

  Vargas-López, Héctor; Fernaádez-Vivas, Miguel; Nuñez-Ruiz, Rafael; Ros-Martínez, Jose; García-Villalba-Navaridas, Blanca; García-Villa, Manuel; Llamas-Lázaro, Cristina; Jara-Rubio, Rubén; Morales-Ortiz, Ana-María; Albert-Lacal, Laura; Moreno-Diéguez, Antonio (SPRINGEROPEN, 2019-05-24)

  BACKGROUND: The actual effects of oxygen therapy on patients who have suffered a stroke are still unknown, and its recommendation as a routine measure in emergency services remains controversial. The aim of this study is ...
• Regulation of boar sperm functionality by the nitric oxide synthase/nitric oxide system 

  Staicu, Florentin-Daniel; López-Ubeda, Rebeca; Romero-Aguirregomezcorta, Jon; Martínez-Soto, Juan-Carlos; Matas-Parra, Carmen (SPRINGER/PLENUM PUBLISHERS, 2019-08)

  PURPOSE: Nitric oxide (NO) is a free radical synthesized mainly by nitric oxide synthases (NOSs). NO regulates many aspects in sperm physiology in different species. However, in vitro studies investigating NOS distribution, ...
• Recommendations for follow-up of colorectal cancer survivors 

  Vera, R; Aparicio, J; Carballo-Álvarez, Luis-Fernando; Esteva, M; González-Flores, E; Santianes, J; Santolaya, F; Fernández-Cebrián, J-M (SPRINGER INTERNATIONAL PUBLISHING AG, 2019-10)

  Colorectal cancer (CRC) is one of the tumours with the highest incidence and mortality in the Spanish population. Nevertheless, the advances in prevention and treatment have contributed to an increased number of patients ...
• Recommendations for follow-up of colorectal cancer survivors (vol 21, pg 1302, 2019) 

  Vera, R; Aparicio, J; Carballo-Álvarez, Luis-Fernando; Esteva, M; González-Flores, E; Santianes, J; Santolaya, F; Fernández-Cebrián, J-M (SPRINGER INTERNATIONAL PUBLISHING AG, 2019-10)

  In the published article, the following information was missing.
• Structural and functional analysis of Oceanobacillus iheyensis macrodomain reveals a network of waters involved in substrate binding and catalysis 

  Zapata-Pérez, Rubén; Gil-Ortiz, Fernando; Martínez-Moñino, Ana-Belén; García-Saura, Antonio Ginés; Juan-Carloshuix, Jordi; Sánchez-Ferrer, Álvaro (ROYAL SOC, 2017-04)

  Macrodomains are ubiquitous conserved domains that bind or transform ADP-ribose (ADPr) metabolites. In humans, they are involved in transcription, X-chromosome inactivation, neurodegeneration and modulating PARP1 signalling, ...
• Biochemical characterization of a new nicotinamidase from an unclassified bacterium thriving in a geothermal water stream microbial mat community 

  Zapata-Pérez, Rubén; Martínez-Moñino, Ana-Belén; García-Saura, Antonio Ginés; Cabanes, Juana; Takami, Hideto; Sánchez-Ferrer, Álvaro (PUBLIC LIBRARY SCIENCE, 2017-07-27)

  Nicotinamidases are amidohydrolases that convert nicotinamide into nicotinic acid, contributing to NAD+ homeostasis in most organisms. In order to increase the number of nicotinamidases described to date, this manuscript ...
• Removal of the blue component of light significantly decreases retinal damage after high intensity exposure 

  Vicente-Tejedor, Javier; Marchena, Miguel; Ramírez, Laura; García-Ayuso, Diego; Gómez-Vicente, Violeta; Sánchez-Ramos, Celia; de-la-Villa, Pedro; Germain, Francisco (PUBLIC LIBRARY SCIENCE, 2018-03-15)

  Light causes damage to the retina (phototoxicity) and decreases photoreceptor responses to light. The most harmful component of visible light is the blue wavelength (400-500 nm). Different filters have been tested, but so ...
• Anchoring cortical granules in the cortex ensures trafficking to the plasma membrane for post-fertilization exocytosis (vol 10, 2271, 2019) 

  Vogt, Edgar-John; Tokuhiro, Keizo; Guo, Min; Dale, Ryan; Yang, Guanghui; Shin, Seung-Wook; Jiménez-Movilla, María; Shroff, Hari; Dean, Jurrien (NATURE PUBLISHING GROUP, 2019-06-27)

  An amendment to this paper has been published and can be accessed via a link at the top of the paper.
• Anchoring cortical granules in the cortex ensures trafficking to the plasma membrane for post-fertilization exocytosis 

  Vogt, Edgar-John; Tokuhiro, Keizo; Guo, Min; Dale, Ryan; Yang, Guanghui; Jiménez-Movilla, María; Shroff, Hari; Dean, Jurrien (NATURE PUBLISHING GROUP, 2019-05-22)

  Following fertilization, cortical granules exocytose ovastacin, a metalloendopeptidase that cleaves ZP2 in the zona pellucida surrounding mouse eggs to prevent additional sperm binding. Using high- and super-resolution ...
• The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) 

  van-der-Sluijs, Pleuntje-J; Jansen, Sandra; Vergano, Samantha-A; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia-K; Bok, Levinus-A; Brouwer, Alwin-F-J; van-der-Burgt, Ineke; Campeau, Philippe-M; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo-W-Y; Chung, Brain-H-Y; Dahan, Karin; De-Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen-R; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica-H; Grasshoff, Ute; van-Haeringen, Arie; Heitink, Karin-R; Herkert, Johanna-C; den-Hollander, Nicolette-S; Horn, Denise; Hunt, David; Kant, Sarina-G; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone-W; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia-M-S; Marcelis, Carlo; Martínez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John-B; Netzer, Christian; Ockeloen, Charlotte-W; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon-N-M; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen-P; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne-G; Rosello, Mónica; Ruivenkamp, Claudia-A-L; Sagiroglu, Mahmut-S; Sallevelt, Suzanne-C-E-H; Sanchís-Calvo, Amparo; Simsek-Kiper, Pelin-O; Soares, Gabriela; Solaeche, Lucía; Sonmez, Fatma-Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander-P-A; Stumpel, Constance-T-R-M; Tanabe, Saori; Uctepe, Eyyup; Utine, G-Eda; Veenstra-Knol, Hermine-E; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van-Silfhout, Anneke-T; Wheeler, Patricia; Wilson, Golder-N; Wilson, Louise-C; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de-Vries, Bert-B-A; Clayton-Smith, Jill; Santen, Gijs-W-E (NATURE PUBLISHING GROUP, 2019-09)

  The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and ...
• Cytoplasmic cleavage of DPPA3 is required for intracellular trafficking and cleavage-stage development in mice 

  Shin, Seung-Wook; Vogt, Edgar-John; Jiménez-Movilla, María; Baibakov, Boris; Dean, Jurrien (NATURE PUBLISHING GROUP, 2017-11-21)

  Degradation of maternal proteins by the ubiquitin-proteasome system (UPS) accompanies the maternal-to-zygotic transition. DPPA3/Stella/PGC7, encoded by a maternal effect gene, is present in the nucleus and cytoplasm of ...
• Modifiable lifestyle behaviors, but not a genetic risk score, associate with metabolic syndrome in evening chronotypes 

  Vera, Beatriz; Dashti, Hassan-S; Gómez-Abellán, Purificación; Hernández-Martínez, Antonio-Miguel; Esteban, Alberto; Scheer, Frank-A-J-L; Saxena, Richa; Garaulet, Marta (NATURE PORTFOLIO, 2018-01-17)

  Evening chronotype associates with health complications possibly via lifestyle factors, while the contribution of genetics is unknown. The aim was to study the relative contributions of genetics, lifestyle, and circadian-related ...
• Climate drivers of the 2017 devastating fires in Portugal 

  Turco, Marco; Jerez, Sonia; Augusto, Sofia; Tarin-Carrasco, Patricia; Ratola, Nuno; Jiménez-Guerrero, Pedro; Trigo, Ricardo-M (NATURE PORTFOLIO, 2019-10-10)

  A record 500,000 hectares burned in Portugal during the extreme wildfire season of 2017, with more than 120 human lives lost. Here we analyse the climatic factors responsible for the burned area (BA) from June to October ...
• Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments 

  Trouillet, Alix; Dubus, Elisabeth; Degardin, Julie; Estivalet, Amrit; Ivkovic, Ivana; Godefroy, David; García-Ayuso, Diego; Simonutti, Manuel; Sahly, Iman; Sahel, Jose-A; El-Amraoui, Aziz; Petit, Christine; Picaud, Serge (NATURE PORTFOLIO, 2018-01-31)

  Usher syndrome type 1 (USH1) is a major cause of inherited deafness and blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is characterized by a secondary cone degeneration following ...
• Differential miRNA expression profile and proteome in plasma exosomes from patients with paroxysmal nocturnal hemoglobinuria 

  Teruel-Montoya, Raúl; Luengo-Gil, Ginés; Vallejo, Fernando; Enrique-Yuste, Jose; Bohdan, Natalia; García-Barbera, Nuria; Espín, Salvador; Martínez, Constantino; Espín, Juan-Carlos; Vicente, Vicente; Martínez-Martínez, Irene (NATURE PORTFOLIO, 2019-03-05)

  Paroxysmal Nocturnal Hemoglobinuria (PNH) is a clonal disease of blood cells caused by the lack of glycosyl phosphatidyl inositol anchored proteins bound to the cell membrane. In consequence, erythrocytes lead to intravascular ...
• Improving porcine in vitro fertilization output by simulating the oviductal environment 

  Soriano-Úbeda, Cristina; García-Vázquez, Francisco-Alberto; Romero-Aguirregomezcorta, Jon; Matas-Parra, Carmen (NATURE PORTFOLIO, 2017-03-06)

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