Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Autor: Rita Barone, Filippo Vairo, Bobby G. Ng, Jaak Jaeken, Gert Matthijs, James Pitt, Thierry Dupré, Lyndon Gallacher, Liesbeth Keldermans, Helen Michelakakis, Marina Ventouratou, Susan M. White, Sze Chern Lim, Melissa Baerenfaenger, Mirian C. H. Janssen, Angel Ashikov, Karin Huijben, Sandrine Vuillaumier-Barrot, Diana Ballhausen, Daisy Rymen, Agustí Rodríguez-Palmero, Blai Morales-Romero, Antonia Ribes, Peter Witters, Heidi Peters, Erika Souche, Eva Morava, Agata Fiumara, Pascale de Lonlay, Matthew P. Wilson, Dirk Lefeber, Wasantha Ranatunga, Alejandro Garanto, Hudson H. Freeze, Christian Thiel

Publikováno v: American Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
The American Journal of Human Genetics
Wilson, M P, Garanto, A, Pinto e Vairo, F, Ng, B G, Ranatunga, W K, Ventouratou, M, Baerenfaenger, M, Huijben, K, Thiel, C, Ashikov, A, Keldermans, L, Souche, E, Vuillaumier-Barrot, S, Dupré, T, Michelakakis, H, Fiumara, A, Pitt, J, White, S M, Lim, S C, Gallacher, L, Peters, H, Rymen, D, Witters, P, Ribes, A, Morales-Romero, B, Rodríguez-Palmero, A, Ballhausen, D, de Lonlay, P, Barone, R, Janssen, M C H, Jaeken, J, Freeze, H H, Matthijs, G, Morava, E & Lefeber, D J 2021, ' Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings ', American Journal of Human Genetics, vol. 108, no. 11, pp. 2130-2144 . https://doi.org/10.1016/j.ajhg.2021.09.012
American Journal of Human Genetics, 108(11), 2130-2144. Cell Press
American Journal of Human Genetics, 108, 11, pp. 2130-2144
American Journal of Human Genetics, 108, 2130-2144
Am J Hum Genet

Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f124a26c20753d3232c900ffc2a8a140
https://research.vu.nl/en/publications/1bed4f1e-f652-4ed4-a577-46c9142faa56

Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome

Autor: Daniel Rodríguez-Alcalde, Angeles Pizarro, Maria Pellise, Cristina Romero, Berta Caballol, Lorena Moreno, Esteban Saperas, Eva Martinez de Castro, Gemma Llort, Laura Rivas, Catalina Garau, Ariadna Sánchez, Elena Aguirre, Sabela Carballal, Virginia Piñol, Eva Barreiro-Alonso, Matilde Navarro, Lorena Rodríguez-Alonso, Marta Garzon, Xavier Bessa, Teresa Ocaña, Marta Ponce, Carmen Poves, Inmaculada Salces, Gerhard Jung, Cristina Alvarez-Urrutia, Maite Herraiz, Liseth Rivero-Sánchez, Evelien Dekker, Joan Brunet, Judith Balmaña, Maribel Gonzalez-Acosta, Francesc Balaguer, Blai Morales-Romero, Luis Bujanda, Leticia Moreira, Joaquín Cubiella, Teresa Ramón y Cajal, Marta Pineda, Miquel Serra-Burriel, Victorine H. Roos, María Dolores Picó, Andres Dacal, Antoni Castells, Lucía Cid, Maria Jesus López-Arias, Rodrigo Jover, Francisco Rodríguez-Moranta, Gabriel Capellá, Marta Carrillo-Palau, Barbara A. J. Bastiaansen, Adrià López-Fernández

Publikováno v: Clinical Gastroenterology and Hepatology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-FISABIO. Repositorio Institucional de Producción Científica
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Clinical gastroenterology and hepatology. W.B. Saunders Ltd

BACKGROUND & AIMS: Colonoscopy reduces colorectal cancer (CRC) incidence and mortality in Lynch syndrome (LS) carriers. However, a high incidence of postcolonoscopy CRC (PCCRC) has been reported. Colonoscopy is highly dependent on endoscopist skill a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326896ed1b8161a16f94ea9dc2d4923c
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7940

Liver FoxO1 overexpression is positively associated with the degree of liver injury in cirrhotic patients

Autor: Montse Pauta, Manuel Morales-Ruiz, Loreto Boix, Blai Morales-Romero, Gregori Casals, Laura Macias, Silvia Sandalinas, Jordi Ribera, Esther Fernández-Galán, Jordi Bruix, Wladimiro Jiménez

IntroductionChronic liver disease is associated with high mortality. Liver transplantation is the definitive treatment for patients with end-stage liver disease, improving their survival and quality of life. However, chronic rejection of the graft an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c98f996c6a0f60e948e68891918dc6d1
https://doi.org/10.1101/2020.11.05.369504

Accuracy of immunoassay and mass spectrometry urinary free cortisol in the diagnosis of Cushing’s syndrome

Autor: Wladimiro Jiménez, Gloria Aranda, M. Careaga, Irene Halperin, Felicia A. Hanzu, Mireia Mora, Ioana Patrascioiu, Gregori Casals, P. Ríos, Blai Morales-Romero

Publikováno v: Pituitary. 19:496-502

Urinary free cortisol (UFC) determination by highly specific methods as mass spectrometry instead of commercially available antibody-based immunoassays is increasingly recommended. However, clinical comparisons of both analytical approaches in the sc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f1912f8d4fb4d460e3c85bbcfe2d27
https://doi.org/10.1007/s11102-016-0730-5

Evaluación multicéntrica del nuevo sistema analítico BioSystems BA 400® y comparación de procedimientos de medida

Autor: Dolors Pelegrí Santos, Immaculada Comas Reixach, Bernardino González De La Presa, F. Javier Gella Tomás, Jaume Mont Borrell, Sergi Tortosa Morist, Dolors Dot Bach, Javier Sánchez Álvarez, Blai Morales Romero

Publikováno v: Revista del Laboratorio Clínico. 6:157-167

Resumen Objetivo El objetivo de este trabajo fue evaluar, mediante un estudio multicentrico, la imprecision y la veracidad de un elevado numero de procedimientos de medida en el nuevo sistema analitico BioSystems BA 400 ® . Material y metodo El estu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::46f9daf3892e2c369eccfe9b780e0812
https://doi.org/10.1016/j.labcli.2013.10.003