Works matching AU Bosch, Elena

Results: 44

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00636

By:

de Valles-Ibáñez, Guillem;
Esteve-Solé, Ana;
Piquer, Mònica;
González-Navarro, E. Azucena;
Hernandez-Rodriguez, Jessica;
Laayouni, Hafid;
González-Roca, Eva;
Plaza-Martin, Ana María;
Deyà-Martínez, Ángela;
Martín-Nalda, Andrea;
Martínez-Gallo, Mónica;
García-Prat, Marina;
del Pino-Molina, Lucía;
Cuscó, Ivón;
Codina-Solà, Marta;
Batlle-Masó, Laura;
Solís-Moruno, Manuel;
Marquès-Bonet, Tomàs;
Bosch, Elena;
López-Granados, Eduardo

Publication type:

Article

Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.

Published in:

Human Mutation, 2020, v. 41, n. 7, p. 1308, doi. 10.1002/humu.24016

By:

Gil‐Varea, Elia;
Spataro, Nino;
Villar, Luisa María;
Tejeda‐Velarde, Amalia;
Midaglia, Luciana;
Matesanz, Fuencisla;
Malhotra, Sunny;
Eixarch, Herena;
Patsopoulos, Nikolaos;
Fernández, Óscar;
Oliver‐Martos, Begoña;
Saiz, Albert;
Llufriu, Sara;
Ramió‐Torrentà, Lluís;
Quintana, Ester;
Izquierdo, Guillermo;
Alcina, Antonio;
Bosch, Elena;
Navarro, Arcadi;
Montalban, Xavier

Publication type:

Article

Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-78081-z

By:

Walsh, Sandra;
Izquierdo-Serra, Mercè;
Acosta, Sandra;
Edo, Albert;
Lloret, María;
Moret, Roser;
Bosch, Elena;
Oliva, Baldo;
Bertranpetit, Jaume;
Fernández-Fernández, José Manuel

Publication type:

Article

Analysis of Five Gene Sets in Chimpanzees Suggests Decoupling between the Action of Selection on Protein-Coding and on Noncoding Elements.

Published in:

Genome Biology & Evolution, 2015, v. 7, n. 6, p. 1490, doi. 10.1093/gbe/evv082

By:

Santpere, Gabriel;
Carnero-Montoro, Elena;
Petit, Natalia;
Serra, François;
Hvilsom, Christina;
Rambla, Jordi;
Heredia-Genestar, Jose Maria;
Halligan, Daniel L.;
Dopazo, Hernan;
Navarro, Arcadi;
Bosch, Elena

Publication type:

Article

African signatures of recent positive selection in human FOXI1.

Published in:

BMC Evolutionary Biology, 2010, v. 10, p. 267, doi. 10.1186/1471-2148-10-267

By:

Moreno-Estrada, Andrés;
Aparicio-Prat, Estel;
Sikora, Martin;
Engelken, Johannes;
Ramírez-Soriano, Anna;
Calafell, Francesc;
Bosch, Elena

Publication type:

Article

Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.

Published in:

2017

By:

Spataro, Nino;
Roca‐Umbert, Ana;
Cervera‐Carles, Laura;
Vallès, Mònica;
Anglada, Roger;
Pagonabarraga, Javier;
Pascual‐Sedano, Berta;
Campolongo, Antònia;
Kulisevsky, Jaime;
Casals, Ferran;
Clarimón, Jordi;
Bosch, Elena

Publication type:

journal article

Extreme individual marker F<sub>ST </sub>values do not imply population-specific selection in humans: the NRG1 example.

Published in:

Human Genetics, 2007, v. 121, n. 6, p. 759, doi. 10.1007/s00439-007-0364-9

By:

Gardner, Michelle;
Williamson, Scott;
Casals, Ferran;
Bosch, Elena;
Navarro, Arcadi;
Calafell, Francesc;
Bertranpetit, Jaume;
Comas, David

Publication type:

Article

High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis.

Published in:

Human Genetics, 2003, v. 112, n. 4, p. 353, doi. 10.1007/s00439-003-0913-9

By:

Bosch, Elena;
Calafell, Francesc;
Rosser, Zoë H.;
Nørby, Søren;
Lynnerup, Niels;
Hurles, Matthew E.;
Jobling, Mark A.

Publication type:

Article

Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis.

Published in:

Human Genetics, 2002, v. 110, n. 6, p. 592, doi. 10.1007/s00439-002-0728-0

By:

Ploski, Rafal;
Wozniak, Marcin;
Pawlowski, Ryszard;
Monies, Dorota;
Branicki, Wojciech;
Kupiec, Tomasz;
Kloosterman, Ate;
Dobosz, Tadeusz;
Bosch, Elena;
Nowak, Magdalena;
Lessig, Rüdiger;
Jobling, Mark A.;
Roewer, Lutz;
Kayser, Manfred

Publication type:

Article

Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.

Published in:

Molecular Biology & Evolution, 2024, v. 41, n. 2, p. 1, doi. 10.1093/molbev/msae015

By:

Sinigaglia, Barbara;
Escudero, Jorge;
Biagini, Simone A;
Garcia-Calleja, Jorge;
Moreno, Josep;
Dobon, Begoña;
Acosta, Sandra;
Mondal, Mayukh;
Walsh, Sandra;
Aguileta, Gabriela;
Vallès, Mònica;
Forrow, Stephen;
Martin-Caballero, Juan;
Migliano, Andrea Bamberg;
Bertranpetit, Jaume;
Muñoz, Francisco J;
Bosch, Elena

Publication type:

Article

Uncovering Signals of Positive Selection in Peruvian Populations from Three Ecological Regions.

Published in:

Molecular Biology & Evolution, 2022, v. 39, n. 8, p. 1, doi. 10.1093/molbev/msac158

By:

Caro-Consuegra, Rocio;
Nieves-Colón, Maria A;
Rawls, Erin;
Rubin-de-Celis, Verónica;
Lizárraga, Beatriz;
Vidaurre, Tatiana;
Sandoval, Karla;
Fejerman, Laura;
Stone, Anne C;
Moreno-Estrada, Andrés;
Bosch, Elena

Publication type:

Article

The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm.

Published in:

Molecular Biology & Evolution, 2021, v. 38, n. 7, p. 2804, doi. 10.1093/molbev/msab070

By:

Font-Porterias, Neus;
Caro-Consuegra, Rocio;
Lucas-Sánchez, Marcel;
Lopez, Marie;
Giménez, Aaron;
Carballo-Mesa, Annabel;
Bosch, Elena;
Calafell, Francesc;
Quintana-Murci, Lluís;
Comas, David

Publication type:

Article

Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.

Published in:

Molecular Biology & Evolution, 2016, v. 33, n. 3, p. 738, doi. 10.1093/molbev/msv267

By:

Engelken, Johannes;
Espadas, Guadalupe;
Mancuso, Francesco M.;
Bonet, Nuria;
Scherr, Anna-Lena;
Jímenez-Álvarez, Victoria;
Codina-Solà, Marta;
Medina-Stacey, Daniel;
Spataro, Nino;
Stoneking, Mark;
Calafell, Francesc;
Sabidó, Eduard;
Bosch, Elena

Publication type:

Article

Allele Frequencies for 20 Microsatellites in a Worldwide Population Survey.

Published in:

Human Heredity, 1997, v. 47, n. 4, p. 189, doi. 10.1159/000154412

By:

Pérez-Lezaun, Anna;
Calafell, Francesc;
Mateu, Eva;
Comas, David;
Bosch, Elena;
Bertranpetit, Jaume

Publication type:

Article

The shared genetic architecture of schizophrenia, bipolar disorder and lifespan.

Published in:

Human Genetics, 2021, v. 140, n. 3, p. 441, doi. 10.1007/s00439-020-02213-8

By:

Muntané, Gerard;
Farré, Xavier;
Bosch, Elena;
Martorell, Lourdes;
Navarro, Arcadi;
Vilella, Elisabet

Publication type:

Article

Y Chromosomal Evidence for the Origins of Oceanic-Speaking Peoples.

Published in:

Genetics, 2002, v. 160, n. 1, p. 289, doi. 10.1093/genetics/160.1.289

By:

Hurles, Matthew E.;
Nicholson, Jayne;
Bosch, Elena;
Renfrew, Colin;
Sykes, Bryan C.;
Jobling, Mark A.

Publication type:

Article

SNPlexing the human Y-chromosome: A single-assay system for major haplogroup screening.

Published in:

Electrophoresis, 2007, v. 28, n. 18, p. 3201, doi. 10.1002/elps.200700078

By:

Berniell-Lee, Gemma;
Sandoval, Karla;
Mendizabal, Isabel;
Bosch, Elena;
Comas, David

Publication type:

Article

SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data.

Published in:

Bioinformatics, 2008, v. 24, n. 14, p. 1643, doi. 10.1093/bioinformatics/btn241

By:

Morcillo-Suarez, Carlos;
Alegre, Josep;
Sangros, Ricardo;
Gazave, Elodie;
De Cid, Rafael;
Milne, Roger;
Amigo, Jorge;
Ferrer-Admetlla, Anna;
Moreno-Estrada, Andrés;
Gardner, Michelle;
Casals, Ferran;
Pérez-Lezaun, Anna;
Comas, David;
Bosch, Elena;
Calafell, Francesc;
Bertranpetit, Jaume;
Navarro, Arcadi

Publication type:

Article

Sleep Disturbances in At-Risk Mental States and First Episode of Psychosis: A Narrative Review on Interventions.

Published in:

Clocks & Sleep, 2023, v. 5, n. 2, p. 249, doi. 10.3390/clockssleep5020020

By:

Marin, Lorena;
Guàrdia, Armand;
González-Rodríguez, Alexandre;
Haba-Rubio, José;
Natividad, Mentxu;
Bosch, Elena;
Domínguez, Noelia;
Monreal, José Antonio

Publication type:

Article

Author Correction: Understanding signatures of positive natural selection in human zinc transporter genes.

Published in:

2022

By:

Roca-Umbert, Ana;
Caro-Consuegra, Rocio;
Londono-Correa, Diego;
Rodriguez-Lozano, Gabriel Felipe;
Vicente, Ruben;
Bosch, Elena

Publication type:

Correction Notice

Understanding signatures of positive natural selection in human zinc transporter genes.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08439-y

By:

Roca-Umbert, Ana;
Caro-Consuegra, Rocio;
Londono-Correa, Diego;
Rodriguez-Lozano, Gabriel Felipe;
Vicente, Ruben;
Bosch, Elena

Publication type:

Article

Understanding signatures of positive natural selection in human zinc transporter genes.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08439-y

By:

Roca-Umbert, Ana;
Caro-Consuegra, Rocio;
Londono-Correa, Diego;
Rodriguez-Lozano, Gabriel Felipe;
Vicente, Ruben;
Bosch, Elena

Publication type:

Article

Impact of the functional CD5 polymorphism A471V on the response of chronic lymphocytic leukaemia to conventional chemotherapy regimens.

Published in:

British Journal of Haematology, 2017, v. 177, n. 1, p. 147, doi. 10.1111/bjh.14037

By:

Delgado, Julio;
Bielig, Torsten;
Bonet, Lizette;
Carnero‐Montoro, Elena;
Puente, Xose S.;
Colomer, Dolors;
Bosch, Elena;
Campo, Elias;
Lozano, Francisco

Publication type:

Article

Contribution of Evolutionary Selected Immune Gene Polymorphism to Immune-Related Disorders: The Case of Lymphocyte Scavenger Receptors CD5 and CD6.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5315, doi. 10.3390/ijms22105315

By:

Casadó-Llombart, Sergi;
Velasco-de Andrés, María;
Català, Cristina;
Leyton-Pereira, Alejandra;
Lozano, Francisco;
Bosch, Elena;
Carmo, Alexandre M.

Publication type:

Article

Human genetic adaptation related to cellular zinc homeostasis.

Published in:

PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010950

By:

Roca-Umbert, Ana;
Garcia-Calleja, Jorge;
Vogel-González, Marina;
Fierro-Villegas, Alejandro;
Ill-Raga, Gerard;
Herrera-Fernández, Víctor;
Bosnjak, Anja;
Muntané, Gerard;
Gutiérrez, Esteban;
Campelo, Felix;
Vicente, Rubén;
Bosch, Elena

Publication type:

Article

Evolutionary and Functional Evidence for Positive Selection at the Human CD5 Immune Receptor Gene.

Published in:

Molecular Biology & Evolution, 2012, v. 29, n. 2, p. 811, doi. 10.1093/molbev/msr251

By:

Carnero-Montoro, Elena;
Bonet, Lizette;
Engelken, Johannes;
Bielig, Torsten;
Martínez-Florensa, Mario;
Lozano, Francisco;
Bosch, Elena

Publication type:

Article

Interrogating 11 Fast-Evolving Genes for Signatures of Recent Positive Selection in Worldwide Human Populations.

Published in:

Molecular Biology & Evolution, 2009, v. 26, n. 10, p. 2285, doi. 10.1093/molbev/msp134

By:

Moreno-Estrada, Andrés;
Tang, Kun;
Sikora, Martin;
Marquès-Bonet, Tomàs;
Casals, Ferran;
Navarro, Arcadi;
Calafell, Francesc;
Bertranpetit, Jaume;
Stoneking, Mark;
Bosch, Elena

Publication type:

Article

Low Exchangeability of Selenocysteine, the 21st Amino Acid, in Vertebrate Proteins.

Published in:

Molecular Biology & Evolution, 2009, v. 26, n. 9, p. 2031, doi. 10.1093/molbev/msp109

By:

Castellano, Sergi;
Andrés, Aida M.;
Bosch, Elena;
Bayes, Mònica;
Guigó, Roderic;
Clark, Andrew G.

Publication type:

Article

Genetic and Demographic Implications of the Bantu Expansion: Insights from Human Paternal Lineages.

Published in:

Molecular Biology & Evolution, 2009, v. 26, n. 7, p. 1581, doi. 10.1093/molbev/msp069

By:

Berniell-Lee, Gemma;
Calafell, Francesc;
Bosch, Elena;
Heyer, Evelyne;
Sica, Lucas;
Mouguiama-Daouda, Patrick;
van der Veen, Lolke;
Hombert, Jean-Marie;
Quintana-Murci, Lluis;
Comas, David

Publication type:

Article

Signatures of Selection in the Human Olfactory Receptor OR5I1 Gene.

Published in:

Molecular Biology & Evolution, 2008, v. 25, n. 1, p. 144

By:

Moreno-Estrada, Andrés;
Casals, Ferran;
Ramírez-Soriano, Anna;
Oliva, Baldo;
Calafell, Francesc;
Bertranpetit, Jaume;
Bosch, Elena

Publication type:

Article

Genetic structure of north-west Africa revealed by STR analysis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 5, p. 360, doi. 10.1038/sj.ejhg.5200464

By:

Bosch, Elena;
Calafell, Francesc;
Pérez-Lezaun, Anna;
Clarimón, Jordi;
Comas, David;
Mateu, Eva;
Martínez-Arias, Rosa;
Morera, Bernal;
Brakez, Zahra;
Akhayat, Omar;
Sefiani, Abdelaziz;
Hariti, Ghania;
Cambon-Thomsen, Anne;
Bertranpetit, Jaume

Publication type:

Article

A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 625, doi. 10.3390/jcm9030625

By:

Gil-Varea, Elia;
Fedetz, Maria;
Eixarch, Herena;
Spataro, Nino;
Villar, Luisa María;
Urcelay, Elena;
Saiz, Albert;
Fernández, Óscar;
Leyva, Laura;
Ramió-Torrentà, Lluís;
Vandenbroeck, Koen;
Otaegui, David;
Castillo-Triviño, Tamara;
Izquierdo, Guillermo;
Malhotra, Sunny;
Bosch, Elena;
Navarro, Arcadi;
Alcina, Antonio;
Montalban, Xavier;
Matesanz, Fuencisla

Publication type:

Article

Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis.

Published in:

European Psychiatry, 2023, v. 66, n. 1, p. 1, doi. 10.1192/j.eurpsy.2023.9

By:

Muntané, Gerard;
Vázquez-Bourgon, Javier;
Sada, Ester;
Martorell, Lourdes;
Papiol, Sergi;
Bosch, Elena;
Navarro, Arcadi;
Crespo-Facorro, Benedicto;
Vilella, Elisabet

Publication type:

Article

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 3, p. 489, doi. 10.1093/hmg/ddw405

By:

Spataro, Nino;
Rodríguez, Juan Antonio;
Navarro, Arcadi;
Bosch, Elena

Publication type:

Article

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 7, p. 2023, doi. 10.1093/hmg/ddu616

By:

Spataro, Nino;
Calafell, Francesc;
Cervera-Carles, Laura;
Casals, Ferran;
Pagonabarraga, Javier;
Pascual-Sedano, Berta;
Campolongo, Antònia;
Kulisevsky, Jaime;
Lleó, Alberto;
Navarro, Arcadi;
Clarimón, Jordi;
Bosch, Elena

Publication type:

Article

Analysis of Ancestral and Functionally Relevant CD5 Variants in Systemic Lupus Erythematosus Patients.

Published in:

PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0113090

By:

Cenit, Maria Carmen;
Martínez-Florensa, Mario;
Consuegra, Marta;
Bonet, Lizette;
Carnero-Montoro, Elena;
Armiger, Noelia;
Caballero-Baños, Miguel;
Arias, Maria Teresa;
Benitez, Daniel;
Ortego-Centeno, Norberto;
de Ramón, Enrique;
Sabio, José Mario;
García–Hernández, Francisco J.;
Tolosa, Carles;
Suárez, Ana;
González-Gay, Miguel A.;
Bosch, Elena;
Martín, Javier;
Lozano, Francisco

Publication type:

Article

Similarity in Recombination Rate Estimates Highly Correlates with Genetic Differentiation in Humans.

Published in:

PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017913

By:

Laayouni, Hafid;
Montanucci, Ludovica;
Sikora, Martin;
Melé, Marta;
Dall'Olio, Giovanni Marco;
Lorente-Galdos, Belén;
McGee, Kate M.;
Graffelman, Jan;
Awadalla, Philip;
Bosch, Elena;
Comas, David;
Navarro, Arcadi;
Calafell, Francesc;
Casals, Ferran;
Bertranpetit, Jaume

Publication type:

Article

Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa.

Published in:

PLoS Genetics, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.pgen.1004128

By:

Engelken, Johannes;
Carnero-Montoro, Elena;
Pybus, Marc;
Andrews, Glen K.;
Lalueza-Fox, Carles;
Comas, David;
Sekler, Israel;
de la Rasilla, Marco;
Rosas, Antonio;
Stoneking, Mark;
Valverde, Miguel A.;
Vicente, Rubén;
Bosch, Elena

Publication type:

Article

PROTOCOLOS COMUNICATIVOS EN LA PROMOCIÓN DE SERVICIOS TURÍSTICOS.

Published in:

Quaderns de Filologia. Estudis Linguistics, 2005, v. 10, p. 205

By:

Montañés Brunet, Elvira Maria;
Bosch Abarca, Elena;
Giménez Moreno, Rosa

Publication type:

Article

Identifying signatures of positive selection in human populations from North Africa.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-35312-3

By:

Caro-Consuegra, Rocio;
Lucas-Sánchez, Marcel;
Comas, David;
Bosch, Elena

Publication type:

Article

Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 3, p. 341, doi. 10.1093/hmg/ddg031

By:

Bosch, Elena;
Jobling, Mark A.

Publication type:

Article

Recent human evolution has shaped geographical differences in susceptibility to disease.

Published in:

BMC Genomics, 2011, v. 12, n. 1, p. 55, doi. 10.1186/1471-2164-12-55

By:

Marigorta, Urko M.;
Lao, Oscar;
Casals, Ferran;
Calafell, Francesc;
Morcillo-Suárez, Carlos;
Faria, Rui;
Bosch, Elena;
Serra, François;
Bertranpetit, Jaume;
Dopazo, Hernán;
Navarro, Arcadi

Publication type:

Article

Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD.

Published in:

BMC Genomics, 2009, v. 10, p. 338, doi. 10.1186/1471-2164-10-338

By:

Bosch, Elena;
Laayouni, Hafid;
Morcillo-Suarez, Carlos;
Casals, Ferran;
Moreno-Estrada, Andrés;
Ferrer-Admetlla, Anna;
Gardner, Michelle;
Rosa, Araceli;
Navarro, Arcadi;
Comas, David;
Graffelman, Jan;
Calafell, Francesc;
Bertranpetit, Jaume

Publication type:

Article

The genetic demographic history of the last hunter-gatherer population of the Himalayas.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-80156-0

By:

Derkx, Inez;
Ceballos, Francisco;
Biagini, Simone Andrea;
Subedi, Sudarshan;
Rajbhandari, Prajwal;
Gyawali, Anita;
Bosch, Elena;
Vinicius, Lucio;
Migliano, Andrea Bamberg;
Bertranpetit, Jaume

Publication type:

Article