Results 31 to 40 of about 7,317 (224)

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

La rigidité du cadre constitutionnel espagnol en ce qui concerne la répartition territoriale du pouvoir et le processus catalan de « déconnexion »

Cahiers de Civilisation Espagnole Contemporaine, 2017
The democratic process that Catalan institutions have begun with the expressed intention of "disconnecting" from the Spanish constitutional and legal framework, and thus creating a Catalan Republic, follows up at a steady pace after the elections held in
Andrés Boix Palop
doaj   +1 more source

Emotional experiences and stigma among families benefiting from Barcelona's shock plan against school segregation and for inclusion and equal opportunities and educational success

British Educational Research Journal, EarlyView.
Abstract This article examines the emotional experiences and processes of stigmatisation encountered by families benefiting from the Shock Plan Against Segregation and for Inclusion, Equal Opportunities and Educational Success (SP), implemented in Barcelona.
Andrea Jover, Martí Manzano, Berta Llos, Andreu Termes   +3 more
wiley   +1 more source

Cardiogenic shock mortality according to Aetiology in a Mediterranean cohort: Results from the Shock‐CAT study

ESC Heart Failure, Volume 12, Issue 2, Page 1336-1345, April 2025.
Abstract Aims Mortality in cardiogenic shock (CS) remains elevated, with the potential for CS causes to impact prognosis and risk stratification. The aim was to investigate in‐hospital prognosis and mortality in CS patients according to aetiology. We also assessed the prognostic accuracy of CardShock and IABP‐SHOCK II scores.
Cosme García‐García, Teresa López‐Sobrino, Esther Sanz‐Girgas, Maria R. Cueto, Jaime Aboal, Pablo Pastor, Irene Buera, Alessandro Sionis, Rut Andrea, Judit Rodríguez‐López, Jose Carlos Sánchez‐Salado, Carlos Tomas, Jordi Bañeras, Albert Ariza, Josep Lupón, Antoni Bayés‐Genís, Ferran Rueda, Grup de Treball de Cures Agudes Cardiològiques Societat Catalana de Cardiologia   +17 more
wiley   +1 more source

Integrating polygenic and methylation risk scores for pleural mesothelioma risk stratification

International Journal of Cancer, EarlyView.
What's New? Asbestos exposure is a major risk factor for pleural mesothelioma (PM). Most asbestos‐exposed individuals do not develop PM, suggesting that it arises from a complex interplay between environmental and genetic factors. This study examined the utility of polygenic risk scores (PRS) and methylation risk scores (MRS) in incorporating genetic ...
Khadija Sana Hafeez, Carla Debernardi, Alessandra Allione, Elton Jalis Herman, Simonetta Guarrera, Daniela Ferrante, Anna Aspesi, Marika Sculco, Marta La Vecchia, Carlotta Sacerdote, Federica Grosso, Christina M. Lill, Giovanna Masala, Marcela Guevara, Matthias B. Schulze, Salvatore Panico, Yaszan Asgari, Seehyun Park, Giovanna Tagliabue, Anne Tjønneland, Antonio Agudo, Elisabete Weiderpass, Corrado Magnani, Irma Dianzani, Paolo Vineis, Elisabetta Casalone, Giuseppe Matullo   +26 more
wiley   +1 more source

ULK4 and CDKN2A polymorphisms influence the risk of developing monoclonal gammopathy of undetermined significance

International Journal of Cancer, EarlyView.
What's New? Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic precursor to multiple myeloma, sharing substantial genetic features with overt malignancy. Given evidence implicating autophagy in myeloma risk, this study examined whether genetic variations in autophagy‐related genes influence MGUS susceptibility.
José Manuel Sánchez‐Maldonado, Angelica Macauda, Antonio José Cabrera‐Serrano, Hauke Thomsen, Murat Güler, Rob Ter Horst, Bethany van Guelpen, Pavel Vodicka, Stefano Landi, Subhayan Chattopadhyay, Pelin Ünal, Lucía Ruiz‐Durán, Delphine Casabonne, Hartmut Goldschmidt, Istemi Serin, María Carretero‐Fernández, Elena Cabezudo, Fernando Reyes‐Zurita, Aaron D. Norman, Ramón García‐Sanz, Gabriele Capurso, Per Hoffmann, Ulrika Pettersson‐Kymmer, Francisco Jiménez‐Romera, S. Vincent Rajkumar, Niels Weinhold, Ludmila Vodickova, Christian Langer, Angelika Stein, Abdulkadir Karismaz, Victor Moreno, Markus M. Nöthen, Karl‐Heinz Jöckel, Francesca Tavano, Joaquín Martínez‐López, Shaji K. Kumar, Juan Francisco Gutiérrez‐Bautista, Daniela Basso, Florentin Späth, Yolanda Benavente, Michelle A. T. Hildebrandt, Börge Schmidt, Tereza Sevcikova, Rui Manuel Vieira Reis, Yang Li, Miguel Ángel López‐Nevot, Mihai G. Netea, Daniele Campa, Alyssa Clay‐Gilmour, Susan L Slager, Kari Hemminki, Celine M Vachon, Asta Försti, Federico Canzian, Juan Sainz   +54 more
wiley   +1 more source

Immunomodulation of the Prostate Tumor Microenvironment Following Inorganic Arsenic Exposure

Journal of Applied Toxicology, EarlyView.
ABSTRACT The tumor microenvironment (TME) influences prostate cancer (PCa) progression through stromal and immune interactions. Adipose‐derived mesenchymal stromal cells (ASCs) modulate immune tone, while inorganic arsenic (iAs), a widespread toxicant, is linked to immune suppression and carcinogenesis.
Joseph J. Shearer, Cosette Rivera‐Cruz, Alexandre M. B. Cavalca, Carlos Eduardo Fonseca‐Alves, Marxa L. Figueiredo   +4 more
wiley   +1 more source

When the State Imposes the “Commons”: Pastoralism After the Reintroduction of the Brown Bear in the Pyrenees

Conservation & Society, 2021
After the brown bear reintroduction program was launched in the Pyrenees in 1996, the French and Spanish States fostered and funded a regrouping policy to protect the sheep flocks from the bear attacks.
Ferran Pons-Raga, Lluís Ferrer, Oriol Beltran, Ismael Vaccaro   +3 more
doaj   +1 more source

Impact of the Unified Protocol on Attenuated Psychotic Symptoms, Cognitive Biases and Cognitive Insight in Patients at Ultra High Risk (UHR) for Psychosis: Secondary Results of a Pilot Randomized Controlled Trial

Journal of Clinical Psychology, EarlyView.
ABSTRACT Background and Hypothesis Ultra high risk (UHR) for psychosis can have different clinical trajectories but the remission rates are only 51.9% after 3 years of follow‐up. Deficits in metacognition are associated with severity of symptoms and poor response to treatment.
Trinidad Peláez, Raquel López‐Carrilero, Victoria Espinosa, Sol Balsells, Paolo Fusar‐Poli, Susana Ochoa, Jorge Osma   +6 more
wiley   +1 more source

A ordem dos constituintes adjetivo e substantivo na língua catalã: uma análise diacrônica [PDF]

Sintagma, 2003
The order of the constituents adjective and substantive in the Catalan language: a diachronical analysis. In face of the quantitative analysis of sintagma nominal (SN) of the Catalan language, giving relevance to the relations between the constituents ...
Bruno Zenóbio
doaj