Results 61 to 70 of about 226,731 (230)

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Uso terapéutico de las vesículas extracelulares en insuficiencia renal aguda y crónica

Nefrología, 2017
En la década de los 90 se descubrió un nuevo sistema de comunicación célula-célula, que consiste en la liberación de vesículas cargadas con partículas bioactivas (proteínas, mRNA, miRNA, metabolitos, etc.) en el espacio extracelular.
Jordi Rovira, Fritz Diekmann, Josep M. Campistol, María José Ramírez-Bajo   +3 more
doaj   +1 more source

Eco‐Epidemiological Study of Seropositivity Against Rickettsia and Leptospira Agents in Rural Areas of Urabá, Colombia

Tropical Medicine &International Health, EarlyView.
ABSTRACT Introduction Rickettsioses and leptospirosis are infectious diseases often underdiagnosed due to limited knowledge about their epidemiology, pathophysiology, and clinical aspects. Objectives To characterize the seroprevalence and seroincidence of Rickettsia and Leptospira agents and determine their associated factors in rural areas of Urabá ...
Mariana Torres‐Bustamante, Omar Cantillo‐Barraza, Albert I. Ko, Elsio A. Wunder Jr, Juan C. Quintero‐Vélez   +4 more
wiley   +1 more source

Relaciones de fiestas barrocas: Valencia. Textos y estudios

, 2011
Repertorio bibliografico e raccolta di studi sulle 'relaciones' di feste pubbliche della città di Valencia (s.XVII).-capitoli: 1) Una aproximación a los libros de fiestas; 2) Describir en el barroco, 'ut pictura rhetorica': un ejemplo en la fiesta de ...
Gabriel Andrés, ANDRES RENALES, GABRIEL   +1 more
core   +1 more source

Ecological and Individual‐Level Factors Associated With Hantavirus Cardiopulmonary Syndrome Notifications and in‐Hospital Mortality Among Hospitalized Patients in Chile, 2005–2022

Zoonoses and Public Health, EarlyView.
ABSTRACT Introduction Hantavirus cardiopulmonary syndrome (HCPS) is a severe zoonotic disease caused by Orthohantavirus andesense (Andes virus, ANDV), with significant public health burden in Chile. Despite decades of surveillance, knowledge gaps remain regarding the ecological drivers of notification burden and the individual‐level determinants of in ...
Benjamín Diethelm‐Varela, Nicolhole Atero, Fernanda Sánchez‐Rodríguez, Constanza Martínez‐Valdebenito, Carolina Henríquez, Francisca Córdova‐Bührle, Marcela Ferrés, Fernando O. Mardones   +7 more
wiley   +1 more source

Atención primaria para las enfermedades renales en gestantes

Introducción: La mujer sana puede mostrar diversas afectaciones renales durante la gestación, desde formas agudas leves sin consecuencias hasta formas graves, que comprometen la llegada al término de la gestación y provocan severas consecuencias para la ...
Niuvis Ávila Aldana, Gregorio Hernández Castellanos   +1 more
core   +1 more source

Enfermedad renal crónica y olfato

Nefrología, 2020
Resumen: Las alteraciones en el sentido del olfato (disosmia, anosmia, hiposmia) son frecuentes en los pacientes con enfermedad renal crónica; sin embargo, hasta el momento actual las causas, consecuencias y tratamiento de estas alteraciones han sido poco abordadas.
M. Ludivina Robles-Osorio, Rebeca Corona, Teresa Morales, Ernesto Sabath   +3 more
openaire   +2 more sources

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

The Binding of Fibroblast Growth Factor 23 (FGF23) to FGF Receptor‐αKlotho Complex Increases Sinoatrial Electrical Activity

Acta Physiologica, Volume 242, Issue 10, October 2026.
ABSTRACT Aim This study aims to investigate whether the Fibroblast Growth Factor 23 (FGF23) modulates the electrical activity of sinoatrial (SAN) cells. The canonical function of FGF23 is to regulate body phosphorus and calcium homeostasis by activating the FGF1 receptors (FGFR1)/α‐Klotho complex in the kidney and parathyroid glands.
Giorgia Bertoli, Patrizia Benzoni, Serena Canzolino, David Molla, Raffaella Milanesi, Chiara Piantoni, Makoto Kuro‐o, Carmen Delgado, Gema Ruiz‐Hurtado, Mirko Baruscotti, Annalisa Bucchi   +10 more
wiley   +1 more source

Leisure‐Time Physical Activity on Age‐Modelled Trajectories of Body Mass Index and Obesity Risk Throughout Life: Multivariable Regression and Mendelian Randomization Analyses Using Electronic Health Record Data From the CORDELIA‐Catalunya Study

Diabetes, Obesity and Metabolism, Volume 28, Issue 10, Page 8925-8935, October 2026.
ABSTRACT Aims To assess whether self‐reported leisure‐time physical activity, moderate‐to‐vigorous leisure‐time physical activity, and genetically determined cardiorespiratory fitness are associated with age‐related BMI trajectories and incident obesity. Methods We pooled 14 993 adults (30–90 years; 52.7% women; cohorts: REGICOR‐ACRISC, ILERVAS, ARTPER)
Javier Hernando‐Redondo, Anna Camps‐Vilaró, Roberto Elosua, Eleonora Fornara, Marcelino Bermúdez‐López, Pere Torán‐Monserrat, Ainara Jiménez‐Navarro, José M. Valdivielso, Víctor M. López‐Lifante, Tomàs Salas‐Fernández, Serafí Cambray, Raquel Cruz, Jaume Marrugat, Álvaro Hernáez   +13 more
wiley   +1 more source