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  • Genomics and transcriptomics yields a system-level view of the biology of the pathogen Naegleria fowleri 
    Herman, Emily-K; Greninger, Alex; van-der-Giezen, Mark; Ginger, Michael-L; Ramírez-Macías, Inmaculada; Miller, Haylea-C; Morgan, Matthew-J; Tsaousis, Anastasios-D; Velle, Katrina; Vargova, Romana; Zahonova, Kristina; Najle, Sebastian-Rodrigo; MacIntyre, Georgina; Muller, Norbert; Wittwer, Mattias; Zysset-Burri, Denise-C; Elias, Marek; Slamovits, Claudio-H; Weirauch, Matthew-T; Fritz-Laylin, Lillian; Marciano-Cabral, Francine; Puzon, Geoffrey-J; Walsh, Tom; Chiu, Charles; Dacks, Joel-B (BMC, 2021-07)
    BACKGROUND: The opportunistic pathogen Naegleria fowleri establishes infection in the human brain, killing almost invariably within 2 weeks. The amoeba performs piece-meal ingestion, or trogocytosis, of brain material ...
  • Genotype of Null Polymorphisms in Genes GSTM1, GSTT1, CYP1A1, and CYP1A1*2A (rs4646903 T>C)/CYP1A1*2C (rs1048943 A>G) in Patients with Larynx Cancer in Southeast Spain 
    Sánchez-Siles, Mariano; Pelegrín-Hernández, Juan-Pablo; Hellín-Meseguer, Diego; Guerrero-Sánchez, Yolanda; Corno-Caparrós, Andrés; Cabezas-Herrera, Juan; Pastor-Quirante, Francisco; Fernández-Ruiz, Juan-Alberto; Aliaga-Sánchez, Alfonso; Lucero-Berdugo, Mayra; Camacho-Alonso, Fabio (MDPI, 2020-09)
    BACKGROUND: some types of cancer have been associated with the presence of single nucleotide polymorphisms (SNPs) of some genes that encode enzymes: glutathione-S transferase (GST), whose alteration leads to loss of function ...
  • Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy. 
    Aranda, Selena; Ribeiro-Constante, Juliana; Tristan-Noguero, Alba; Moreno-Ruiz, Nerea; Arenas, Concepción; Martínez-Calvo, Fernando-Francisco; Ibáñez-Mico, Salvador; Pena-Segura, José-Luis; Ramos-Fernández, José-Miguel; Moyano-Chicano, María-del-Carmen; Camino-Leon, Rafael; Soto-Insuga, Víctor; González-Alguacil, Elena; Valera-Davila, Carlos; Fernández-Jaen, Alberto; Plans, Laura; Camacho, Ana; Visa-Rene, Nuria; Martín-Tamayo-Blazquez, María-del-Pilar; Paredes-Carmona, Fernando; Martí-Carrera, Itxaso; Ginot-Julia, Guillem; Hernández-Fabian, Aranzazu; Tomás-Davi, Meritxell; Casadesus-Sánchez, Merce; Cuesta-Herraiz, Laura; Fuentes-Pita, Patricia; Bermejo-González, Teresa; O'Callaghan, Mar; Iglesias-Santa-Polonia, Federico-Felipe; Cazorla, María-Rosario; Ferrando-Lucas, María-Teresa; González-Meneses, Antonio; Sala-Coromina, Julia; Macaya, Alfons; Lasa-Aranzasti, Amaia; Cueto-González, Anna-M; Valera-Párraga, Francisca; Campistol-Plana, Jaume; Serrano, Mercedes; Alonso, Xenia; Valenzuela-Palafoll, María-Irene; Monteagudo, Eines; Alonso-Colmenero, Itziar; Sans-Capdevila, Oscar; Casals, Ferran; Cormand, Bru; García-Cazorla, Ángeles; Bayes, Alex; Mitjans, Marina (ELSEVIER, 2026-05)
    Synaptic Ras GTPase-Activating Protein 1 (SynGAP) is a key regulator of synaptic plasticity, neurodevelopment, and neuronal circuit function. It is encoded by the SYNGAP1 gene, in which de novo dominant pathogenic variants ...
  • Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment 
    Carcavilla, Atilano; Cambra, Ana; Santome, José-L; Seidel, Verónica; Cruz, Jaime; Alonso, Milagros; Pozo, Jesús; Valenzuela, Irene; Guillén-Navarro, Encarna; Santos-Simarro, Fernando; González-Casado, Isabel; Rodríguez, Amparo; Medrano, Constancio; López-Siguero, Juan-Pedro; Ezquieta, Begoña (MDPI, 2023-08)
    Molecular study has become an invaluable tool in the field of RASopathies. Treatment with recombinant human growth hormone is approved in Noonan syndrome but not in the other RASopathies. The aim of this study was to learn ...
  • Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain 
    Cuenca, Irene; Botella, Carmen; Moya-Quiles, María-Rosa; Jiménez-Coll, Víctor; Galián, José-Antonio; Martínez-Banaclocha, Helios; Muro-Pérez, Manuel; Minguela-Puras, Alfredo; Legaz, Isabel; Muro-Pérez, Manuel (MDPI, 2023-09)
    Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations ...
  • Genotyping not required for sustained effectiveness of long-acting cabotegravir plus rilpivirine: evidence from the RELATIVITY cohort. 
    Buzon, Luis; Bernardino, José-I; Galindo-Puerto, María-José; Martín-Torres, Juan; Alemán-Valls, María-Remedios; Torralba-González-de-Suso, Miguel; Díaz-de-Santiago, Alberto; Fanjul, Francisco; Rodríguez, Adrián; Cabello-Ubeda, Alfonso; Pedrero-Tome, Roberto; Crusells-Canales, María-José; Calzado-Isbert, Sonia; Aguilera-García, María; Hidalgo-Tenorio, Carmen; Morano, Luis; Vinuesa-García, David; de-Andres-David, Carlos; Bernal-Morell, Enrique; Martínez-Álvarez, Rosa-María; Cabello-Clotet, Noemi; Tiraboschi, Juan; Gimeno-García, Alejandra; Vivancos, María-Jesús; Troya, Jesús (LIPPINCOTT WILLIAMS & WILKINS, 2026-04)
    OBJECTIVES: Long-acting injectable cabotegravir and rilpivirine (LAI CAB+RPV) provides an alternative to daily therapy for people with HIV (PWH) with virologic suppression. Although genotypic testing is recommended before ...
  • GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant 
    Lamolda, Mar; Montes, Rosa; Simon, Iris; Perales, Sonia; Martínez-Navajas, Gonzalo; López-Onieva, Lourdes; Rios-Pelegrina, Rosa; García-del-Moral, Raimundo; Grinan-Lison, Carmen; Marchal, Juan-A; Lozano, María-Luisa; Ramos-Mejia, Veronica; Rivera, José; Bastida, Jose-M; Real, Pedro-J (ELSEVIER, 2019-12)
    Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare platelet disorder caused by mutations in RUNX1. We generated an iPSC line (GENYOi005-A) from a FPDMM patient with a non-previously reported ...
  • Geographical Variability in Mortality in Urban Areas: A Joint Analysis of 16 Causes of Death 
    Martínez-Beneito, Miguel-A; Vergara-Hernández, Carlos; Botella-Rocamora, Paloma; Corpas-Burgos, Francisca; Pérez-Panades, Jordi; Zurriaga, Oscar; Aldasoro, Elena; Borrell, Carme; Cabeza, Elena; Cirera-Suárez, Lluís; Delfrade-Osinaga, Josu; Fernández-Somoano, Ana; Gandarillas, Ana; Lorenzo-Ruano, Pedro-L; Mari-Dell'Olmo, Marc; Nolasco, Andreu; Prieto-Salceda, MDolores; Ramis, Rebeca; Rodríguez-Sanz, Maica; Sánchez-Villegas, Pablo (MDPI, 2021-06)
    The geographical distribution of mortality has frequently been studied. Nevertheless, those studies often consider isolated causes of death. In this work, we aim to study the geographical distribution of mortality in urban ...
  • Gestational Age-Specific Reference Ranges for the sFlt-1/PlGF Immunoassay Ratio in Twin Pregnancies 
    De-La-Calle, María; Delgado, Juan-L; Verlohren, Stefan; Escudero, Ana-Isabel; Bartha, José-L; Campillos, José-M; Aguaron-De-La-Cruz, Angel; Chantraine, Frederic; García-Hernández, José-angel; Herraiz, Ignacio; Llurba, Elisa; Kurka, Hedwig; Guo, Ge; Sillman, Johanna; Hund, Martín; Perales-Marin, Alfredo (KARGER, 2021-04)
    OBJECTIVE: Establish reference ranges for the Elecsys® soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) immunoassay ratio in twin pregnancies. METHODS: Data analyzed were from 3 prospective studies: ...
  • Gestión de casos: Análisis de costo eficiencia en continuidad de cuidados de Pacientes crónicos complejos 
    Roldán-Valcárcel, María-Dolores; Beteta-Fernández, Dolores; Iniesta-Alcázar, Javier; Navarro-Egea, Ana-Patricia; Pérez-Luján, Raquel (Universidad de Murcia Servicio de Publicaciones, 2023)
  • Gestión terapéutica con policomprimido CNIC al alta de un primer síndrome coronario agudo en España: el estudio PANDORA 
    Bravo-Amaro, Marisol; Marín, Francisco; Ruíz-de-Castroviejo, Joaquín; Méndez-Eirín, Elizabet; García-Bueno, Lourdes; Marzoa-Rivas, Raquel; Pérez-de-Isla, Leopoldo (Elsevier Espana S.L.U, 2024)
  • Giant intra-abdominal liposarcoma 
    Iglesias-Jorquera, Elena; Álvarez-Higueras, Francisco-Javier; Tomas-Pujante, Paula; Garre-Sánchez, Carmen (ARAN EDICIONES, S A, 2018)
    We report the case of a 67-year-old male with epigastric pain and weight loss during the last nine months. Physical examination revealed a hard palpable mass in the epi-mesogastrium. An abdominal ultrasound identified a ...
  • Giant umbilical hernia: Lazy M-Omega flap, a case report 
    Villamil, Vanesa; Girón-Vallejo, Óscar; Sánchez-Morote, Juana-María; Hernández-Bermejo, Juan-Pedro (AFRICAN FIELD EPIDEMIOLOGY NETWORK-AFENET, 2021-04-07)
    Umbilical hernia, one of the most frequent pathologies in pediatric surgical practice, is usually corrected with a relatively simple intervention, except in cases where there is a major defect, also called proboscoid hernia. ...
  • GIST is not all that it seems 
    López-Morales, Pedro; Ruiz-Marín, Miguel; Pastor-Pérez, Patricia; Giménez-Francés, Lara; Pagán-Muñoz, Inmaculada; Jiménez-Sánchez, Javier; Albarracín-Marín-Blázquez, Antonio (Arán Ediciones, 2023)
    We present a 41-year-old female who was admitted to our hospital with a history of 2-month epigastric pain and vomiting. Physical examination was normal. Upper gastrointestinal endoscopy showed a sessile submucosal tumor ...
  • GIVING BIRTH TO DEATH. Life professionals managing the bereavement 
    Hernández-Garre, José-Manuel; Sánchez-Sánchez, Francisca-Carmen; Echevarria-Pérez, Paloma (CONSEJO SUPERIOR INVESTIGACIONES CIENTIFICAS-CSIC, 2017-07)
  • Glaucoma and Antioxidants: Review and Update 
    García-Medina, José-Javier; Rubio-Velázquez, Elena; López-Bernal, María-Dolores; Cobo-Martínez, Alejandro; Zanón-Moreno, Vicente; Pinazo-Durán, María-Dolores; del-Río-Vellosillo, Mónica (MDPI, 2020-11)
    Glaucoma is a neurodegenerative disease characterised by the progressive degeneration of retinal ganglion cells. Oxidative stress has been related to the cell death in this disease. Theoretically, this deleterious consequence ...
  • Glaucomatous Maculopathy: Thickness Differences on Inner and Outer Macular Layers between Ocular Hypertension and Early Primary Open-Angle Glaucoma Using 8 x 8 Posterior Pole Algorithm of SD-OCT 
    García-Medina, José-Javier; del-Río-Vellosillo, Mónica; Palazón-Cabanes, Ana; Pinazo-Durán, María-Dolores; Zanón-Moreno, Vicente; Villegas-Pérez, María-Paz (MDPI, 2020-05)
    The purpose of this study was to compare the thickness of all inner and outer macular layers between ocular hypertension (OHT) and early primary open-angle glaucoma (POAG) using spectral domain optical coherence tomography ...
  • Glial Cell Activation and Oxidative Stress in Retinal Degeneration Induced by ?-Alanine Caused Taurine Depletion and Light Exposure 
    Martínez-Vacas, Ana; Di-Pierdomenico, Johnny; Valiente-Soriano, Francisco-Javier; Vidal-Sanz, Manuel; Picaud, Serge; Villegas-Pérez, María-Paz; García-Ayuso, Diego (MDPI, 2022-01)
    We investigate glial cell activation and oxidative stress induced by taurine deficiency secondary to ?-alanine administration and light exposure. Two months old Sprague-Dawley rats were divided into a control group and ...
  • Glioblastoma progression is assisted by induction of immunosuppressive function of pericytes through interaction with tumor cells 
    Valdor, Rut; García-Bernal, David; Bueno, Carlos; Ródenas, Mónica; Moraleda-Jiménez, José-María; Macian, Fernando; Martínez, Salvador (IMPACT JOURNALS LLC, 2017-09-15)
    The establishment of immune tolerance during Glioblastoma Multiforme (GBM) progression, is characterized by high levels expression of anti-inflammatory cytokines, which suppress the function of tumor assocciated myeloid ...
  • Global and Local Interpretable Machine Learning Allow Early Prediction of Unscheduled Hospital Readmission 
    Ruiz-de-San-Martín, Rafael; Morales-Hernández, Catalina; Barbera, Carmen; Martínez-Cortés, Carlos; Banegas-Luna, Antonio-Jesús; Segura-Méndez, Francisco-José; Pérez-Sánchez, Horacio; Morales-Moreno, Isabel; Hernández-Morante, Juan-José (MDPI, 2024-09)