Search Results - "Gil‐Peña, Helena"

Incomplete distal renal tubular acidosis in children by Alonso‐Varela, Marta, Gil‐Peña, Helena, Santos, Fernando

“…Aim To describe incomplete distal renal tubular acidosis (iDRTA) in paediatric patients, a term used for the diagnosis of patients who do not develop…”
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Urinary ammonium: Paediatric reference values by Cardo, Leire, Gil‐Peña, Helena, Álvarez, Francisco V., Santos, Fernando

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Renal tubular acidosis by Santos, Fernando, Gil-Peña, Helena, Alvarez-Alvarez, Silvia

“…To facilitate the understanding and knowledge of renal tubular acidosis by providing a summarized information on the known clinical and biochemical…”
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Systemic Jak1 activation causes extrarenal calcitriol production and skeletal alterations provoking stunted growth by Fuente, Rocío, Gehring, Nicole, Bettoni, Carla, Gil‐Peña, Helena, Alonso‐Durán, Laura, Michalke, Bernhard, Santos, Fernando, Wagner, Carsten A., Rubio‐Aliaga, Isabel

“…Mineral homeostasis is regulated by a complex network involving endocrine actions by calcitriol, parathyroid hormone (PTH), and FGF23 on several organs…”
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Renal Tubular Acidosis by Gil-Peña, Helena, PhD, Mejía, Natalia, MD, Santos, Fernando, MD, PhD

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RANKL, but Not R-Spondins, Is Involved in Vascular Smooth Muscle Cell Calcification through LGR4 Interaction by Fernández-Villabrille, Sara, Martín-Vírgala, Julia, Martín-Carro, Beatriz, Baena-Huerta, Francisco, González-García, Nerea, Gil-Peña, Helena, Rodríguez-García, Minerva, Fernández-Gómez, Jesús María, Fernández-Martín, José Luis, Alonso-Montes, Cristina, Naves-Díaz, Manuel, Carrillo-López, Natalia, Panizo, Sara

“…Vascular calcification has a global health impact that is closely linked to bone loss. The Receptor Activator of Nuclear Factor Kappa B (RANK)/RANK ligand…”
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Chronic kidney disease induced by adenine: a suitable model of growth retardation in uremia by Claramunt, Débora, Gil-Peña, Helena, Fuente, Rocío, García-López, Enrique, Loredo, Vanessa, Hernández-Frías, Olaya, Ordoñez, Flor A, Rodríguez-Suárez, Julián, Santos, Fernando

“…Growth retardation is a major manifestation of chronic kidney disease (CKD) in pediatric patients. The involvement of the various pathogenic factors is…”
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Evaluation of urinary acidification in children: Clinical utility by Díaz-Anadón, Lucas, Cardo, Leire, Santos, Fernando, Gil-Peña, Helena

“…The kidney plays a fundamental role in acid-base homeostasis by reabsorbing the filtered bicarbonate and by generating new bicarbonate, to replace that…”
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Long-term complications of primary distal renal tubular acidosis by Santos, Fernando, Gil-Peña, Helena

“…The clinical manifestations of primary distal renal tubular acidosis usually begin in childhood, but the disease is caused by a genetic defect that persists…”
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Rapamycin induces growth retardation by disrupting angiogenesis in the growth plate by Álvarez-García, Óscar, García-López, Enrique, Loredo, Vanessa, Gil-Peña, Helena, Rodríguez-Suárez, Julián, Ordóñez, Flor Á., Carbajo-Pérez, Eduardo, Santos, Fernando

“…Rapamycin, a potent immunosuppressant used in renal transplantation, has been reported to impair longitudinal growth in experimental studies. Rapamycin is both…”
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry by Gil-Peña, Helena, Coto, Eliecer, Santos, Fernando, Espino, Mar, Cea Crespo, Jose Mª, Chantzopoulos, Giannis, Komianou, Filadelfia, Gómez, Juan, Alonso, Belén, Iglesias, Sara, Treard, Cyrielle, Vargas-Poussou, Rosa

“…Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis,…”
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Growth hormone improves growth retardation induced by rapamycin without blocking its antiproliferative and antiangiogenic effects on rat growth plate by Álvarez-García, Óscar, García-López, Enrique, Loredo, Vanessa, Gil-Peña, Helena, Mejía-Gaviria, Natalia, Rodríguez-Suárez, Julián, Ordóñez, Flor Á, Santos, Fernando

“…Rapamycin, an immunosuppressant agent used in renal transplantation with antitumoral properties, has been reported to impair longitudinal growth in young…”
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Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report by Mejia-Gaviria, Natalia, Gil-Peña, Helena, Coto, Eliecer, Pérez-Menéndez, Teresa M, Santos, Fernando

“…Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate…”
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SARS-CoV-2 Spike Protein in Intestinal Cells of a Patient with Coronavirus Disease 2019 Multisystem Inflammatory Syndrome by Mayordomo-Colunga, Juan, Vivanco-Allende, Ana, López-Alonso, Inés, López-Martínez, Cecilia, Fernández-Vega, Iván, Gil-Peña, Helena, Rey, Corsino

“…A previously healthy 12-year-old boy had severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related multisystem inflammatory syndrome (MIS-C) that…”
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The Interferon-induced transmembrane protein 3 gene (IFITM3) rs12252 C variant is associated with COVID-19 by Gómez, Juan, Albaiceta, Guillermo M., Cuesta-Llavona, Elías, García-Clemente, Marta, López-Larrea, Carlos, Amado-Rodríguez, Laura, López-Alonso, Inés, Melón, Santiago, Alvarez-Argüelles, Marta E., Gil-Peña, Helena, Vidal-Castiñeira, José R., Corte-Iglesias, Viviana, Saiz, María L., Alvarez, Victoria, Coto, Eliecer

“…•IFITM3 is implicated in the antiviral response.•IFITM3 rs12252 polymorphism has been associated with the outcome of viral infection.•We determined whether…”
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Kidney function in patients with primary distal renal tubular acidosis by Forero-Delgadillo, Jessica M., Gil-Peña, Helena, Alonso-Varela, Marta, Santos, Fernando

“…Background Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA)…”
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Hemoglobin Oviedo ( c.115A > G; p.T39A ): A Cause of Low Oxygen Saturation by Vega López, Luis, Medina, Alberto, Gil-Peña, Helena, Fonseca Mourelle, Ariana, Gutiérrez Martínez, Jose Ramón

“…We report a new low-affinity hemoglobinopathy (Hemoglobin Oviedo) in a family with isolated low oxygen saturation (89-92%) caused by a previously undescribed…”
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Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity by Cuesta-Llavona, Elías, Gómez, Juan, Albaiceta, Guillermo M., Amado-Rodríguez, Laura, García-Clemente, Marta, Gutiérrez-Rodríguez, José, López-Alonso, Inés, Hermida, Tamara, Enríquez, Ana I., Hernández-González, Cristina, Gil-Peña, Helena, Domínguez-Garrido, Elena, Pérez-Oliveira, Sergio, Alvarez, Victoria, López-Larrea, Carlos, Suarez-Alvarez, Beatriz, Tranche, Salvador, Jimeno-Demuth, Francisco J., Coto, Eliecer

“…The chemokine receptor CCR5 has been implicated in COVID-19. CCR5 and its ligands are overexpressed in patients. The pharmacological targeting of CCR5 would…”
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Transcriptomic clustering of critically ill COVID-19 patients by López-Martínez, Cecilia, Martín-Vicente, Paula, Gómez de Oña, Juan, López-Alonso, Inés, Gil-Peña, Helena, Cuesta-Llavona, Elías, Fernández-Rodríguez, Margarita, Crespo, Irene, Salgado Del Riego, Estefanía, Rodríguez-García, Raquel, Parra, Diego, Fernández, Javier, Rodríguez-Carrio, Javier, Jimeno-Demuth, Francisco José, Dávalos, Alberto, Chapado, Luis A, Coto, Eliecer, Albaiceta, Guillermo M, Amado-Rodríguez, Laura

“…Infections caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may cause a severe disease, termed coronavirus disease 2019 (COVID-19), with…”
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IGHG3 hinge length variation was associated with the risk of critical disease and death in a Spanish COVID-19 cohort by López-Martínez, Rocío, Albaiceta, Guillermo M., Amado-Rodríguez, Laura, Gómez, Juan, Cuesta-Llavona, Elías, García-Clemente, Marta, Hermida-Valverde, Tamara, Enríquez-Rodriguez, Ana I., Hernández-González, Cristina, Martínez-Borra, Jesús, López-Larrea, Carlos, Gil-Peña, Helena, Alvarez, Victoria, Coto, Eliecer

“…IgG3 would play an important role in the immune adaptive response against SARS-CoV-2, and low plasma levels might increase the risk of COVID-19 severity and…”
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