Search Results - "Moreno, José C"

Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up by Carmona-Hidalgo, Beatriz, Herrera-Ramos, Estefanía, Rodríguez-López, Rocío, Nou-Fontanet, Laia, C Moreno, José, Blasco-Amaro, Juan Antonio, Léger, Juliane, Ortigoza-Escobar, Juan Darío

“…NKX2-1, a crucial transcription factor in thyroid, lung, and brain development, is associated with rare disorders featuring thyroid dysfunction, neurological…”
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IL-17-producing CD8+ T lymphocytes from psoriasis skin plaques are cytotoxic effector cells that secrete Th17-related cytokines by Ortega, Consuelo, Fernández‐A, Silvia, Carrillo, Juan M., Romero, Pilar, Molina, Ignacio J., Moreno, José C., Santamaría, Manuel

“…Lytic CD8+ T cells at the psoriasis plaque’s epidermis secrete IL‐17, IL‐21 and IL‐22 and depends on autocrine TNFalpha production. IL‐17‐producing CD4+ T…”
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Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis by Carmona-Hidalgo, Beatriz, Martín-Gómez, Carmen, Herrera-Ramos, Estefanía, Rodríguez-López, Rocío, Fontanet, Laia-Nou, Moreno, José C, Blasco-Amaro, Juan Antonio, Léger, Juliane, Dario-Ortigoza-Escobar, Juan

“…NKX2-1-related disorders (NKX2-1-RD) are rare conditions affecting lung, thyroid, and brain development, primarily caused by pathogenic variants or deletions…”
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Mutations in the Iodotyrosine Deiodinase Gene and Hypothyroidism by Moreno, José C, Klootwijk, Willem, van Toor, Hans, Pinto, Graziella, D'Alessandro, Mariella, Lèger, Aubène, Goudie, David, Polak, Michel, Grüters, Annette, Visser, Theo J

“…DEHAL1, the gene encoding iodotyrosine deiodinase in the thyroid, allows for the reuse of iodide for thyroid hormone synthesis. The authors identified four…”
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Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq by García, Marta, González de Buitrago, Jesús, Jiménez-Rosés, Mireia, Pardo, Leonardo, Hinkle, Patricia M., Moreno, José C.

“…Abstract Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of…”
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A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ by Villafuerte, Beatriz, Carrasco-López, Carlos, Herranz, Amanda, Garzón, Lucía, Simón, Rogelio, Natera-de-Benito, Daniel, Alikhani, Pouya, Tenorio, Jair, García-Santiago, Fe, Solis, Mario, Del-Pozo, Ángela, Lapunzina, Pablo, Ortigoza-Escobar, Juan Darío, Santisteban, Pilar, Moreno, José C

“…Brain-lung-thyroid syndrome (BLTS) is caused by haploinsufficiency, resulting in chorea/choreoathetosis, respiratory problems, and hypothyroidism. Genes…”
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Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase ( DEHAL1) gene mutations by Moreno, José C., Visser, Theo J.

“…Iodotyrosine deiodinase is a thyroidal enzyme that deiodinates mono- and di-iodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment,…”
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The metabolism and de-bromination of bromotyrosine in vivo by Mani, Ali R., Moreno, José C., Visser, Theo J., Moore, Kevin P.

“…During inflammation, leukocyte-derived eosinophil peroxidase catalyses the formation of hypobromous acid, which can brominate tyrosine residues in proteins to…”
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TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome by Moya, Christian M, Zaballos, Miguel A, Garzón, Lucía, Luna, Carmen, Simón, Rogelio, Yaffe, Michael B, Gallego, Elena, Santisteban, Pilar, Moreno, José C

“…Identification of a frameshift heterozygous mutation in the transcription factor NKX2-1 in a patient with brain-lung-thyroid syndrome (BLTS) and…”
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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways by García, Marta, Barrio, Raquel, García-Lavandeira, Montserrat, Garcia-Rendueles, Angela R., Escudero, Adela, Díaz-Rodríguez, Esther, Gorbenko Del Blanco, Darya, Fernández, Ana, de Rijke, Yolanda B., Vallespín, Elena, Nevado, Julián, Lapunzina, Pablo, Matre, Vilborg, Hinkle, Patricia M., Hokken-Koelega, Anita C. S., de Miguel, María P., Cameselle-Teijeiro, José Manuel, Nistal, Manuel, Alvarez, Clara V., Moreno, José C.

“…IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain…”
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Inactivating Mutations in the Gene for Thyroid Oxidase 2 (THOX2) and Congenital Hypothyroidism by Moreno, José C, Bikker, Hennie, Kempers, Marlies J.E, van Trotsenburg, A.S. Paul, Baas, Frank, de Vijlder, Jan J.M, Vulsma, Thomas, Ris-Stalpers, C

“…Untreated congenital hypothyroidism leads to severe developmental difficulties. The authors of this report sought to identify defects in the thyroid oxidase…”
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Autonomous collaborative mobile robot for greenhouses: Design, development, and validation tests by Cañadas-Aránega, Fernando, Moreno, José C., Blanco-Claraco, José L., Giménez, Antonio, Rodríguez, Francisco, Sánchez-Hermosilla, Julián

“…This paper describes the development of a mobile agricultural robot capable of performing high-capacity transport tasks within greenhouses in presence of…”
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Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population by de Randamie, Rajdee, Martos-Moreno, Gabriel Ángel, Lumbreras, César, Chueca, Maria, Donnay, Sergio, Luque, Manuel, Regojo, Rita María, Mendiola, Marta, Hardisson, David, Argente, Jesús, Moreno, José C

“…A genomic HABP2 variant was proposed to be responsible for familial nonmedullary thyroid carcinoma (FNMTC). However, its involvement has been questioned in…”
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The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency by Villafuerte, Beatriz, Natera-de-Benito, Daniel, González, Aidy, Mori, María A., Palomares, María, Nevado, Julián, García-Miñaur, Sixto, Lapunzina, Pablo, González-Granado, Luis I., Allende, Luis M., Moreno, José C.

“…Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to…”
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Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects by Iglesias, Ainhoa, MSc, García-Nimo, Laura, MSc, Cocho de Juan, José A., PhD, Moreno, José C., MD, PhD

“…DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment,…”
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Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X by García, Marta, Barreda-Bonis, Ana C, Jiménez, Paula, Rabanal, Ignacio, Ortiz, Arancha, Vallespín, Elena, del Pozo, Ángela, Martínez-San Millán, Juan, González-Casado, Isabel, Moreno, José C

“…Abstract Transducin β-like 1 X-linked (TBL1X) gene encodes a subunit of the nuclear corepressor-silencing mediator for retinoid and thyroid hormone receptor…”
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Insulin-secretion abnormalities and clinical deterioration related to impaired glucose tolerance in cystic fibrosis by Tofé, Santiago, Moreno, José C, Máiz, Luis, Alonso, Milagros, Escobar, Héctor, Barrio, Raquel

“…Objective: To evaluate insulin-secretion kinetics and insulin sensitivity in cystic fibrosis (CF) patients with normal glucose tolerance (CF-NGT), impaired…”
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The Metabolism and Dechlorination of Chlorotyrosine in Vivo by Mani, Ali R., Ippolito, Silvia, Moreno, José C., Visser, Theo J., Moore, Kevin P.

“…During inflammation, neutrophil- and monocyte-derived myeloperoxidase catalyzes the formation of hypochlorous acid, which can chlorinate tyrosine residues in…”
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Identification and determination of the urinary metabolite of iodotyrosine invivo by Ji, Cindy Xinyu, Zonias, Danae, Djumaeva, Nafisa, Cheng, Ranchu, Salim, Kawther, Alikhani, Pouya, Oyelade, Tope, Moore, Kevin P., Moreno, José C., Mani, Ali R.

“…Congenital hypothyroidism screening traditionally relies on detecting elevated thyroid-stimulating hormone levels, yet this approach may not detect a specific…”
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Central hypothyroidism in children by García, Marta, Fernández, Ana, Moreno, José C

“…Central congenital hypothyroidism (CCH) is an underdiagnosed disorder poorly described in childhood and adolescence. Congenital defects in thyroid-stimulating…”
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