المؤلفون: Romina Celeste Geysels, Carlos Eduardo Bernal Barquero, Mariano Martín, Victoria Peyret, Martina Nocent, Gabriela Sobrero, Liliana Muñoz, Malvina Signorino, Graciela Testa, Ricardo Belisario Castro, Ana María Masini-Repiso, Mirta Beatriz Miras, Juan Pablo Nicola

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: congenital hypothyroidism, iodide transport defect, sodium/iodide symporter, pathogenic synonymous variant, pre-mRNA splicing defect, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.868891/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/48789212a11540bc9e817a0526e34302

المؤلفون: Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Virginie Jacques, Gerardo Hernán Carro, Mariano Martín, Victoria Peyret, María Celeste Abregú, Patricia Papendieck, Ana María Masini-Repiso, Frédérique Savagner, Ana Elena Chiesa, Cintia E. Citterio, Juan Pablo Nicola

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 16, p 9251 (2022)

مصطلحات موضوعية: congenital hypothyroidism, thyroid dyshormonogenesis, iodide transport defect, sodium iodide symporter, thyroglobulin, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/16/9251; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/5a46d9aff5fe4eabb00b055f6f692a36

المؤلفون: Carlos P. Modenutti, Ana María Masini-Repiso, Victoria Peyret, Gabriela Coux, Liliana Muñoz, Juan Pablo Nicola, Mariano Martín, Mirta Miras, Mauco Lucas Gil Rosas, Nora B. Calcaterra, Nancy Carrasco, Romina Celeste Geysels, Graciela Testa, Gabriela Sobrero, Carlos Eduardo Bernal Barquero, Marcelo A. Martí, Malvina Signorino

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Male, Sodium-iodide symporter, Thyroid Hormones, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Mutation, Missense, Thyroid Gland, Kinesins, Context (language use), Biochemistry, Endocrinology, Internal medicine, Congenital Hypothyroidism, medicine, Animals, Humans, Missense mutation, health care economics and organizations, Clinical Research Articles, Gene knockdown, Symporters, Chemistry, Biochemistry (medical), Thyroid, Infant, Newborn, Iodides, medicine.disease, Molecular biology, Rats, Congenital hypothyroidism, Gene expression profiling, Phenotype, medicine.anatomical_structure, Symporter, Microtubule-Associated Proteins, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9172eddb540ebed457d1fba818d3f123
https://doi.org/10.1210/clinem/dgab283

المؤلفون: Ana Chiesa, Patricia Papendieck, Ana María Masini-Repiso, Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Juan Pablo Nicola, Mariano Martín, Victoria Peyret

المصدر: Thyroid.

مصطلحات موضوعية: Sodium-iodide symporter, Symporters, Chemistry, Endocrinology, Diabetes and Metabolism, Cell Membrane, Thyroid, Thyroid Gland, Intron, Molecular biology, Follicular cell, Exon, Endocrinology, medicine.anatomical_structure, Symporter, RNA splicing, Congenital Hypothyroidism, medicine, Humans, health care economics and organizations, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0627ae01ac287ae453296d90ba96f9eb
https://doi.org/10.1089/thy.2021.0344

المؤلفون: Lisa Salleron, Carlos Eduardo Bernal Barquero, Mariano Martín, Juan Pablo Nicola, Victoria Peyret, Thierry Pourcher, Romina Celeste Geysels, Elisabeth Darrouzet, Sabine Lindenthal, Ana María Masini-Repiso

المساهمون: Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Centro de Investigaciones en Bioquímica Clínica e Inmunología [Córdoba] (CIBICI), Consejo Nacional de Investigaciones Científicas y Técnicas [Buenos Aires] (CONICET)-Facultad de Ciencias Químicas [Córdoba], Universidad Nacional de Córdoba [Argentina]-Universidad Nacional de Córdoba [Argentina], Transporteurs et Imagerie, Radiothérapie en Oncologie et Mécanismes biologiques des Altérations du Tissu Osseux (TIRO-MATOs - UMR E4320), UMR E4320 (TIRO-MATOs), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Côte d'Azur (UCA)-Service Hospitalier Frédéric Joliot (SHFJ), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, BioEnergie et Environnement (BEE), Laboratoire de Chimie et Biologie des Métaux (LCBM - UMR 5249), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)

المصدر: FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2021, 35 (8), pp.e21681. ⟨10.1096/fj.202100303R⟩

مصطلحات موضوعية: Models, Molecular, Thyroid Gland, PDZ Domains, Biochemistry, Protein Structure, Secondary, Madin Darby Canine Kidney Cells, 0302 clinical medicine, Conserved Sequence, health care economics and organizations, 0303 health sciences, Symporters, Chemistry, PDZ-binding motif, iodide transport defect, Basolateral plasma membrane, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, Cell biology, Codon, Nonsense, 030220 oncology & carcinogenesis, sodium/iodide symporter (NIS), Biotechnology, SCRIB, Sodium-iodide symporter, Endosome, Recombinant Fusion Proteins, PDZ domain, PDZ domain-containing protein SCRIB, [SDV.CAN]Life Sciences [q-bio]/Cancer, Endosomes, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Follicular cell, Cell Line, 03 medical and health sciences, Dogs, Congenital Hypothyroidism, Genetics, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Amino Acid Sequence, dyshormonogenic congenital hypothyroidism, Iodide transport, Molecular Biology, 030304 developmental biology, Tumor Suppressor Proteins, Cell Membrane, Membrane Proteins, Rats, HEK293 Cells, Symporter, Mutagenesis, Site-Directed, Lysosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6fae1f075c7c3d6fe7a036a15fea1a
https://doi.org/10.1096/fj.202100303r

المؤلفون: Carlos Eduardo Bernal Barquero, Victoria Peyret, Juan Pablo Nicola, Ana María Masini-Repiso, Romina Celeste Geysels, Mariano Martín

المصدر: Journal of the Endocrine Society
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: 0301 basic medicine, Thyroid nodules, endocrine system, endocrine system diseases, Endocrinology, Diabetes and Metabolism, differentiated thyroid cancer, 030209 endocrinology & metabolism, DIFFERENTIATED THYROID CANCER, Follicular cell, purl.org/becyt/ford/1 [https], Thyroid carcinoma, 03 medical and health sciences, 0302 clinical medicine, I2 DEFICIENCY DISORDERS, NA+/I2 SYMPORTER, medicine, purl.org/becyt/ford/1.6 [https], Thyroid cancer, health care economics and organizations, Thyroid, I2 TRANSPORT DEFECT, Chemistry, congenital hypothyroidism, radioiodine therapy, Mini-Review, RADIOIODINE THERAPY, medicine.disease, I− deficiency disorders, CONGENITAL HYPOTHYROIDISM, Congenital hypothyroidism, 030104 developmental biology, medicine.anatomical_structure, Symporter, I− transport defect, Cancer research, Immunohistochemistry, Na+/I− symporter

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8864927304aeda83eaf48e872e3ab39c
http://europepmc.org/articles/PMC6316985

المؤلفون: Pasquale Vito, Mariano Martín, Carla Reale, Romina Celeste Geysels, Victoria Peyret, Lucas Miranda, Carlos Eduardo Bernal Barquero, Juan Pablo Nicola, Ana María Masini-Repiso, Marcelo A. Martí, Magalí Nazar

المصدر: Thyroid : official journal of the American Thyroid Association. 31(2)

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Regulator, Thyroid Gland, Thyrotropin, 030209 endocrinology & metabolism, Biology, Cell Line, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Gene expression, medicine, Animals, p300-CBP Transcription Factors, Phosphorylation, Transcription factor, Cell survival, Protein Kinase C, Mice, Knockout, Thyroid, Intracellular Signaling Peptides and Proteins, Transcription Factor RelA, NF-κB, Acetylation, Cell Differentiation, MAP Kinase Kinase Kinases, Cyclic AMP-Dependent Protein Kinases, Rats, Inbred F344, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Cancer research, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7b3c752b77d156b6878a71e9c1db17f
https://pubmed.ncbi.nlm.nih.gov/32935630

المؤلفون: Luciano Rossich, Leonardo Salvarredi, Mario A. Pisarev, Ana María Masini-Repiso, Lisa Thomasz, Magalí Nazar, Daniel Christophe, Juan Pablo Nicola, Guillermo Juvenal, Christiane Christophe-Hobertus

المصدر: Molecular and Cellular Endocrinology. 437:292-301

مصطلحات موضوعية: 0301 basic medicine, Thyroid Hormones, endocrine system, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Transcription, Genetic, endocrine system diseases, Iodide, Thyroid Gland, Inmunología, Physiology, Deoxyglucose, Biochemistry, WOLFF-CHAIKOFF EFFECT, Calcium in biology, Cell Line, 03 medical and health sciences, Endocrinology, THYROID, Transcription (biology), Thyroid peroxidase, Internal medicine, 2-IODOHEXADECANAL, medicine, Animals, Autoregulation, Promoter Regions, Genetic, Molecular Biology, chemistry.chemical_classification, Aldehydes, Thyroid hormone receptor, biology, Chemistry, Thyroid, Hydrogen Peroxide, Iodides, Rats, Medicina Básica, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Organ Specificity, biology.protein, Calcium, IODIDE EXCESS, Thyroid function, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a773637d9176e34bad598119c21ed732
https://doi.org/10.1016/j.mce.2016.08.036

المؤلفون: Victoria Peyret, Patricia Papendieck, Juan Pablo Nicola, Mariano Martín, Romina Celeste Geysels, Ana Chiesa, Carlos Eduardo Bernal Barquero, Ana María Masini-Repiso

المصدر: Thyroid : official journal of the American Thyroid Association. 29(7)

مصطلحات موضوعية: Sodium-iodide symporter, Heterozygote, Adolescent, Endocrinology, Diabetes and Metabolism, Thyrotropin, 030209 endocrinology & metabolism, Biology, Compound heterozygosity, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Neonatal Screening, medicine, Congenital Hypothyroidism, Missense mutation, Humans, Sanger sequencing, Symporters, Thyroid, Infant, Newborn, Basolateral plasma membrane, medicine.disease, Molecular biology, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Child, Preschool, Symporter, symbols, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd22fc012e61d256e78e83cd22c45200
https://pubmed.ncbi.nlm.nih.gov/31115276

المؤلفون: Mariano Martín, Carlos P. Modenutti, Thierry Pourcher, Victoria Peyret, Ana María Masini-Repiso, Juan Pablo Nicola, Romina Celeste Geysels, Elisabeth Darrouzet, Nancy Carrasco, Marcelo A. Martí

المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Amino Acid Motifs, 030209 endocrinology & metabolism, Clathrin, Thyroid carcinoma, purl.org/becyt/ford/1 [https], 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Leucine, Internal medicine, medicine, Animals, Humans, Amino Acid Sequence, Thyroid Neoplasms, purl.org/becyt/ford/1.6 [https], Thyroid cancer, Research Articles, health care economics and organizations, Symporters, biology, Chemistry, Cell Membrane, Thyroid, Biological Transport, Basolateral plasma membrane, Iodides, Membrane transport, medicine.disease, Rats, Cell biology, Transport protein, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, Symporter, biology.protein, Sequence Alignment

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ad29577b23864bd36e988c6f31f78f5
https://pubmed.ncbi.nlm.nih.gov/30496374/