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

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.868891/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/48789212a11540bc9e817a0526e34302Test

المؤلفون: Mauricio Gomes Pio, Ezequiela Adrover, Mirta B. Miras, Gabriela Sobrero, Maricel F. Molina, Karen G. Scheps, Carina M. Rivolta, Héctor M. Targovnik

المصدر: Molecular and Cellular Endocrinology. 572:111948

مصطلحات موضوعية: Endocrinology, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::446b8d8194cf51f5e9c82c49ade5a682Test
https://doi.org/10.1016/j.mce.2023.111948Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9172eddb540ebed457d1fba818d3f123Test
https://doi.org/10.1210/clinem/dgab283Test

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

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, congenital hypothyroidism, iodide transport defect, sodium/iodide symporter, pathogenic synonymous variant, pre-mRNA splicing defect

العلاقة: https://figshare.com/articles/dataset/DataSheet_1_Silent_but_Not_Harmless_A_Synonymous_SLC5A5_Gene_Variant_Leading_to_Dyshormonogenic_Congenital_Hypothyroidism_pdf/19702813Test

الإتاحة: https://doi.org/10.3389/fendo.2022.868891.s001Test
https://figshare.com/articles/dataset/DataSheet_1_Silent_but_Not_Harmless_A_Synonymous_SLC5A5_Gene_Variant_Leading_to_Dyshormonogenic_Congenital_Hypothyroidism_pdf/19702813Test

المؤلفون: Mariano Martín (10585582), Carlos Pablo Modenutti (10585585), Mauco Lucas Gil Rosas (10585586), Victoria Peyret (10585588), Romina Celeste Geysels (10585592), Carlos Eduardo Bernal Barquero (10585595), Gabriela Sobrero (10585599), Liliana Muñoz (10585600), Malvina Signorino (10585601), Graciela Testa (10585603), Mirta Beatriz Miras (10585605), Ana María Masini-Repiso (10585608), Nora Beatriz Calcaterra (10585610), Gabriela Coux (10585611), Nancy Carrasco (10585614), Marcelo Adrián Martí (10585616), Juan Nicola (10585490)

مصطلحات موضوعية: Endocrinology, Dyshormonogenic Congenital Hypothyroidism, Iodide Transport Defect, Sodium/Iodide Symporter, Tryptophan-acidic motif, Kinesin Light Chain 2, Impaired Transport to the Plasma Membrane

العلاقة: https://figshare.com/articles/figure/Supplemental_material_for_A_Novel_SLC5A5_Variant_Reveals_the_Crucial_Role_of_Kinesin_Light_Chain_2_in_Thyroid_Hormonogenesis/14401874Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14401874.v2Test

المؤلفون: Silvia Martin, Daniela Dichko, Cecilia Aguirre, Sebastián Bulacio, Mirta Miras, Gabriela Sobrero, Liliana Silvano, Liliana Franchioni de Muñoz, Laura Castro

المصدر: Revista Argentina de Endocrinología y Metabolismo. 54:151-159

مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e85368eefdea3795df1566b8f69261b2Test
https://doi.org/10.1016/j.raem.2017.08.001Test

المؤلفون: Carina M. Rivolta, Cintia E. Citterio, Gabriela Sobrero, Graciela Testa, Mirta Miras, Fiorella Sabrina Belforte, Héctor M. Targovnik, María Cecilia Olcese

المصدر: Molecular and Cellular Endocrinology. 419:172-184

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, CIENCIAS MÉDICAS Y DE LA SALUD, Mutant, Thyroid Gland, Genética Humana, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Compound heterozygosity, Biochemistry, Duox2 Gene, Cryptic Splice Site, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, Congenital Hypothyroidism, medicine, Humans, Child, Molecular Biology, Polymorphism, Single-Stranded Conformational, Genetics, Mutation, Splice site mutation, Intron, NADPH Oxidases, Sequence Analysis, DNA, Dual Oxidases, Molecular biology, Pedigree, Compound Heterozygous Mutations, Medicina Básica, 030104 developmental biology, RNA splicing, RNA Splice Sites, HeLa Cells, Minigene

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5c0f0eb8d8546ae67f020d06145e78Test
https://doi.org/10.1016/j.mce.2015.10.014Test

المؤلفون: Ana Chiesa, Rogelio González-Sarmiento, Héctor M. Targovnik, Patricia Papendieck, Sofia Siffo, Mirta Miras, Viviana Balbi, Elena Bueno Martinez, Verónica González, Cintia E. Citterio, Gabriela Sobrero, Jacques Weill, Ezequiela Adrover, Carina M. Rivolta

المساهمون: Fondo Nacional de Desarrollo Científico y Tecnológico (Chile), Fondo para la Investigación Científica y Tecnológica (Argentina), Agencia Nacional de Promoción Científica y Tecnológica (Argentina), Ministerio de Ciencia, Tecnología e Innovación Productiva (Argentina), Universidad de Buenos Aires

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_treatment, DNA Mutational Analysis, Ciencias de la Salud, Gene mutation, Compound heterozygosity, medicine.disease_cause, Biochemistry, Thyroglobulin gene, 0302 clinical medicine, Endocrinology, Thyroid dyshormonogenesis, Gene Frequency, Chromosome Segregation, Missense mutation, Child, Mutation, Goiter, Pedigree, Child, Preschool, purl.org/becyt/ford/3 [https], Female, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, 030209 endocrinology & metabolism, Biology, Thyroglobulin, 03 medical and health sciences, purl.org/becyt/ford/3.3 [https], Hypothyroidism, medicine, Congenital Hypothyroidism, Humans, Family, Genetic Predisposition to Disease, Amino Acid Sequence, Allele, Molecular Biology, Salud Ocupacional, Base Sequence, Genetic heterogeneity, Truncated thyroglobulin protein, Infant, Newborn, medicine.disease, Molecular biology, 030104 developmental biology, Haplotypes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f3758bd41cd7f7fe05e36e4e8ccd32Test
http://hdl.handle.net/10261/245013Test

المؤلفون: Carina M. Rivolta, María Cecilia Olcese, Rogelio González-Sarmiento, Mirta Miras, Graciela Testa, Liliana Muñoz, Héctor M. Targovnik, Gabriela Sobrero, Laura Gruñeiro-Papendieck, Fiorella Sabrina Belforte, Ana Chiesa

المصدر: Clinical Endocrinology. 76:568-576

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Mutation, biology, Genetic heterogeneity, Endocrinology, Diabetes and Metabolism, Thyroid, Primary hypothyroidism, medicine.disease, Compound heterozygosity, medicine.disease_cause, Molecular biology, Congenital hypothyroidism, Endocrinology, medicine.anatomical_structure, Thyroid peroxidase, Internal medicine, medicine, biology.protein, Missense mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::77daa143fb1550bd736ad4323248bb02Test
https://doi.org/10.1111/j.1365-2265.2011.04249.xTest

المؤلفون: Gabriela Sobrero, Juan Pablo Nicola, Caroline Serrano-Nascimento, Mirta Miras, Maria Tereza Nunes, Francemilson Goulart-Silva, Magalí Nazar, Graciela Testa, Ana María Masini-Repiso, Liliana Muñoz

المصدر: The Journal of Clinical Endocrinology & Metabolism. 96:E1100-E1107

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Goiter, Five prime untranslated region, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), medicine.disease_cause, Biochemistry, Endocrinology, Internal medicine, Congenital Hypothyroidism, medicine, Humans, health care economics and organizations, Mutation, Symporters, Transition (genetics), Chemistry, Biochemistry (medical), Thyroid, Infant, Newborn, medicine.disease, Congenital hypothyroidism, medicine.anatomical_structure, Symporter, 5' Untranslated Regions

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881f18c97a806d822f4eb86c17c4b2aaTest
https://doi.org/10.1210/jc.2011-0349Test