Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2023982069', 'doi': 'https://doi.org/10.1016/j.mce.2015.01.032', 'title': 'Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6', 'display_name': 'Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6', 'publication_year': 2015, 'publication_date': '2015-01-26', 'ids': {'openalex': 'https://openalex.org/W2023982069', 'doi': 'https://doi.org/10.1016/j.mce.2015.01.032', 'mag': '2023982069', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/25633667'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.mce.2015.01.032', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S191044671', 'display_name': 'Molecular and Cellular Endocrinology', 'issn_l': '0303-7207', 'issn': ['0303-7207', '1872-8057'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'green', 'oa_url': 'https://ri.conicet.gov.ar/bitstream/11336/18574/1/CONICET_Digital_Nro.22469.pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5022215512', 'display_name': 'Cintia E. Citterio', 'orcid': 'https://orcid.org/0000-0002-3547-5458'}, 'institutions': [{'id': 'https://openalex.org/I4210144290', 'display_name': 'Institute of Astronomy and Space Physics', 'ror': 'https://ror.org/03rq94151', 'country_code': 'AR', 'type': 'facility', 'lineage': ['https://openalex.org/I151201029', 'https://openalex.org/I24354313', 'https://openalex.org/I4210123736', 'https://openalex.org/I4210144290', 'https://openalex.org/I4387155568']}, {'id': 'https://openalex.org/I4210119967', 'display_name': 'Hospital de Clínicas "José de San Martín"', 'ror': 'https://ror.org/02hbrab76', 'country_code': 'AR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119967']}], 'countries': ['AR'], 'is_corresponding': False, 'raw_author_name': 'Cintia E Citterio', 'raw_affiliation_strings': ['Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.'], 'affiliations': [{'raw_affiliation_string': 'Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.', 'institution_ids': ['https://openalex.org/I4210144290', 'https://openalex.org/I4210119967']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5023203524', 'display_name': 'C.G.C. Ana Morales', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210119967', 'display_name': 'Hospital de Clínicas "José de San Martín"', 'ror': 'https://ror.org/02hbrab76', 'country_code': 'AR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119967']}, {'id': 'https://openalex.org/I4210144290', 'display_name': 'Institute of Astronomy and Space Physics', 'ror': 'https://ror.org/03rq94151', 'country_code': 'AR', 'type': 'facility', 'lineage': ['https://openalex.org/I151201029', 'https://openalex.org/I24354313', 'https://openalex.org/I4210123736', 'https://openalex.org/I4210144290', 'https://openalex.org/I4387155568']}], 'countries': ['AR'], 'is_corresponding': False, 'raw_author_name': 'Cecilia M Morales', 'raw_affiliation_strings': ['Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.'], 'affiliations': [{'raw_affiliation_string': 'Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.', 'institution_ids': ['https://openalex.org/I4210119967', 'https://openalex.org/I4210144290']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027313965', 'display_name': 'Pascal Reynier', 'orcid': 'https://orcid.org/0000-0003-0802-4608'}, 'institutions': [{'id': 'https://openalex.org/I4210112910', 'display_name': "Centre Hospitalier Universitaire d'Angers", 'ror': 'https://ror.org/0250ngj72', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210112910']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Natacha Bouhours-Nouet', 'raw_affiliation_strings': ['Unité Endocrinologie Diabétologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, 49933 Angers CEDEX 9, France.'], 'affiliations': [{'raw_affiliation_string': 'Unité Endocrinologie Diabétologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, 49933 Angers CEDEX 9, France.', 'institution_ids': ['https://openalex.org/I4210112910']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5080136732', 'display_name': 'Gloria A. Machiavelli', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210119967', 'display_name': 'Hospital de Clínicas "José de San Martín"', 'ror': 'https://ror.org/02hbrab76', 'country_code': 'AR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119967']}, {'id': 'https://openalex.org/I4210144290', 'display_name': 'Institute of Astronomy and Space Physics', 'ror': 'https://ror.org/03rq94151', 'country_code': 'AR', 'type': 'facility', 'lineage': ['https://openalex.org/I151201029', 'https://openalex.org/I24354313', 'https://openalex.org/I4210123736', 'https://openalex.org/I4210144290', 'https://openalex.org/I4387155568']}], 'countries': ['AR'], 'is_corresponding': False, 'raw_author_name': 'Gloria A Machiavelli', 'raw_affiliation_strings': ['Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.'], 'affiliations': [{'raw_affiliation_string': 'Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina.', 'institution_ids': ['https://openalex.org/I4210119967', 'https://openalex.org/I4210144290']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5011710763', 'display_name': 'Elena Bueno‐Martínez', 'orcid': 'https://orcid.org/0000-0003-4888-2885'}, 'institutions': [{'id': 'https://openalex.org/I184999862', 'display_name': 'Universidad de Salamanca', 'ror': 'https://ror.org/02f40zc51', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I184999862']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Elena Bueno', 'raw_affiliation_strings': ['Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España.'], 'affiliations': [{'raw_affiliation_string': 'Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España.', 'institution_ids': ['https://openalex.org/I184999862']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005413430', 'display_name': 'Frédérique Gatelais', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210112910', 'display_name': "Centre Hospitalier Universitaire d'Angers", 'ror': 'https://ror.org/0250ngj72', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210112910']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Frédérique Gatelais', 'raw_affiliation_strings': ['Unité Endocrinologie Diabétologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, 49933 Angers CEDEX 9, France.'], 'affiliations': [{'raw_affiliation_string': 'Unité Endocrinologie Diabétologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, 49933 Angers CEDEX 9, France.', 'institution_ids': ['https://openalex.org/I4210112910']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5086131799', 'display_name': 'Régis Coutant', 'orcid': 'https://orcid.org/0000-0002-6332-4243'}, 'institutions': [{'id': 'https://openalex.org/I4210112910', 'display_name': "Centre Hospitalier Universitaire d'Angers", 'ror': 'https://ror.org/0250ngj72', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210112910']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Regis Coutant', 'raw_affiliation_strings': ['Unité Endocrinologie Diabétologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, 49933 Angers CEDEX 9, France.'], 'affiliations': [{'raw_affiliation_string': 'Unité Endocrinologie Diabétologie Pédiatrique and Centre des Maladies Rares de la Réceptivité Hormonale, CHU-Angers, 49933 Angers CEDEX 9, France.', 'institution_ids': ['https://openalex.org/I4210112910']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5023232532', 'display_name': 'Rogelio González‐Sarmiento', 'orcid': 'https://orcid.org/0000-0002-2726-6795'}, 'institutions': [{'id': 'https://openalex.org/I184999862', 'display_name': 'Universidad de Salamanca', 'ror': 'https://ror.org/02f40zc51', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I184999862']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'Rogelio González-Sarmiento', 'raw_affiliation_strings': ['Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España.'], 'affiliations': [{'raw_affiliation_string': 'Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España.', 'institution_ids': ['https://openalex.org/I184999862']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5020281241', 'display_name': 'Carina M. Rivolta', 'orcid': 'https://orcid.org/0000-0001-9484-368X'}, 'institutions': [{'id': 'https://openalex.org/I151201029', 'display_name': 'Consejo Nacional de Investigaciones Científicas y Técnicas', 'ror': 'https://ror.org/03cqe8w59', 'country_code': 'AR', 'type': 'government', 'lineage': ['https://openalex.org/I151201029', 'https://openalex.org/I4210123736', 'https://openalex.org/I4387155568']}, {'id': 'https://openalex.org/I184999862', 'display_name': 'Universidad de Salamanca', 'ror': 'https://ror.org/02f40zc51', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I184999862']}, {'id': 'https://openalex.org/I4210119967', 'display_name': 'Hospital de Clínicas "José de San Martín"', 'ror': 'https://ror.org/02hbrab76', 'country_code': 'AR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119967']}], 'countries': ['AR', 'ES'], 'is_corresponding': False, 'raw_author_name': 'Carina M Rivolta', 'raw_affiliation_strings': ['Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina; Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España.'], 'affiliations': [{'raw_affiliation_string': 'Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina; Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España.', 'institution_ids': ['https://openalex.org/I151201029', 'https://openalex.org/I184999862', 'https://openalex.org/I4210119967']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5082707995', 'display_name': 'Héctor M. Targovnik', 'orcid': 'https://orcid.org/0000-0003-1945-2093'}, 'institutions': [{'id': 'https://openalex.org/I4210119967', 'display_name': 'Hospital de Clínicas "José de San Martín"', 'ror': 'https://ror.org/02hbrab76', 'country_code': 'AR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119967']}, {'id': 'https://openalex.org/I184999862', 'display_name': 'Universidad de Salamanca', 'ror': 'https://ror.org/02f40zc51', 'country_code': 'ES', 'type': 'education', 'lineage': ['https://openalex.org/I184999862']}, {'id': 'https://openalex.org/I151201029', 'display_name': 'Consejo Nacional de Investigaciones Científicas y Técnicas', 'ror': 'https://ror.org/03cqe8w59', 'country_code': 'AR', 'type': 'government', 'lineage': ['https://openalex.org/I151201029', 'https://openalex.org/I4210123736', 'https://openalex.org/I4387155568']}], 'countries': ['AR', 'ES'], 'is_corresponding': False, 'raw_author_name': 'Héctor M Targovnik', 'raw_affiliation_strings': ['Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina; Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España. Electronic address: [email protected].'], 'affiliations': [{'raw_affiliation_string': 'Laboratorio de Genética y Biología Molecular, Instituto de Inmunología, Genética y Metabolismo (INIGEM, CONICET-UBA), Hospital de Clínicas "José de San Martín", C1120AAR Buenos Aires, Argentina; Cátedra de Genética y Biología Molecular (FFyB-UBA), C1113AAD Buenos Aires, Argentina; Unidad de Medicina Molecular, Departamento de Medicina, Facultad de Medicina, Universidad de Salamanca, 37007 Salamanca, España. Electronic address: [email protected].', 'institution_ids': ['https://openalex.org/I4210119967', 'https://openalex.org/I184999862', 'https://openalex.org/I151201029']}]}], 'institution_assertions': [], 'countries_distinct_count': 3, 'institutions_distinct_count': 5, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3000, 'currency': 'USD', 'value_usd': 3000, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 1.306, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 12, 'citation_normalized_percentile': {'value': 0.828716, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 87, 'max': 88}, 'biblio': {'volume': '404', 'issue': None, 'first_page': '102', 'last_page': '112'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10293', 'display_name': 'Thyroid Disease and Hormone Regulation', 'score': 0.99, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10293', 'display_name': 'Thyroid Disease and Hormone Regulation', 'score': 0.99, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T10493', 'display_name': 'Molecular Mechanisms of Ion Channels Regulation', 'score': 0.9837, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10329', 'display_name': 'Management and Diagnosis of Thyroid Cancer', 'score': 0.9785, 'subfield': {'id': 'https://openalex.org/subfields/2712', 'display_name': 'Endocrinology, Diabetes and Metabolism'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/minigene', 'display_name': 'Minigene', 'score': 0.89682984}, {'id': 'https://openalex.org/keywords/compound-heterozygosity', 'display_name': 'Compound heterozygosity', 'score': 0.82848287}, {'id': 'https://openalex.org/keywords/splice-site-mutation', 'display_name': 'Splice site mutation', 'score': 0.6064074}, {'id': 'https://openalex.org/keywords/thyroid-hormone', 'display_name': 'Thyroid Hormone', 'score': 0.524916}, {'id': 'https://openalex.org/keywords/hypothyroidism', 'display_name': 'Hypothyroidism', 'score': 0.513858}], 'concepts': [{'id': 'https://openalex.org/C166342232', 'wikidata': 'https://www.wikidata.org/wiki/Q11936831', 'display_name': 'Minigene', 'level': 5, 'score': 0.89682984}, {'id': 'https://openalex.org/C12125453', 'wikidata': 'https://www.wikidata.org/wiki/Q5156837', 'display_name': 'Compound heterozygosity', 'level': 4, 'score': 0.82848287}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.71965516}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.63979584}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.61878896}, {'id': 'https://openalex.org/C54458228', 'wikidata': 'https://www.wikidata.org/wiki/Q237218', 'display_name': 'RNA splicing', 'level': 4, 'score': 0.6104394}, {'id': 'https://openalex.org/C62257209', 'wikidata': 'https://www.wikidata.org/wiki/Q5487490', 'display_name': 'Splice site mutation', 'level': 5, 'score': 0.6064074}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.6042881}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5885086}, {'id': 'https://openalex.org/C143065580', 'wikidata': 'https://www.wikidata.org/wiki/Q3285695', 'display_name': 'Mutant', 'level': 3, 'score': 0.56337184}, {'id': 'https://openalex.org/C94671646', 'wikidata': 'https://www.wikidata.org/wiki/Q207551', 'display_name': 'Intron', 'level': 3, 'score': 0.52309847}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.38265273}, {'id': 'https://openalex.org/C194583182', 'wikidata': 'https://www.wikidata.org/wiki/Q21114084', 'display_name': 'Alternative splicing', 'level': 4, 'score': 0.32647187}, {'id': 'https://openalex.org/C67705224', 'wikidata': 'https://www.wikidata.org/wiki/Q11053', 'display_name': 'RNA', 'level': 3, 'score': 0.08089706}], 'mesh': [{'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D003409', 'descriptor_name': 'Congenital Hypothyroidism', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006042', 'descriptor_name': 'Goiter', 'qualifier_ui': 'Q000151', 'qualifier_name': 'congenital', 'is_major_topic': True}, {'descriptor_ui': 'D006042', 'descriptor_name': 'Goiter', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020641', 'descriptor_name': 'Polymorphism, Single Nucleotide', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D022821', 'descriptor_name': 'RNA Splice Sites', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D013954', 'descriptor_name': 'Thyroglobulin', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019556', 'descriptor_name': 'COS Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002522', 'descriptor_name': 'Chlorocebus aethiops', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003409', 'descriptor_name': 'Congenital Hypothyroidism', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D003409', 'descriptor_name': 'Congenital Hypothyroidism', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D005091', 'descriptor_name': 'Exons', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006042', 'descriptor_name': 'Goiter', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006042', 'descriptor_name': 'Goiter', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D006367', 'descriptor_name': 'HeLa Cells', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006579', 'descriptor_name': 'Heterozygote', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013954', 'descriptor_name': 'Thyroglobulin', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013954', 'descriptor_name': 'Thyroglobulin', 'qualifier_ui': 'Q000097', 'qualifier_name': 'blood', 'is_major_topic': False}, {'descriptor_ui': 'D014744', 'descriptor_name': 'Vietnam', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 3, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1016/j.mce.2015.01.032', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S191044671', 'display_name': 'Molecular and Cellular Endocrinology', 'issn_l': '0303-7207', 'issn': ['0303-7207', '1872-8057'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'http://hdl.handle.net/11336/18574', 'pdf_url': 'https://ri.conicet.gov.ar/bitstream/11336/18574/1/CONICET_Digital_Nro.22469.pdf', 'source': {'id': 'https://openalex.org/S4306402455', 'display_name': 'CONICET Digital (CONICET)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I4210148385', 'host_organization_name': 'Biomedicine Research Institute of Buenos Aires - CONICET - Partner Institute of the Max Planck Society', 'host_organization_lineage': ['https://openalex.org/I4210148385'], 'host_organization_lineage_names': ['Biomedicine Research Institute of Buenos Aires - CONICET - Partner Institute of the Max Planck Society'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/25633667', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'http://hdl.handle.net/11336/18574', 'pdf_url': 'https://ri.conicet.gov.ar/bitstream/11336/18574/1/CONICET_Digital_Nro.22469.pdf', 'source': {'id': 'https://openalex.org/S4306402455', 'display_name': 'CONICET Digital (CONICET)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I4210148385', 'host_organization_name': 'Biomedicine Research Institute of Buenos Aires - CONICET - Partner Institute of the Max Planck Society', 'host_organization_lineage': ['https://openalex.org/I4210148385'], 'host_organization_lineage_names': ['Biomedicine Research Institute of Buenos Aires - CONICET - Partner Institute of the Max Planck Society'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'score': 0.54, 'display_name': 'Good health and well-being'}], 'grants': [{'funder': 'https://openalex.org/F4320321594', 'funder_display_name': 'Consejo Nacional de Investigaciones Científicas y Técnicas', 'award_id': '2012/112-201101-00091'}, {'funder': 'https://openalex.org/F4320323257', 'funder_display_name': 'Universidad de Buenos Aires', 'award_id': '20020100100594/2011'}], 'datasets': [], 'versions': [], 'referenced_works_count': 67, 'referenced_works': ['https://openalex.org/W1549277555', 'https://openalex.org/W1951523467', 'https://openalex.org/W1976625952', 'https://openalex.org/W1979287356', 'https://openalex.org/W1980842944', 'https://openalex.org/W1988576322', 'https://openalex.org/W1989280564', 'https://openalex.org/W1990217973', 'https://openalex.org/W1991402780', 'https://openalex.org/W1992131339', 'https://openalex.org/W1994042857', 'https://openalex.org/W1997593368', 'https://openalex.org/W1997920192', 'https://openalex.org/W2002687817', 'https://openalex.org/W2006099720', 'https://openalex.org/W2007037113', 'https://openalex.org/W2008407135', 'https://openalex.org/W2009408376', 'https://openalex.org/W2011707922', 'https://openalex.org/W2014193324', 'https://openalex.org/W2015202871', 'https://openalex.org/W2016190735', 'https://openalex.org/W2018978665', 'https://openalex.org/W2020928170', 'https://openalex.org/W2021589568', 'https://openalex.org/W2022538534', 'https://openalex.org/W2051405784', 'https://openalex.org/W2062029541', 'https://openalex.org/W2062216876', 'https://openalex.org/W2065793249', 'https://openalex.org/W2068371685', 'https://openalex.org/W2073190114', 'https://openalex.org/W2079854145', 'https://openalex.org/W2081878157', 'https://openalex.org/W2083795951', 'https://openalex.org/W2086237192', 'https://openalex.org/W2087510854', 'https://openalex.org/W2089661016', 'https://openalex.org/W2091460800', 'https://openalex.org/W2092424065', 'https://openalex.org/W2094949062', 'https://openalex.org/W2096387860', 'https://openalex.org/W2096936451', 'https://openalex.org/W2096975200', 'https://openalex.org/W2097789207', 'https://openalex.org/W2105393355', 'https://openalex.org/W2107648466', 'https://openalex.org/W2115149771', 'https://openalex.org/W2116911290', 'https://openalex.org/W2119338364', 'https://openalex.org/W2124288620', 'https://openalex.org/W2129349637', 'https://openalex.org/W2129957465', 'https://openalex.org/W2130525625', 'https://openalex.org/W2130890996', 'https://openalex.org/W2133021037', 'https://openalex.org/W2138796623', 'https://openalex.org/W2144164244', 'https://openalex.org/W2155124037', 'https://openalex.org/W2165954869', 'https://openalex.org/W2168919757', 'https://openalex.org/W2172012437', 'https://openalex.org/W2327955865', 'https://openalex.org/W3159014435', 'https://openalex.org/W4210267605', 'https://openalex.org/W4239055828', 'https://openalex.org/W4255037720'], 'related_works': ['https://openalex.org/W4256158217', 'https://openalex.org/W2150083385', 'https://openalex.org/W2109736541', 'https://openalex.org/W2108926484', 'https://openalex.org/W2073554211', 'https://openalex.org/W2046677216', 'https://openalex.org/W2037947380', 'https://openalex.org/W1999556527', 'https://openalex.org/W1842291769', 'https://openalex.org/W1786215651'], 'abstract_inverted_index': {'Several': [0], 'patients': [1], 'were': [2, 116, 203], 'identified': [3, 66], 'with': [4, 125, 192, 209], 'dyshormonogenesis': [5], 'caused': [6], 'by': [7, 54, 150], 'mutations': [8, 46, 72, 289], 'in': [9, 18, 47, 73, 207, 222, 249, 276, 294], 'the': [10, 33, 38, 67, 74, 77, 89, 122, 134, 139, 164, 193, 210, 223, 226, 263, 267, 277, 281, 295, 300], 'thyroglobulin': [11], '(TG)': [12], 'gene.': [13, 283], 'These': [14, 213], 'defects': [15], 'are': [16, 26], 'inherited': [17], 'an': [19], 'autosomal': [20], 'recessive': [21], 'manner': [22], 'and': [23, 58, 112, 127, 200, 205, 241], 'affected': [24, 53], 'individuals': [25], 'either': [27], 'homozygous': [28], 'or': [29, 147], 'compound': [30, 70], 'heterozygous': [31, 71], 'for': [32, 106], 'mutations.': [34], 'The': [35, 101, 171, 184, 231, 284], 'aim': [36], 'of': [37, 50, 61, 69, 81, 94, 133, 152, 163, 174, 181, 187, 225, 239, 254, 269, 280, 287, 302], 'present': [39], 'study': [40], 'was': [41, 103], 'to': [42, 159], 'identify': [43], 'new': [44, 271], 'TG': [45, 75, 282], 'a': [48, 82, 95, 153, 178, 250, 270], 'patient': [49], 'Vietnamese': [51], 'origin': [52], 'congenital': [55], 'hypothyroidism,': [56], 'goiter': [57], 'low': [59], 'levels': [60], 'serum': [62], 'TG.': [63], 'DNA': [64], 'sequencing': [65], 'presence': [68], 'gene:': [76], 'maternal': [78], 'mutation': [79, 92, 176, 233, 247, 265], 'consists': [80, 93], 'novel': [83, 96], 'c.745+1G>A': [84, 135, 232, 264], '(g.IVS6': [85], '+': [86, 99], '1G>A),': [87], 'whereas': [88, 245], 'hypothetical': [90], 'paternal': [91], 'c.7036+2T>A': [97, 175, 246], '(g.IVS40': [98], '2T>A).': [100], 'father': [102], 'not': [104], 'available': [105], 'segregation': [107], 'analysis.': [108], 'Ex-vivo': [109], 'splicing': [110, 146], 'assays': [111], 'subsequent': [113], 'RT-PCR': [114], 'analyses': [115, 214], 'performed': [117], 'on': [118], 'mRNA': [119], 'isolated': [120], 'from': [121], 'eukaryotic-cells': [123], 'transfected': [124], 'normal': [126], 'mutant': [128, 136, 218], 'expression': [129], 'vectors.': [130], 'Minigene': [131], 'analysis': [132, 173], 'showed': [137, 177], 'that': [138, 216, 262, 298], 'exon': [140, 166, 182, 278], '6': [141, 168, 279], 'is': [142], 'skipped': [143], 'during': [144], 'pre-mRNA': [145], 'partially': [148], 'included': [149], 'use': [151], 'cryptic': [154, 272], "5'": [155], 'splice': [156, 188, 228, 274], 'site': [157, 189, 275], 'located': [158], '55': [160], 'nucleotides': [161], 'upstream': [162], 'authentic': [165, 227], '6/intron': [167], 'junction': [169], 'site.': [170], 'functional': [172, 285], 'complete': [179], 'skipping': [180], '40.': [183], 'theoretical': [185], 'consequences': [186, 286], 'mutations,': [190], 'predicted': [191, 215], 'bioinformatics': [194], 'tool': [195], 'NNSplice,': [196], 'Fsplice,': [197], 'SPL,': [198], 'SPLM': [199], 'MaxEntScan': [201], 'programs': [202], 'investigated': [204], 'evaluated': [206], 'relation': [208], 'experimental': [211], 'evidence.': [212], 'both': [217], 'alleles': [219], 'would': [220], 'result': [221], 'abolition': [224], 'donor': [229, 273], 'sites.': [230], 'originates': [234], 'two': [235], 'putative': [236, 251], 'truncated': [237, 252], 'proteins': [238], '200': [240], '1142': [242], 'amino': [243, 256], 'acids,': [244], 'results': [248], 'protein': [253, 296], '2277': [255], 'acids.': [257], 'In': [258], 'conclusion,': [259], 'we': [260], 'show': [261], 'promotes': [266], 'activation': [268], 'these': [288], 'could': [290], 'be': [291], 'structural': [292], 'changes': [293], 'molecule': [297], 'alter': [299], 'biosynthesis': [301], 'thyroid': [303], 'hormones.': [304]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2023982069', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 5}, {'year': 2020, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 2}, {'year': 2017, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 1}], 'updated_date': '2024-09-17T15:27:57.466174', 'created_date': '2016-06-24'}