DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

Name: Work Video:
Duration: 3 min 30 s
Veronica Nobile; C Pucci; Pietro Chiurazzi; Giovanni Neri; Elisabetta Tabolacci
{'id': 'https://openalex.org/W3130501390', 'doi': 'https://doi.org/10.3390/biom11020296', 'title': 'DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome', 'display_name': 'DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome', 'publication_year': 2021, 'publication_date': '2021-02-16', 'ids': {'openalex': 'https://openalex.org/W3130501390', 'doi': 'https://doi.org/10.3390/biom11020296', 'mag': '3130501390', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/33669384', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/7920310'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.3390/biom11020296', 'pdf_url': 'https://www.mdpi.com/2218-273X/11/2/296/pdf?version=1614001193', 'source': {'id': 'https://openalex.org/S4210236520', 'display_name': 'Biomolecules', 'issn_l': '2218-273X', 'issn': ['2218-273X'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310310987', 'host_organization_name': 'Multidisciplinary Digital Publishing Institute', 'host_organization_lineage': ['https://openalex.org/P4310310987'], 'host_organization_lineage_names': ['Multidisciplinary Digital Publishing Institute'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'doaj', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://www.mdpi.com/2218-273X/11/2/296/pdf?version=1614001193', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5051084815', 'display_name': 'Veronica Nobile', 'orcid': 'https://orcid.org/0000-0002-8013-2104'}, 'institutions': [{'id': 'https://openalex.org/I4210153126', 'display_name': 'Istituti di Ricovero e Cura a Carattere Scientifico', 'ror': 'https://ror.org/04tfzc498', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210153126']}, {'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Veronica Nobile', 'raw_affiliation_strings': ['Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy', 'institution_ids': ['https://openalex.org/I4210153126', 'https://openalex.org/I103320735']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5053577769', 'display_name': 'C Pucci', 'orcid': 'https://orcid.org/0000-0003-0263-7868'}, 'institutions': [{'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}, {'id': 'https://openalex.org/I4210153126', 'display_name': 'Istituti di Ricovero e Cura a Carattere Scientifico', 'ror': 'https://ror.org/04tfzc498', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Cecilia Pucci', 'raw_affiliation_strings': ['Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy', 'institution_ids': ['https://openalex.org/I103320735', 'https://openalex.org/I4210153126']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5024021695', 'display_name': 'Pietro Chiurazzi', 'orcid': 'https://orcid.org/0000-0001-5104-1521'}, 'institutions': [{'id': 'https://openalex.org/I2802557943', 'display_name': 'Agostino Gemelli University Polyclinic', 'ror': 'https://ror.org/00rg70c39', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802557943']}, {'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}, {'id': 'https://openalex.org/I4210153126', 'display_name': 'Istituti di Ricovero e Cura a Carattere Scientifico', 'ror': 'https://ror.org/04tfzc498', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': False, 'raw_author_name': 'Pietro Chiurazzi', 'raw_affiliation_strings': ['Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, 00168 Rome, Italy', 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, 00168 Rome, Italy', 'institution_ids': ['https://openalex.org/I2802557943', 'https://openalex.org/I4210153126']}, {'raw_affiliation_string': 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy', 'institution_ids': ['https://openalex.org/I103320735', 'https://openalex.org/I4210153126']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5003174745', 'display_name': 'Giovanni Neri', 'orcid': 'https://orcid.org/0000-0001-7642-0130'}, 'institutions': [{'id': 'https://openalex.org/I4210149064', 'display_name': 'Greenwood Genetic Center', 'ror': 'https://ror.org/03p64mj41', 'country_code': 'US', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I4210149064']}, {'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}, {'id': 'https://openalex.org/I4210153126', 'display_name': 'Istituti di Ricovero e Cura a Carattere Scientifico', 'ror': 'https://ror.org/04tfzc498', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210153126']}], 'countries': ['IT', 'US'], 'is_corresponding': False, 'raw_author_name': 'Giovanni Neri', 'raw_affiliation_strings': ['Greenwood Genetic Center, JC Self Research Institute, Greenwood, SC 29646, USA', 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Greenwood Genetic Center, JC Self Research Institute, Greenwood, SC 29646, USA', 'institution_ids': ['https://openalex.org/I4210149064']}, {'raw_affiliation_string': 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy', 'institution_ids': ['https://openalex.org/I103320735', 'https://openalex.org/I4210153126']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5050835352', 'display_name': 'Elisabetta Tabolacci', 'orcid': 'https://orcid.org/0000-0002-4707-2242'}, 'institutions': [{'id': 'https://openalex.org/I103320735', 'display_name': 'Università Cattolica del Sacro Cuore', 'ror': 'https://ror.org/03h7r5v07', 'country_code': 'IT', 'type': 'education', 'lineage': ['https://openalex.org/I103320735']}, {'id': 'https://openalex.org/I4210153126', 'display_name': 'Istituti di Ricovero e Cura a Carattere Scientifico', 'ror': 'https://ror.org/04tfzc498', 'country_code': 'IT', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210153126']}], 'countries': ['IT'], 'is_corresponding': True, 'raw_author_name': 'Elisabetta Tabolacci', 'raw_affiliation_strings': ['Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy'], 'affiliations': [{'raw_affiliation_string': 'Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy', 'institution_ids': ['https://openalex.org/I103320735', 'https://openalex.org/I4210153126']}]}], 'institution_assertions': [], 'countries_distinct_count': 2, 'institutions_distinct_count': 4, 'corresponding_author_ids': ['https://openalex.org/A5050835352'], 'corresponding_institution_ids': ['https://openalex.org/I103320735', 'https://openalex.org/I4210153126'], 'apc_list': {'value': 2100, 'currency': 'CHF', 'value_usd': 2273, 'provenance': 'doaj'}, 'apc_paid': {'value': 2100, 'currency': 'CHF', 'value_usd': 2273, 'provenance': 'doaj'}, 'fwci': 1.136, 'has_fulltext': False, 'cited_by_count': 28, 'citation_normalized_percentile': {'value': 0.999218, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '11', 'issue': '2', 'first_page': '296', 'last_page': '296'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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'}}, 'topics': [{'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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/T10269', 'display_name': 'Epigenetics and DNA Methylation', 'score': 0.9959, '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/T10106', 'display_name': 'Autism Spectrum Disorder Research', 'score': 0.9871, 'subfield': {'id': 'https://openalex.org/subfields/2805', 'display_name': 'Cognitive Neuroscience'}, 'field': {'id': 'https://openalex.org/fields/28', 'display_name': 'Neuroscience'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/fragile-x-syndrome', 'display_name': 'Fragile X Syndrome', 'score': 0.97786605}, {'id': 'https://openalex.org/keywords/fmr1', 'display_name': 'FMR1', 'score': 0.9579903}], 'concepts': [{'id': 'https://openalex.org/C2777630245', 'wikidata': 'https://www.wikidata.org/wiki/Q221472', 'display_name': 'Fragile X syndrome', 'level': 2, 'score': 0.97786605}, {'id': 'https://openalex.org/C2779063550', 'wikidata': 'https://www.wikidata.org/wiki/Q905435', 'display_name': 'FMR1', 'level': 4, 'score': 0.9579903}, {'id': 'https://openalex.org/C41091548', 'wikidata': 'https://www.wikidata.org/wiki/Q26939', 'display_name': 'Epigenetics', 'level': 3, 'score': 0.83606136}, {'id': 'https://openalex.org/C190727270', 'wikidata': 'https://www.wikidata.org/wiki/Q874745', 'display_name': 'DNA methylation', 'level': 4, 'score': 0.71112067}, {'id': 'https://openalex.org/C119056186', 'wikidata': 'https://www.wikidata.org/wiki/Q1431332', 'display_name': 'Gene silencing', 'level': 3, 'score': 0.6782887}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.616801}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.586162}, {'id': 'https://openalex.org/C551499885', 'wikidata': 'https://www.wikidata.org/wiki/Q183560', 'display_name': 'Intellectual disability', 'level': 2, 'score': 0.552456}, {'id': 'https://openalex.org/C33288867', 'wikidata': 'https://www.wikidata.org/wiki/Q518328', 'display_name': 'Methylation', 'level': 3, 'score': 0.49579248}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.4707302}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.42964742}, {'id': 'https://openalex.org/C205778803', 'wikidata': 'https://www.wikidata.org/wiki/Q38404', 'display_name': 'Autism', 'level': 2, 'score': 0.42690924}, {'id': 'https://openalex.org/C3020422209', 'wikidata': 'https://www.wikidata.org/wiki/Q221472', 'display_name': 'Fragile x', 'level': 3, 'score': 0.28624642}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.21070537}, {'id': 'https://openalex.org/C150194340', 'wikidata': 'https://www.wikidata.org/wiki/Q26972', 'display_name': 'Gene expression', 'level': 3, 'score': 0.14260098}, {'id': 'https://openalex.org/C118552586', 'wikidata': 'https://www.wikidata.org/wiki/Q7867', 'display_name': 'Psychiatry', 'level': 1, 'score': 0.14161602}], 'mesh': [{'descriptor_ui': 'D019175', 'descriptor_name': 'DNA Methylation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D044127', 'descriptor_name': 'Epigenesis, Genetic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D051860', 'descriptor_name': 'Fragile X Mental Retardation Protein', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000628', 'qualifier_name': 'therapy', 'is_major_topic': True}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020868', 'descriptor_name': 'Gene Silencing', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000818', 'descriptor_name': 'Animals', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D057890', 'descriptor_name': 'Epigenomics', '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': 'D051860', 'descriptor_name': 'Fragile X Mental Retardation Protein', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005600', 'descriptor_name': 'Fragile X Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020869', 'descriptor_name': 'Gene Expression Profiling', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005786', 'descriptor_name': 'Gene Expression Regulation', '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': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011401', 'descriptor_name': 'Promoter Regions, Genetic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014158', 'descriptor_name': 'Transcription, Genetic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019680', 'descriptor_name': 'Trinucleotide Repeat Expansion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 5, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.3390/biom11020296', 'pdf_url': 'https://www.mdpi.com/2218-273X/11/2/296/pdf?version=1614001193', 'source': {'id': 'https://openalex.org/S4210236520', 'display_name': 'Biomolecules', 'issn_l': '2218-273X', 'issn': ['2218-273X'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310310987', 'host_organization_name': 'Multidisciplinary Digital Publishing Institute', 'host_organization_lineage': ['https://openalex.org/P4310310987'], 'host_organization_lineage_names': ['Multidisciplinary Digital Publishing Institute'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://doaj.org/article/0c9b6f8a46984b66ae93b49480c4ada6', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306401280', 'display_name': 'DOAJ (DOAJ: Directory of Open Access Journals)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://hdl.handle.net/10807/224687', 'pdf_url': 'https://publicatt.unicatt.it/bitstream/10807/224687/1/biomolecules-11-00296-v2%20%281%29.pdf', 'source': {'id': 'https://openalex.org/S4306400564', 'display_name': 'PubliCatt (Università Cattolica del Sacro Cuore)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': None, 'host_organization_name': None, 'host_organization_lineage': [], 'host_organization_lineage_names': [], 'type': 'repository'}, 'license': 'other-oa', 'license_id': 'https://openalex.org/licenses/other-oa', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920310', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, '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': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/33669384', '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': 'https://doi.org/10.3390/biom11020296', 'pdf_url': 'https://www.mdpi.com/2218-273X/11/2/296/pdf?version=1614001193', 'source': {'id': 'https://openalex.org/S4210236520', 'display_name': 'Biomolecules', 'issn_l': '2218-273X', 'issn': ['2218-273X'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310310987', 'host_organization_name': 'Multidisciplinary Digital Publishing Institute', 'host_organization_lineage': ['https://openalex.org/P4310310987'], 'host_organization_lineage_names': ['Multidisciplinary Digital Publishing Institute'], 'type': 'journal'}, 'license': 'cc-by', 'license_id': 'https://openalex.org/licenses/cc-by', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [], 'grants': [{'funder': 'https://openalex.org/F4320321873', 'funder_display_name': 'Ministero dell’Istruzione, dell’Università e della Ricerca', 'award_id': 'Prot. 201789LFKB'}, {'funder': 'https://openalex.org/F4320321873', 'funder_display_name': 'Ministero dell’Istruzione, dell’Università e della Ricerca', 'award_id': 'University Grant D.1'}], 'datasets': [], 'versions': [], 'referenced_works_count': 108, 'referenced_works': ['https://openalex.org/W1484293540', 'https://openalex.org/W1558348929', 'https://openalex.org/W1636503892', 'https://openalex.org/W1836388061', 'https://openalex.org/W1873248515', 'https://openalex.org/W1926397464', 'https://openalex.org/W1964302569', 'https://openalex.org/W1967706132', 'https://openalex.org/W1968931043', 'https://openalex.org/W1969558292', 'https://openalex.org/W1969759955', 'https://openalex.org/W1973888286', 'https://openalex.org/W1975105273', 'https://openalex.org/W1975728749', 'https://openalex.org/W1975993845', 'https://openalex.org/W1976516378', 'https://openalex.org/W1976695083', 'https://openalex.org/W1977836335', 'https://openalex.org/W1986849101', 'https://openalex.org/W1987808907', 'https://openalex.org/W1988568961', 'https://openalex.org/W1992048305', 'https://openalex.org/W1994817684', 'https://openalex.org/W1996676239', 'https://openalex.org/W2000373218', 'https://openalex.org/W2000875293', 'https://openalex.org/W2001087751', 'https://openalex.org/W2006737346', 'https://openalex.org/W2008548286', 'https://openalex.org/W2008563981', 'https://openalex.org/W2010232809', 'https://openalex.org/W2012974517', 'https://openalex.org/W2018304597', 'https://openalex.org/W2025025319', 'https://openalex.org/W2031816743', 'https://openalex.org/W2036324252', 'https://openalex.org/W2040365591', 'https://openalex.org/W2044375974', 'https://openalex.org/W2046530033', 'https://openalex.org/W2047362927', 'https://openalex.org/W2047901053', 'https://openalex.org/W2048005397', 'https://openalex.org/W2049195493', 'https://openalex.org/W2059099579', 'https://openalex.org/W2059968749', 'https://openalex.org/W2063127778', 'https://openalex.org/W2065835146', 'https://openalex.org/W2078717408', 'https://openalex.org/W2078955430', 'https://openalex.org/W2084264548', 'https://openalex.org/W2087016730', 'https://openalex.org/W2087468279', 'https://openalex.org/W2089579982', 'https://openalex.org/W2097539804', 'https://openalex.org/W2101760735', 'https://openalex.org/W2103709346', 'https://openalex.org/W2107626432', 'https://openalex.org/W2111414408', 'https://openalex.org/W2116236561', 'https://openalex.org/W2116276594', 'https://openalex.org/W2119787118', 'https://openalex.org/W2120594989', 'https://openalex.org/W2121389760', 'https://openalex.org/W2122277359', 'https://openalex.org/W2122400358', 'https://openalex.org/W2123973342', 'https://openalex.org/W2128234733', 'https://openalex.org/W2129515289', 'https://openalex.org/W2130558981', 'https://openalex.org/W2132376239', 'https://openalex.org/W2134571041', 'https://openalex.org/W2136243961', 'https://openalex.org/W2136633320', 'https://openalex.org/W2136682839', 'https://openalex.org/W2136905998', 'https://openalex.org/W2137391937', 'https://openalex.org/W2138160337', 'https://openalex.org/W2149919973', 'https://openalex.org/W2151282569', 'https://openalex.org/W2154204428', 'https://openalex.org/W2166810745', 'https://openalex.org/W2167198607', 'https://openalex.org/W2168889463', 'https://openalex.org/W2305283023', 'https://openalex.org/W2343887501', 'https://openalex.org/W234872953', 'https://openalex.org/W2515644879', 'https://openalex.org/W2529728286', 'https://openalex.org/W2534118568', 'https://openalex.org/W2549151030', 'https://openalex.org/W2737042110', 'https://openalex.org/W2765189431', 'https://openalex.org/W2766704091', 'https://openalex.org/W2766758135', 'https://openalex.org/W2772629056', 'https://openalex.org/W2782517010', 'https://openalex.org/W2785429866', 'https://openalex.org/W2800628225', 'https://openalex.org/W2912480639', 'https://openalex.org/W2912993287', 'https://openalex.org/W2920624653', 'https://openalex.org/W2950910720', 'https://openalex.org/W2997491681', 'https://openalex.org/W3006102098', 'https://openalex.org/W3013387239', 'https://openalex.org/W3088651435', 'https://openalex.org/W3093967508', 'https://openalex.org/W3211005720'], 'related_works': ['https://openalex.org/W4300497241', 'https://openalex.org/W4234271532', 'https://openalex.org/W3168923313', 'https://openalex.org/W3130501390', 'https://openalex.org/W2789548112', 'https://openalex.org/W2763796431', 'https://openalex.org/W2131956972', 'https://openalex.org/W2129698270', 'https://openalex.org/W2111414408', 'https://openalex.org/W2105337953'], 'abstract_inverted_index': {'Among': [0, 93], 'the': [1, 14, 29, 36, 50, 63, 66, 75, 86, 169], 'inherited': [2], 'causes': [3], 'of': [4, 41, 73, 101, 171], 'intellectual': [5, 122], 'disability': [6], 'and': [7, 174], 'autism,': [8], 'Fragile': [9, 51], 'X': [10, 52], 'syndrome': [11], '(FXS)': [12], 'is': [13, 21, 32, 78, 97, 111], 'most': [15, 26], 'frequent': [16], 'form,': [17], 'for': [18, 120, 131, 152], 'which': [19, 57, 106, 147], 'there': [20, 96], 'currently': [22], 'no': [23], 'cure.': [24], 'In': [25, 140], 'FXS': [27, 94, 153], 'patients,': [28], 'FMR1': [30, 48, 76, 179], 'gene': [31, 77, 180], 'epigenetically': [33], 'inactivated': [34], 'following': [35], 'expansion': [37], 'over': [38], '200': [39], 'triplets': [40], 'a': [42, 98, 104], 'CGG': [43], 'repeat': [44], '(FM:': [45], 'full': [46], 'mutation).': [47], 'encodes': [49], 'Mental': [53], 'Retardation': [54], 'Protein': [55], '(FMRP),': [56], 'binds': [58], 'several': [59, 155], 'mRNAs,': [60], 'mainly': [61], 'in': [62, 85, 178], 'brain.': [64], 'When': [65], 'FM': [67], 'becomes': [68], 'methylated': [69], 'at': [70], '10–12': [71], 'weeks': [72], 'gestation,': [74], 'transcriptionally': [79], 'silent.': [80], 'The': [81], 'molecular': [82], 'mechanisms': [83, 128, 158], 'involved': [84], 'epigenetic': [87, 157, 176], 'silencing': [88], 'are': [89, 129], 'not': [90, 112], 'fully': [91], 'elucidated.': [92], 'families,': [95], 'rare': [99], 'occurrence': [100], 'males': [102], 'carrying': [103], 'FM,': [105], 'remains': [107], 'active': [108], 'because': [109], 'it': [110], 'methylated,': [113], 'thus': [114], 'ensuring': [115], 'enough': [116], 'FMRPs': [117], 'to': [118, 142], 'allow': [119], 'an': [121], 'development': [123], 'within': [124], 'normal': [125], 'range.': [126], 'Which': [127], 'responsible': [130], 'sparing': [132], 'these': [133], 'individuals': [134], 'from': [135], 'being': [136], 'affected': [137], 'by': [138], 'FXS?': [139], 'order': [141], 'answer': [143], 'this': [144], 'critical': [145], 'question,': [146], 'may': [148], 'have': [149, 159], 'possible': [150], 'implications': [151], 'therapy,': [154], 'potential': [156], 'been': [160], 'described.': [161], 'Here,': [162], 'we': [163], 'focus': [164], 'on': [165], 'current': [166], 'knowledge': [167], 'about': [168], 'role': [170], 'DNA': [172], 'methylation': [173], 'other': [175], 'modifications': [177], 'silencing.': [181]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3130501390', 'counts_by_year': [{'year': 2024, 'cited_by_count': 8}, {'year': 2023, 'cited_by_count': 8}, {'year': 2022, 'cited_by_count': 6}, {'year': 2021, 'cited_by_count': 4}], 'updated_date': '2024-12-28T00:32:22.977574', 'created_date': '2021-03-01'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
