{"id":"https://openalex.org/W4387951247","doi":"https://doi.org/10.18388/abp.2020_6729","title":"Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele","display_name":"Mutational analysis of FOLR1 and FOLR2 genes in children with Myelomeningocele","publication_year":2023,"publication_date":"2023-10-26","ids":{"openalex":"https://openalex.org/W4387951247","doi":"https://doi.org/10.18388/abp.2020_6729","pmid":"https://pubmed.ncbi.nlm.nih.gov/37883728"},"language":"en","primary_location":{"id":"doi:10.18388/abp.2020_6729","doi":"https://doi.org/10.18388/abp.2020_6729","is_oa":true,"landing_page_url":"https://doi.org/10.18388/abp.2020_6729","pdf_url":"https://ojs.ptbioch.edu.pl/index.php/abp/article/download/6729/5896","source":{"id":"https://openalex.org/S166203837","display_name":"Acta Biochimica Polonica","issn_l":"0001-527X","issn":["0001-527X","1734-154X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4320800658","host_organization_name":"Polish Biochemical Society","host_organization_lineage":["https://openalex.org/P4320800658"],"host_organization_lineage_names":["Polish Biochemical Society"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Biochimica Polonica","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojs.ptbioch.edu.pl/index.php/abp/article/download/6729/5896","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000414057","display_name":"Nageen Hussain","orcid":"https://orcid.org/0000-0002-4944-1881","observed_orcids":["https://orcid.org/0000-0002-4944-1881"]},"institutions":[{"id":"https://openalex.org/I172780181","display_name":"University of the Punjab","ror":"https://ror.org/011maz450","country_code":"PK","type":"education","lineage":["https://openalex.org/I172780181"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Nageen Hussain","raw_affiliation_strings":["Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan"],"raw_orcid":"https://orcid.org/0000-0002-4944-1881","affiliations":[{"raw_affiliation_string":"Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan","institution_ids":["https://openalex.org/I172780181"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109649811","display_name":"Saira Malik","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172780181","display_name":"University of the Punjab","ror":"https://ror.org/011maz450","country_code":"PK","type":"education","lineage":["https://openalex.org/I172780181"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Saira Malik","raw_affiliation_strings":["Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan","institution_ids":["https://openalex.org/I172780181"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093127282","display_name":"Tayyaba Faiz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172780181","display_name":"University of the Punjab","ror":"https://ror.org/011maz450","country_code":"PK","type":"education","lineage":["https://openalex.org/I172780181"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Tayyaba Faiz","raw_affiliation_strings":["Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan","institution_ids":["https://openalex.org/I172780181"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092026263","display_name":"Fiza Shafqat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172780181","display_name":"University of the Punjab","ror":"https://ror.org/011maz450","country_code":"PK","type":"education","lineage":["https://openalex.org/I172780181"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Fiza Shafqat","raw_affiliation_strings":["Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Microbiology and Molecular Genetics, New Campus, University of the Punjab, Lahore, Pakistan","institution_ids":["https://openalex.org/I172780181"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040502868","display_name":"Ayaz Ali Khan","orcid":"https://orcid.org/0000-0002-9274-2620","observed_orcids":["https://orcid.org/0000-0002-9274-2620"]},"institutions":[{"id":"https://openalex.org/I68649149","display_name":"University of Malakand","ror":"https://ror.org/012xdha97","country_code":"PK","type":"education","lineage":["https://openalex.org/I68649149"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Ayaz Ali Khan","raw_affiliation_strings":["Department of Biotechnology University of Malakand 18800 Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Malakand 18800 Pakistan","institution_ids":["https://openalex.org/I68649149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079051094","display_name":"Taqweem Ul Haq","orcid":"https://orcid.org/0000-0002-3860-2424","observed_orcids":["https://orcid.org/0000-0002-3860-2424","https://orcid.org/0009-0000-9745-3337"]},"institutions":[{"id":"https://openalex.org/I68649149","display_name":"University of Malakand","ror":"https://ror.org/012xdha97","country_code":"PK","type":"education","lineage":["https://openalex.org/I68649149"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Taqweem Ul Haq","raw_affiliation_strings":["Department of Biotechnology University of Malakand 18800 Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Malakand 18800 Pakistan","institution_ids":["https://openalex.org/I68649149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101942104","display_name":"Waqar Ali","orcid":"https://orcid.org/0000-0002-9335-1082","observed_orcids":["https://orcid.org/0000-0002-9335-1082"]},"institutions":[{"id":"https://openalex.org/I68649149","display_name":"University of Malakand","ror":"https://ror.org/012xdha97","country_code":"PK","type":"education","lineage":["https://openalex.org/I68649149"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Waqar Ali","raw_affiliation_strings":["Department of Biotechnology University of Malakand 18800 Pakistan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biotechnology University of Malakand 18800 Pakistan","institution_ids":["https://openalex.org/I68649149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043283243","display_name":"Tariq A. Aziz","orcid":"https://orcid.org/0000-0003-0905-8076","observed_orcids":["https://orcid.org/0000-0003-0905-8076"]},"institutions":[{"id":"https://openalex.org/I194019607","display_name":"University of Ioannina","ror":"https://ror.org/01qg3j183","country_code":"GR","type":"education","lineage":["https://openalex.org/I194019607"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Tariq Aziz","raw_affiliation_strings":["Department of Agriculture, University of Ioannina, 47100 Arta, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Agriculture, University of Ioannina, 47100 Arta, Greece","institution_ids":["https://openalex.org/I194019607"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113055669","display_name":"Metab Alharbi","orcid":"https://orcid.org/0000-0001-8287-4470","observed_orcids":["https://orcid.org/0000-0001-8287-4470"]},"institutions":[{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Metab Alharbi","raw_affiliation_strings":["Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042194510","display_name":"Abdulrahman Alshammari","orcid":"https://orcid.org/0000-0002-9888-9826","observed_orcids":["https://orcid.org/0000-0002-9888-9826"]},"institutions":[{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Abdulrahman Alshammari","raw_affiliation_strings":["Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033449880","display_name":"Abdullah F. Alasmari","orcid":"https://orcid.org/0000-0001-7569-4287","observed_orcids":["https://orcid.org/0000-0001-7569-4287"]},"institutions":[{"id":"https://openalex.org/I28022161","display_name":"King Saud University","ror":"https://ror.org/02f81g417","country_code":"SA","type":"education","lineage":["https://openalex.org/I28022161"]}],"countries":["SA"],"is_corresponding":false,"raw_author_name":"Abdullah F. Alasmari","raw_affiliation_strings":["Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, P.O. Box 2455, Riyadh 11451, Saudi Arabia","institution_ids":["https://openalex.org/I28022161"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1750,"currency":"USD","value_usd":1750},"apc_paid":{"value":1750,"currency":"USD","value_usd":1750},"fwci":0.3173,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.50636065,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"70","issue":"4","first_page":"885","last_page":"889"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.9556000232696533,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.9556000232696533,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10499","display_name":"Folate and B Vitamins Research","score":0.037300001829862595,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/myelomeningocele","display_name":"myelomeningocele","score":1.0},{"id":"https://openalex.org/keywords/folate-receptor-alpha","display_name":"folate receptor alpha","score":0.9850000143051147},{"id":"https://openalex.org/keywords/folr2","display_name":"folate receptor beta","score":0.9980000257492065},{"id":"https://openalex.org/keywords/folate-receptor","display_name":"folate receptor","score":0.8579999804496765},{"id":"https://openalex.org/keywords/folate-transporters","display_name":"folate transporters","score":0.8709999918937683},{"id":"https://openalex.org/keywords/slc46a1","display_name":"SLC46A1","score":0.7850000262260437},{"id":"https://openalex.org/keywords/slc19a1","display_name":"SLC19A1","score":0.9869999885559082},{"id":"https://openalex.org/keywords/folh1","display_name":"FOLH1","score":0.9470000267028809},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5849999785423279},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9760000109672546},{"id":"https://openalex.org/keywords/smoking","display_name":"smoking","score":0.4059999883174896},{"id":"https://openalex.org/keywords/maternal-socioeconomic-status","display_name":"maternal socioeconomic status","score":0.8920000195503235},{"id":"https://openalex.org/keywords/neural-tube-defects","display_name":"neural tube defects","score":0.722000002861023}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7121750712394714},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6678438186645508},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6525571346282959},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5600360035896301},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5484311580657959},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48676347732543945}],"mesh":[{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005492","descriptor_name":"Folic Acid","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008591","descriptor_name":"Meningomyelocele","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D058975","descriptor_name":"Folate Receptor 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D058976","descriptor_name":"Folate Receptor 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D058979","descriptor_name":"Proton-Coupled Folate Transporter","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.18388/abp.2020_6729","doi":"https://doi.org/10.18388/abp.2020_6729","is_oa":true,"landing_page_url":"https://doi.org/10.18388/abp.2020_6729","pdf_url":"https://ojs.ptbioch.edu.pl/index.php/abp/article/download/6729/5896","source":{"id":"https://openalex.org/S166203837","display_name":"Acta Biochimica Polonica","issn_l":"0001-527X","issn":["0001-527X","1734-154X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4320800658","host_organization_name":"Polish Biochemical Society","host_organization_lineage":["https://openalex.org/P4320800658"],"host_organization_lineage_names":["Polish Biochemical Society"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Biochimica Polonica","raw_type":"journal-article"},{"id":"pmid:37883728","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37883728","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta biochimica Polonica","raw_type":"Journal Article"},{"id":"doi:10.60692/81bqw-t2418","doi":"https://doi.org/10.60692/81bqw-t2418","is_oa":true,"landing_page_url":"https://doi.org/10.60692/81bqw-t2418","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/fjesp-w4b15","doi":"https://doi.org/10.60692/fjesp-w4b15","is_oa":true,"landing_page_url":"https://doi.org/10.60692/fjesp-w4b15","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.18388/abp.2020_6729","doi":"https://doi.org/10.18388/abp.2020_6729","is_oa":true,"landing_page_url":"https://doi.org/10.18388/abp.2020_6729","pdf_url":"https://ojs.ptbioch.edu.pl/index.php/abp/article/download/6729/5896","source":{"id":"https://openalex.org/S166203837","display_name":"Acta Biochimica Polonica","issn_l":"0001-527X","issn":["0001-527X","1734-154X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","medline","norway-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4320800658","host_organization_name":"Polish Biochemical Society","host_organization_lineage":["https://openalex.org/P4320800658"],"host_organization_lineage_names":["Polish Biochemical Society"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Biochimica Polonica","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4387951247.pdf","grobid_xml":"https://content.openalex.org/works/W4387951247.grobid-xml"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W1604029064","https://openalex.org/W2028767039","https://openalex.org/W2092396288","https://openalex.org/W2104530691","https://openalex.org/W2142460377","https://openalex.org/W2146017062","https://openalex.org/W2150772680","https://openalex.org/W2604497258","https://openalex.org/W2759258181","https://openalex.org/W2761589935","https://openalex.org/W2775378865","https://openalex.org/W2945792041","https://openalex.org/W2953106812","https://openalex.org/W3006522693","https://openalex.org/W3087168641","https://openalex.org/W3194312034","https://openalex.org/W3208443599","https://openalex.org/W4281726571","https://openalex.org/W4291161865","https://openalex.org/W4294295932","https://openalex.org/W4380730075","https://openalex.org/W4381050845","https://openalex.org/W4386447705","https://openalex.org/W4387033898","https://openalex.org/W4392145873"],"related_works":["https://openalex.org/W2150772680","https://openalex.org/W2759258181","https://openalex.org/W1608471931","https://openalex.org/W4402403843","https://openalex.org/W2092677984","https://openalex.org/W4213315747","https://openalex.org/W3196836531","https://openalex.org/W2084697106","https://openalex.org/W1969479276","https://openalex.org/W4400062371"],"abstract_inverted_index":{"Myelomeningocele":[0,86],"(MMC)":[1],"is":[2,31,87],"a":[3,7,88],"congenital":[4],"disease.":[5],"For":[6],"long":[8],"time,":[9],"molecular":[10],"mechanism":[11],"of":[12,16,37,56,58,67,76,101,114,132,161,182,204],"MMC,":[13],"the":[14,35,54,65,73,96,112,179,193,202,207],"role":[15,200],"folate":[17,38,46,194],"receptor":[18,47],"and":[19,43,45,50,78,106,121,147,184],"transporter":[20,195],"proteins":[21],"remain":[22],"unclear.":[23],"Folate":[24],"from":[25,84,95],"maternal":[26],"lumen":[27],"to":[28,53,128,142,168],"developing":[29],"embryo":[30],"carried":[32],"out":[33],"with":[34,111,173],"help":[36,113],"transporters":[39],"(SLC46A1,":[40],"SLC19A1,":[41],"FOLH1":[42],"SLC25A32)":[44],"(FOLR1,":[48],"FOLR2":[49,79,107,148,185],"FOLR3).":[51],"Due":[52],"loss":[55],"function":[57],"these":[59,135],"important":[60],"genes,":[61],"complications":[62],"can":[63],"facilitate":[64],"risk":[66],"MMC.":[68,85],"This":[69],"study":[70],"focused":[71],"on":[72],"mutational":[74,124],"analysis":[75,125],"FOLR1":[77,105,146,183],"genes":[80,108,186],"in":[81,134,145,178,192,201,206],"children":[82,97],"suffering":[83],"rare":[89],"disorder":[90],"so":[91],"twenty":[92],"blood":[93],"samples":[94],"were":[98,109,166],"collected.":[99],"Primers":[100],"selected":[102,180],"exons":[103,181],"for":[104],"designed":[110],"PrimerFox":[115],"software.":[116],"Extracted":[117],"DNA":[118],"was":[119,126,140,187],"amplified,":[120],"PCR":[122],"based":[123],"done":[127],"check":[129],"any":[130],"type":[131],"mutation/SNPs":[133],"genes.":[136,149],"Sanger":[137],"sequencing":[138],"method":[139],"performed":[141],"confirm":[143],"mutation":[144,177],"The":[150],"results":[151],"showed":[152],"that":[153],"certain":[154],"environmental":[155],"factors":[156],"(smoking,":[157],"low":[158],"socio-economic":[159],"status":[160],"mother":[162],"bearing":[163],"MMC":[164,174,205],"fetus)":[165],"found":[167],"be":[169],"significantly":[170],"(P<0.05)":[171],"associated":[172],"but":[175],"no":[176,199],"detected.":[188],"Thus,":[189],"genetic":[190],"variations":[191],"gene":[196],"may":[197],"have":[198],"progression":[203],"studied":[208],"population.":[209]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2023-10-27T00:00:00"}