{"id":"https://openalex.org/W2025898243","doi":"https://doi.org/10.1007/s11033-008-9226-3","title":"Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene","display_name":"Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene","publication_year":2008,"publication_date":"2008-03-10","ids":{"openalex":"https://openalex.org/W2025898243","doi":"https://doi.org/10.1007/s11033-008-9226-3","mag":"2025898243","pmid":"https://pubmed.ncbi.nlm.nih.gov/18330718"},"language":"en","primary_location":{"id":"doi:10.1007/s11033-008-9226-3","doi":"https://doi.org/10.1007/s11033-008-9226-3","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11033-008-9226-3","pdf_url":null,"source":{"id":"https://openalex.org/S197962172","display_name":"Molecular Biology Reports","issn_l":"0301-4851","issn":["0301-4851","1573-4978"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5110046315","display_name":"Sana Sfar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sana Sfar","raw_affiliation_strings":["Department of Molecular Immuno-Oncology, Faculty of Medicine, University of Monastir, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Immuno-Oncology, Faculty of Medicine, University of Monastir, Monastir, Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110046316","display_name":"Abderrazak Abid","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Abderrazak Abid","raw_affiliation_strings":["Department of Orthopedic, EPS Fattouma Bourguiba, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic, EPS Fattouma Bourguiba, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067560557","display_name":"Wijden Mahfoudh","orcid":"https://orcid.org/0000-0003-1306-7987","observed_orcids":["https://orcid.org/0000-0003-1306-7987"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Wijden Mahfoudh","raw_affiliation_strings":["Department of Molecular Immuno-Oncology, Faculty of Medicine, University of Monastir, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Immuno-Oncology, Faculty of Medicine, University of Monastir, Monastir, Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018246144","display_name":"Houyem Ouragini","orcid":"https://orcid.org/0000-0003-2427-2804","observed_orcids":["https://orcid.org/0000-0003-2427-2804"]},"institutions":[{"id":"https://openalex.org/I4210142087","display_name":"Institut Pasteur de Tunis","ror":"https://ror.org/04pwyer06","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210142087"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Houyem Ouragini","raw_affiliation_strings":["Research Unit on Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Unit on Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210142087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041058543","display_name":"Farah Ouechtati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210142087","display_name":"Institut Pasteur de Tunis","ror":"https://ror.org/04pwyer06","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210142087"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Farah Ouechtati","raw_affiliation_strings":["Research Unit on Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Unit on Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210142087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052338940","display_name":"Sonia Abdelhak","orcid":"https://orcid.org/0000-0001-8466-5525","observed_orcids":["https://orcid.org/0000-0001-8466-5525"]},"institutions":[{"id":"https://openalex.org/I4210142087","display_name":"Institut Pasteur de Tunis","ror":"https://ror.org/04pwyer06","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210142087"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sonia Abdelhak","raw_affiliation_strings":["Research Unit on Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Unit on Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210142087"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050542224","display_name":"Lotfi Chouchane","orcid":"https://orcid.org/0000-0002-2082-7924","observed_orcids":["https://orcid.org/0000-0002-2082-7924"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]},{"id":"https://openalex.org/I4210152471","display_name":"Weill Cornell Medical College in Qatar","ror":"https://ror.org/05v5hg569","country_code":"QA","type":"education","lineage":["https://openalex.org/I4210152471"]}],"countries":["QA","TN"],"is_corresponding":true,"raw_author_name":"Lotfi Chouchane","raw_affiliation_strings":["Department of Genetic Medicine, Weill Cornell Medical College in Qatar, P.O. Box 24144, Doha, Qatar","Department of Molecular Immuno-Oncology, Faculty of Medicine, University of Monastir, Monastir, Tunisia","University of Monastir","Weill Cornell Medical College in Qatar"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetic Medicine, Weill Cornell Medical College in Qatar, P.O. Box 24144, Doha, Qatar","institution_ids":["https://openalex.org/I4210152471"]},{"raw_affiliation_string":"Department of Molecular Immuno-Oncology, Faculty of Medicine, University of Monastir, Monastir, Tunisia","institution_ids":["https://openalex.org/I166928557"]},{"raw_affiliation_string":"University of Monastir","institution_ids":["https://openalex.org/I166928557"]},{"raw_affiliation_string":"Weill Cornell Medical College in Qatar","institution_ids":["https://openalex.org/I4210152471"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5050542224"],"corresponding_institution_ids":["https://openalex.org/I166928557","https://openalex.org/I4210152471"],"apc_list":{"value":4290,"currency":"USD","value_usd":4290},"apc_paid":null,"fwci":0.7183,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.7486682,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"36","issue":"4","first_page":"661","last_page":"667"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.9520999789237976,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"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/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.9520999789237976,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"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/T12924","display_name":"Dermatological and Skeletal Disorders","score":0.020600000396370888,"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/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.0044999998062849045,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/hereditary-multiple-exostoses","display_name":"hereditary multiple exostoses","score":1.0},{"id":"https://openalex.org/keywords/ext1-gene","display_name":"EXT1 gene","score":0.9990000128746033},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7699999809265137},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8140000104904175},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.6119999885559082},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.5799999833106995},{"id":"https://openalex.org/keywords/intrafamilial-variability","display_name":"intrafamilial variability","score":0.8610000014305115},{"id":"https://openalex.org/keywords/tunisian-family","display_name":"Tunisian family","score":0.6309999823570251},{"id":"https://openalex.org/keywords/glycosaminoglycan-biosynthesis","display_name":"glycosaminoglycan synthesis","score":0.656000018119812}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8278622627258301},{"id":"https://openalex.org/C64872895","wikidata":"https://www.wikidata.org/wiki/Q1361360","display_name":"Transversion","level":4,"score":0.8048601150512695},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7995964288711548},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.7712681293487549},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6790109872817993},{"id":"https://openalex.org/C2778286736","wikidata":"https://www.wikidata.org/wiki/Q1952467","display_name":"Hereditary multiple exostoses","level":3,"score":0.6299146413803101},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5692622661590576},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5664359331130981},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5561085939407349},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5267954468727112},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.433754026889801},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3278322219848633}],"mesh":[{"descriptor_ui":"D000099058","descriptor_name":"Exostosin 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005097","descriptor_name":"Exostoses, Multiple Hereditary","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005786","descriptor_name":"Gene Expression Regulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017351","descriptor_name":"N-Acetylglucosaminyltransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017351","descriptor_name":"N-Acetylglucosaminyltransferases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/s11033-008-9226-3","doi":"https://doi.org/10.1007/s11033-008-9226-3","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s11033-008-9226-3","pdf_url":null,"source":{"id":"https://openalex.org/S197962172","display_name":"Molecular Biology Reports","issn_l":"0301-4851","issn":["0301-4851","1573-4978"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Biology Reports","raw_type":"journal-article"},{"id":"pmid:18330718","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18330718","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":"Molecular biology reports","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:pasteur-01375178v1","doi":null,"is_oa":false,"landing_page_url":"https://riip.hal.science/pasteur-01375178","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Biology Reports, 2009, 36 (4), pp.661-667. ⟨10.1007/s11033-008-9226-3⟩","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":54,"referenced_works":["https://openalex.org/W280784868","https://openalex.org/W1511048586","https://openalex.org/W1511495242","https://openalex.org/W1518841915","https://openalex.org/W1566448969","https://openalex.org/W1577599165","https://openalex.org/W1586972767","https://openalex.org/W1915870046","https://openalex.org/W1978304554","https://openalex.org/W1981634693","https://openalex.org/W1982059998","https://openalex.org/W1984853905","https://openalex.org/W1991246056","https://openalex.org/W1994864044","https://openalex.org/W1998487744","https://openalex.org/W1998849385","https://openalex.org/W1999727129","https://openalex.org/W2001692558","https://openalex.org/W2003696506","https://openalex.org/W2015574865","https://openalex.org/W2019140215","https://openalex.org/W2021273501","https://openalex.org/W2022212740","https://openalex.org/W2025851750","https://openalex.org/W2033940805","https://openalex.org/W2033965408","https://openalex.org/W2035061498","https://openalex.org/W2035997436","https://openalex.org/W2036238095","https://openalex.org/W2047649254","https://openalex.org/W2049187503","https://openalex.org/W2049649522","https://openalex.org/W2057600508","https://openalex.org/W2066414256","https://openalex.org/W2068909924","https://openalex.org/W2070817709","https://openalex.org/W2075630737","https://openalex.org/W2085236613","https://openalex.org/W2095373191","https://openalex.org/W2108345995","https://openalex.org/W2114561002","https://openalex.org/W2118094114","https://openalex.org/W2127996765","https://openalex.org/W2130551481","https://openalex.org/W2135652758","https://openalex.org/W2145131342","https://openalex.org/W2146712325","https://openalex.org/W2151845285","https://openalex.org/W2152629282","https://openalex.org/W2155445061","https://openalex.org/W2162396165","https://openalex.org/W2245371440","https://openalex.org/W2292744654","https://openalex.org/W4298860592"],"related_works":["https://openalex.org/W2947178064","https://openalex.org/W1975396860","https://openalex.org/W2377037724","https://openalex.org/W1518841915","https://openalex.org/W2003556267","https://openalex.org/W2013355657","https://openalex.org/W2003137481","https://openalex.org/W2375758404","https://openalex.org/W3089127409","https://openalex.org/W2871753524"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2019,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}