{"id":"https://openalex.org/W2020646829","doi":"https://doi.org/10.1007/s00384-013-1770-1","title":"Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients","display_name":"Germline mutation and protein expression analysis of mismatch repair genes MSH6 and PMS2 in Malaysian Lynch syndrome patients","publication_year":2013,"publication_date":"2013-09-26","ids":{"openalex":"https://openalex.org/W2020646829","doi":"https://doi.org/10.1007/s00384-013-1770-1","mag":"2020646829","pmid":"https://pubmed.ncbi.nlm.nih.gov/24072394"},"language":"en","primary_location":{"id":"doi:10.1007/s00384-013-1770-1","doi":"https://doi.org/10.1007/s00384-013-1770-1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00384-013-1770-1","pdf_url":null,"source":{"id":"https://openalex.org/S164699263","display_name":"International Journal of Colorectal Disease","issn_l":"0179-1958","issn":["0179-1958","1432-1262"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Colorectal Disease","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/A5027092696","display_name":"Mohd Nizam Zahary","orcid":"https://orcid.org/0000-0001-7449-2501","observed_orcids":["https://orcid.org/0000-0001-7449-2501"]},"institutions":[{"id":"https://openalex.org/I139322472","display_name":"Universiti Sains Malaysia","ror":"https://ror.org/02rgb2k63","country_code":"MY","type":"education","lineage":["https://openalex.org/I139322472"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Mohd Nizam Zahary","raw_affiliation_strings":["Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia Health Campus, 16150, Kubang Kerian, Kelantan, Malaysia","Universiti Sains Malaysia Health Campus"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia Health Campus, 16150, Kubang Kerian, Kelantan, Malaysia","institution_ids":["https://openalex.org/I139322472"]},{"raw_affiliation_string":"Universiti Sains Malaysia Health Campus","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034072237","display_name":"Gurjeet Kaur","orcid":"https://orcid.org/0000-0002-6232-5703","observed_orcids":["https://orcid.org/0000-0002-6232-5703"]},"institutions":[{"id":"https://openalex.org/I139322472","display_name":"Universiti Sains Malaysia","ror":"https://ror.org/02rgb2k63","country_code":"MY","type":"education","lineage":["https://openalex.org/I139322472"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Gurjeet Kaur","raw_affiliation_strings":["Institute for Research in Molecular Medicine, Universiti Sains Malaysia, Pulau Pinang, Malaysia","Universiti Sains, Malaysia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Research in Molecular Medicine, Universiti Sains Malaysia, Pulau Pinang, Malaysia","institution_ids":["https://openalex.org/I139322472"]},{"raw_affiliation_string":"Universiti Sains, Malaysia","institution_ids":["https://openalex.org/I139322472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026259568","display_name":"Muhammad Radzi Abu Hassan","orcid":"https://orcid.org/0000-0002-7971-1643","observed_orcids":["https://orcid.org/0000-0002-7971-1643"]},"institutions":[{"id":"https://openalex.org/I4210149189","display_name":"Hospital Sultanah Bahiyah","ror":"https://ror.org/05wga2g83","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I4210149189"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Muhammad Radzi Abu Hassan","raw_affiliation_strings":["Department of Internal Medicine, Hospital Sultanah Bahiyah, Kedah, Alor Star, Malaysia","Hospital Sultanah Bahiyah"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Hospital Sultanah Bahiyah, Kedah, Alor Star, Malaysia","institution_ids":["https://openalex.org/I4210149189"]},{"raw_affiliation_string":"Hospital Sultanah Bahiyah","institution_ids":["https://openalex.org/I4210149189"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056314844","display_name":"Ahmad Shanwani Mohd Sidek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110603","display_name":"Hospital Raja Perempuan Zainab II","ror":"https://ror.org/01qynw361","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I4210110603"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Ahmad Shanwani Mohd Sidek","raw_affiliation_strings":["Surgery Department, Hospital Raja Perempuan Zainab II, Kota Bharu, Kelantan, Malaysia","Hospital Raja Perempuan Zainab II"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Surgery Department, Hospital Raja Perempuan Zainab II, Kota Bharu, Kelantan, Malaysia","institution_ids":["https://openalex.org/I4210110603"]},{"raw_affiliation_string":"Hospital Raja Perempuan Zainab II","institution_ids":["https://openalex.org/I4210110603"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027516191","display_name":"Harjinder Singh","orcid":"https://orcid.org/0009-0005-7425-637X","observed_orcids":["https://orcid.org/0009-0005-7425-637X"]},"institutions":[{"id":"https://openalex.org/I4210164684","display_name":"Queen Elizabeth Hospital","ror":"https://ror.org/05pgywt51","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I4210164684"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Harjinder Singh","raw_affiliation_strings":["Department of Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia","Queen Elizabeth Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia","institution_ids":["https://openalex.org/I4210164684"]},{"raw_affiliation_string":"Queen Elizabeth Hospital","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Lee Yeong Yeh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I139322472","display_name":"Universiti Sains Malaysia","ror":"https://ror.org/02rgb2k63","country_code":"MY","type":"education","lineage":["https://openalex.org/I139322472"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Lee Yeong Yeh","raw_affiliation_strings":["Department of Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia","** School of Medical Sciences, Universiti Sains Malaysia;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia","institution_ids":["https://openalex.org/I139322472"]},{"raw_affiliation_string":"** School of Medical Sciences, Universiti Sains Malaysia;","institution_ids":["https://openalex.org/I139322472"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5051356701","display_name":"Ravindran Ankathil","orcid":"https://orcid.org/0000-0003-3080-415X","observed_orcids":["https://orcid.org/0000-0003-3080-415X"]},"institutions":[{"id":"https://openalex.org/I139322472","display_name":"Universiti Sains Malaysia","ror":"https://ror.org/02rgb2k63","country_code":"MY","type":"education","lineage":["https://openalex.org/I139322472"]}],"countries":["MY"],"is_corresponding":true,"raw_author_name":"Ravindran Ankathil","raw_affiliation_strings":["Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia Health Campus, 16150, Kubang Kerian, Kelantan, Malaysia","Universiti Sains Malaysia Health Campus"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia Health Campus, 16150, Kubang Kerian, Kelantan, Malaysia","institution_ids":["https://openalex.org/I139322472"]},{"raw_affiliation_string":"Universiti Sains Malaysia Health Campus","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5051356701"],"corresponding_institution_ids":["https://openalex.org/I139322472"],"apc_list":{"value":3790,"currency":"USD","value_usd":3790},"apc_paid":null,"fwci":0.5252,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.67687893,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"29","issue":"2","first_page":"261","last_page":"262"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic 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/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic 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/T10123","display_name":"DNA Repair Mechanisms","score":0.0,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/lynch-syndrome","display_name":"Lynch syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/msh6","display_name":"MSH6","score":0.8220000267028809},{"id":"https://openalex.org/keywords/pms2","display_name":"PMS2","score":1.0},{"id":"https://openalex.org/keywords/mismatch-repair-genes","display_name":"mismatch repair genes","score":0.9670000076293945},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.9559999704360962},{"id":"https://openalex.org/keywords/protein-expression","display_name":"protein expression","score":0.9490000009536743},{"id":"https://openalex.org/keywords/hereditary-colorectal-cancer","display_name":"hereditary colorectal cancer","score":0.8899999856948853},{"id":"https://openalex.org/keywords/malaysian-patients","display_name":"Malaysian patients","score":0.8930000066757202}],"concepts":[{"id":"https://openalex.org/C2776674815","wikidata":"https://www.wikidata.org/wiki/Q14911717","display_name":"MSH6","level":5,"score":0.9663461446762085},{"id":"https://openalex.org/C2778677574","wikidata":"https://www.wikidata.org/wiki/Q18030629","display_name":"PMS2","level":5,"score":0.9541009068489075},{"id":"https://openalex.org/C2776559941","wikidata":"https://www.wikidata.org/wiki/Q783644","display_name":"Lynch syndrome","level":5,"score":0.8324000835418701},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7609137296676636},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.6591163873672485},{"id":"https://openalex.org/C41260117","wikidata":"https://www.wikidata.org/wiki/Q668064","display_name":"Hepatology","level":2,"score":0.5703039765357971},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5035361647605896},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48951685428619385},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.4716193974018097},{"id":"https://openalex.org/C111425858","wikidata":"https://www.wikidata.org/wiki/Q14911708","display_name":"MLH1","level":5,"score":0.452382355928421},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4431777000427246},{"id":"https://openalex.org/C2779115348","wikidata":"https://www.wikidata.org/wiki/Q14911688","display_name":"MSH2","level":5,"score":0.4332399368286133},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4244178235530853},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.40425407886505127},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4003522992134094},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.1827450692653656},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13252177834510803},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.08716961741447449}],"mesh":[{"descriptor_ui":"D000070976","descriptor_name":"Mismatch Repair Endonuclease PMS2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000251","descriptor_name":"Adenosine Triphosphatases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003123","descriptor_name":"Colorectal Neoplasms, Hereditary Nonpolyposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008296","descriptor_name":"Malaysia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D045643","descriptor_name":"DNA Repair Enzymes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053843","descriptor_name":"DNA Mismatch Repair","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00384-013-1770-1","doi":"https://doi.org/10.1007/s00384-013-1770-1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00384-013-1770-1","pdf_url":null,"source":{"id":"https://openalex.org/S164699263","display_name":"International Journal of Colorectal Disease","issn_l":"0179-1958","issn":["0179-1958","1432-1262"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Colorectal Disease","raw_type":"journal-article"},{"id":"pmid:24072394","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24072394","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":"International journal of colorectal disease","raw_type":"Letter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W1965664324","https://openalex.org/W2081680846","https://openalex.org/W2092904460","https://openalex.org/W2099648715"],"related_works":["https://openalex.org/W1965664324","https://openalex.org/W2972325241","https://openalex.org/W2099648715","https://openalex.org/W2601315515","https://openalex.org/W2183353681","https://openalex.org/W2164199482","https://openalex.org/W3022825441","https://openalex.org/W2118732867","https://openalex.org/W2312448640","https://openalex.org/W2586543502"],"abstract_inverted_index":null,"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
