{"id":"https://openalex.org/W4281782819","doi":"https://doi.org/10.1097/mpg.0000000000003470","title":"FOCAD Indel in a Family With Juvenile Polyposis Syndrome","display_name":"FOCAD Indel in a Family With Juvenile Polyposis Syndrome","publication_year":2022,"publication_date":"2022-05-27","ids":{"openalex":"https://openalex.org/W4281782819","doi":"https://doi.org/10.1097/mpg.0000000000003470","pmid":"https://pubmed.ncbi.nlm.nih.gov/35622075"},"language":"en","primary_location":{"id":"doi:10.1097/mpg.0000000000003470","doi":"https://doi.org/10.1097/mpg.0000000000003470","is_oa":false,"landing_page_url":"https://doi.org/10.1097/mpg.0000000000003470","pdf_url":null,"source":{"id":"https://openalex.org/S197964821","display_name":"Journal of Pediatric Gastroenterology and Nutrition","issn_l":"0277-2116","issn":["0277-2116","1536-4801"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Gastroenterology and Nutrition","raw_type":"journal-article"},"volume":null,"type":"article","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/A5078757901","display_name":"Suzanne P. MacFarland","orcid":"https://orcid.org/0000-0001-5894-6403","observed_orcids":["https://orcid.org/0000-0001-5894-6403"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Suzanne P. MacFarland","raw_affiliation_strings":["Division of Oncology Department of Pediatrics Philadelphia PA","Division of Oncology, Department of Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Oncology Department of Pediatrics Philadelphia PA","institution_ids":[]},{"raw_affiliation_string":"Division of Oncology, Department of Pediatrics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015750970","display_name":"Hongbo Michael Xie","orcid":"https://orcid.org/0000-0003-2223-0029","observed_orcids":["https://orcid.org/0000-0003-2223-0029"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hongbo Xie","raw_affiliation_strings":["Division of Bioinformatics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Bioinformatics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086504111","display_name":"Maiah H. Dent","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Maiah H. Dent","raw_affiliation_strings":["Division of Oncology Department of Pediatrics Philadelphia PA","Division of Oncology, Department of Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Oncology Department of Pediatrics Philadelphia PA","institution_ids":[]},{"raw_affiliation_string":"Division of Oncology, Department of Pediatrics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005951426","display_name":"Bridgid Greed","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Bridgid Greed","raw_affiliation_strings":["Division of Oncology Department of Pediatrics Philadelphia PA","Division of Oncology, Department of Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Oncology Department of Pediatrics Philadelphia PA","institution_ids":[]},{"raw_affiliation_string":"Division of Oncology, Department of Pediatrics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028969570","display_name":"Sharon E. Plon","orcid":"https://orcid.org/0000-0002-9626-0936","observed_orcids":["https://orcid.org/0000-0002-9626-0936"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sharon E. Plon","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057009671","display_name":"Sarah Scollon","orcid":"https://orcid.org/0000-0003-2017-0245","observed_orcids":["https://orcid.org/0000-0003-2017-0245"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sarah R. Scollon","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX","institution_ids":["https://openalex.org/I181547552"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004950779","display_name":"Garrett M. Brodeur","orcid":"https://orcid.org/0000-0002-6721-122X","observed_orcids":["https://orcid.org/0000-0002-6721-122X"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Garrett M. Brodeur","raw_affiliation_strings":["Division of Oncology Department of Pediatrics Philadelphia PA","Division of Oncology, Department of Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Oncology Department of Pediatrics Philadelphia PA","institution_ids":[]},{"raw_affiliation_string":"Division of Oncology, Department of Pediatrics","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5052483047","display_name":"James R. Howe","orcid":"https://orcid.org/0000-0001-5312-5972","observed_orcids":["https://orcid.org/0000-0001-5312-5972"]},"institutions":[{"id":"https://openalex.org/I4210142782","display_name":"University of Iowa Health Care","ror":"https://ror.org/0431j1t39","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I126307644","https://openalex.org/I4210142782"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James R. Howe","raw_affiliation_strings":["Department of Surgery, University of Iowa Health Care, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University of Iowa Health Care, Iowa City, IA","institution_ids":["https://openalex.org/I4210142782"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5004950779","https://openalex.org/A5005951426","https://openalex.org/A5078757901","https://openalex.org/A5086504111"],"corresponding_institution_ids":[],"apc_list":{"value":3780,"currency":"USD","value_usd":3780},"apc_paid":null,"fwci":0.3386,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.53803374,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":96},"biblio":{"volume":"75","issue":"1","first_page":"56","last_page":"58"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9984999895095825,"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":0.9984999895095825,"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/T11501","display_name":"TGF-\u03b2 signaling in diseases","score":0.00019999999494757503,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"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/juvenile-polyposis-syndrome","display_name":"juvenile polyposis syndrome","score":0.984000027179718},{"id":"https://openalex.org/keywords/indels","display_name":"indels","score":0.5289999842643738},{"id":"https://openalex.org/keywords/germline-deletion","display_name":"germline deletion","score":0.6930000185966492},{"id":"https://openalex.org/keywords/bmpr1a","display_name":"BMPR1A","score":0.6850000023841858},{"id":"https://openalex.org/keywords/smad4","display_name":"SMAD4","score":1.0},{"id":"https://openalex.org/keywords/gastrointestinal-polyposis","display_name":"gastrointestinal polyposis","score":0.8169999718666077},{"id":"https://openalex.org/keywords/gastrointestinal-cancer-risk","display_name":"gastrointestinal cancer risk","score":0.7480000257492065},{"id":"https://openalex.org/keywords/familial-polyposis","display_name":"familial polyposis","score":0.7409999966621399},{"id":"https://openalex.org/keywords/gene-inactivation","display_name":"gene inactivation","score":0.5490000247955322}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7882601022720337},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7576490640640259},{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.6745833158493042},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6711027026176453},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6191704273223877},{"id":"https://openalex.org/C141496672","wikidata":"https://www.wikidata.org/wiki/Q14883437","display_name":"MUTYH","level":5,"score":0.5587090849876404},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.466599702835083},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.41142746806144714},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3905344009399414},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.2975108027458191},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2512074112892151},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2238370180130005},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.14092668890953064},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12123715877532959}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005770","descriptor_name":"Gastrointestinal Neoplasms","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":"D009386","descriptor_name":"Neoplastic Syndromes, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025521","descriptor_name":"Tumor Suppressor Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044483","descriptor_name":"Intestinal Polyposis","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D044483","descriptor_name":"Intestinal Polyposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1097/mpg.0000000000003470","doi":"https://doi.org/10.1097/mpg.0000000000003470","is_oa":false,"landing_page_url":"https://doi.org/10.1097/mpg.0000000000003470","pdf_url":null,"source":{"id":"https://openalex.org/S197964821","display_name":"Journal of Pediatric Gastroenterology and Nutrition","issn_l":"0277-2116","issn":["0277-2116","1536-4801"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Gastroenterology and Nutrition","raw_type":"journal-article"},{"id":"pmid:35622075","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35622075","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":"Journal of pediatric gastroenterology and nutrition","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9789000153541565}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1561588267","https://openalex.org/W1584035688","https://openalex.org/W1595361570","https://openalex.org/W1970869943","https://openalex.org/W2053508375","https://openalex.org/W2100083515","https://openalex.org/W2106578986","https://openalex.org/W2147323051","https://openalex.org/W2150522342","https://openalex.org/W2168133698","https://openalex.org/W2954133000","https://openalex.org/W2970423639","https://openalex.org/W3028710516","https://openalex.org/W3031647965"],"related_works":["https://openalex.org/W7202270254","https://openalex.org/W4381930430","https://openalex.org/W3092131804","https://openalex.org/W1637920380","https://openalex.org/W7204718431","https://openalex.org/W2068174086","https://openalex.org/W2002093076","https://openalex.org/W4323316810","https://openalex.org/W4308198579","https://openalex.org/W2022031478"],"abstract_inverted_index":{"Juvenile":[0],"polyposis":[1,7,53],"syndrome":[2,8],"(JPS)":[3],"is":[4,45,95,108],"a":[5,12,49,61],"childhood":[6],"with":[9],"up":[10],"to":[11,97,110],"50%":[13],"lifetime":[14],"risk":[15],"of":[16,31,33,39,64,80,104],"gastrointestinal":[17],"cancer.":[18],"Germline":[19],"pathogenic":[20],"variants":[21],"in":[22,84,113],"BMPR1A":[23],"and":[24,57,94],"SMAD4":[25],"are":[26],"responsible":[27],"for":[28,36,51],"around":[29],"40%":[30],"cases":[32],"JPS,":[34],"but":[35],"the":[37,41,58,81,91,105],"majority":[38],"individuals,":[40],"underlying":[42],"genetic":[43],"cause":[44,111],"unknown.":[46],"We":[47,75,100],"identified":[48,76],"family":[50,86],"which":[52],"spanned":[54],"four":[55],"generations,":[56],"proband":[59],"had":[60],"clinical":[62],"diagnosis":[63],"JPS.":[65],"Next-generation":[66],"sequencing":[67,73],"was":[68],"conducted,":[69],"followed":[70],"by":[71],"Sanger":[72],"confirmation.":[74],"an":[77],"internal":[78],"deletion":[79],"FOCAD":[82,106],"gene":[83,107],"all":[85],"members":[87],"tested":[88],"that":[89,102],"altered":[90],"reading":[92],"frame":[93],"predicted":[96],"be":[98],"pathogenic.":[99],"conclude":[101],"inactivation":[103],"likely":[109],"JPS":[112],"this":[114],"family.":[115]},"counts_by_year":[{"year":2025,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-06-13T00:00:00"}
