{"id":"https://openalex.org/W2004173594","doi":"https://doi.org/10.1111/j.1365-2265.2006.02672.x","title":"Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene","display_name":"Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene","publication_year":2006,"publication_date":"2006-09-08","ids":{"openalex":"https://openalex.org/W2004173594","doi":"https://doi.org/10.1111/j.1365-2265.2006.02672.x","mag":"2004173594","pmid":"https://pubmed.ncbi.nlm.nih.gov/17121535"},"language":"en","primary_location":{"id":"doi:10.1111/j.1365-2265.2006.02672.x","doi":"https://doi.org/10.1111/j.1365-2265.2006.02672.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2265.2006.02672.x","pdf_url":null,"source":{"id":"https://openalex.org/S182143151","display_name":"Clinical Endocrinology","issn_l":"0300-0664","issn":["0300-0664","1365-2265"],"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-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Endocrinology","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/A5054109395","display_name":"Nicole Pfarr","orcid":"https://orcid.org/0000-0002-5977-5375","observed_orcids":["https://orcid.org/0000-0002-5977-5375"]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Nicole Pfarr","raw_affiliation_strings":["Children's Hospital of the Johannes Gutenberg University, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of the Johannes Gutenberg University, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046070602","display_name":"Eckhard Korsch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eckhard Korsch","raw_affiliation_strings":["Children's Hospital, Amsterdamer Strasse, Ko\u0308ln, and","Children's Hospital, Amsterdamer Strasse, K\u00f6ln, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, Amsterdamer Strasse, Ko\u0308ln, and","institution_ids":[]},{"raw_affiliation_string":"Children's Hospital, Amsterdamer Strasse, K\u00f6ln, and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060236174","display_name":"Stefan Kaspers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155030","display_name":"Klinikum Leverkusen","ror":"https://ror.org/05mt2wq31","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210155030"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Kaspers","raw_affiliation_strings":["Department of Paediatrics, Klinikum Leverkusen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Klinikum Leverkusen, Germany","institution_ids":["https://openalex.org/I4210155030"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111851125","display_name":"Antje Herbst","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155030","display_name":"Klinikum Leverkusen","ror":"https://ror.org/05mt2wq31","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210155030"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Antje Herbst","raw_affiliation_strings":["Department of Paediatrics, Klinikum Leverkusen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Klinikum Leverkusen, Germany","institution_ids":["https://openalex.org/I4210155030"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059577518","display_name":"A Stach","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155030","display_name":"Klinikum Leverkusen","ror":"https://ror.org/05mt2wq31","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210155030"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Armin Stach","raw_affiliation_strings":["Department of Paediatrics, Klinikum Leverkusen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Klinikum Leverkusen, Germany","institution_ids":["https://openalex.org/I4210155030"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Claudia Zimmer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Claudia Zimmer","raw_affiliation_strings":["Children's Hospital of the Johannes Gutenberg University, Mainz,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of the Johannes Gutenberg University, Mainz,","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079486260","display_name":"Joachim Pohlenz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Joachim Pohlenz","raw_affiliation_strings":["Children's Hospital of the Johannes Gutenberg University, Mainz,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of the Johannes Gutenberg University, Mainz,","institution_ids":["https://openalex.org/I4210094062"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5079486260"],"corresponding_institution_ids":["https://openalex.org/I4210094062"],"apc_list":{"value":4250,"currency":"USD","value_usd":4250},"apc_paid":null,"fwci":2.3554,"has_fulltext":false,"cited_by_count":50,"citation_normalized_percentile":{"value":0.88327098,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"65","issue":"6","first_page":"810","last_page":"815"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10293","display_name":"Thyroid Disorders and Treatments","score":0.9926999807357788,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10293","display_name":"Thyroid Disorders and Treatments","score":0.9926999807357788,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0024999999441206455,"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/T10329","display_name":"Thyroid Cancer Diagnosis and Treatment","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/congenital-hypothyroidism","display_name":"congenital hypothyroidism","score":0.9599999785423279},{"id":"https://openalex.org/keywords/thyroid-dyshormonogenesis","display_name":"dyshormonogenesis","score":0.859000027179718},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.621999979019165},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.875},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.8980000019073486},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8429999947547913},{"id":"https://openalex.org/keywords/thyroid-peroxidase","display_name":"thyroid peroxidase","score":0.7850000262260437},{"id":"https://openalex.org/keywords/pendrin","display_name":"pendrin","score":0.9539999961853027},{"id":"https://openalex.org/keywords/sodium-iodide-symporter","display_name":"sodium iodide symporter","score":0.9890000224113464},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.6100000143051147}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8310060501098633},{"id":"https://openalex.org/C2779258352","wikidata":"https://www.wikidata.org/wiki/Q531012","display_name":"Congenital hypothyroidism","level":3,"score":0.6580023765563965},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.611827552318573},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.5812239050865173},{"id":"https://openalex.org/C2777195454","wikidata":"https://www.wikidata.org/wiki/Q16399","display_name":"Euthyroid","level":3,"score":0.5614019632339478},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.515140175819397},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.503515899181366},{"id":"https://openalex.org/C526584372","wikidata":"https://www.wikidata.org/wiki/Q16399","display_name":"Thyroid","level":2,"score":0.5024375915527344},{"id":"https://openalex.org/C180650514","wikidata":"https://www.wikidata.org/wiki/Q419502","display_name":"Thyroid peroxidase","level":3,"score":0.5005769729614258},{"id":"https://openalex.org/C2777399954","wikidata":"https://www.wikidata.org/wiki/Q24786398","display_name":"Pendrin","level":4,"score":0.4711514711380005},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46200817823410034},{"id":"https://openalex.org/C2780616701","wikidata":"https://www.wikidata.org/wiki/Q1738547","display_name":"Sodium-iodide symporter","level":5,"score":0.42475053668022156},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41849544644355774},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3920331299304962},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.39143821597099304},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.36348891258239746},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3113183081150055},{"id":"https://openalex.org/C120405084","wikidata":"https://www.wikidata.org/wiki/Q285307","display_name":"Symporter","level":4,"score":0.1547514796257019},{"id":"https://openalex.org/C149011108","wikidata":"https://www.wikidata.org/wiki/Q652985","display_name":"Transporter","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000074623","descriptor_name":"Dual Oxidases","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":"D003409","descriptor_name":"Congenital Hypothyroidism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005420","descriptor_name":"Flavoproteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015997","descriptor_name":"Neonatal Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019255","descriptor_name":"NADPH Oxidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1365-2265.2006.02672.x","doi":"https://doi.org/10.1111/j.1365-2265.2006.02672.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1365-2265.2006.02672.x","pdf_url":null,"source":{"id":"https://openalex.org/S182143151","display_name":"Clinical Endocrinology","issn_l":"0300-0664","issn":["0300-0664","1365-2265"],"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-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Endocrinology","raw_type":"journal-article"},{"id":"pmid:17121535","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17121535","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":"Clinical endocrinology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1556304298","https://openalex.org/W1975150854","https://openalex.org/W1994582012","https://openalex.org/W1997475375","https://openalex.org/W2035243143","https://openalex.org/W2049197100","https://openalex.org/W2072972271","https://openalex.org/W2077339198","https://openalex.org/W2091758983","https://openalex.org/W2108259288","https://openalex.org/W2135807555","https://openalex.org/W2151410031","https://openalex.org/W2155083127","https://openalex.org/W2158875146","https://openalex.org/W2327543792"],"related_works":["https://openalex.org/W2006945107","https://openalex.org/W2483184435","https://openalex.org/W2327543792","https://openalex.org/W2172523649","https://openalex.org/W7217064954","https://openalex.org/W4228996685","https://openalex.org/W2028883966","https://openalex.org/W2803472269","https://openalex.org/W2473426560","https://openalex.org/W1844569350"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Congenital":[1],"primary":[2],"hypothyroidism":[3],"(CH)":[4],"occurs":[5],"in":[6,12,23,38,73,101,109,137,182,191,238,242,255],"one":[7,183],"of":[8,14,35,80,121,133,155,185,211,236,253],"4000":[9],"births":[10],"and":[11,55,78,140,175,190,215],"20%":[13],"the":[15,32,74,102,156,159,164,186,195,208,212,233,239,243,250],"cases":[16],"CH":[17,72,237,254],"is":[18],"due":[19],"to":[20,30,70,86],"a":[21,95,110,114,138,141,152,192],"defect":[22],"thyroid":[24,46,56,82,259],"hormonogenesis.":[25],"Candidate":[26],"genes":[27,42,217],"were":[28,60,84,177],"examined":[29],"determine":[31],"precise":[33],"aetiology":[34],"suspected":[36,79],"dyshormonogenesis":[37,83],"CH.":[39],"DESIGN:":[40],"The":[41,147,222],"that":[43,112,128],"code":[44],"for":[45,163,200],"peroxidase":[47],"(TPO),":[48],"pendrin":[49],"(PDS),":[50],"sodium":[51],"iodide":[52],"symporter":[53],"(NIS)":[54],"oxidase":[57],"2":[58],"(THOX2)":[59],"sequenced":[61],"directly":[62],"from":[63,124],"genomic":[64],"DNA.":[65],"PATIENTS:":[66],"Two":[67],"girls":[68],"found":[69],"have":[71,227],"neonatal":[75],"screening":[76],"programme":[77],"having":[81],"investigated":[85],"identify":[87],"their":[88],"molecular":[89,251],"defect.":[90],"RESULTS:":[91],"Patient":[92],"A":[93],"had":[94],"novel":[96],"heterozygous":[97,153,172,199],"1":[98],"bp":[99],"insertion":[100,107],"THOX2":[103,166,224,244],"gene":[104,245],"(ins602g).":[105],"This":[106],"results":[108],"frameshift":[111,139],"predicts":[113],"premature":[115,142],"stop":[116,143],"at":[117,144],"codon":[118,145],"300.":[119],"Analysis":[120],"cDNA,":[122],"transcribed":[123],"lymphocyte":[125],"RNA,":[126],"showed":[127],"this":[129],"mutation":[130,157],"causes":[131,235],"skipping":[132],"exon":[134],"5,":[135],"resulting":[136],"254.":[146],"euthyroid":[148,196],"mother":[149,189],"was":[150,161,180,198],"also":[151],"carrier":[154],"whereas":[158,194],"father":[160,197],"homozygous":[162],"wild-type":[165],"gene.":[167],"In":[168],"patient":[169],"B,":[170],"compound":[171],"mutations":[173],"(ins602g-->fsX300":[174],"D506N)":[176],"identified.":[178],"D506N":[179],"present":[181],"allele":[184],"clinically":[187],"unaffected":[188],"brother,":[193],"ins602g.":[201],"Sixty":[202],"normal":[203],"individuals":[204],"did":[205],"not":[206,228],"harbour":[207],"mutations.":[209,220],"Sequencing":[210],"TPO,":[213],"PDS":[214],"NIS":[216],"revealed":[218],"no":[219],"CONCLUSIONS:":[221],"identified":[223],"mutations,":[225],"which":[226],"been":[229],"described":[230],"previously,":[231],"are":[232],"probable":[234],"patients.":[240],"Mutations":[241],"should":[246],"be":[247],"considered":[248],"as":[249],"cause":[252],"young":[256],"patients":[257],"with":[258],"dyshormonogenesis.":[260]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
