{"id":"https://openalex.org/W2581297585","doi":"https://doi.org/10.1111/nep.13008","title":"Mutations in TTC21B cause different phenotypes in two childhood cases in China","display_name":"Mutations in TTC21B cause different phenotypes in two childhood cases in China","publication_year":2017,"publication_date":"2017-01-26","ids":{"openalex":"https://openalex.org/W2581297585","doi":"https://doi.org/10.1111/nep.13008","mag":"2581297585","pmid":"https://pubmed.ncbi.nlm.nih.gov/28124483"},"language":"en","primary_location":{"id":"doi:10.1111/nep.13008","doi":"https://doi.org/10.1111/nep.13008","is_oa":false,"landing_page_url":"https://doi.org/10.1111/nep.13008","pdf_url":null,"source":{"id":"https://openalex.org/S99619495","display_name":"Nephrology","issn_l":"1320-5358","issn":["1320-5358","1440-1797"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Nephrology","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/A5100670034","display_name":"Hongwen Zhang","orcid":"https://orcid.org/0000-0003-2735-6384","observed_orcids":["https://orcid.org/0000-0003-2735-6384"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Hongwen Zhang","raw_affiliation_strings":["Department of Pediatric Peking University First Hospital Beijing China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Peking University First Hospital Beijing China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087109289","display_name":"Baige Su","orcid":"https://orcid.org/0000-0001-7776-4322","observed_orcids":["https://orcid.org/0000-0001-7776-4322"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Baige Su","raw_affiliation_strings":["Department of Pediatric Peking University First Hospital Beijing China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Peking University First Hospital Beijing China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100455481","display_name":"Xiaoyu Liu","orcid":"https://orcid.org/0009-0001-2842-3940","observed_orcids":["https://orcid.org/0009-0001-2842-3940"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoyu Liu","raw_affiliation_strings":["Department of Pediatric Peking University First Hospital Beijing China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Peking University First Hospital Beijing China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100544057","display_name":"Huijie Xiao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Huijie Xiao","raw_affiliation_strings":["Department of Pediatric Peking University First Hospital Beijing China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Peking University First Hospital Beijing China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100625885","display_name":"Jie Ding","orcid":"https://orcid.org/0000-0001-9162-7850","observed_orcids":["https://orcid.org/0000-0001-9162-7850"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jie Ding","raw_affiliation_strings":["Department of Pediatric Peking University First Hospital Beijing China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Peking University First Hospital Beijing China","institution_ids":["https://openalex.org/I4210130930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103067957","display_name":"Yong Ming Yao","orcid":"https://orcid.org/0000-0002-5816-6578","observed_orcids":["https://orcid.org/0000-0002-5816-6578"]},"institutions":[{"id":"https://openalex.org/I4210130930","display_name":"Peking University First Hospital","ror":"https://ror.org/02z1vqm45","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210130930"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yong Yao","raw_affiliation_strings":["Department of Pediatric Peking University First Hospital Beijing China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Peking University First Hospital Beijing China","institution_ids":["https://openalex.org/I4210130930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5103067957"],"corresponding_institution_ids":["https://openalex.org/I4210130930"],"apc_list":{"value":4110,"currency":"USD","value_usd":4110},"apc_paid":null,"fwci":1.0814,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.75330305,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"23","issue":"4","first_page":"371","last_page":"376"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9984999895095825,"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory 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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":9.999999747378752e-05,"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/ttc21b","display_name":"TTC21B","score":0.9399999976158142},{"id":"https://openalex.org/keywords/end-stage-renal-disease","display_name":"end-stage renal disease","score":0.7680000066757202},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6840000152587891},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8399999737739563},{"id":"https://openalex.org/keywords/nephrotic-range-proteinuria","display_name":"nephrotic-range proteinuria","score":0.871999979019165},{"id":"https://openalex.org/keywords/focal-segmental-glomerulosclerosis","display_name":"focal segmental glomerulosclerosis","score":0.972000002861023},{"id":"https://openalex.org/keywords/tubulointerstitial-fibrosis","display_name":"tubulointerstitial fibrosis","score":0.7960000038146973},{"id":"https://openalex.org/keywords/liver-fibrosis","display_name":"liver fibrosis","score":0.800000011920929},{"id":"https://openalex.org/keywords/situs-inversus","display_name":"situs inversus","score":0.9559999704360962},{"id":"https://openalex.org/keywords/chinese-patients","display_name":"Chinese patients","score":0.781000018119812}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8516533970832825},{"id":"https://openalex.org/C2778215940","wikidata":"https://www.wikidata.org/wiki/Q1257011","display_name":"Nephronophthisis","level":4,"score":0.7408745288848877},{"id":"https://openalex.org/C2780561973","wikidata":"https://www.wikidata.org/wiki/Q203031","display_name":"Ciliopathy","level":4,"score":0.7126995325088501},{"id":"https://openalex.org/C2776366509","wikidata":"https://www.wikidata.org/wiki/Q1395683","display_name":"Congenital hepatic fibrosis","level":4,"score":0.5960327386856079},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5533063411712646},{"id":"https://openalex.org/C2910547607","wikidata":"https://www.wikidata.org/wiki/Q3395618","display_name":"Autosomal Recessive Polycystic Kidney Disease","level":4,"score":0.4990701675415039},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4939790368080139},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.492631733417511},{"id":"https://openalex.org/C2778930706","wikidata":"https://www.wikidata.org/wiki/Q504790","display_name":"Nephrotic syndrome","level":2,"score":0.4615367352962494},{"id":"https://openalex.org/C2779104077","wikidata":"https://www.wikidata.org/wiki/Q1456383","display_name":"Situs inversus","level":2,"score":0.43381327390670776},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.42358750104904175},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.41531866788864136},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.405487596988678},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3255297541618347},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.29704979062080383},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2308567762374878},{"id":"https://openalex.org/C2778808290","wikidata":"https://www.wikidata.org/wiki/Q124604","display_name":"Portal hypertension","level":3,"score":0.1903775930404663},{"id":"https://openalex.org/C2780145431","wikidata":"https://www.wikidata.org/wiki/Q15443105","display_name":"Polycystic kidney disease","level":3,"score":0.1395719051361084},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11940231919288635},{"id":"https://openalex.org/C2777214474","wikidata":"https://www.wikidata.org/wiki/Q147778","display_name":"Cirrhosis","level":2,"score":0.11107459664344788}],"mesh":[{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005923","descriptor_name":"Glomerulosclerosis, Focal Segmental","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007676","descriptor_name":"Kidney Failure, Chronic","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D052177","descriptor_name":"Kidney Diseases, Cystic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/nep.13008","doi":"https://doi.org/10.1111/nep.13008","is_oa":false,"landing_page_url":"https://doi.org/10.1111/nep.13008","pdf_url":null,"source":{"id":"https://openalex.org/S99619495","display_name":"Nephrology","issn_l":"1320-5358","issn":["1320-5358","1440-1797"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Nephrology","raw_type":"journal-article"},{"id":"pmid:28124483","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28124483","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":"Nephrology (Carlton, Vic.)","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1547909473","https://openalex.org/W2009022368","https://openalex.org/W2014221038","https://openalex.org/W2021556008","https://openalex.org/W2038123543","https://openalex.org/W2060397371","https://openalex.org/W2088504762","https://openalex.org/W2093964879","https://openalex.org/W2094202545","https://openalex.org/W2131245032","https://openalex.org/W2133063699","https://openalex.org/W2163277569","https://openalex.org/W2334924190","https://openalex.org/W2342797458","https://openalex.org/W2510019586","https://openalex.org/W4246217303"],"related_works":["https://openalex.org/W3014886782","https://openalex.org/W2986600998","https://openalex.org/W3024526558","https://openalex.org/W2334924190","https://openalex.org/W4233926380","https://openalex.org/W4306911865","https://openalex.org/W4289960169","https://openalex.org/W4200059789","https://openalex.org/W3212922792","https://openalex.org/W4416732179"],"abstract_inverted_index":{"AIM:":[0],"The":[1,33,56],"TTC21B":[2,29,48,119,152,165,186],"gene":[3,30,49],"is":[4,183],"now":[5],"known":[6],"as":[7],"causative":[8],"of":[9,36,46,156],"nephronophthisis-related":[10],"ciliopathies":[11],"(NPHP-RC).":[12],"We":[13,161],"reported":[14,189],"two":[15,57,168],"Chinese":[16,37,169],"paediatric":[17,38,170],"cases":[18,39,58,171],"with":[19,40,107],"end-stage":[20,84,175],"renal":[21,63,85,98,176],"disease":[22,86,177],"and":[23,66,79,92,113,146,178],"other":[24,135,179],"phenotypes":[25,158],"caused":[26],"by":[27],"the":[28,47,134,184],"mutations.":[31],"METHODS:":[32],"clinical":[34],"features":[35],"NPHP-RC":[41],"were":[42,121],"summarized.":[43],"Mutation":[44],"analysis":[45],"was":[50],"performed":[51],"using":[52],"next-generation":[53],"sequencing.":[54],"RESULTS:":[55],"both":[59,100,173],"had":[60],"nephrotic":[61],"proteinuria,":[62],"failure,":[64],"hypertension":[65],"abnormal":[67],"liver":[68],"function":[69],"(or":[70],"hepatic":[71],"fibrosis).":[72],"One":[73,123],"case":[74,124,136],"also":[75],"presented":[76,174],"situs":[77],"inversus":[78],"short":[80],"phalanges.":[81],"They":[82],"developed":[83],"(ESRD)":[87],"at":[88],"1":[89],"year":[90],"old":[91],"8":[93],"years":[94],"old,":[95],"respectively,":[96],"when":[97],"pathology":[99],"showed":[101],"focal":[102],"segmental":[103],"glomerular":[104],"sclerosis":[105],"(FSGS)":[106],"tubulointerstitial":[108],"lesions":[109],"including":[110],"interstitial":[111],"fibrosis":[112],"atrophic":[114],"tubules.":[115],"Three":[116],"novel":[117,164],"disease-causing":[118],"mutations":[120,140,166,187],"identified.":[122],"carried":[125,137],"homozygous":[126],"mutation":[127],"c.2211":[128],"+":[129],"3A":[130],">":[131,143],"G,":[132],"while":[133],"compound":[138],"heterozygous":[139],"c.1552":[141],"T":[142],"C":[144],"(p.C518R)":[145],"c.1456dupA":[147],"(p.R486KfsX22).":[148],"CONCLUSION:":[149],"Mutations":[150],"in":[151,159,167,190],"cause":[153],"a":[154],"range":[155],"ciliopathy":[157],"humans.":[160],"identified":[162],"3":[163],"that":[172],"different":[180],"features.":[181],"This":[182],"first":[185],"ever":[188],"China.":[191]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2017-02-03T00:00:00"}
