{"id":"https://openalex.org/W2106760172","doi":null,"title":"HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.","display_name":"HFE, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis.","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W2106760172","mag":"2106760172","pmid":"https://pubmed.ncbi.nlm.nih.gov/16570681"},"language":"en","primary_location":{"id":"pmid:16570681","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16570681","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":"The National medical journal of India","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Priyanka Shukla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161370692","display_name":"Sanjay Gandhi Post Graduate Institute of Medical Sciences","ror":"https://ror.org/01rsgrz10","country_code":"IN","type":"facility","lineage":["https://openalex.org/I161370692"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Priyanka Shukla","raw_affiliation_strings":["Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India","institution_ids":["https://openalex.org/I161370692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080965579","display_name":"Sandeep Julka","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sandeep Julka","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091317038","display_name":"Eesh Bhatia","orcid":"https://orcid.org/0000-0001-7214-7640","observed_orcids":["https://orcid.org/0000-0001-7214-7640"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eesh Bhatia","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111768746","display_name":"Sudeep R. Shah","orcid":"https://orcid.org/0000-0002-7722-6716","observed_orcids":["https://orcid.org/0000-0002-7722-6716"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sudeep Shah","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045422342","display_name":"Aabha S. Nagral","orcid":"https://orcid.org/0000-0003-0005-2508","observed_orcids":["https://orcid.org/0000-0003-0005-2508"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aabha Nagral","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5001428430","display_name":"Rakesh Aggarwal","orcid":"https://orcid.org/0000-0001-9689-494X","observed_orcids":["https://orcid.org/0000-0001-9689-494X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rakesh Aggarwal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6086,"has_fulltext":false,"cited_by_count":14,"citation_normalized_percentile":{"value":0.70021659,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"19","issue":"1","first_page":"20","last_page":"3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T10452","display_name":"Iron Metabolism and Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hfe-gene","display_name":"HFE gene","score":0.8299999833106995},{"id":"https://openalex.org/keywords/hfe-c282y-mutation","display_name":"HFE C282Y mutation","score":0.8309999704360962},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":0.9679999947547913},{"id":"https://openalex.org/keywords/hepcidin","display_name":"hepcidin","score":0.8930000066757202},{"id":"https://openalex.org/keywords/ferroportin","display_name":"ferroportin","score":0.9990000128746033},{"id":"https://openalex.org/keywords/iron-overload","display_name":"iron overload","score":0.828000009059906},{"id":"https://openalex.org/keywords/iron-metabolism-genes","display_name":"iron metabolism genes","score":0.8199999928474426},{"id":"https://openalex.org/keywords/indian-patients","display_name":"Indian patients","score":0.6880000233650208},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6039999723434448}],"concepts":[{"id":"https://openalex.org/C2776768029","wikidata":"https://www.wikidata.org/wiki/Q14882371","display_name":"Hepcidin","level":3,"score":0.8373388051986694},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.8163073062896729},{"id":"https://openalex.org/C2776710925","wikidata":"https://www.wikidata.org/wiki/Q24777245","display_name":"Ferroportin","level":4,"score":0.797374427318573},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6632601022720337},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6337924003601074},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6047980785369873},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.5875643491744995},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5209739804267883},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4902673065662384},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4430692195892334},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38140857219696045},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2004184126853943},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.1439598798751831}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000098742","descriptor_name":"Ferroportin","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","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":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007501","descriptor_name":"Iron","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023181","descriptor_name":"Antimicrobial Cationic Peptides","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D027682","descriptor_name":"Cation Transport Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D064451","descriptor_name":"Hepcidins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:16570681","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16570681","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":"The National medical journal of India","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.497.8420","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.497.8420","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://nmji.in/archives/Volume_19_1_january_february2006/short_report/sr2hfehepcidin.pdf","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1999697457","https://openalex.org/W2002605005","https://openalex.org/W2007224829","https://openalex.org/W2013566167","https://openalex.org/W2023458969","https://openalex.org/W2025158365","https://openalex.org/W2027552281","https://openalex.org/W2038944724","https://openalex.org/W2044390778","https://openalex.org/W2049958833","https://openalex.org/W2052322686","https://openalex.org/W2083477710","https://openalex.org/W2086066157","https://openalex.org/W2088065444","https://openalex.org/W2114336287","https://openalex.org/W2116064842","https://openalex.org/W2126222122","https://openalex.org/W2133811201","https://openalex.org/W2140462651","https://openalex.org/W2149406240","https://openalex.org/W2152634212","https://openalex.org/W2164772551","https://openalex.org/W2168688720","https://openalex.org/W2335705178","https://openalex.org/W2341292512","https://openalex.org/W2342086861","https://openalex.org/W2402849794"],"related_works":["https://openalex.org/W2943364635","https://openalex.org/W2339120262","https://openalex.org/W2255581830","https://openalex.org/W2402849794","https://openalex.org/W1950269839","https://openalex.org/W806452294","https://openalex.org/W2185373422","https://openalex.org/W2010285535","https://openalex.org/W2078654159","https://openalex.org/W2085284338"],"abstract_inverted_index":{"BACKGROUND:":[0],"Primary":[1],"haemochromatosis":[2,83,238,259],"is":[3,13,42],"characterized":[4],"by":[5,97],"iron":[6,66],"overload":[7],"in":[8,15,34,58,65,68,104,118,143,153,192,203,226,241,260],"the":[9,35,40,45,59,100,106,110,130,154,169,207,222,227,242],"body":[10],"tissues.":[11],"It":[12],"common":[14],"populations":[16],"of":[17,25,102,109,168,206,221],"northern":[18],"European":[19],"descent.":[20],"In":[21,38],"such":[22],"populations,":[23],"85%-90%":[24],"patients":[26,70,76,171,235],"with":[27,49,71,81,236],"this":[28,187,213],"disease":[29,41],"have":[30],"a":[31,78,215],"C282Y":[32,131],"mutation":[33,140,177],"HFE":[36,60,111,145,155,174],"gene.":[37],"India,":[39],"uncommon":[43],"and":[44,61,88,113,124,161,200,231,245],"genetic":[46,249],"defects":[47],"associated":[48],"it":[50],"are":[51],"unknown.":[52],"We":[53],"therefore":[54],"looked":[55],"for":[56,99,114,229,257],"mutations":[57,103,117,152,225,240,255],"other":[62,139],"genes":[63,119,228],"involved":[64],"metabolism":[67],"Indian":[69],"primary":[72,82,237,258],"haemochromatosis.":[73],"METHODS:":[74],"Five":[75],"(including":[77],"brother-sister":[79],"pair)":[80],"diagnosed":[84],"on":[85],"clinical,":[86],"biochemical":[87],"histological":[89],"findings":[90],"were":[91,164],"studied.":[92],"Genomic":[93],"DNA":[94],"was":[95,141,189,201],"analysed":[96],"sequencing":[98],"presence":[101],"all":[105],"6":[107],"exons":[108],"gene":[112,156],"previously":[115,148,223],"described":[116,224],"encoding":[120],"hepcidin":[121,230,244],"antimicrobial":[122],"peptide":[123],"ferroportin.":[125,232],"RESULTS:":[126],"No":[127,138,217],"patient":[128,218],"had":[129,134,172,219],"mutation.":[132,137],"One":[133],"homozygous":[135,182],"H63D":[136],"found":[142],"any":[144,220],"exon.":[146],"Two":[147],"reported":[149],"splice":[150,175],"site":[151,176],"(IVS3":[157],"+":[158,179],"1":[159,205],"G/T":[160],"IVS5+1":[162],"G/A)":[163],"not":[165],"detected.":[166],"Four":[167],"5":[170],"an":[173],"(IVS2":[178],"4":[180],"T/C;":[181],"2,":[183],"heterozygous":[184,198],"2);":[185],"however,":[186],"change":[188],"as":[190],"frequent":[191],"29":[193],"healthy":[194],"subjects":[195],"(homozygous":[196],"9,":[197],"7),":[199],"present":[202],"only":[204],"sibling":[208],"pair":[209],"patients,":[210],"indicating":[211],"that":[212],"represented":[214],"polymorphism.":[216],"CONCLUSION:":[233],"Our":[234],"lacked":[239],"HFE,":[243],"ferroportin":[246],"genes.":[247],"Further":[248],"analysis":[250],"may":[251],"help":[252],"identify":[253],"novel":[254],"responsible":[256],"these":[261],"patients.":[262]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}