{"id":"https://openalex.org/W2473038809","doi":null,"title":"Investigations on potential digenic HAMP (hepcidin) and HFE haemochromatosis gene mutations in the development of iron overload in Irish patients with dilated cardiomyopathy","display_name":"Investigations on potential digenic HAMP (hepcidin) and HFE haemochromatosis gene mutations in the development of iron overload in Irish patients with dilated cardiomyopathy","publication_year":2016,"publication_date":"2016-05-15","ids":{"openalex":"https://openalex.org/W2473038809","mag":"2473038809"},"language":"en","primary_location":{"id":"pmh:oai:eprints.uwe.ac.uk:25518","doi":null,"is_oa":true,"landing_page_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","pdf_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","source":{"id":"https://openalex.org/S4306401464","display_name":"UWE Research Repository (UWE Bristol)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I178535277","host_organization_name":"University of the West of England","host_organization_lineage":["https://openalex.org/I178535277"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5071181582","display_name":"Noel Abique Jereza","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Noel Abique Jereza","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5071181582"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9984999895095825,"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":0.9984999895095825,"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":0.00039999998989515007,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/iron-overload-cardiomyopathy","display_name":"iron overload cardiomyopathy","score":0.9779999852180481},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.9869999885559082},{"id":"https://openalex.org/keywords/hfe-mutations","display_name":"HFE gene mutations","score":0.5519999861717224},{"id":"https://openalex.org/keywords/hepcidin","display_name":"hepcidin","score":0.9150000214576721},{"id":"https://openalex.org/keywords/digenic-inheritance","display_name":"digenic inheritance","score":0.7049999833106995},{"id":"https://openalex.org/keywords/serum-ferritin","display_name":"serum ferritin","score":0.7260000109672546},{"id":"https://openalex.org/keywords/transferrin-saturation","display_name":"transferrin saturation","score":0.9860000014305115},{"id":"https://openalex.org/keywords/troponin-i","display_name":"troponin I","score":0.9129999876022339},{"id":"https://openalex.org/keywords/creatine-kinase","display_name":"creatine kinase","score":0.9959999918937683},{"id":"https://openalex.org/keywords/irish-population","display_name":"Irish population","score":0.5979999899864197}],"concepts":[{"id":"https://openalex.org/C2777588556","wikidata":"https://www.wikidata.org/wiki/Q14882371","display_name":"HAMP","level":4,"score":0.7776992321014404},{"id":"https://openalex.org/C2776768029","wikidata":"https://www.wikidata.org/wiki/Q14882371","display_name":"Hepcidin","level":3,"score":0.7201653718948364},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.714661717414856},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6535951495170593},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.6365841627120972},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.55698162317276},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.5520711541175842},{"id":"https://openalex.org/C2778319317","wikidata":"https://www.wikidata.org/wiki/Q22327449","display_name":"Ferritin","level":2,"score":0.5326867699623108},{"id":"https://openalex.org/C78085059","wikidata":"https://www.wikidata.org/wiki/Q641303","display_name":"Ejection fraction","level":3,"score":0.530170202255249},{"id":"https://openalex.org/C153852466","wikidata":"https://www.wikidata.org/wiki/Q907072","display_name":"Transferrin saturation","level":4,"score":0.5073654055595398},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4964016079902649},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.4886532127857208},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.4548500180244446},{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.44589167833328247},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.27187803387641907},{"id":"https://openalex.org/C2777417653","wikidata":"https://www.wikidata.org/wiki/Q1313081","display_name":"Iron deficiency","level":3,"score":0.27125057578086853},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:eprints.uwe.ac.uk:25518","doi":null,"is_oa":true,"landing_page_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","pdf_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","source":{"id":"https://openalex.org/S4306401464","display_name":"UWE Research Repository (UWE Bristol)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I178535277","host_organization_name":"University of the West of England","host_organization_lineage":["https://openalex.org/I178535277"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"pmh:oai:uwe-repository.worktribe.com:911991","doi":null,"is_oa":true,"landing_page_url":"https://uwe-repository.worktribe.com/output/911991","pdf_url":"https://uwe-repository.worktribe.com/preview/911995/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","source":{"id":"https://openalex.org/S4306401464","display_name":"UWE Research Repository (UWE Bristol)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I178535277","host_organization_name":"University of the West of England","host_organization_lineage":["https://openalex.org/I178535277"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},{"id":"mag:2473038809","doi":null,"is_oa":false,"landing_page_url":"http://eprints.uwe.ac.uk/25518/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:eprints.uwe.ac.uk:25518","doi":null,"is_oa":true,"landing_page_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","pdf_url":"http://eprints.uwe.ac.uk/25518/12/Final%20Repository%20DBMS%20Thesis%202016%20-%20Noel%20Jereza%2006978531.pdf","source":{"id":"https://openalex.org/S4306401464","display_name":"UWE Research Repository (UWE Bristol)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I178535277","host_organization_name":"University of the West of England","host_organization_lineage":["https://openalex.org/I178535277"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"sustainable_development_goals":[{"score":0.9940000176429749,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2473038809.pdf","grobid_xml":"https://content.openalex.org/works/W2473038809.grobid-xml"},"referenced_works_count":189,"referenced_works":["https://openalex.org/W1677338","https://openalex.org/W74575637","https://openalex.org/W96621201","https://openalex.org/W153886182","https://openalex.org/W166589975","https://openalex.org/W1521360886","https://openalex.org/W1523578038","https://openalex.org/W1544106935","https://openalex.org/W1559929479","https://openalex.org/W1565633801","https://openalex.org/W1568912715","https://openalex.org/W1586695508","https://openalex.org/W1621595817","https://openalex.org/W1842973738","https://openalex.org/W1880301439","https://openalex.org/W1967923317","https://openalex.org/W1968215209","https://openalex.org/W1968966906","https://openalex.org/W1972647898","https://openalex.org/W1972856320","https://openalex.org/W1973041976","https://openalex.org/W1974171150","https://openalex.org/W1974718993","https://openalex.org/W1975957587","https://openalex.org/W1976248899","https://openalex.org/W1976890253","https://openalex.org/W1978815356","https://openalex.org/W1979733076","https://openalex.org/W1982066352","https://openalex.org/W1990330893","https://openalex.org/W1990607819","https://openalex.org/W1990987251","https://openalex.org/W1992491894","https://openalex.org/W1996286752","https://openalex.org/W2001259809","https://openalex.org/W2002605005","https://openalex.org/W2003847764","https://openalex.org/W2004024681","https://openalex.org/W2006010726","https://openalex.org/W2007959325","https://openalex.org/W2011256637","https://openalex.org/W2011262372","https://openalex.org/W2014483392","https://openalex.org/W2015091541","https://openalex.org/W2018391935","https://openalex.org/W2019044547","https://openalex.org/W2019166705","https://openalex.org/W2019211967","https://openalex.org/W2022583406","https://openalex.org/W2025063713","https://openalex.org/W2025158365","https://openalex.org/W2025828538","https://openalex.org/W2026223258","https://openalex.org/W2027661581","https://openalex.org/W2027787845","https://openalex.org/W2028599129","https://openalex.org/W2029836132","https://openalex.org/W2031496282","https://openalex.org/W2033126307","https://openalex.org/W2033565692","https://openalex.org/W2037635331","https://openalex.org/W2037749245","https://openalex.org/W2044390778","https://openalex.org/W2045143786","https://openalex.org/W2045989787","https://openalex.org/W2046985899","https://openalex.org/W2047558252","https://openalex.org/W2047737604","https://openalex.org/W2048448975","https://openalex.org/W2049877822","https://openalex.org/W2051228751","https://openalex.org/W2051521078","https://openalex.org/W2052224618","https://openalex.org/W2052952037","https://openalex.org/W2053423632","https://openalex.org/W2053639202","https://openalex.org/W2054262369","https://openalex.org/W2054687040","https://openalex.org/W2055012964","https://openalex.org/W2056282179","https://openalex.org/W2056588489","https://openalex.org/W2056668549","https://openalex.org/W2057174913","https://openalex.org/W2060648861","https://openalex.org/W2061035099","https://openalex.org/W2061390170","https://openalex.org/W2061815566","https://openalex.org/W2061817198","https://openalex.org/W2061900539","https://openalex.org/W2062402155","https://openalex.org/W2062933691","https://openalex.org/W2064625754","https://openalex.org/W2065176072","https://openalex.org/W2065724905","https://openalex.org/W2065861817","https://openalex.org/W2068251811","https://openalex.org/W2068337287","https://openalex.org/W2068776552","https://openalex.org/W2069403704","https://openalex.org/W2074459245","https://openalex.org/W2078324648","https://openalex.org/W2080397690","https://openalex.org/W2081438792","https://openalex.org/W2081442441","https://openalex.org/W2081808001","https://openalex.org/W2083203368","https://openalex.org/W2083867296","https://openalex.org/W2084474350","https://openalex.org/W2085766609","https://openalex.org/W2087165372","https://openalex.org/W2087744489","https://openalex.org/W2087747398","https://openalex.org/W2087806880","https://openalex.org/W2088065444","https://openalex.org/W2090942619","https://openalex.org/W2091028002","https://openalex.org/W2092730584","https://openalex.org/W2094765038","https://openalex.org/W2096770796","https://openalex.org/W2097321850","https://openalex.org/W2097484170","https://openalex.org/W2098058233","https://openalex.org/W2100336830","https://openalex.org/W2104502908","https://openalex.org/W2106964564","https://openalex.org/W2108614142","https://openalex.org/W2111382860","https://openalex.org/W2112980912","https://openalex.org/W2114015514","https://openalex.org/W2116064842","https://openalex.org/W2116239421","https://openalex.org/W2118627464","https://openalex.org/W2120579517","https://openalex.org/W2124879534","https://openalex.org/W2125290890","https://openalex.org/W2126533417","https://openalex.org/W2126744499","https://openalex.org/W2126989415","https://openalex.org/W2128079102","https://openalex.org/W2129302503","https://openalex.org/W2130382251","https://openalex.org/W2132981535","https://openalex.org/W2133811201","https://openalex.org/W2135302420","https://openalex.org/W2136181367","https://openalex.org/W2136658802","https://openalex.org/W2138427242","https://openalex.org/W2139639233","https://openalex.org/W2140419562","https://openalex.org/W2141589192","https://openalex.org/W2142833570","https://openalex.org/W2143210482","https://openalex.org/W2144562438","https://openalex.org/W2144713478","https://openalex.org/W2145245298","https://openalex.org/W2145497678","https://openalex.org/W2146601153","https://openalex.org/W2147373534","https://openalex.org/W2148362837","https://openalex.org/W2149456232","https://openalex.org/W2152634212","https://openalex.org/W2153821576","https://openalex.org/W2154373472","https://openalex.org/W2155244168","https://openalex.org/W2155631919","https://openalex.org/W2157296374","https://openalex.org/W2159240349","https://openalex.org/W2159294156","https://openalex.org/W2161089523","https://openalex.org/W2161364164","https://openalex.org/W2161998284","https://openalex.org/W2163364365","https://openalex.org/W2165551729","https://openalex.org/W2165680505","https://openalex.org/W2168051647","https://openalex.org/W2171122128","https://openalex.org/W2171526567","https://openalex.org/W2173001239","https://openalex.org/W2178313645","https://openalex.org/W2313808212","https://openalex.org/W2315633478","https://openalex.org/W2318201098","https://openalex.org/W2322121630","https://openalex.org/W2328347005","https://openalex.org/W2341292512","https://openalex.org/W2341553089","https://openalex.org/W2400183682","https://openalex.org/W2415188534","https://openalex.org/W4327673320"],"related_works":["https://openalex.org/W203902893","https://openalex.org/W2004024681","https://openalex.org/W4385672936","https://openalex.org/W7197027014","https://openalex.org/W2126744499","https://openalex.org/W3161049654","https://openalex.org/W2020944467","https://openalex.org/W6940777348","https://openalex.org/W2050859816","https://openalex.org/W2225067298"],"abstract_inverted_index":{"Iron":[0],"overload":[1,101,114,380],"cardiomyopathy":[2,102,115,240,400],"(IOC)":[3,116],"has":[4,154],"been":[5,155],"recently":[6],"described":[7],"as":[8,41,371],"a":[9,30,219,268,303,358,375,405,426],"dilated":[10,239,399],"cardiomyopathy,":[11],"characterized":[12],"by":[13],"left":[14],"ventricular":[15],"(LV)":[16],"remodelling":[17],"with":[18,247,261,331,346,398],"chamber":[19],"dilatation":[20],"and":[21,76,81,106,160,175,184,189,195,204,233,242,250,263,283,287,321,327,334,348,353,370,386,390,401,417],"reduced":[22],"LV":[23,55],"ejection":[24],"fraction":[25],"(LVEF).":[26],"However,":[27],"primary":[28],"haemochromatosis,":[29],"genetically":[31],"determined":[32],"condition":[33,369],"leading":[34],"to":[35,52,96,151,374],"iron":[36,100,113,178,225,272,379],"overload,":[37],"is":[38,66,120,267,357,425],"classically":[39],"categorized":[40],"an":[42],"infiltrative":[43],"cause":[44],"of":[45,61,79,90,99,112,124,126,170,191,215,224,271,294,299,308,318,361,378,384,408,411,433],"cardiomyopathy.":[46],"Moreover,":[47],"secondary":[48],"haemochromatosis":[49],"may":[50,135,162],"lead":[51,95],"severe":[53],"diastolic":[54],"dysfunction":[56],"in":[57,117,130,238,325,420],"the":[58,62,73,88,131,168,192,210,281,292,309,315,368,394],"early":[59,158],"stages":[60],"disease,":[63],"before":[64],"LVEF":[65],"affected.":[67],"In":[68,165],"this":[69,166,216,300,421],"study,":[70],"we":[71],"describe":[72],"forms,":[74],"pathophysiology,":[75],"genotypic":[77,382],"expressions":[78,383],"HFE":[80,193,248,285,332,385],"hepcidin":[82,196,236],"(HAMP)":[83],"gene":[84,199],"mutations":[85,200],"focusing":[86],"on":[87],"possibility":[89],"digenic":[91,409],"occurrence":[92,410],"that":[93,148,157,265,355,366,392,423],"could":[94],"potential":[97,376],"development":[98,377],"among":[103,393],"Irish":[104,118,211,395],"patients":[105,134,141,241,326,396],"their":[107,402],"direct":[108,243,328],"family":[109,244,329,403],"members.The":[110],"prevalence":[111],"population":[119],"increasing.":[121],"The":[122,414],"spectrum":[123],"symptoms":[125,276],"IOC":[127],"varied.":[128],"Early":[129],"disease":[132],"process,":[133],"be":[136],"asymptomatic,":[137],"whereas":[138],"severely":[139],"overloaded":[140],"can":[142],"have":[143],"terminal":[144],"heart":[145],"failure":[146],"complaints":[147,350],"are":[149],"refractory":[150],"treatment.":[152],"It":[153],"shown":[156],"recognition":[159],"intervention":[161],"alter":[163],"outcomes.":[164],"study":[167,217,301,422],"combination":[169],"cardiac":[171,311,349,362],"biomarkers":[172],"(troponin":[173],"I":[174],"creatine":[176,322],"kinase),":[177],"studies":[179,273],"(serum":[180],"ferritin,":[181],"serum":[182,227,235,319],"hepcidin,":[183],"transferin":[185,231],"saturation)":[186],"level":[187,270,317,360],"determinations":[188],"genotyping":[190],"(C282Y/H63D)":[194],"HAMP":[197,251,288,335,387],"(C70R)":[198],"were":[201,207,255,339,388],"carried":[202],"out":[203],"allele":[205],"frequencies":[206],"correlated":[208],"within":[209],"population.The":[212],"first":[213],"finding":[214,298],"was":[218,258,302,343],"trend":[220,304,407],"towards":[221,305],"significant":[222,306,406],"elevation":[223,307],"studies:":[226],"ferritin":[228],"level,":[229],"percent":[230],"saturation":[232],"decreasing":[234],"observed":[237,324],"members":[245,330],"identified":[246,389],"C282Y/H63D":[249,286,333,416],"C70R":[252,289,336,418],"heterozygotes":[253],"who":[254,338],"asymptomatic.":[256,341],"This":[257,278,342],"not":[259,344],"associated":[260,345],"age":[262,347,432],"suggests":[264,354],"there":[266,356],"threshold":[269,359],"above":[274],"which":[275],"occur.":[277],"discordance":[279],"between":[280],"symptomatic":[282],"asymptomatic":[284],"heterozygous":[290,337,415],"formed":[291],"basis":[293],"subsequent":[295],"analyses.The":[296],"second":[297],"selected":[310],"biochemical":[312,363],"markers":[313],"from":[314],"median":[316],"troponin-I":[320],"kinase":[323],"again":[340],"or":[351],"history":[352],"marker":[364],"activities":[365],"triggers":[367],"predisposing":[372,427],"factors":[373,428],"cardiomyopathy.The":[381],"showed":[391],"diagnosed":[397],"members,":[404],"both":[412],"mutations.":[413],"revealed":[419],"it":[424],"developed":[429],"at":[430],"certain":[431],"life.":[434]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-07-22T00:00:00"}