{"id":"https://openalex.org/W1997198528","doi":"https://doi.org/10.1002/humu.21599","title":"Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances","display_name":"Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances","publication_year":2011,"publication_date":"2011-09-01","ids":{"openalex":"https://openalex.org/W1997198528","doi":"https://doi.org/10.1002/humu.21599","mag":"1997198528","pmid":"https://pubmed.ncbi.nlm.nih.gov/21887725"},"language":"en","primary_location":{"id":"doi:10.1002/humu.21599","doi":"https://doi.org/10.1002/humu.21599","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.21599","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21599","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","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":"Human Mutation","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W1997198528"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21599","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051514823","display_name":"Birgit Stallmeyer","orcid":"https://orcid.org/0000-0002-8590-6498","observed_orcids":["https://orcid.org/0000-0002-8590-6498"]},"institutions":[{"id":"https://openalex.org/I22465464","display_name":"University of M\u00fcnster","ror":"https://ror.org/00pd74e08","country_code":"DE","type":"education","lineage":["https://openalex.org/I22465464"]},{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Birgit Stallmeyer","raw_affiliation_strings":["Institut f\u00fcr Genetik von Herzerkrankungen, Universit\u00e4tsklinikum M\u00fcnster, M\u00fcnster, Germany. birgit.stallmeyer@ukmuenster.de","Both authors contributed equally to this paper","Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","Interdisziplina\u0308res Zentrum fu\u0308r klinische Forschung (IZKF), Universita\u0308t Mu\u0308nster, Mu\u0308nster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Genetik von Herzerkrankungen, Universit\u00e4tsklinikum M\u00fcnster, M\u00fcnster, Germany. birgit.stallmeyer@ukmuenster.de","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Both authors contributed equally to this paper","institution_ids":[]},{"raw_affiliation_string":"Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Interdisziplina\u0308res Zentrum fu\u0308r klinische Forschung (IZKF), Universita\u0308t Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I22465464"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077400511","display_name":"Sven Zumhagen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sven Zumhagen","raw_affiliation_strings":["Both authors contributed equally to this paper","Department fu\u0308r Kardiologie und Angiologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Both authors contributed equally to this paper","institution_ids":[]},{"raw_affiliation_string":"Department fu\u0308r Kardiologie und Angiologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051740188","display_name":"Isabelle Denjoy","orcid":"https://orcid.org/0000-0002-1786-9461","observed_orcids":["https://orcid.org/0000-0002-1786-9461"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210119095","display_name":"H\u00f4pital Lariboisi\u00e8re","ror":"https://ror.org/02mqtne57","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210119095"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Isabelle Denjoy","raw_affiliation_strings":["AP-HP, Service de Cardiologie, Ho\u0302pital Lariboisie\u0300re, Centre de Re\u0301fe\u0301rence Maladies Cardiaques He\u0301re\u0301ditaires, Paris, France","Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Service de Cardiologie, Ho\u0302pital Lariboisie\u0300re, Centre de Re\u0301fe\u0301rence Maladies Cardiaques He\u0301re\u0301ditaires, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210119095"]},{"raw_affiliation_string":"Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108128212","display_name":"Guillaume Duthoit","orcid":"https://orcid.org/0000-0002-5730-6946","observed_orcids":["https://orcid.org/0000-0002-5730-6946"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Guillaume Duthoit","raw_affiliation_strings":["AP-HP, Institut de Cardiologie, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Institut de Cardiologie, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056753880","display_name":"Jean\u2010Louis H\u00e9bert","orcid":"https://orcid.org/0000-0001-6049-0601","observed_orcids":["https://orcid.org/0000-0001-6049-0601"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Louis H\u00e9bert","raw_affiliation_strings":["AP-HP, Laboratoire d'Explorations Fonctionnelles Cardiorespiratoires, Ho\u0302pital de Bice\u0302tre, Le Kremlin-Bice\u0302tre, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Laboratoire d'Explorations Fonctionnelles Cardiorespiratoires, Ho\u0302pital de Bice\u0302tre, Le Kremlin-Bice\u0302tre, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102780218","display_name":"Xavier Ferrer","orcid":"https://orcid.org/0000-0002-1954-4433","observed_orcids":["https://orcid.org/0000-0002-1954-4433"]},"institutions":[{"id":"https://openalex.org/I3018323443","display_name":"Centre Hospitalier Universitaire de Bordeaux","ror":"https://ror.org/01hq89f96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018323443"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Xavier Ferrer","raw_affiliation_strings":["Centre de Re\u0301fe\u0301rence des Maladies Neuromusculaires, CHU de Bordeaux, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Re\u0301fe\u0301rence des Maladies Neuromusculaires, CHU de Bordeaux, France","institution_ids":["https://openalex.org/I3018323443"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059462809","display_name":"Svetlana Maugenre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Svetlana Maugenre","raw_affiliation_strings":["Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","UPMC Univ. Paris 06, UMR_S956, IFR14, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"UPMC Univ. Paris 06, UMR_S956, IFR14, Paris, France","institution_ids":["https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043939038","display_name":"Wilhelm Ludolf Schmitz","orcid":"https://orcid.org/0000-0003-1059-9929","observed_orcids":["https://orcid.org/0000-0003-1059-9929"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Wilhelm Schmitz","raw_affiliation_strings":["Institut fu\u0308r Pharmakologie und Toxikologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut fu\u0308r Pharmakologie und Toxikologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020433840","display_name":"Uwe Kirchhefer","orcid":"https://orcid.org/0000-0002-2838-2579","observed_orcids":["https://orcid.org/0000-0002-2838-2579"]},"institutions":[{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Uwe Kirchhefer","raw_affiliation_strings":["Institut fu\u0308r Pharmakologie und Toxikologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut fu\u0308r Pharmakologie und Toxikologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069082601","display_name":"Ellen Schulze-Bahr","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I22465464","display_name":"University of M\u00fcnster","ror":"https://ror.org/00pd74e08","country_code":"DE","type":"education","lineage":["https://openalex.org/I22465464"]},{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ellen Schulze-Bahr","raw_affiliation_strings":["Department fu\u0308r Kardiologie und Angiologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","Interdisziplina\u0308res Zentrum fu\u0308r klinische Forschung (IZKF), Universita\u0308t Mu\u0308nster, Mu\u0308nster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department fu\u0308r Kardiologie und Angiologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Interdisziplina\u0308res Zentrum fu\u0308r klinische Forschung (IZKF), Universita\u0308t Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I22465464"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082003502","display_name":"Pascale Guicheney","orcid":"https://orcid.org/0000-0002-7663-2050","observed_orcids":["https://orcid.org/0000-0002-7663-2050"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pascale Guicheney","raw_affiliation_strings":["Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","UPMC Univ. Paris 06, UMR_S956, IFR14, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm, U956, Groupe Hospitalier Pitie\u0301-Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"UPMC Univ. Paris 06, UMR_S956, IFR14, Paris, France","institution_ids":["https://openalex.org/I4405264447"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066089743","display_name":"Eric Schulze\u2010Bahr","orcid":"https://orcid.org/0000-0001-6884-2501","observed_orcids":["https://orcid.org/0000-0001-6884-2501"]},"institutions":[{"id":"https://openalex.org/I22465464","display_name":"University of M\u00fcnster","ror":"https://ror.org/00pd74e08","country_code":"DE","type":"education","lineage":["https://openalex.org/I22465464"]},{"id":"https://openalex.org/I4210103666","display_name":"University Hospital M\u00fcnster","ror":"https://ror.org/01856cw59","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210103666"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Eric Schulze-Bahr","raw_affiliation_strings":["Department fu\u0308r Kardiologie und Angiologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","Interdisziplina\u0308res Zentrum fu\u0308r klinische Forschung (IZKF), Universita\u0308t Mu\u0308nster, Mu\u0308nster, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department fu\u0308r Kardiologie und Angiologie, Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Institut fu\u0308r Genetik von Herzerkrankungen (IfGH), Universita\u0308tsklinikum Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I4210103666"]},{"raw_affiliation_string":"Interdisziplina\u0308res Zentrum fu\u0308r klinische Forschung (IZKF), Universita\u0308t Mu\u0308nster, Mu\u0308nster, Germany","institution_ids":["https://openalex.org/I22465464"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5051514823"],"corresponding_institution_ids":["https://openalex.org/I22465464","https://openalex.org/I4210103666"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":7.2993,"has_fulltext":true,"cited_by_count":172,"citation_normalized_percentile":{"value":0.9763715,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"33","issue":"1","first_page":"109","last_page":"117"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9984999895095825,"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"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.00039999998989515007,"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/T11204","display_name":"Ion Channels and Receptors","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/trpm4","display_name":"TRPM4","score":0.9380000233650208},{"id":"https://openalex.org/keywords/calcium-activated-cation-channel","display_name":"calcium-activated cation channel","score":0.8870000243186951},{"id":"https://openalex.org/keywords/cardiac-conduction-disorders","display_name":"cardiac conduction disorders","score":0.8130000233650208},{"id":"https://openalex.org/keywords/atrioventricular-block","display_name":"atrioventricular block","score":0.9190000295639038},{"id":"https://openalex.org/keywords/right-bundle-branch-block","display_name":"right bundle branch block","score":0.9879999756813049},{"id":"https://openalex.org/keywords/inherited-arrhythmia-syndromes","display_name":"inherited arrhythmia","score":0.6990000009536743},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8740000128746033},{"id":"https://openalex.org/keywords/amino-acid-substitutions","display_name":"amino acid substitutions","score":0.7900000214576721},{"id":"https://openalex.org/keywords/polymorphism","display_name":"polymorphism","score":0.7580000162124634},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.8259999752044678},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7120000123977661},{"id":"https://openalex.org/keywords/long-qt-syndrome","display_name":"long QT syndrome","score":0.6439999938011169},{"id":"https://openalex.org/keywords/brugada-syndrome","display_name":"Brugada syndrome","score":0.9580000042915344},{"id":"https://openalex.org/keywords/sinus-node-dysfunction","display_name":"sick sinus syndrome","score":0.9769999980926514}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7106953859329224},{"id":"https://openalex.org/C2777382798","wikidata":"https://www.wikidata.org/wiki/Q599683","display_name":"Brugada syndrome","level":2,"score":0.709309458732605},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6962963938713074},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6886610388755798},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5939798355102539},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.5784951448440552},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5177595019340515},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5012989044189453},{"id":"https://openalex.org/C2780024892","wikidata":"https://www.wikidata.org/wiki/Q103397599","display_name":"Sick sinus syndrome","level":2,"score":0.4782535135746002},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.28928112983703613},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.17662543058395386},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002037","descriptor_name":"Bundle-Branch Block","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D002037","descriptor_name":"Bundle-Branch Block","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002037","descriptor_name":"Bundle-Branch Block","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002118","descriptor_name":"Calcium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004562","descriptor_name":"Electrocardiography","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":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006321","descriptor_name":"Heart","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050053","descriptor_name":"TRPM Cation Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054537","descriptor_name":"Atrioventricular Block","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D054537","descriptor_name":"Atrioventricular Block","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054537","descriptor_name":"Atrioventricular Block","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.21599","doi":"https://doi.org/10.1002/humu.21599","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.21599","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21599","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","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":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:21887725","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21887725","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/humu.21599","doi":"https://doi.org/10.1002/humu.21599","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.21599","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21599","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","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":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3164874958","display_name":null,"funder_award_id":"06-MRAR-022","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"},{"id":"https://openalex.org/F4320320890","display_name":"Fondation Leducq","ror":"https://ror.org/01czwga19"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1997198528.pdf","grobid_xml":"https://content.openalex.org/works/W1997198528.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W90996674","https://openalex.org/W1507105217","https://openalex.org/W1603678324","https://openalex.org/W1965436096","https://openalex.org/W1966680416","https://openalex.org/W2008751355","https://openalex.org/W2021749893","https://openalex.org/W2029087863","https://openalex.org/W2030483968","https://openalex.org/W2031943544","https://openalex.org/W2043737021","https://openalex.org/W2046438860","https://openalex.org/W2046564925","https://openalex.org/W2095955574","https://openalex.org/W2116051448","https://openalex.org/W2119306722","https://openalex.org/W2134374473","https://openalex.org/W2138817313","https://openalex.org/W2139639233","https://openalex.org/W2156981723","https://openalex.org/W2547287502","https://openalex.org/W4210365244"],"related_works":["https://openalex.org/W7147060606","https://openalex.org/W2547287502","https://openalex.org/W2076592659","https://openalex.org/W2904383997","https://openalex.org/W7165921002","https://openalex.org/W4210354542","https://openalex.org/W2002141687"],"abstract_inverted_index":{"Very":[0],"recently,":[1],"mutations":[2,38,84,99,104,148],"in":[3,10,44,135,141,155,181],"the":[4,14,27,33,178],"TRPM4":[5,30,37,83,116,146],"gene":[6,31,147],"have":[7],"been":[8],"identified":[9],"four":[11],"pedigrees":[12],"as":[13],"cause":[15],"of":[16,21,29,36,47,54,77,174],"an":[17],"autosomal":[18],"dominant":[19],"form":[20],"cardiac":[22,56,156],"conduction":[23,157],"disease.":[24],"To":[25],"determine":[26],"role":[28,154],"variations,":[32],"relative":[34],"frequency":[35],"and":[39,72,80,110,138,171],"associated":[40],"phenotypes":[41,168],"was":[42],"assessed":[43],"a":[45,152],"cohort":[46],"160":[48],"unrelated":[49],"patients":[50,88],"with":[51,62,89],"various":[52],"types":[53],"inherited":[55],"arrhythmic":[57],"syndromes.":[58],"In":[59,87,118,144],"eight":[60,120],"probands":[61],"atrioventricular":[63],"block":[64],"or":[65,95],"right":[66],"bundle":[67],"branch":[68],"block--five":[69],"familial":[70,139],"cases":[71],"three":[73],"sporadic":[74],"cases--a":[75],"total":[76],"six":[78,106],"novel":[79,103],"two":[81,124],"published":[82],"were":[85,100,127],"identified.":[86],"sinus":[90],"node":[91],"dysfunction,":[92],"Brugada":[93],"syndrome,":[94,97],"long-QT":[96],"no":[98],"found.":[101,128],"The":[102,167],"include":[105],"amino":[107],"acid":[108],"substitutions":[109],"appeared":[111],"randomly":[112],"distributed":[113],"through":[114],"predicted":[115],"protein.":[117],"addition,":[119],"polymorphic":[121],"sites":[122],"including":[123],"in-frame":[125],"deletions":[126],"Mutations":[129],"separated":[130],"from":[131],"polymorphisms":[132],"by":[133],"absence":[134],"control":[136],"individuals":[137],"cosegregation":[140],"some":[142,182],"families.":[143],"summary,":[145],"appear":[149],"to":[150],"play":[151],"major":[153],"disease":[158,179],"but":[159],"not":[160],"for":[161],"other":[162],"related":[163],"syndromes":[164],"so":[165],"far.":[166],"are":[169],"variable":[170],"clearly":[172],"suggestive":[173],"additional":[175],"factors":[176],"modulating":[177],"phenotype":[180],"patients.":[183]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":12},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":17},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":17},{"year":2017,"cited_by_count":14},{"year":2016,"cited_by_count":10},{"year":2015,"cited_by_count":20},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":18},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-15T12:55:33.944570","created_date":"2016-06-24T00:00:00"}