{"id":"https://openalex.org/W4223560787","doi":"https://doi.org/10.1201/9780138748435-27","title":"Molecular Genetic Diagnosis of Human Malignant Hyperthermia","display_name":"Molecular Genetic Diagnosis of Human Malignant Hyperthermia","publication_year":2022,"publication_date":"2022-04-12","ids":{"openalex":"https://openalex.org/W4223560787","doi":"https://doi.org/10.1201/9780138748435-27"},"language":"en","primary_location":{"id":"doi:10.1201/9780138748435-27","doi":"https://doi.org/10.1201/9780138748435-27","is_oa":false,"landing_page_url":"https://doi.org/10.1201/9780138748435-27","pdf_url":null,"source":{"id":"https://openalex.org/S4306463075","display_name":"CRC Press eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320584","host_organization_name":"CRC Press","host_organization_lineage":["https://openalex.org/P4310320584","https://openalex.org/P4310320547"],"host_organization_lineage_names":["CRC Press","Taylor & Francis"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Malignant Hyperthermia","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4225777136","display_name":"Malignant Hyperthermia"},"type":"book-chapter","indexed_in":["crossref"],"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/A5043921386","display_name":"Kirk J. Hogan","orcid":"https://orcid.org/0000-0001-6329-2651","observed_orcids":["https://orcid.org/0000-0001-6329-2651"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Kirk Hogan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5043921386"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.07142003,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"293","last_page":"317"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.8848000168800354,"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"}},"topics":[{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.8848000168800354,"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.05889999866485596,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.02019999921321869,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/malignant-hyperthermia","display_name":"malignant hyperthermia","score":1.0},{"id":"https://openalex.org/keywords/ryr1","display_name":"RyR1","score":0.9380000233650208},{"id":"https://openalex.org/keywords/ryanodine-receptor","display_name":"ryanodine receptor","score":0.9950000047683716},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.7170000076293945},{"id":"https://openalex.org/keywords/molecular-genetic-diagnosis","display_name":"molecular genetic diagnosis","score":0.7940000295639038}],"concepts":[{"id":"https://openalex.org/C2776333580","wikidata":"https://www.wikidata.org/wiki/Q18031340","display_name":"RYR1","level":4,"score":0.964712381362915},{"id":"https://openalex.org/C2778575482","wikidata":"https://www.wikidata.org/wiki/Q1585081","display_name":"Malignant hyperthermia","level":2,"score":0.9308228492736816},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6196926832199097},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.5797238945960999},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.554351270198822},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.550593912601471},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5475202798843384},{"id":"https://openalex.org/C2777699224","wikidata":"https://www.wikidata.org/wiki/Q638975","display_name":"Central core disease","level":5,"score":0.5026853084564209},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5012521743774414},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4880596399307251},{"id":"https://openalex.org/C113217602","wikidata":"https://www.wikidata.org/wiki/Q416781","display_name":"Ryanodine receptor","level":3,"score":0.4845646917819977},{"id":"https://openalex.org/C2777468819","wikidata":"https://www.wikidata.org/wiki/Q173670","display_name":"Arginine","level":3,"score":0.4407014846801758},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.4308733642101288},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3740193843841553},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.23745247721672058},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.12379127740859985},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.08730515837669373},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.06699180603027344}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1201/9780138748435-27","doi":"https://doi.org/10.1201/9780138748435-27","is_oa":false,"landing_page_url":"https://doi.org/10.1201/9780138748435-27","pdf_url":null,"source":{"id":"https://openalex.org/S4306463075","display_name":"CRC Press eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320584","host_organization_name":"CRC Press","host_organization_lineage":["https://openalex.org/P4310320584","https://openalex.org/P4310320547"],"host_organization_lineage_names":["CRC Press","Taylor & Francis"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Malignant Hyperthermia","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1526621118","https://openalex.org/W2005123575","https://openalex.org/W1924509038","https://openalex.org/W2069240375","https://openalex.org/W1585823339","https://openalex.org/W2150181869","https://openalex.org/W2057359669","https://openalex.org/W1985581391","https://openalex.org/W2042818460","https://openalex.org/W2046091247"],"abstract_inverted_index":{"A":[0],"point":[1],"mutation":[2,76],"in":[3,33,77,105,157],"the":[4,14,34,40,47,102,111,123,127,146],"skeletal":[5],"muscle":[6],"calcium":[7],"release":[8],"channel,":[9],"which":[10],"is":[11,44],"also":[12],"called":[13],"ryanodine":[15],"receptor":[16],"or":[17],"RYR":[18,41,103,131,147],"1,":[19],"was":[20,82,119],"first":[21],"found":[22],"to":[23,29,98,113,175],"be":[24,173],"co-inherited":[25],"with":[26,59],"a":[27,75,78,85,99,137],"predisposition":[28],"malignant":[30],"hyperthermia":[31],"(MH)":[32],"pig.":[35],"1":[36,42,104,132,148],"The":[37,72,108,134],"gene":[38,79],"encoding":[39],"protein":[43],"one":[45],"of":[46,54,88,101,110,126,145],"largest":[48],"and":[49,67,91,129,166],"most":[50],"complex":[51],"known,":[52],"consisting":[53],"over":[55,158],"250,000":[56],"nucleotide":[57,117],"bases":[58],"more":[60],"than":[61],"100":[62],"boundaries":[63],"between":[64],"coding":[65],"(exon)":[66],"noncoding":[68],"(intron)":[69],"regions.":[70],"2":[71],"search":[73],"for":[74,139],"this":[80,176],"large":[81],"warranted":[83],"by":[84,121],"substantial":[86],"body":[87],"genetic":[89],"3\u20136":[90],"biochemical":[92],"7":[93],"\u2013":[94],"11":[95],"evidence":[96],"pointing":[97],"disorder":[100],"pig":[106,170],"MH.":[107],"discovery":[109],"cytosine":[112],"thymine":[114],"substitution":[115,141],"at":[116,142],"1843":[118],"made":[120],"comparing":[122],"DNA":[124],"sequences":[125],"normal":[128],"mutant":[130],"alleles.":[133],"mutation,":[135],"producing":[136],"cysteine":[138],"arginine":[140],"position":[143],"615":[144],"amino":[149],"acid":[150],"sequence":[151],"(R615C),":[152],"subsequently":[153],"has":[154],"been":[155],"identified":[156],"450":[159],"pigs":[160],"derived":[161],"from":[162],"six":[163],"breeding":[164],"strains,":[165],"thus":[167],"far":[168],"all":[169],"MH":[171],"can":[172],"traced":[174],"alteration":[177],"(":[178],"Chapter":[179],"18":[180],").":[181]},"counts_by_year":[],"updated_date":"2026-10-10T09:11:00.788812","created_date":"2022-04-15T00:00:00"}
