{"id":"https://openalex.org/W808763477","doi":null,"title":"Molecular genetics of Cohen syndorome","display_name":"Molecular genetics of Cohen syndorome","publication_year":2004,"publication_date":"2004-12-01","ids":{"openalex":"https://openalex.org/W808763477","mag":"808763477"},"language":"en","primary_location":{"id":"pmh:oai:helda.helsinki.fi:10138/20393","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20393","pdf_url":"http://hdl.handle.net/10138/20393","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Doctoral dissertation"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/10138/20393","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034334528","display_name":"Juha Kolehmainen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Juha Kolehmainen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5034334528"],"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/T11642","display_name":"Genomics and Rare Diseases","score":0.5268999934196472,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.5268999934196472,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.09719999879598618,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"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/T12919","display_name":"Blood disorders and treatments","score":0.050700001418590546,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/cohen-syndrome","display_name":"Cohen syndrome","score":0.9779999852180481},{"id":"https://openalex.org/keywords/acanthocytosis","display_name":"acanthocytosis","score":0.8050000071525574},{"id":"https://openalex.org/keywords/acanthocytes","display_name":"acanthocytes","score":0.5450000166893005}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7259308099746704},{"id":"https://openalex.org/C2778691456","wikidata":"https://www.wikidata.org/wiki/Q535364","display_name":"Angelman syndrome","level":3,"score":0.532353401184082},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5236729979515076},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.5232221484184265},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.4804741442203522},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.4727768898010254},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.4434448480606079},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.4319719076156616},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.41119977831840515},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.40473422408103943},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.32493478059768677},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3198624551296234},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.11646509170532227}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:helda.helsinki.fi:10138/20393","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20393","pdf_url":"http://hdl.handle.net/10138/20393","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Doctoral dissertation"},{"id":"mag:808763477","doi":null,"is_oa":false,"landing_page_url":"http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/kolehmainen/molecula.pdf","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:helda.helsinki.fi:10138/20393","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10138/20393","pdf_url":"http://hdl.handle.net/10138/20393","source":{"id":"https://openalex.org/S4210213322","display_name":"Ty\u00f6v\u00e4entutkimus Vuosikirja","issn_l":"0784-1272","issn":["0784-1272","1459-7780"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":["ddh","jufo-1"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Doctoral dissertation"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8560000061988831,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320310086","display_name":"Helsingin Yliopisto","ror":"https://ror.org/040af2s02"},{"id":"https://openalex.org/F4320322905","display_name":"Samfundet Folkh\u00e4lsan","ror":"https://ror.org/05xznzw56"},{"id":"https://openalex.org/F4320338065","display_name":"Institute of Genetics","ror":"https://ror.org/03gwhmn95"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W808763477.pdf","grobid_xml":"https://content.openalex.org/works/W808763477.grobid-xml"},"referenced_works_count":218,"referenced_works":["https://openalex.org/W15453418","https://openalex.org/W86630917","https://openalex.org/W96717503","https://openalex.org/W130029360","https://openalex.org/W191263073","https://openalex.org/W197107282","https://openalex.org/W1480281978","https://openalex.org/W1500392412","https://openalex.org/W1503116502","https://openalex.org/W1505216941","https://openalex.org/W1518382324","https://openalex.org/W1526208666","https://openalex.org/W1527632333","https://openalex.org/W1531710418","https://openalex.org/W1542836032","https://openalex.org/W1549470101","https://openalex.org/W1552907768","https://openalex.org/W1565098568","https://openalex.org/W1565551208","https://openalex.org/W1578475287","https://openalex.org/W1595325053","https://openalex.org/W1598751932","https://openalex.org/W1605596740","https://openalex.org/W1803375514","https://openalex.org/W1925142648","https://openalex.org/W1965265115","https://openalex.org/W1966936049","https://openalex.org/W1968164578","https://openalex.org/W1969499006","https://openalex.org/W1970486714","https://openalex.org/W1970564587","https://openalex.org/W1972630358","https://openalex.org/W1973284660","https://openalex.org/W1973565320","https://openalex.org/W1974670959","https://openalex.org/W1975304761","https://openalex.org/W1981362118","https://openalex.org/W1981382847","https://openalex.org/W1982312111","https://openalex.org/W1983118258","https://openalex.org/W1983900295","https://openalex.org/W1984680322","https://openalex.org/W1987061468","https://openalex.org/W1987606713","https://openalex.org/W1987802717","https://openalex.org/W1988276998","https://openalex.org/W1988983348","https://openalex.org/W1989979293","https://openalex.org/W1990074059","https://openalex.org/W1990321256","https://openalex.org/W1991358178","https://openalex.org/W1992595091","https://openalex.org/W1992752077","https://openalex.org/W1994025789","https://openalex.org/W1994704939","https://openalex.org/W1996749102","https://openalex.org/W1999909705","https://openalex.org/W2000052961","https://openalex.org/W2000446068","https://openalex.org/W2001050259","https://openalex.org/W2003216620","https://openalex.org/W2003651730","https://openalex.org/W2005381060","https://openalex.org/W2006743091","https://openalex.org/W2008841836","https://openalex.org/W2011170819","https://openalex.org/W2012289827","https://openalex.org/W2012517229","https://openalex.org/W2013803304","https://openalex.org/W2015292449","https://openalex.org/W2016060560","https://openalex.org/W2016839209","https://openalex.org/W2018620338","https://openalex.org/W2018924297","https://openalex.org/W2019866708","https://openalex.org/W2021312899","https://openalex.org/W2021608281","https://openalex.org/W2021807514","https://openalex.org/W2022475193","https://openalex.org/W2025987095","https://openalex.org/W2026726511","https://openalex.org/W2028920986","https://openalex.org/W2029195137","https://openalex.org/W2029766197","https://openalex.org/W2030179765","https://openalex.org/W2034022735","https://openalex.org/W2035450351","https://openalex.org/W2036368079","https://openalex.org/W2037268137","https://openalex.org/W2038352589","https://openalex.org/W2038768485","https://openalex.org/W2039599894","https://openalex.org/W2039819049","https://openalex.org/W2040145443","https://openalex.org/W2040710034","https://openalex.org/W2042706248","https://openalex.org/W2043329626","https://openalex.org/W2044435287","https://openalex.org/W2045510682","https://openalex.org/W2047507542","https://openalex.org/W2047614907","https://openalex.org/W2049050229","https://openalex.org/W2049504302","https://openalex.org/W2050249780","https://openalex.org/W2051203832","https://openalex.org/W2053171446","https://openalex.org/W2055043387","https://openalex.org/W2057051315","https://openalex.org/W2057306271","https://openalex.org/W2059098302","https://openalex.org/W2059186813","https://openalex.org/W2059979204","https://openalex.org/W2063450941","https://openalex.org/W2064207737","https://openalex.org/W2067871613","https://openalex.org/W2068369329","https://openalex.org/W2070794112","https://openalex.org/W2071126398","https://openalex.org/W2071131200","https://openalex.org/W2072459032","https://openalex.org/W2072970334","https://openalex.org/W2073917725","https://openalex.org/W2074196849","https://openalex.org/W2075554603","https://openalex.org/W2075574562","https://openalex.org/W2077003408","https://openalex.org/W2078296208","https://openalex.org/W2079045007","https://openalex.org/W2080290415","https://openalex.org/W2081219091","https://openalex.org/W2082772297","https://openalex.org/W2084118479","https://openalex.org/W2084466582","https://openalex.org/W2084748297","https://openalex.org/W2088661249","https://openalex.org/W2089221493","https://openalex.org/W2089554293","https://openalex.org/W2097000049","https://openalex.org/W2098311021","https://openalex.org/W2098503979","https://openalex.org/W2099519932","https://openalex.org/W2106554167","https://openalex.org/W2106882534","https://openalex.org/W2107339893","https://openalex.org/W2108222684","https://openalex.org/W2108491719","https://openalex.org/W2108686581","https://openalex.org/W2112442017","https://openalex.org/W2114957217","https://openalex.org/W2115992869","https://openalex.org/W2116046880","https://openalex.org/W2116723833","https://openalex.org/W2118455788","https://openalex.org/W2118817344","https://openalex.org/W2121359743","https://openalex.org/W2123733913","https://openalex.org/W2123832338","https://openalex.org/W2124589223","https://openalex.org/W2127230663","https://openalex.org/W2128016314","https://openalex.org/W2130924644","https://openalex.org/W2131215620","https://openalex.org/W2134811758","https://openalex.org/W2135385301","https://openalex.org/W2136145671","https://openalex.org/W2137776860","https://openalex.org/W2138270253","https://openalex.org/W2139826378","https://openalex.org/W2140014285","https://openalex.org/W2140115103","https://openalex.org/W2141134249","https://openalex.org/W2142010710","https://openalex.org/W2142418779","https://openalex.org/W2144121175","https://openalex.org/W2144386534","https://openalex.org/W2144634347","https://openalex.org/W2149238618","https://openalex.org/W2152193561","https://openalex.org/W2153294290","https://openalex.org/W2154269509","https://openalex.org/W2156092712","https://openalex.org/W2158714788","https://openalex.org/W2158749512","https://openalex.org/W2159604840","https://openalex.org/W2159833474","https://openalex.org/W2160646542","https://openalex.org/W2162510285","https://openalex.org/W2163517519","https://openalex.org/W2164075646","https://openalex.org/W2166265186","https://openalex.org/W2166883822","https://openalex.org/W2167557855","https://openalex.org/W2167988140","https://openalex.org/W2168783124","https://openalex.org/W2168909179","https://openalex.org/W2171348543","https://openalex.org/W2171917143","https://openalex.org/W2240615446","https://openalex.org/W2280128405","https://openalex.org/W2403966057","https://openalex.org/W2411588682","https://openalex.org/W2413773886","https://openalex.org/W2421374720","https://openalex.org/W2429844530","https://openalex.org/W2433246396","https://openalex.org/W2461075584","https://openalex.org/W2463574492","https://openalex.org/W2468732126","https://openalex.org/W2782267736","https://openalex.org/W2885763500","https://openalex.org/W2915190566","https://openalex.org/W2916193864","https://openalex.org/W2985215241","https://openalex.org/W3214933951","https://openalex.org/W4230965693","https://openalex.org/W4322384960","https://openalex.org/W7096823748","https://openalex.org/W7099585975"],"related_works":["https://openalex.org/W2616852338","https://openalex.org/W4300565925","https://openalex.org/W110091753","https://openalex.org/W2413217171","https://openalex.org/W7039601927","https://openalex.org/W7030350435","https://openalex.org/W2969625115","https://openalex.org/W2611015722","https://openalex.org/W604152038","https://openalex.org/W2472917993"],"abstract_inverted_index":{"Acanthocytosis":[0],"a":[1,106,110,163,171,239,326,333,459,475,495],"disorder":[2,192,194],"characterized":[3],"by":[4,120,204,418,425],"abnormal":[5],"red":[6],"blood":[7,175,249,330],"cells":[8,250],"with":[9,178,338,467,483],"multiple":[10],"thorny":[11],"projections":[12],"or":[13,118,200,377],"spicules":[14],"Alexithymia":[15],"inability":[16,25],"to":[17,26,35,39,114,137,152,155,316,399,457],"identify":[18],"own":[19],"and":[20,23,32,44,48,70,82,139,157,274,284,311,375,416,422,470,518,530,536,551],"others":[21],"feelings":[22],"thus":[24],"communicate":[27],"about":[28],"them":[29],"Ataxia":[30],"incoordination":[31],"unsteadiness":[33],"due":[34],"the":[36,41,46,87,90,99,102,124,127,184,210,230,236,245,262,265,304,314,345,360,368,371,387,393,397,400,484,491,498,512,520,525,542,548,552],"brain's":[37],"failure":[38],"regulate":[40,45],"body's":[42],"posture":[43],"strength":[47],"direction":[49],"of":[50,80,89,101,126,146,173,186,209,215,224,229,235,244,247,259,264,282,328,335,344,347,362,370,386,406,434,442,448,500,511,515,547,555],"limb":[51],"movements":[52,65,358],"Cataract":[53],"disease":[54,382],"causing":[55,238],"opacity":[56],"in":[57,74,109,149,183,271,275,390,419,497,505],"eye":[58,91,103,357],"lens":[59],"Chorea":[60],"ceaseless":[61],"rapid":[62,353],"complex":[63],"body":[64,164],"that":[66,85,97,166,195,296,383,490,528],"look":[67],"well":[68],"coordinated":[69],"purposeful":[71],"but":[72],"are,":[73],"fact,":[75],"involuntary":[76,356],"Chorioretinal":[77],"dystrophy":[78],"degeneration":[79],"choroideal":[81],"retinal":[83],"layers":[84],"line":[86],"back":[88,100,241],"Choroidea":[92],"vascular":[93],"layer":[94],"underlying":[95],"retina":[96,391],"lines":[98],"Congenital":[104],"malformation":[105],"physical":[107],"defect":[108],"newborn":[111],"not":[112],"defined":[113],"be":[115,202],"either":[116],"genetic":[117,373],"nongenetic":[119],"origin":[121],"Corpus":[122],"callosum":[123],"area":[125,394],"brain":[128,133],"which":[129,365],"connects":[130],"two":[131],"large":[132],"halves":[134],"Craniofacial":[135],"related":[136],"skull":[138],"face":[140],"Cyclic":[141],"neutropenia":[142,219],"cyclic":[143],"low":[144,222],"number":[145,185,223,246,346,405],"neutrophils":[147,225,348],"varying":[148],"severity":[150],"week":[151],"week,":[153],"month":[154],"month,":[156],"possibly":[158],"follows":[159],"biorhythms":[160],"Dysmorphic":[161],"feature":[162],"characteristic":[165],"is":[167,297,432,455,541],"abnormally":[168],"formed":[169],"Granulocyte":[170],"type":[172],"white":[174,248,329],"cell":[176,331],"filled":[177,337],"microscopic":[179],"granules":[180,341,389],"Granulocytopenia":[181],"decrease":[182,243,343],"granulocytes":[187],"below":[188,251,303,349,396],"normal":[189,252,257,305,350],"values":[190,253,258,351],"Heterogeneous":[191],"inherited":[193],"has":[196,494],"variable":[197],"inheritance":[198],"pattern":[199],"can":[201],"caused":[203],"several":[205],"genes":[206],"Hypogenitalism":[207],"underdevelopment":[208],"gonads":[211],"Hypotonia":[212],"decreased":[213],"tone":[214],"skeletal":[216],"muscles":[217],"Intermittent":[218],"occasionally":[220],"occurring":[221],"Joint":[226],"laxity":[227],"hyperextensibility":[228],"joint":[231],"Kyphosis":[232],"outward":[233],"curvature":[234],"spine,":[237],"humped":[240],"Leukopenia":[242],"Lymphocytosis":[254],"increase":[255],"above":[256],"lymphocytes":[260],"Mandible":[261],"bone":[263],"lower":[266],"jaw":[267],"Mental":[268,287],"retardation":[269,292],"limitations":[270],"mental":[272,291],"functioning":[273],"skills":[276,286],"such":[277],"as":[278],"communicating,":[279],"taking":[280],"care":[281],"oneself,":[283],"social":[285],"deficiency":[288],"synonym":[289],"for":[290,307,544],"Microcephaly":[293],"head":[294],"circumference":[295],"more":[298,320],"than":[299,322],"2":[300],"standard":[301],"deviations":[302],"mean":[306],"age,":[308],"sex,":[309],"race,":[310],"gestationMyopia":[312],"nearsightedness,":[313],"ability":[315],"see":[317],"close":[318],"objects":[319,324],"clearly":[321],"distant":[323],"Neutrophil":[325],"subtype":[327],"(specifically":[332],"form":[334],"granulocyte)":[336],"neutrally":[339],"staining":[340],"Neutropenia":[342],"Nystagmus":[352],"rhythmic":[354],"repetitious":[355],"Phenotype":[359],"appearance":[361],"an":[363],"individual,":[364],"results":[366,503,526],"from":[367,395],"interaction":[369],"person's":[372],"makeup":[374],"his":[376],"her":[378],"environment":[379],"Pigmentary":[380],"retinopathy":[381],"causes":[384],"accumulation":[385],"pigment":[388],"Philtrum":[392],"nose":[398],"upper":[401],"lip":[402],"Polydactyli":[403],"increased":[404],"digits":[407],"The":[408],"full-length":[409],"14,093":[410,452],"bp":[411,453],"COH1":[412,430,449,492,549],"transcript":[413,454],"was":[414,423],"identified":[415],"assembled":[417],"silico-based":[420],"methods,":[421],"verified":[424],"reverse":[426],"transcriptase":[427],"PCR":[428],"(RT-PCR).The":[429],"gene":[431],"composed":[433],"at":[435],"least":[436],"62":[437],"exons":[438],"over":[439],"~864":[440],"kb":[441],"genomic":[443],"DNA.Several":[444],"alternatively":[445],"spliced":[446],"forms":[447],"were":[450],"observed.The":[451],"predicted":[456,468],"encode":[458],"4,022":[460],"amino":[461,480],"acid":[462,481],"protein":[463,493,501,550],"based":[464],"on":[465],"modelling":[466],"transmembrane":[469],"other":[471],"domains.Protein":[472],"alignment":[473],"against":[474],"domain":[476],"family":[477],"database":[478],"indicated":[479],"similarity":[482],"S.":[485],"cerevisiae":[486],"Vps13":[487],"protein.This":[488],"predicts":[489],"function":[496],"control":[499],"sorting.The":[502],"presented":[504],"this":[506],"thesis":[507],"allow":[508],"molecular":[509,553],"confirmation":[510],"clinical":[513],"diagnosis":[514],"Cohen":[516,529,556],"syndrome":[517],"confirm":[519],"previously":[521],"established":[522],"diagnostic":[523],"criteria.Moreover,":[524],"show":[527],"\"":[531],"Cohen-like\"":[532],"syndromes":[533],"are":[534],"clinically":[535],"genetically":[537],"distinct":[538],"disorders.This":[539],"work":[540],"basis":[543],"further":[545],"characterization":[546],"pathogenesis":[554],"syndrome.":[557]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}