{"id":"https://openalex.org/W69352724","doi":null,"title":"Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion","display_name":"Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W69352724","mag":"69352724"},"language":"en","primary_location":{"id":"pmh:oai:DiVA.org:uu-100598","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-100598","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/doctoralThesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-100598","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061970573","display_name":"Miriam Entesarian","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Miriam Entesarian","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5061970573"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"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/T12919","display_name":"Blood disorders and treatments","score":0.7157999873161316,"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/T12919","display_name":"Blood disorders and treatments","score":0.7157999873161316,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.08150000125169754,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.08060000091791153,"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/kostmann-syndrome","display_name":"Kostmann syndrome","score":0.9279999732971191},{"id":"https://openalex.org/keywords/severe-congenital-neutropenia","display_name":"severe congenital neutropenia","score":0.8809999823570251},{"id":"https://openalex.org/keywords/fgf10","display_name":"FGF10","score":0.9710000157356262},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.7509999871253967},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7549999952316284},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6660000085830688},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.7210000157356262},{"id":"https://openalex.org/keywords/xerostomia","display_name":"xerostomia","score":0.3370000123977661}],"concepts":[{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.5728889107704163},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5714730620384216},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4789315164089203},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4772089123725891},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3820558786392212},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.37723010778427124},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.34403765201568604},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19391989707946777},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:DiVA.org:uu-100598","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-100598","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/doctoralThesis"},{"id":"mag:69352724","doi":null,"is_oa":false,"landing_page_url":"https://uu.diva-portal.org/smash/get/diva2:210648/INSIDE01.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:DiVA.org:uu-100598","doi":null,"is_oa":true,"landing_page_url":"http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-100598","pdf_url":null,"source":{"id":"https://openalex.org/S4306402042","display_name":"Uppsala University Publications (Uppsala University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I123387679","host_organization_name":"Uppsala University","host_organization_lineage":["https://openalex.org/I123387679"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/doctoralThesis"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":122,"referenced_works":["https://openalex.org/W15453418","https://openalex.org/W76145344","https://openalex.org/W96717503","https://openalex.org/W160911776","https://openalex.org/W181826184","https://openalex.org/W1551597777","https://openalex.org/W1575984269","https://openalex.org/W1592445034","https://openalex.org/W1608563261","https://openalex.org/W1705376011","https://openalex.org/W1718065612","https://openalex.org/W1851713763","https://openalex.org/W1857573459","https://openalex.org/W1964704093","https://openalex.org/W1965967564","https://openalex.org/W1970397135","https://openalex.org/W1974590216","https://openalex.org/W1975284170","https://openalex.org/W1975306242","https://openalex.org/W1977241645","https://openalex.org/W1982990560","https://openalex.org/W1983244713","https://openalex.org/W1985152279","https://openalex.org/W1987026615","https://openalex.org/W1989041292","https://openalex.org/W1989904340","https://openalex.org/W1990367207","https://openalex.org/W1993355393","https://openalex.org/W1996501364","https://openalex.org/W1997270596","https://openalex.org/W1997328020","https://openalex.org/W1997606084","https://openalex.org/W2001233190","https://openalex.org/W2001725958","https://openalex.org/W2004271888","https://openalex.org/W2010595044","https://openalex.org/W2011994212","https://openalex.org/W2012016911","https://openalex.org/W2013376909","https://openalex.org/W2022603493","https://openalex.org/W2025049903","https://openalex.org/W2026162580","https://openalex.org/W2026659004","https://openalex.org/W2027154027","https://openalex.org/W2027907111","https://openalex.org/W2030188941","https://openalex.org/W2033041275","https://openalex.org/W2035468095","https://openalex.org/W2038074663","https://openalex.org/W2043375702","https://openalex.org/W2043840480","https://openalex.org/W2044212205","https://openalex.org/W2045035030","https://openalex.org/W2047803717","https://openalex.org/W2048360052","https://openalex.org/W2048772283","https://openalex.org/W2051770804","https://openalex.org/W2054691296","https://openalex.org/W2055101473","https://openalex.org/W2059193843","https://openalex.org/W2059403084","https://openalex.org/W2059805279","https://openalex.org/W2059864757","https://openalex.org/W2060384181","https://openalex.org/W2061391711","https://openalex.org/W2062699991","https://openalex.org/W2063318299","https://openalex.org/W2067435927","https://openalex.org/W2069370032","https://openalex.org/W2069644796","https://openalex.org/W2074320959","https://openalex.org/W2077063914","https://openalex.org/W2077560413","https://openalex.org/W2080551186","https://openalex.org/W2085755265","https://openalex.org/W2087377443","https://openalex.org/W2093982291","https://openalex.org/W2094361775","https://openalex.org/W2094698545","https://openalex.org/W2094931752","https://openalex.org/W2098246190","https://openalex.org/W2101159007","https://openalex.org/W2102058141","https://openalex.org/W2102304447","https://openalex.org/W2102543444","https://openalex.org/W2105279373","https://openalex.org/W2107243856","https://openalex.org/W2112491025","https://openalex.org/W2113649367","https://openalex.org/W2114999674","https://openalex.org/W2117282567","https://openalex.org/W2119279196","https://openalex.org/W2120321361","https://openalex.org/W2120773157","https://openalex.org/W2122377572","https://openalex.org/W2126466006","https://openalex.org/W2132125281","https://openalex.org/W2132886644","https://openalex.org/W2135224090","https://openalex.org/W2138270253","https://openalex.org/W2142592158","https://openalex.org/W2142642738","https://openalex.org/W2142701631","https://openalex.org/W2145681395","https://openalex.org/W2147791092","https://openalex.org/W2148095347","https://openalex.org/W2149104824","https://openalex.org/W2149548305","https://openalex.org/W2155011204","https://openalex.org/W2156443053","https://openalex.org/W2159686532","https://openalex.org/W2160039549","https://openalex.org/W2163723846","https://openalex.org/W2167385753","https://openalex.org/W2167435540","https://openalex.org/W2247766769","https://openalex.org/W2329376561","https://openalex.org/W2465427603","https://openalex.org/W2486820350","https://openalex.org/W2612812586","https://openalex.org/W2764167475","https://openalex.org/W7098124190"],"related_works":["https://openalex.org/W2099484724","https://openalex.org/W2094698545","https://openalex.org/W1994023846","https://openalex.org/W7096488114","https://openalex.org/W2300996288","https://openalex.org/W4386116471","https://openalex.org/W2918230393","https://openalex.org/W2006423621","https://openalex.org/W7030350713","https://openalex.org/W2797784443"],"abstract_inverted_index":{"In":[0,86,156,270],"summary,":[1],"this":[2,385],"thesis":[3,44,386],"presents":[4],"the":[5,26,52,56,91,117,127,138,154,217,261,264,301,321,344,349,380],"localisation":[6],"and":[7,18,38,65,77,84,166,210,281,284,298,326,354,375,396],"identification":[8,262],"of":[9,12,25,41,50,59,63,137,177,250,263,287,310,315,351,365,372,379,400],"genetic":[10,57,367],"variants":[11,360,368,383],"which":[13,51,251],"some":[14,19],"are":[15],"disease":[16,200,381],"associated":[17,254,342,382],"considered":[20],"to":[21,94,147,181,195,260,358,362,390],"be":[22],"neutral.":[23],"Knowledge":[24],"basic":[27],"mechanisms":[28],"behind":[29],"human":[30],"disorders":[31],"is":[32,45,70,201,323],"important":[33],"both":[34],"from":[35,216,289],"a":[36,71,95,103,144,183,204,235,273,324,331,397],"biological":[37],"medical":[39],"point":[40],"view.":[42],"The":[43,175,199,377],"based":[46],"on":[47,99,241,276],"four":[48,290],"papers":[49],"first":[53],"two":[54,111,161],"clarify":[55],"basis":[58],"autosomal":[60,187],"dominant":[61],"aplasia":[62],"lacrimal":[64],"salivary":[66],"glands":[67],"(ALSG).":[68],"ALSG":[69,92,165],"rare":[72,325],"disorder":[73],"with":[74,107,164,219,228,255,313,330,343],"high":[75],"penetrance":[76],"variable":[78],"expressivity":[79],"characterized":[80,202],"by":[81,203,223,305],"dry":[82],"mouth":[83],"eyes.":[85],"paper":[87,157,178,271],"I,":[88],"we":[89,159],"located":[90],"gene":[93,118,140,184,265,373],"22":[96],"centiMorgan":[97],"region":[98,245],"chromosome":[100,129,242,277,328],"5":[101,130],"through":[102],"genome-wide":[104],"linkage":[105],"scan":[106],"microsatellite":[108],"markers":[109],"in":[110,116,126,169,186,267,335,384],"families.":[112],"Mutations":[113],"were":[114,226,253],"found":[115,341],"encoding":[119],"fibroblast":[120],"growth":[121],"factor":[122],"10":[123,278],"(FGF10)":[124],"situated":[125],"linked":[128],"region.":[131],"Mice":[132],"having":[133],"only":[134],"one":[135],"copy":[136],"FGF10":[139],"(Fgf10+/-":[141],"mice)":[142],"have":[143],"phenotype":[145,339],"similar":[146],"ALSG,":[148],"providing":[149,171],"an":[150],"animal":[151],"model":[152],"for":[153],"disorder.":[155],"II,":[158],"describe":[160],"additional":[162],"patients":[163],"missense":[167],"mutations":[168],"FGF10,":[170],"further":[172,369],"genotype-phenotype":[173],"correlations.":[174],"aim":[176],"III":[179],"was":[180,279,303,340],"identify":[182],"involved":[185],"recessive":[188],"severe":[189],"congenital":[190],"neutropenia":[191],"(SCN),":[192],"also":[193],"referred":[194],"as":[196],"Kostmann":[197,225,268],"syndrome.":[198,269],"very":[205],"low":[206],"absolute":[207],"neutrophil":[208],"count":[209],"recurrent":[211],"bacterial":[212],"infections.":[213],"Affected":[214],"individuals":[215],"family":[218],"SCN":[220],"originally":[221],"described":[222],"Dr":[224],"genotyped":[227],"whole-genome":[229],"SNP":[230],"arrays.":[231],"Autozygosity":[232],"mapping":[233],"identified":[234],"shared":[236],"haplotype":[237,285],"spanning":[238],"1.2":[239],"Mb":[240],"1q22.":[243],"This":[244],"contained":[246],"37":[247],"known":[248],"genes,":[249],"several":[252],"myelopoiesis.":[256],"Our":[257],"finding":[258,378],"contributed":[259],"mutated":[266],"IV":[272],"cytogenetic":[274],"inversion":[275,296,322],"mapped":[280],"characterized.":[282],"Sequence-":[283],"analysis":[286],"carriers":[288],"non-related":[291],"Swedish":[292],"families":[293],"revealed":[294],"identical":[295,304],"breakpoints":[297],"established":[299,319],"that":[300,320],"rearrangement":[302],"descent.":[306],"A":[307],"retrospective":[308],"study":[309],"karyotypes":[311],"together":[312],"screening":[314],"large":[316],"sample":[317],"sets":[318],"inherited":[327],"variant":[329],"broad":[332],"geographical":[333],"distribution":[334],"Sweden.":[336],"No":[337],"consistent":[338],"inversion.":[345],"Genetic":[346],"research":[347],"increases":[348],"understanding":[350],"our":[352],"genomes":[353],"makes":[355],"it":[356],"possible":[357],"discover":[359],"contributing":[361],"disease.":[363],"Identification":[364],"such":[366],"enables":[370],"studies":[371],"function":[374],"pathogenesis.":[376],"will":[387],"eventually":[388],"contribute":[389],"improved":[391],"diagnosis,":[392],"prognosis,":[393],"risk":[394],"assessment":[395],"future":[398],"treatment":[399],"patients.":[401]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
