About: Anna-Elina Lehesjoki

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Finnish research director, physician, professor of medical genetics (University of Helsinki)

Attributes	Values
rdf:type	Item
description	Fins onderzoekster (nl) suomalainen lääkäri, tutkimusjohtaja, Helsingin yliopiston lääketieteellisen genetiikan professori (fi) Finnish research director, physician, professor of medical genetics (University of Helsinki) (en)
rdfs:label	Anna Lehesjoki (cs) Anna-Elina Lehesjoki (en) Anna-Elina Lehesjoki (es) Anna-Elina Lehesjoki (fi) Anna-Elina Lehesjoki (ga) Anna-Elina Lehesjoki (it) Anna-Elina Lehesjoki (nl) Anna-Elina Lehesjoki (sl) Anna-Elina Lehesjoki (sq) Anna-Elina Lehesjoki (ast)
skos:prefLabel	Anna Lehesjoki (cs) Anna-Elina Lehesjoki (en) Anna-Elina Lehesjoki (es) Anna-Elina Lehesjoki (fi) Anna-Elina Lehesjoki (ga) Anna-Elina Lehesjoki (it) Anna-Elina Lehesjoki (nl) Anna-Elina Lehesjoki (sl) Anna-Elina Lehesjoki (sq) Anna-Elina Lehesjoki (ast)
name	Anna Lehesjoki (cs) Anna-Elina Lehesjoki (en) Anna-Elina Lehesjoki (es) Anna-Elina Lehesjoki (fi) Anna-Elina Lehesjoki (ga) Anna-Elina Lehesjoki (it) Anna-Elina Lehesjoki (nl) Anna-Elina Lehesjoki (sl) Anna-Elina Lehesjoki (sq) Anna-Elina Lehesjoki (ast)
instance of	wds:Q30500570-D369F2F6-DA00-49F0-A765-2041EDC6FACF
NL CR AUT ID	wds:Q30500570-3D509832-89B5-4A8F-8FAC-D245FCC42270
instance of	Homo sapiens
NL CR AUT ID	xx0058949
Google Knowledge Graph ID	wds:Q30500570-CC9F4B6A-26B8-4ED5-8726-66E7FDCDFF6C
Google Knowledge Graph ID	http://g.co/kg/g/11h0vywp09
Google Knowledge Graph ID	/g/11h0vywp09
skos:altLabel	Lehesjoki, A-E. (en) Lehesjoki, A. (en) Lehesjoki, A.-E. (en)
occupation	wds:Q30500570-4c0d8f6b-46f6-274f-556e-06bb6274f5b9 wds:Q30500570-60800936-4cae-66d0-d72a-9f822ed424d9 wds:Q30500570-ff7e51f4-4d6a-01e1-4a80-12968cd86c5b
employer	wds:Q30500570-9d23690c-d1ce-4f2b-8fd5-ebda183eca3e
sex or gender	wds:Q30500570-719B86D7-87A3-485D-B324-80E5E5480AD5
VIAF ID	wds:Q30500570-2284219D-CDBA-4BAA-B5FD-089C0DD440DC
country of citizenship	wds:Q30500570-a5db0cc4-4530-4fbb-5000-8eb051c2dd9d
member of	wds:Q30500570-106ef8ef-4105-2f4c-06a8-ed4b3b056a5b wds:Q30500570-71D00E78-1129-4897-80F8-91E1BFDC286A
date of birth	wds:Q30500570-f83b84b2-4fea-0f7b-093e-39caea13bcf9
official website	wds:Q30500570-39f4fa14-41b1-baf8-e79e-ecede15ba37e
VIAF ID	http://viaf.org/viaf/3709148997596159870008
occupation	university teacher physician directeur de recherche
employer	University of Helsinki
sex or gender	female organism
VIAF ID	3709148997596159870008
country of citizenship	Finland
member of	Finnish Society of Sciences and Letters Finnish Academy of Science and Letters
date of birth	1960-07-19 00:00:00Z (xsd:dateTime)
official website	https://researchportal.helsinki.fi/en/persons/anna-elina-lehesjoki
Springer Nature person ID	wds:Q30500570-2EAAED24-2401-4678-A016-31BA73E61628
ORCID iD	wds:Q30500570-C2E58918-E74C-4503-901F-2BFD29483F99
Dimensions author ID	wds:Q30500570-218AE405-7EE7-4AD9-8265-F95241EE451C
ORCID iD	https://orcid.org/0000-0003-4014-3113
Springer Nature person ID	01314404546.15
ORCID iD	0000-0003-4014-3113
Dimensions author ID	01314404546.15
is owl:sameAs of	Anna-Elina Lehesjoki
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q30500570 https://fi.wikipedia.org/wiki/Anna-Elina_Lehesjoki
is author of	Mutations in prickle orthologs cause seizures in flies, mice, and humans Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice The GENCODE exome: sequencing the complete human exome The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses Molecular background of progressive myoclonus epilepsy Linkage and association analysis of CACNG3 in childhood absence epilepsy De novo mutations in HCN1 cause early infantile epileptic encephalopathy Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts PRRT2-related disorders: further PKD and ICCA cases and review of the literature Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

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