sameAs
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectEarly history of mammals is elucidated with the ENCODE multiple species sequencing dataCommon genetic variation and the control of HIV-1 in humansGenetic structure of Europeans: a view from the North-EastGenome-wide associations of gene expression variation in humansEvolutionary comparison provides evidence for pathogenicity of RMRP mutations.A high-resolution anatomical atlas of the transcriptome in the mouse embryoEGASP: the human ENCODE Genome Annotation Assessment ProjectEvidence for transcript networks composed of chimeric RNAs in human cellsIdentification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequenceA testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and YPseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolutionTandem chimerism as a means to increase protein complexity in the human genomeThe genome sequence of taurine cattle: a window to ruminant biology and evolutionGenome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorderSubmicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesThe subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalingThe Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal developmentPrimary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutationsMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinasesMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaMapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndromeDNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.Galanin pathogenic mutations in temporal lobe epilepsyHIV-1 Nef promotes infection by excluding SERINC5 from virion incorporationComparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genesGenome scan meta-analysis of schizophrenia and bipolar disorder, part II: SchizophreniaLoss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneityRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesStructured RNAs in the ENCODE selected regions of the human genomeProminent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regionsHuman microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypesGene finding in the chicken genomeInversions disrupting the factor VIII gene are a common cause of severe haemophilia AImmunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3
P50
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P50
subject
description
Greek physician
@en-ca
Greek physician
@en-gb
Kreeka arst
@et
chercheur généticien et médecin
@fr
genome researcher and medical doctor
@en
klinische genetica uit Griekenland
@nl
medic grec
@ro
metge grec
@ca
mjek grek
@sq
médico grego
@gl
name
Stylianos Antonarakis
@ast
Stylianos Antonarakis
@ca
Stylianos Antonarakis
@de
Stylianos Antonarakis
@en
Stylianos Antonarakis
@es
Stylianos Antonarakis
@fr
Stylianos Antonarakis
@ga
Stylianos Antonarakis
@it
Stylianos Antonarakis
@nl
Stylianos Antonarakis
@rm
type
label
Stylianos Antonarakis
@ast
Stylianos Antonarakis
@ca
Stylianos Antonarakis
@de
Stylianos Antonarakis
@en
Stylianos Antonarakis
@es
Stylianos Antonarakis
@fr
Stylianos Antonarakis
@ga
Stylianos Antonarakis
@it
Stylianos Antonarakis
@nl
Stylianos Antonarakis
@rm
altLabel
S.E. Antonarakis
@en
Stylianos E Antonarakis
@de
Stylianos E Antonarakis
@en
Stylianos E Antonarakis
@fr
Stylianos E Antonarakis
@nl
prefLabel
Stylianos Antonarakis
@ast
Stylianos Antonarakis
@ca
Stylianos Antonarakis
@de
Stylianos Antonarakis
@en
Stylianos Antonarakis
@es
Stylianos Antonarakis
@fr
Stylianos Antonarakis
@ga
Stylianos Antonarakis
@it
Stylianos Antonarakis
@nl
Stylianos Antonarakis
@rm