about
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity geneUFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndromeMutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre.Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunitAssociation study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophreniaExpression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissuesHif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist.Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).Association between OLR1 K167N SNP and intima media thickness of the common carotid artery in the general population.Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.Epidermal growth factor-like domain 7 promotes migration and invasion of human trophoblast cells through activation of MAPK, PI3K and NOTCH signaling pathwaysLOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies.Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development.Functional characterization and expression analysis of novel alternative splicing isoforms of Olr1 gene during mouse embryogenesis.MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line.The human rs1050286 polymorphism alters LOX-1 expression through modifying miR-24 binding.LOX-1 Inhibition in ApoE KO Mice Using a Schizophyllan-based Antisense Oligonucleotide Therapy.Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction.Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.Mutational analysis of mitochondrial DNA in Brugada syndrome.OLR1 and Loxin Expression in PBMCs of Women with a History of Unexplained Recurrent Miscarriage: A Pilot Study.Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Causes of the phenotype–genotype dissociation in DiGeorge syndrome: clues from mouse modelsMutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotIndividual haploinsufficient loci and the complex phenotype of DiGeorge syndromeUFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?22q11 deletions in isolated and syndromic patients with tetralogy of FallotTwo pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8pPopulation differences in allele frequencies at theOLR1locus may suggest geographic disparities in cardiovascular risk eventsA multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in micePro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypesMiR-423 is differentially expressed in patients with stable and unstable coronary artery disease: A pilot studyFrataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival
P50
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P50
description
hulumtuese
@sq
researcher
@en
հետազոտող
@hy
name
Francesca Amati
@ast
Francesca Amati
@en
Francesca Amati
@es
Francesca Amati
@nl
Francesca Amati
@sl
type
label
Francesca Amati
@ast
Francesca Amati
@en
Francesca Amati
@es
Francesca Amati
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Francesca Amati
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prefLabel
Francesca Amati
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Francesca Amati
@en
Francesca Amati
@es
Francesca Amati
@nl
Francesca Amati
@sl
P1053
J-8439-2012
P106
P1153
6603773638
P2038
Francesca_Amati2
P21
P2798
P31
P3829
P496
0000-0003-2209-2156