about
A "silent" polymorphism in the MDR1 gene changes substrate specificityEndogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia AMultiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.A mechanistic investigation of thrombotic microangiopathy associated with IV abuse of Opana ER.Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage proteaseA gene-specific method for predicting hemophilia-causing point mutations.P-glycoprotein: from genomics to mechanism.Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approachesSensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies.SV40 Pseudovirion gene delivery of a toxin to treat human adenocarcinomas in mice.Small ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 GeneEthnicity-related polymorphisms and haplotypes in the human ABCB1 geneSV40 pseudovirions as highly efficient vectors for gene transfer and their potential application in cancer therapy.Cyclosporin A impairs the secretion and activity of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeat).MDR1 synonymous polymorphisms alter transporter specificity and protein stability in a stable epithelial monolayer.Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanomaDetection of intracellular ADAMTS13, a secreted zinc-metalloprotease, via flow cytometry.The development of gene therapy: from monogenic recessive disorders to complex diseases such as cancer.Silent (synonymous) SNPs: should we care about them?Building better drugs: developing and regulating engineered therapeutic proteins.Exposing synonymous mutations.Relative abundance of growth hormone receptor isoforms in rhesus monkey tissues and human transformed lymphocytes.Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia.Recent advances in (therapeutic protein) drug development.Cyclosporin A-dependent downregulation of the Na+/Ca2+ exchanger expression.Transcriptional and translational regulation of the splicing isoforms of the growth hormone receptor by glucocorticoids.High cloning capacity of in vitro packaged SV40 vectors with no SV40 virus sequences.NCX1 surface expression: a tool to identify structural elements of functional importance.In vitro-packaged SV40 pseudovirions as highly efficient vectors for gene transfer.Transport activity and surface expression of the Na+-Ca2+ exchanger NCX1 are inhibited by the immunosuppressive agent cyclosporin A and by the nonimmunosuppressive agent PSC833.A new and updated resource for codon usage tablesGenetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.Transduction of multiple cell types using improved conditions for gene delivery and expression of SV40 pseudovirions packaged in vitro.Functional characterization of coding polymorphisms in the human MDR1 gene using a vaccinia virus expression system.Factor IX oligomerization underlies reduced activity upon disruption of physiological conditions.Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family.Elevated preoperative von Willebrand factor is associated with perioperative thrombosis in infants and neonates with congenital heart disease.Differences in rhodamine-123 efflux in B-type chronic lymphocytic leukemia suggest possible gender and stage variations in drug-resistance gene activity.
P50
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P50
description
researcher ORCID ID = 0000-0002-9355-8585
@en
wetenschapper
@nl
name
Chava Kimchi-Sarfaty
@ast
Chava Kimchi-Sarfaty
@en
Chava Kimchi-Sarfaty
@es
Chava Kimchi-Sarfaty
@nl
type
label
Chava Kimchi-Sarfaty
@ast
Chava Kimchi-Sarfaty
@en
Chava Kimchi-Sarfaty
@es
Chava Kimchi-Sarfaty
@nl
prefLabel
Chava Kimchi-Sarfaty
@ast
Chava Kimchi-Sarfaty
@en
Chava Kimchi-Sarfaty
@es
Chava Kimchi-Sarfaty
@nl
P1153
6602381067
P31
P496
0000-0002-9355-8585