Lista de obras - Chava Kimchi-Sarfaty - Dominio Público Uruguay

A "silent" polymorphism in the MDR1 gene changes substrate specificity

scientific article (publication date: 26 January 2007)

A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity

artículo científico publicado en 2019

A gene-specific method for predicting hemophilia-causing point mutations

artículo científico publicado en 2013

A mechanistic investigation of thrombotic microangiopathy associated with IV abuse of Opana ER.

artículo científico publicado en 2016

A new and updated resource for codon usage tables

artículo científico publicado en 2017

A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues.

artículo científico publicado en 2010

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease

artículo científico publicado en 2012

Building better drugs: developing and regulating engineered therapeutic proteins.

artículo científico publicado en 2013

Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches

artículo científico publicado en 2012

Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease

artículo científico publicado en 2009

Codon and Codon-Pair Usage Tables (CoCoPUTs): Facilitating Genetic Variation Analyses and Recombinant Gene Design

artículo científico publicado en 2019

Cyclosporin A impairs the secretion and activity of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeat).

artículo científico publicado en 2012

Cyclosporin A-dependent downregulation of the Na+/Ca2+ exchanger expression.

artículo científico publicado en 2007

Detection of intracellular ADAMTS13, a secreted zinc-metalloprotease, via flow cytometry.

artículo científico publicado en 2009

Differences in rhodamine-123 efflux in B-type chronic lymphocytic leukemia suggest possible gender and stage variations in drug-resistance gene activity.

artículo científico publicado en 1998

Elevated preoperative von Willebrand factor is associated with perioperative thrombosis in infants and neonates with congenital heart disease

artículo científico publicado en 2017

Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A

artículo científico publicado en 2013

Endoreduplication and polyploidy in fragile X cells induced by methotrexate and fluorodeoxyuridine: Implications for diagnosis ⬇️

artículo científico publicado el 1 de febrero de 1991

Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene

artículo científico publicado en 2007

Exposing synonymous mutations

artículo científico publicado en 2014

Factor IX oligomerization underlies reduced activity upon disruption of physiological conditions.

artículo científico publicado en 2014

Functional characterization of coding polymorphisms in the human MDR1 gene using a vaccinia virus expression system.

artículo científico publicado en 2002

Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

artículo científico publicado en 2014

Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels

artículo científico publicado en 2017

High cloning capacity of in vitro packaged SV40 vectors with no SV40 virus sequences.

artículo científico publicado en 2003

In Silico Evaluation of Cyclophilin Inhibitors as Potential Treatment for SARS-CoV-2

artículo científico publicado en 2021

In vitro-packaged SV40 pseudovirions as highly efficient vectors for gene transfer.

artículo científico publicado en 2002

Inhibition of Multidrug Resistance by SV40 Pseudovirion Delivery of an Antigene Peptide Nucleic Acid (PNA) in Cultured Cells ⬇️

artículo científico publicado el 22 de marzo de 2011

MDR1 synonymous polymorphisms alter transporter specificity and protein stability in a stable epithelial monolayer

artículo científico publicado en 2013

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

artículo científico publicado en 2013

Multiple mechanisms contribute to the phenotypic effects of synonymous variants

artículo científico publicado en 2022

NCX1 surface expression: a tool to identify structural elements of functional importance.

artículo científico publicado en 2002

P-glycoprotein: from genomics to mechanism.

artículo científico publicado en 2003

Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females.

artículo científico publicado en 1995

Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2

scientific article published on 09 September 2020

Recent advances in (therapeutic protein) drug development.

artículo científico publicado en 2017

Relative abundance of growth hormone receptor isoforms in rhesus monkey tissues and human transformed lymphocytes.

artículo científico publicado en 2003

Ribosome profiling of HEK293T cells overexpressing codon optimized coagulation factor IX

scientific article published on 10 March 2020

SV40 Pseudovirion gene delivery of a toxin to treat human adenocarcinomas in mice.

artículo científico publicado en 2006

SV40 pseudovirions as highly efficient vectors for gene transfer and their potential application in cancer therapy.

artículo científico publicado en 2004

Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies

artículo científico publicado en 2012

Sequence analysis of SARS-CoV-2 genome reveals features important for vaccine design

artículo científico publicado en 2020

Silent (synonymous) SNPs: should we care about them?

artículo científico publicado en 2009

Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.

artículo científico publicado en 2016

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.

artículo científico publicado en 2014

Small ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 Gene

artículo científico publicado en 2015

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

artículo científico publicado en 2019

The Kazusa codon usage database, CoCoPUTs, and the value of up-to-date codon usage statistics

artículo científico publicado en 2019

The development of gene therapy: from monogenic recessive disorders to complex diseases such as cancer.

artículo científico publicado en 2009

The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia

artículo científico publicado en 2016

The sounds of silence: synonymous mutations affect function

artículo científico publicado en 2007

TissueCoCoPUTs: Novel Human Tissue-Specific Codon and Codon-Pair Usage Tables Based on Differential Tissue Gene Expression

artículo científico publicado en 2020

Transcriptional and translational regulation of the splicing isoforms of the growth hormone receptor by glucocorticoids.

artículo científico publicado en 2003

Transduction of multiple cell types using improved conditions for gene delivery and expression of SV40 pseudovirions packaged in vitro.

artículo científico publicado en 2004

Translational and transcriptional responses in human primary hepatocytes under hypoxia

scientific article published on 28 March 2019

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.

artículo científico publicado en 2001

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma

artículo científico publicado en 2013

Lista de obras de Chava Kimchi-Sarfaty

A "silent" polymorphism in the MDR1 gene changes substrate specificity

A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity

A gene-specific method for predicting hemophilia-causing point mutations

A mechanistic investigation of thrombotic microangiopathy associated with IV abuse of Opana ER.

A new and updated resource for codon usage tables

A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues.

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease

Building better drugs: developing and regulating engineered therapeutic proteins.

Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches

Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease

Codon and Codon-Pair Usage Tables (CoCoPUTs): Facilitating Genetic Variation Analyses and Recombinant Gene Design

Cyclosporin A impairs the secretion and activity of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeat).

Cyclosporin A-dependent downregulation of the Na+/Ca2+ exchanger expression.

Detection of intracellular ADAMTS13, a secreted zinc-metalloprotease, via flow cytometry.

Differences in rhodamine-123 efflux in B-type chronic lymphocytic leukemia suggest possible gender and stage variations in drug-resistance gene activity.

Elevated preoperative von Willebrand factor is associated with perioperative thrombosis in infants and neonates with congenital heart disease

Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A

Endoreduplication and polyploidy in fragile X cells induced by methotrexate and fluorodeoxyuridine: Implications for diagnosis ⬇️

Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene

Exposing synonymous mutations

Factor IX oligomerization underlies reduced activity upon disruption of physiological conditions.

Functional characterization of coding polymorphisms in the human MDR1 gene using a vaccinia virus expression system.

Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels

High cloning capacity of in vitro packaged SV40 vectors with no SV40 virus sequences.

In Silico Evaluation of Cyclophilin Inhibitors as Potential Treatment for SARS-CoV-2

In vitro-packaged SV40 pseudovirions as highly efficient vectors for gene transfer.

Inhibition of Multidrug Resistance by SV40 Pseudovirion Delivery of an Antigene Peptide Nucleic Acid (PNA) in Cultured Cells ⬇️

MDR1 synonymous polymorphisms alter transporter specificity and protein stability in a stable epithelial monolayer

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura

Multiple mechanisms contribute to the phenotypic effects of synonymous variants

NCX1 surface expression: a tool to identify structural elements of functional importance.

P-glycoprotein: from genomics to mechanism.

Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females.

Potential impact on coagulopathy of gene variants of coagulation related proteins that interact with SARS-CoV-2

Recent advances in (therapeutic protein) drug development.

Relative abundance of growth hormone receptor isoforms in rhesus monkey tissues and human transformed lymphocytes.

Ribosome profiling of HEK293T cells overexpressing codon optimized coagulation factor IX

SV40 Pseudovirion gene delivery of a toxin to treat human adenocarcinomas in mice.

SV40 pseudovirions as highly efficient vectors for gene transfer and their potential application in cancer therapy.

Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies

Sequence analysis of SARS-CoV-2 genome reveals features important for vaccine design

Silent (synonymous) SNPs: should we care about them?

Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.

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.

Small ncRNA Expression-Profiling of Blood from Hemophilia A Patients Identifies miR-1246 as a Potential Regulator of Factor 8 Gene

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

The Kazusa codon usage database, CoCoPUTs, and the value of up-to-date codon usage statistics

The development of gene therapy: from monogenic recessive disorders to complex diseases such as cancer.

The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia

The sounds of silence: synonymous mutations affect function

TissueCoCoPUTs: Novel Human Tissue-Specific Codon and Codon-Pair Usage Tables Based on Differential Tissue Gene Expression

Transcriptional and translational regulation of the splicing isoforms of the growth hormone receptor by glucocorticoids.

Transduction of multiple cell types using improved conditions for gene delivery and expression of SV40 pseudovirions packaged in vitro.

Translational and transcriptional responses in human primary hepatocytes under hypoxia

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.

Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma