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1

Exposing synonymous mutations

Hunt, Ryan C., Simhadri, Vijaya L., Iandoli, Matthew, Sauna, Zuben E., Kimchi-Sarfaty, Chava

Journal:

Trends in Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2014

2

Understanding the contribution of synonymous mutations to human disease

Sauna, Zuben E., Kimchi-Sarfaty, Chava

Journal:

Nature Reviews Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 621 KB

english, 2011

3

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

N. Hamasaki-Katagiri, R. Salari, V. L. Simhadri, S. C. Tseng, E. Needlman, N. C. Edwards, Z. E. Sauna, V. Grigoryan, A. A. Komar, T. M. Przytycka, C. Kimchi-Sarfaty

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 204 KB

english, 2012

4

Synonymous Mutations and Ribosome Stalling Can Lead to Altered Folding Pathways and Distinct Minima

Chung-Jung Tsai, Zuben E. Sauna, Chava Kimchi-Sarfaty, Suresh V. Ambudkar, Michael M. Gottesman, Ruth Nussinov

Journal:

Journal of Molecular Biology

Année:

2008

Langue:

english

Fichier:

PDF, 597 KB

english, 2008

5

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

S. Geetha, Courtni E. Allen, Ryan C. Hunt, Elizabeth Plum, Susan Garfield, Scott L. Friedman, Kenji Soejima, Zuben E. Sauna, Chava Kimchi-Sarfaty

Journal:

Cytometry Part A

Année:

2009

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2009

6

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

Kames, Jacob, Alexaki, Aikaterini, Holcomb, David D., Santana-Quintero, Luis V., Athey, John C., Hamasaki-Katagiri, Nobuko, Katneni, Upendra, Golikov, Anton, Ibla, Juan C., Bar, Haim, Kimchi-Sarfaty,

Journal:

Journal of Molecular Biology

Année:

2020

Langue:

english

Fichier:

PDF, 3.19 MB

english, 2020

7

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

C. Kimchi-Sarfaty, R. Goitein, B. Kerem, M. Werner, B. Meidan, T. Schaap

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 743 KB

english, 1991

8

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

Dvorah Abeliovich, Judith Dagan, Chava Kimchi-Sarfaty, Joel Zlotogora

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 377 KB

english, 1995

9

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

H. Steiner, A. Polliack, C. Kimchi-Sarfaty, D. Libster, E. Fibach, D. Rund

Journal:

Annals of Hematology

Année:

1998

Langue:

english

Fichier:

PDF, 220 KB

english, 1998

10

Pseudovirions as Vehicles for the Delivery of siRNA

Paul E. Lund, Ryan C. Hunt, Michael M. Gottesman, Chava Kimchi-Sarfaty

Journal:

Pharmaceutical Research

Année:

2010

Langue:

english

Fichier:

PDF, 585 KB

english, 2010

11

NCX1 Surface Expression : A Tool to Identify Structural Elements of Functional Importance

HANNAH RAHAMIMOFF, XIAOYAN REN, CHAVA KIMCHI-SARFATY, SURESH AMBUDKAR, JUDITH KASIR

Journal:

Annals of the New York Academy of Sciences

Année:

2002

Fichier:

PDF, 5.29 MB

2002

12

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

Kimchi-Sarfaty, C, Vieira, W D, Dodds, D, Sherman, A, Kreitman, R J, Shinar, S, Gottesman, M M

Journal:

Cancer Gene Therapy

Année:

2006

Langue:

english

Fichier:

PDF, 238 KB

english, 2006

13

P-glycoprotein: from genomics to mechanism

Ambudkar, Suresh V, Kimchi-Sarfaty, Chava, Sauna, Zuben E, Gottesman, Michael M

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 474 KB

english, 2003

14

Cyclosporin A-Dependent Downregulation of the Na+/Ca2+ Exchanger Expression

H. RAHAMIMOFF, B. ELBAZ, A. ALPEROVICH, C. KIMCHI-SARFATY, M. M. GOTTESMAN, Y. LICHTENSTEIN, M. ESKIN-SHWARTZ, J. KASIR

Journal:

Annals of the New York Academy of Sciences

Année:

2007

Langue:

english

Fichier:

PDF, 224 KB

english, 2007

15

SNPs in ADAMTS13

Tseng, Sandra Chang, Kimchi-Sarfaty, Chava

Journal:

Pharmacogenomics

Année:

2011

Langue:

english

Fichier:

PDF, 990 KB

english, 2011

16

Plasma derivatives: New products and new approaches

Zuben E. Sauna, Gouri Shankar Pandey, Nisha Jain, Ifthekar Mahmood, Chava Kimchi-Sarfaty, Basil Golding

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 342 KB

english, 2012

17

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

Hing, Zachary A., Schiller, Tal, Wu, Andrew, Hamasaki-Katagiri, Nobuko, Struble, Evi Budo, Russek-Cohen, Estelle, Kimchi-Sarfaty, Chava

Journal:

British Journal of Haematology

Année:

2013

Langue:

english

Fichier:

PDF, 282 KB

english, 2013

18

A Gene-Specific Method for Predicting Hemophilia-Causing Point Mutations

Hamasaki-Katagiri, Nobuko, Salari, Raheleh, Wu, Andrew, Qi, Yini, Schiller, Tal, Filiberto, Amanda C., Schisterman, Enrique F., Komar, Anton A., Przytycka, Teresa M., Kimchi-Sarfaty, Chava

Journal:

Journal of Molecular Biology

Année:

2013

Langue:

english

Fichier:

PDF, 448 KB

english, 2013

19

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

Pandey, Gouri Shankar, Yanover, Chen, Miller-Jenkins, Lisa M, Garfield, Susan, Cole, Shelley A, Curran, Joanne E, Moses, Eric K, Rydz, Natalia, Simhadri, Vijaya, Kimchi-Sarfaty, Chava, Lillicrap, Davi

Journal:

Nature Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2013

20

A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity

Kimchi-Sarfaty, C., Oh, J. M., Kim, I.-W., Sauna, Z. E., Calcagno, A. M., Ambudkar, S. V., Gottesman, M. M.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 509 KB

english, 2007

21

Functional Characterization of Coding Polymorphisms in the Human MDR1 Gene Using a Vaccinia Virus Expression System

Kimchi-Sarfaty, C.

Journal:

Molecular Pharmacology

Année:

2002

Langue:

english

Fichier:

PDF, 263 KB

english, 2002

22

Building better drugs: developing and regulating engineered therapeutic proteins

Kimchi-Sarfaty, Chava, Schiller, Tal, Hamasaki-Katagiri, Nobuko, Khan, Mansoor A., Yanover, Chen, Sauna, Zuben E.

Journal:

Trends in Pharmacological Sciences

Année:

2013

Langue:

english

Fichier:

PDF, 943 KB

english, 2013

23

MDR1 Synonymous Polymorphisms Alter Transporter Specificity and Protein Stability in a Stable Epithelial Monolayer

Fung, K. L., Pan, J., Ohnuma, S., Lund, P. E., Pixley, J. N., Kimchi-Sarfaty, C., Ambudkar, S. V., Gottesman, M. M.

Journal:

Cancer Research

Année:

2014

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2014

24

In Vitro -Packaged SV40 Pseudovirions as Highly Efficient Vectors for Gene Transfer

Kimchi-Sarfaty, Chava, Ben-Nun-Shaul, Orly, Rund, Deborah, Oppenheim, Ariella, Gottesman, Michael M.

Journal:

Human Gene Therapy

Année:

2002

Langue:

english

Fichier:

PDF, 350 KB

english, 2002

25

High Cloning Capacity of In Vitro Packaged SV40 Vectors with No SV40 Virus Sequences

Kimchi-Sarfaty, Chava, Arora, Mili, Sandalon, Ziv, Oppenheim, Ariella, Gottesman, Michael M.

Journal:

Human Gene Therapy

Année:

2003

Langue:

english

Fichier:

PDF, 504 KB

english, 2003

26

Factor IX oligomerization underlies reduced activity upon disruption of physiological conditions

Simhadri, V. L., Hamasaki-Katagiri, N., Tseng, S. C., Bentley, A. A., Zichel, R., Hershko, A. Y., Komar, A. A., Kimchi-Sarfaty, C.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 288 KB

english, 2014

27

Efficient Delivery of RNA Interference Effectors via in vitro -Packaged SV40 Pseudovirions

Kimchi-Sarfaty, Chava, Brittain, Scott, Garfield, Susan, Caplen, Natasha J., Tang, Qingquan, Gottesman, Michael M.

Journal:

Human Gene Therapy

Année:

2005

Langue:

english

Fichier:

PDF, 210 KB

english, 2005

28

Efficient Transduction of Human Hematopoietic Cells with the Human Multidrug Resistance Gene 1 via SV40 Pseudovirions

Rund, Deborah, Dagan, Michal, Dalyot-Herman, Nava, Kimchi-Sarfaty, Chava, Schoenlein, Patricia V., Gottesman, Michael M., Oppenheim, Ariella

Journal:

Human Gene Therapy

Année:

1998

Langue:

english

Fichier:

PDF, 4.92 MB

english, 1998

29

Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene

Kimchi-Sarfaty, Chava, Marple, Andrew H, Shinar, Shiri, Kimchi, Avraham M, Scavo, David, Roma, M Isabella, Kim, In-Wha, Jones, Adam, Arora, Mili, Gribar, John, Gurwitz, David, Gottesman, Michael M

Journal:

Pharmacogenomics

Année:

2007

Langue:

english

Fichier:

PDF, 460 KB

english, 2007

30

Silent Polymorphisms Speak: How They Affect Pharmacogenomics and the Treatment of Cancer

Sauna, Z. E., Kimchi-Sarfaty, C., Ambudkar, S. V., Gottesman, M. M.

Journal:

Cancer Research

Année:

2007

Langue:

english

Fichier:

PDF, 352 KB

english, 2007

31

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

Salari, R., Kimchi-Sarfaty, C., Gottesman, M. M., Przytycka, T. M.

Journal:

Nucleic Acids Research

Année:

2013

Langue:

english

Fichier:

PDF, 465 KB

english, 2013

32

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

Kimchi-Sarfaty, C., Kasir, J., Ambudkar, S. V., Rahamimoff, H.

Journal:

Journal of Biological Chemistry

Année:

2002

Langue:

english

Fichier:

PDF, 592 KB

english, 2002

33

Modulation of Na+-Ca2+ Exchanger Expression by Immunosuppressive Drugs Is Isoform-Specific

Elbaz, B., Alperovitch, A., Gottesman, M. M., Kimchi-Sarfaty, C., Rahamimoff, H.

Journal:

Molecular Pharmacology

Année:

2008

Langue:

english

Fichier:

PDF, 600 KB

english, 2008

34

SV40 In Vitro Packaging: A Pseudovirion Gene Delivery System

Kimchi-Sarfaty, C., Gottesman, M. M.

Journal:

Cold Spring Harbor Protocols

Année:

2012

Langue:

english

Fichier:

PDF, 290 KB

english, 2012

35

Personalized approaches to the treatment of hemophilia A and B

Simhadri, Vijaya L, Banerjee, Aditi Sengupta, Simon, Jonathan, Kimchi-Sarfaty, Chava, Sauna, Zuben E

Journal:

Personalized Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2015

36

Relative Abundance of Growth Hormone Receptor Isoforms in Rhesus Monkey Tissues and Human Transformed Lymphocytes

Vottero, A., Kimchi-Sarfaty, C., Kratzsch, J., Miller, G., Lafferty, A., Chrousos, G. P., Hochberg, Z.

Journal:

Hormone and Metabolic Research

Année:

2003

Langue:

english

Fichier:

PDF, 285 KB

english, 2003

37

Transcriptional and Translational Regulation of the Splicing Isoforms of the Growth Hormone Receptor by Glucocorticoids

Vottero, A., Kimchi-Sarfaty, C., Kratzsch, J., Chrousos, G. P., Hochberg, Z.

Journal:

Hormone and Metabolic Research

Année:

2003

Langue:

english

Fichier:

PDF, 282 KB

english, 2003

38

The sounds of silence: synonymous mutations affect function

Sauna, Zuben E, Kimchi-Sarfaty, Chava, Ambudkar, Suresh V, Gottesman, Michael M

Journal:

Pharmacogenomics

Année:

2007

Langue:

english

Fichier:

PDF, 510 KB

english, 2007

39

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

Saini, S., Hamasaki-Katagiri, N., Pandey, G. S., Yanover, C., Guelcher, C., Simhadri, V. L., Dandekar, S., Guerrera, M. F., Kimchi-Sarfaty, C., Sauna, Z. E.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 408 KB

english, 2015

40

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

Hunt, Ryan, Yalamanoglu, Ayla, Tumlin, James, Schiller, Tal, Baek, Jin Hyen, Wu, Andrew, Fogo, Agnes B., Yang, Haichun, Wong, Edward, Miller, Peter, Buehler, Paul W., Kimchi-Sarfaty, Chava

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2017

41

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

Hamasaki-Katagiri, N., Lin, B. C., Simon, J., Hunt, R. C., Schiller, T., Russek-Cohen, E., Komar, A. A., Bar, H., Kimchi-Sarfaty, C.

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 823 KB

english, 2017

42

[Topics in Medicinal Chemistry] Protein Therapeutics Volume 21 || Immunogenicity Lessons Learned from the Clinical Development of Vatreptacog Alfa, A Recombinant Activated Factor VII Analog, in Hemophilia with Inhibitors

Sauna, Zuben E., Kimchi-Sarfaty, Chava

Année:

2017

Langue:

english

Fichier:

PDF, 900 KB

english, 2017

43

Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease

Katneni, Upendra K., Hunt, Ryan, Hettiarachchi, Gaya K., Hamasaki-Katagiri, Nobuko, Kimchi-Sarfaty, Chava, Ibla, Juan C.

Journal:

Thrombosis Research

Année:

2017

Langue:

english

Fichier:

PDF, 445 KB

english, 2017

44

A new and updated resource for codon usage tables

Athey, John, Alexaki, Aikaterini, Osipova, Ekaterina, Rostovtsev, Alexandre, Santana-Quintero, Luis V., Katneni, Upendra, Simonyan, Vahan, Kimchi-Sarfaty, Chava

Journal:

BMC Bioinformatics

Année:

2017

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2017

45

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

Macadangdang, Benjamin, Zhang, Ning, Lund, Paul E., Marple, Andrew H., Okabe, Mitsunori, Gottesman, Michael M., Appella, Daniel H., Kimchi-Sarfaty, Chava, Hoheisel, Jörg

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 226 KB

english, 2011

46

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

Sarachana, Tewarit, Dahiya, Neetu, Simhadri, Vijaya L., Pandey, Gouri Shankar, Saini, Surbhi, Guelcher, Christine, Guerrera, Michael F., Kimchi-Sarfaty, Chava, Sauna, Zuben E., Atreya, Chintamani D.,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 739 KB

english, 2015

47

Recent advances in (therapeutic protein) drug development

Lagassé, H.A. Daniel, Alexaki, Aikaterini, Simhadri, Vijaya L., Katagiri, Nobuko H., Jankowski, Wojciech, Sauna, Zuben E., Kimchi-Sarfaty, Chava

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2017

48

Von Willebrand Factor/ADAMTS-13 Interactions at Birth: Implications for Thrombosis in the Neonatal Period

Katneni, U. K., Ibla, J. C., Hunt, R., Schiller, T., Kimchi-Sarfaty, C.

Journal:

Journal of Thrombosis and Haemostasis

Année:

2018

Langue:

english

Fichier:

PDF, 342 KB

english, 2018

49

Translational and transcriptional responses in human primary hepatocytes under hypoxia

Hettiarachchi, Gaya K, Katneni, Upendra K, Hunt, Ryan C, Kames, Jacob M, Athey, John C, Bar, Haim, Sauna, Zuben E, McGill, Joseph R, Ibla, Juan C, Kimchi-Sarfaty, Chava

Journal:

American Journal of Physiology - Gastrointestinal and Liver Physiology

Année:

2019

Langue:

english

Fichier:

PDF, 3.36 MB

english, 2019

50

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

Holcomb, David D., Alexaki, Aikaterini, Katneni, Upendra, Kimchi-Sarfaty, Chava

Journal:

Infection, Genetics and Evolution

Année:

2019

Langue:

english

Fichier:

PDF, 852 KB

english, 2019