Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nathan C Edwards"'
Autor:
Nathan C Edwards, Zachary A Hing, Avital Perry, Adam Blaisdell, David B Kopelman, Robert Fathke, William Plum, Jordan Newell, Courtni E Allen, Geetha S, Aaron Shapiro, Chinyere Okunji, Idit Kosti, Noam Shomron, Vahan Grigoryan, Teresa M Przytycka, Zuben E Sauna, Raheleh Salari, Yael Mandel-Gutfreund, Anton A Komar, Chava Kimchi-Sarfaty
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38864 (2012)
Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the properties of the synthesized protein(s). However, mounting evidence shows that these "silent"
Externí odkaz:
https://doaj.org/article/1425d58426564ce68f4b13d5944197e4
Autor:
Benjamin Kim, Victor J. Marder, Zachary A. Hing, Zuben E. Sauna, Eric J. Broxham, Chava Kimchi-Sarfaty, David Liuwantara, Pamela Kempert, Tal Schiller, Tom E. Howard, Nathan C. Edwards, Vijaya L. Simhadri, Andrew Wu, Evi B. Struble
Publikováno v:
British Journal of Haematology. 165:154-158
Background Although autosomal recessive hematologic disorders are individually rare and difficult to ascertain, studies involving one or more homozygous affected children and their unaffected heterozygous parents have led to expanded understanding of
Autor:
Teresa M. Przytycka, Anton A. Komar, Zuben E. Sauna, Chava Kimchi-Sarfaty, Sandra C. Tseng, Vahan Grigoryan, E. Needlman, Nobuko Hamasaki-Katagiri, Raheleh Salari, Nathan C. Edwards, Vijaya L. Simhadri
Publikováno v:
Haemophilia. 18:933-940
Haemophilia B is an X-linked recessive disorder caused by deficiency of functional coagulation factor IX, which results almost exclusively from mutations in the F9 gene. We sought to determine features, which could distinguish between mutations that
Autor:
Nathan C. Edwards, Andrew Wu, Zachary A. Hing, Vijaya L. Simhadri, Eric J. Broxham, Zuben E. Sauna, David Liuwantara, Pamela Kempert, Tal Schiller, Chava Kimchi-Sarfaty, Evi B. Struble, Benjamin Kim, Victor J. Marder, Tom E. Howard
Publikováno v:
Blood. 122:2319-2319
Background Although autosomal recessive hematologic disorders are individually rare and difficult to ascertain, studies involving one or more homozygous affected children and their unaffected heterozygous parents have led to expanded understanding of
Autor:
Jordan Newell, Aaron Shapiro, Robert Fathke, Noam Shomron, Courtni E. Allen, Vahan Grigoryan, Adam Blaisdell, Zachary A. Hing, David B. Kopelman, Anton A. Komar, Zuben E. Sauna, Yael Mandel-Gutfreund, Chinyere Okunji, William Plum, Nathan C. Edwards, S Geetha, Avital Perry, Raheleh Salari, Chava Kimchi-Sarfaty, Teresa M. Przytycka, Idit Kosti
Publikováno v:
PLoS ONE
PLoS ONE, Vol 7, Iss 6, p e38864 (2012)
PLoS ONE, Vol 7, Iss 6, p e38864 (2012)
Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the properties of the synthesized protein(s). However, mounting evidence shows that these "silent"
Autor:
Chava Kimchi-Sarfaty, Nobuko H. Katagiri, Ran Zichel, Zuben E. Sauna, Vijaya L. Simhadri, Sandra C. Tseng, Anton A. Komar, Sujata Jha, David B. Kopelman, Nathan C. Edwards, Michael Z. Stern
Publikováno v:
Blood. 118:1185-1185
Abstract 1185 Introduction: Synonymous mutations, previously called ‘silent’ mutations, are now widely acknowledged to be associated with various disease states by causing changes in protein expression, conformation, and function. A number of syn