Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Bi Hua Tan"'
Autor:
Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song, Yan Li
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Abstract Background Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired response to oxidizing
Externí odkaz:
https://doaj.org/article/f098724711524ea48fb5e32ff0a5b906
Autor:
Jingwei Wang, Qiao Bin, Biheng Cheng, Li Yan, Liang Xiong, Bi‐Hua Tan, Mary McGrath, Gayle M. Smink, Chunhua Song, Yongqing Tong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background Anhydramnios results from the poor development of the placenta or problems with intrauterine development of the kidneys or urinary tract. Complete lack of amniotic fluid indicates a severe problem with the organs of the urinary sy
Externí odkaz:
https://doaj.org/article/8944c295aacc459ea407974019fc2913
Autor:
Kimberly J. Payne, Feng Yue, Chunhua Song, Yevgeniya Bamme, Pavan Kumar Dhanyamraju, Dhimant Desai, Yiping Yang, Tommy Hu, Daniel Bogush, Yali Ding, Bi-Hua Tan, Raghavendra Gowda, Joseph Schramm, Jonathon L. Payne, Mario Soliman, Yuka Imamura, Soumya Iyer, Arati Sharma, Mark E. Reeves, Mary McGrath, Chandrika Gowda, Elanora Dovat, Vladimir S. Spiegelman, Shriya Kane, Zheng Ge, Sinisa Dovat, Suming Huang, Zissis C. Chroneos
Publikováno v:
Leukemia
Children of Hispanic/Latino ancestry have increased incidence of high-risk B-cell acute lymphoblastic leukemia (HR B-ALL) with poor prognosis. This leukemia is characterized by a single-copy deletion of the IKZF1 (IKAROS) tumor suppressor and increas
Autor:
Kimberly J. Payne, Yuka Imamura Kawasawa, Nathalia Moreno Cury, Zafer Gurel, Gavin P. Robertson, Feng Yue, Raghavendra Gowda, Dhimant Desai, José Andrés Yunes, Jonathon L. Payne, Chunhua Song, Yali Ding, Joseph Schramm, Bi-Hua Tan, Chandrika Gowda, Krishne Gowda, Zhijun Zhao, Vladimir S. Spiegelman, Xiaoguang Lyu, Meixian Xiang, Markus Müschen, Zheng Ge, Ruijun Jeanna Su, Soumya Iyer, Mary H. McGrath, Pavan Kumar Dhanyamraju, Yiping Yang, Sinisa Dovat, Shantu Amin, Mark E. Reeves, Suming Huang
Publikováno v:
Blood
High-risk B-cell acute lymphoblastic leukemia (B-ALL) is an aggressive disease, often characterized by resistance to chemotherapy. A frequent feature of high-risk B-ALL is loss of function of the IKAROS (encoded by the IKZF1 gene) tumor suppressor. H
Autor:
Rou-Mu Hu, Bi-Hua Tan, David J Tester, Chunhua Song, Yang He, Sinisa Dovat, Blaise Z Peterson, Michael J Ackerman, Jonathan C Makielski
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0124921 (2015)
SCN5A is a susceptibility gene for type 3 long QT syndrome, Brugada syndrome, and sudden infant death syndrome. INa dysfunction from mutated SCN5A can depend upon the splice variant background in which it is expressed and also upon environmental fact
Externí odkaz:
https://doaj.org/article/2902479faf554f619337b98c3378ed3e
Autor:
Rou Mu Hu, Michael J. Ackerman, Bi Hua Tan, Jonathan C. Makielski, Evelyn J. Song, Isabelle Deschenes, David J. Tester
Publikováno v:
Channels
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Background: Mutations in SCN5A that decrease Na current underlie arrhythmia syndromes such as the Brugada syndrome (BrS). SCN5A in humans has two splice variants, one lacking a glutamine at position 1077 (Q1077del) and one containing Q1077. We invest
Autor:
Hongyun Zheng, Yan Li, Chunhua Song, Jian Gu, Shriya Kane, Bei Liu, Bi Hua Tan, Yongqing Tong, Mary McGrath, Anyu Bao, Zegang Wu
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-11 (2020)
Background Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired response to oxidizing agents.
Autor:
Qiao Bin, Yongqing Tong, Bi Hua Tan, Li Yan, Liang Xiong, Jingwei Wang, Biheng Cheng, Gayle Smink, Mary McGrath, Chunhua Song
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Anhydramnios results from the poor development of the placenta or problems with intrauterine development of the kidneys or urinary tract. Complete lack of amniotic fluid indicates a severe problem with the organs of the urinary system. The
Autor:
Bi-Hua Tan, Blaise Z. Peterson, Ryan Li, Rou Mu Hu, Michael J. Ackerman, Jonathan C. Makielski, Tianyu Sun, David J. Tester
Publikováno v:
Channels
Introduction: Individual mutations in the SCN5A-encoding cardiac sodium channel α-subunit usually cause a single cardiac arrhythmia disorder, some cause mixed biophysical or clinical phenotypes. Here we report an infant, female patient harboring a N
Autor:
Michael J. Ackerman, David J. Tester, Carmen R. Valdivia, Bi-Hua Tan, Jonathan C. Makielski, Matteo Vatta, Argelia Medeiros-Domingo, Jianding Cheng, David W. Van Norstrand
Publikováno v:
Cardiogenetics, Vol 1, Iss 1, Pp e13-e13 (2011)
The SNTA1-encoded α1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5’s sodium current (INa). Subsequently, we found p.A257G in combination with the SNTA1 polymorphism, p.P74L in 4
Externí odkaz:
https://doaj.org/article/36be61019c1e42da8b8003167d38a7b0