Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Smriti A. Agrawal"'
Autor:
Deepti Anand, Smriti A. Agrawal, Archana D. Siddam, Hozumi Motohashi, Masayuki Yamamoto, Salil A. Lachke
Publikováno v:
Genomics Data, Vol 5, Iss C, Pp 223-227 (2015)
Microarray-based profiling represents an effective method to analyze cellular or tissue-specific gene expression on the genome-level. However, in comparative analyses between control and mutant samples, microarrays often identify a large number of di
Externí odkaz:
https://doaj.org/article/9f262a7fcbc74fdeb01a2047e11ec986
Autor:
Fnu Kajal, Dorothy Lall, Vijay Kumar Chattu, Sanjeev Kumar Sanjeev, Amita Yadav, Smriti Jain Agrawal, Ravindra Kumar Garg
Publikováno v:
SSRN Electronic Journal.
Autor:
Tajiguli Abulikemu, Ivan A. Anastassov, Graeme Mardon, Rui Chen, Kandace Thomas, Aiden Eblimit, Yalda Moayedi, Smriti A. Agrawal
Publikováno v:
Experimental Eye Research. 166:120-130
The mammalian retina consists of multiple cell layers including photoreceptor cells, which are light sensing neurons that play essential functions in the visual process. Previously, we identified mutations in SPATA7, encoding spermatogenesis associat
Autor:
Jason M. Scovell, Friedrich-Carl von Rundstedt, Smriti A. Agrawal, Richard E. Link, Jacques Zaneveld
Publikováno v:
BJU International. 119:598-604
Objective To describe our experience using patient-specific tissue-like kidney models created with advanced three-dimensional (3D)-printing technology for preoperative planning and surgical rehearsal prior to robot-assisted laparoscopic partial nephr
Autor:
Ivan A. Anastassov, Kandace Thomas, Yalda Moayedi, Aiden Eblimit, Graeme Mardon, T. Abulikemu, Smriti A. Agrawal, Rui Chen
Publikováno v:
Experimental eye research. 171
The mammalian retina consists of multiple cell layers including photoreceptor cells, which are light sensing neurons that play essential functions in the visual process. Previously, we identified mutations in SPATA7, encoding spermatogenesis associat
Autor:
Soma Dash, Abhyudai Singh, Archana D. Siddam, Deepti Anand, Anne M. Terrell, Stephanie M. Waters, David A. Scheiblin, Atul Kakrana, Christine Dang, Salil A. Lachke, Hozumi Motohashi, Smriti A. Agrawal, Masayuki Yamamoto
Publikováno v:
Human Genetics. 134:717-735
Although majority of the genes linked to early-onset cataract exhibit lens fiber cell-enriched expression, our understanding of gene regulation in these cells is limited to function of just eight transcription factors and largely in the context of cr
Publikováno v:
Human mutation. 39(4)
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in nonocular tissues. We comprehensively describe here all
Autor:
Yumei Li, Fei Wang, Li Zhao, Stephen P. Daiger, Ming Cao, Mingchu Xu, Richard A. Gibbs, Rui Chen, Yong Chen, Yi Wang, Violet Gelowani, Smriti A. Agrawal
Publikováno v:
BMC Bioinformatics
Background Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can
Autor:
Smriti A, Agrawal, Thomas, Burgoyne, Aiden, Eblimit, James, Bellingham, David A, Parfitt, Amelia, Lane, Ralph, Nichols, Chinwe, Asomugha, Matthew J, Hayes, Peter M, Munro, Mingchu, Xu, Keqing, Wang, Clare E, Futter, Yumei, Li, Rui, Chen, Michael E, Cheetham
Publikováno v:
Human Molecular Genetics
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP. REEP6 is related
Autor:
Smriti A. Agrawal, Chris F. Inglehearn, Huajin Li, Rachel Gillespie, Nikolas Pontikos, Mingchu Xu, Michel Michaelides, Liliana F. Azevedo, Susan M. Downes, Johannes von Lintig, Gavin Arno, Georgina Hall, Darwin Babino, Carmel Toomes, Rui Chen, Hana Abouzeid, Patrick Nitschké, Yajing Xie, Jeanne Amiel, Li Zhao, Rando Allikmets, Valeria Kheir, Andrew R. Webster, Martin McKibbin, Christopher T. Gordon, Hervé Le Hir, Zachry T. Soens, Forbes Manson, Ruifang Sui, Carmen Ayuso, Laurence Hubert, Graeme C.M. Black, Virginia Busetto, Emma C. Lord, Aiden Eblimit, Christine Bole-Feysot, Daniel F. Schorderet, Gaëtan Pinton, Yumei Li, Simon C Ramsden, Lizhu Yang, Zhisheng Yuan, Nathalie Allaman-Pillet, I. Lorda-Sánchez, James A. Poulter, Vincent Plagnol, Panagiotis Sergouniotis, Zixi Sun, Hui Li, Claude Besmond, Myriam Oufadem, Michael E. Cheetham, Alessia Fiorentino, Rolph Pfundt, Rachayata Dharmat, Rosa Riveiro-Alvarez, Manir Ali, Stephanie Halford, Jing Yu, Linda Bapst-Wicht, Alison J. Hardcastle, Stanislas Lyonnet, Miguel A. Lopez-Martinez, Ihab S. Osman, Peter Stoilov, Andrea H. Németh, Anna Lehman
Publikováno v:
American Journal of Human Genetics, 100, 592-604
American Journal of Human Genetics, 100, 4, pp. 592-604
American Journal of Human Genetics, 100, 4, pp. 592-604
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70d9a145970538bb2658e73e55e27df
https://doi.org/10.1016/j.ajhg.2017.02.008
https://doi.org/10.1016/j.ajhg.2017.02.008