Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Sathiya N Manivannan"'
Autor:
Sathiya N Manivannan, Sihem Darouich, Aida Masmoudi, David Gordon, Gloria Zender, Zhe Han, Sara Fitzgerald-Butt, Peter White, Kim L McBride, Maher Kharrat, Vidu Garg
Publikováno v:
PLoS Genetics, Vol 16, Iss 5, p e1008639 (2020)
Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the ventricular muscle without dilation and is often associated with dominant pathogenic variants in cardiac sarcomeric protein genes. Here, we report a family with two infants diagn
Externí odkaz:
https://doaj.org/article/8fb4c19e9fdf4890a7e2bec4a2102654
Publikováno v:
eLife, Vol 6 (2017)
Here, we describe a novel method based on intronic MiMIC insertions described in Nagarkar-Jaiswal et al. (2015) to perform conditional gene inactivation in Drosophila. Mosaic analysis in Drosophila cannot be easily performed in post-mitotic cells. We
Externí odkaz:
https://doaj.org/article/4a16979eb9374174a13a109dd687cfc5
Publikováno v:
PLoS Genetics, Vol 11, Iss 1, p e1004893 (2015)
Ribonuclease P (RNase P) is an essential enzyme required for 5'-maturation of tRNA. While an RNA-free, protein-based form of RNase P exists in eukaryotes, the ribonucleoprotein (RNP) form is found in all domains of life. The catalytic component of th
Externí odkaz:
https://doaj.org/article/6f749278d895493495c13ff5dd0ef7a6
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31417 (2012)
In vivo analysis of Drosophila melanogaster has enhanced our understanding of many biological processes, notably the mechanisms of heredity and development. While in vivo analysis of mutants has been a strength of the field, analyzing fly cells in cu
Externí odkaz:
https://doaj.org/article/4a4fcb5149984fa2a7c4bb682f2d4a5c
Autor:
Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
Publikováno v:
Cell Reports, 38(11):110517. Cell Press
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444111bda1ed722613ad9800aa33c493
https://doi.org/10.1016/j.celrep.2022.110517
https://doi.org/10.1016/j.celrep.2022.110517
Autor:
Oguz Kanca, Hugo J. Bellen, Roelens F, Tatjana Bierhals, Hannah Stamberger, Heather C Mefford, Tasja Scholz, DeJonghe P, Sarah Weckhuysen, Katharina Hermann, Jolien Roovers, Myers Ct, Shinya Yamamoto, Smal N, Dilsad Turkdogan, Sathiya N. Manivannan, Hyunglok Chung
FZR1, which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8f543c5e91c84445ca678abfc64ed15
https://doi.org/10.1101/2021.06.12.21256778
https://doi.org/10.1101/2021.06.12.21256778
Autor:
Pei-Tseng Lee, Hyunglok Chung, J. Michael Harnish, Nicolas Chatron, Marieke F. van Dooren, Colleen M. Longley, Ning Liu, Michael F. Wangler, Sharayu Jangam, Sathiya N. Manivannan, Hsiao-Tuan Chao, Shinya Yamamoto, Hongling Pan, Xi Luo, Alfredo Brusco, Isabelle Sabatier, Martina Wilke, Oguz Kanca, Lisa Pavinato, Eleina M. England, Eva Maria Christina Schwaibold, Danqing Bei, Ronit Marom, Annalisa Vetro, Yu-Hsin Chao, Paul C. Marcogliese, Tahsin Stefan Barakat, Jill A. Rosenfeld, Gaetan Lesca, Samantha L. Deal, V Hemanjani Bhavana, Pankaj B. Agrawal, Brooke Hull, Amanda Gerard, Catherine A. Brownstein, Linda Z. Rossetti, Hillary K. Graves, Jonathan C. Andrews, Chaya N. Murali, Renzo Guerrini, Jill A. Madden, Nele A Haelterman, Roberto Keller, Marjon van Slegtenhorst
SummaryIndividuals with autism spectrum disorders (ASD) exhibit an increased burden ofde novovariants in a broadening range of genes. We functionally tested the effects of ASD missense variants usingDrosophilathrough ‘humanization’ rescue and ove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15687904b86384418e0e2659f5215cf8
https://doi.org/10.1101/2020.12.30.424813
https://doi.org/10.1101/2020.12.30.424813
Autor:
Sara Fitzgerald-Butt, Sathiya N. Manivannan, Gloria Zender, Sihem Darouich, Aida Masmoudi, Maher Kharrat, Vidu Garg, Peter White, Zhe Han, David M Gordon, Kim L. McBride
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 5, p e1008639 (2020)
PLoS Genetics, Vol 16, Iss 5, p e1008639 (2020)
Hypertrophic cardiomyopathy (HCM) is characterized by thickening of the ventricular muscle without dilation and is often associated with dominant pathogenic variants in cardiac sarcomeric protein genes. Here, we report a family with two infants diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04d5624716c544feb310742f59aeab2
Publikováno v:
Bio-protocol. 9(3)
Mosaic analysis in Drosophila, an important tool to assess cellular phenotypes of mutants in an otherwise heterozygous background, relies on mitosis. Hence, it cannot be used to inactivate gene function in mitotically inactive, terminally differentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ac40fa14d8f03d1cab5c97e62acce9
https://pubmed.ncbi.nlm.nih.gov/31179351
https://pubmed.ncbi.nlm.nih.gov/31179351
Autor:
Amanda Simcox, Sathiya N. Manivannan
Publikováno v:
Fly. 10:134-141
A long-standing problem with analyzing transgene expression in tissue-culture cells is the variation caused by random integration of different copy numbers of transfected transgenes. In mammalian cells, single transgenes can be inserted by homologous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91132e58a79359f1863de9470386fc9
https://doi.org/10.1080/19336934.2016.1191716
https://doi.org/10.1080/19336934.2016.1191716