Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Megana K. Prasad"'
Autor:
Rui Lopes, Megana K. Prasad
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 11 (2024)
Over the last decade, CRISPR has revolutionized drug development due to its potential to cure genetic diseases that currently do not have any treatment. CRISPR was adapted from bacteria for gene editing in human cells in 2012 and, remarkably, only 11
Externí odkaz:
https://doaj.org/article/31d7687b67c049818f5981027fb454ca
Autor:
Megana K Prasad, Kavita Bhalla, Zhen Hua Pan, Jeffrey R O'Connell, Alan B Weder, Aravinda Chakravarti, Bin Tian, Yen-Pei C Chang
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76290 (2013)
Although variants in many genes have previously been shown to be associated with blood pressure (BP) levels, the molecular mechanism underlying these associations are mostly unknown. We identified a multi-allelic T-rich sequence (TRS) in the 3'UTR of
Externí odkaz:
https://doaj.org/article/23f488bd5fc548dc83d7870bcb9f8f26
Autor:
Marion Delbarre, Antony Le Béchec, Marie-Cécile Manière, Hélène Dollfus, Bénédicte Gérard, Agnès Bloch-Zupan, Megana K. Prasad, Corinne Stoetzel, Jean Muller, Tristan Rey, Marzena Kawczynski, Julien Tarabeux, Jamel Chelly, Virginie Laugel-Haushalter
Publikováno v:
Methods in Molecular Biology ISBN: 9781493990115
Rare genetic disorders are often challenging to diagnose. Anomalies of tooth number, shape, size, mineralized tissue structure, eruption, and resorption may exist as isolated symptoms or diseases but are often part of the clinical synopsis of numerou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1447f03c964a3eb4855e43beb29a74d8
https://doi.org/10.1007/978-1-4939-9012-2_36
https://doi.org/10.1007/978-1-4939-9012-2_36
Autor:
Michael Miller, Radhouane Aniba, Xiaochun Wang, Sridhar Hannenhalli, Alicia D. Howard, Avinash Das Sahu, Megana K. Prasad, Yen Pei C. Chang
Publikováno v:
PLoS ONE, Vol 14, Iss 4, p e0215911 (2019)
PLoS ONE
PLoS ONE
For most complex traits, the majority of SNPs identified through genome-wide association studies (GWAS) reside within noncoding regions that have no known function. However, these regions are enriched for the regulatory enhancers specific to the cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0536b0c1efca43d46b7fe760e5cb417
https://doaj.org/article/a6f87136638a4ad698bff2fbf255e80b
https://doaj.org/article/a6f87136638a4ad698bff2fbf255e80b
Autor:
Marie-Paule Gelle, Reynaldo Antequera, Hélène Dollfus, Marie-Claude Cholette, Supawich Morkmued, Marzena Switala, Geert Mortier, Louis-Frédéric Jacquelin, Isabelle Bailleul-Forestier, Frédéric Obry, Jean Louis Raymond, Mathilde Huckert, Véronique Geoffroy, Agnès Bloch-Zupan, François Clauss, Wim Van Hul, Oana Caluseriu, Corinne Stoetzel, Marie-Cécile Manière, Joseph Hemmerlé, Jean-Luc Weickert, Virginie Laugel-Haushalter, Alain Verloes, Jean-Louis Coeuriot, Eveline Boudin, Sylvie Soskin, Ross McLeod, Pascal Dollé, Yves Alembik, Megana K. Prasad, Jean Muller, Eric Mathieu, Branka Dabovic, Annelies Dheedene, Daniel B. Rifkin, Débora Romeo Bertola
Publikováno v:
Human Molecular Genetics
Human molecular genetics
HUMAN MOLECULAR GENETICS
Human molecular genetics
HUMAN MOLECULAR GENETICS
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b52f4c0ce365b7b323af2f75b9313d
http://europepmc.org/articles/PMC4424950
http://europepmc.org/articles/PMC4424950
Autor:
Henry Houlden, Thomas Jaworek, Yvonne C Anderson, Rudy J. Richardson, Sarah Hull, Louise C. Gregory, Saima Riazuddin, Thomas M. Morgan, Joshua Hersheson, Craig Jefferies, Gavin Arno, Anthony T. Moore, Abi Li, Hélène Dollfus, Corinne Stoetzel, Christi M. Willen, Juan Pedro Martinez-Barbera, Robert A. Sisk, Megana K. Prasad, Mehul T. Dattani, Gregory A. Grabowski, Cynthia A. Prows, Rashmi S. Hegde, Tamas Revesz, John K. Fink, Zubair M. Ahmed, Robert B. Hufnagel, Klaus Dieterich, Vincent Plagnol, Laura Krueger, Taosheng Huang, Nichole D. Hein
Publikováno v:
J Med Genet
Background Oliver–McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spast
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81d2653f4334466591c2904ae55c110c
https://doi.org/10.1136/jmedgenet-2014-102856
https://doi.org/10.1136/jmedgenet-2014-102856
Autor:
A. Mallet, Hélène Dollfus, Marie-Cécile Manière, E. Consolino, E. Sfeir, Agnès Bloch-Zupan, Nicole Philip, François Clauss, Karen Niederreither, Sophie Jung, Megana K. Prasad, B. Noueiri, Nicolas Chassaing, Smail Hadj-Rabia, C. Tardieu
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2017, 92 (5), pp.477-486. ⟨10.1111/cge.12972⟩
Clinical Genetics, 2017, 92 (5), pp.477-486. ⟨10.1111/cge.12972⟩
Clinical Genetics, Wiley, 2017, 92 (5), pp.477-486. ⟨10.1111/cge.12972⟩
Clinical Genetics, 2017, 92 (5), pp.477-486. ⟨10.1111/cge.12972⟩
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e53ba2bfa7093e219bf3e7a48fb7ecb9
Publikováno v:
Europe PubMed Central
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eec54a54e604dde253669bbfb42519a3
https://pubmed.ncbi.nlm.nih.gov/27558265
https://pubmed.ncbi.nlm.nih.gov/27558265
Autor:
Erica L. Kleinbrink, John Svaren, Kira N. Charney, Megana K. Prasad, Seneca L. Bessling, Andrew S. McCallion, Rajini Srinivasan, Erin A. Jones, Anthony Antonellis, Chani J. Hodonsky
Publikováno v:
Molecular and Cellular Neuroscience. 49:85-96
The transcription factor SOX10 has essential roles in neural crest-derived cell populations, including myelinating Schwann cells—specialized glial cells responsible for ensheathing axons in the peripheral nervous system. Importantly, SOX10 directly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a0cb3ccd4c4c8fbaef36336b463362
https://doi.org/10.1016/j.mcn.2011.10.004
https://doi.org/10.1016/j.mcn.2011.10.004
Autor:
Ethan S. Patterson, Joyce Axelman, Russell C. Addis, Robert L. Yochem, Xiangcan Zhan, Michael J. Shamblott, Megana K. Prasad, Timothy P. Sheets
Publikováno v:
Journal of Cellular Biochemistry. 111:391-401
OCT3/4 is a POU domain transcription factor that is critical for maintenance of pluripotency and self-renewal by embryonic stem (ES) cells and cells of the early mammalian embryo. It has been demonstrated to bind and regulate a number of genes, often
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2578bc6c86e2e1443955be68bc4611c3
https://doi.org/10.1002/jcb.22707
https://doi.org/10.1002/jcb.22707