Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Sampathkumar, Rangasamy"'
Autor:
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Publikováno v:
Cells, Vol 12, Iss 10, p 1437 (2023)
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutat
Externí odkaz:
https://doaj.org/article/20acec46706042719162109c33744bd6
Autor:
Rebecca F. Halperin, Apurva Hegde, Jessica D. Lang, Elizabeth A. Raupach, C4RCD Research Group, Christophe Legendre, Winnie S. Liang, Patricia M. LoRusso, Aleksandar Sekulic, Jeffrey A. Sosman, Jeffrey M. Trent, Sampathkumar Rangasamy, Patrick Pirrotte, Nicholas J. Schork
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract The robust detection of disease-associated splice events from RNAseq data is challenging due to the potential confounding effect of gene expression levels and the often limited number of patients with relevant RNAseq data. Here we present a
Externí odkaz:
https://doaj.org/article/a3220a92cf2645288aad59ed2f183636
Autor:
Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined b
Externí odkaz:
https://doaj.org/article/ea0d836e898d4bdc88b6a0d98d57ecd8
Autor:
Andrea P. Cabrera, Finny Monickaraj, Sampathkumar Rangasamy, Sam Hobbs, Paul McGuire, Arup Das
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1, p 216 (2020)
Although there is strong clinical evidence that the control of blood glucose, blood pressure, and lipid level can prevent and slow down the progression of diabetic retinopathy (DR) as shown by landmark clinical trials, it has been shown that these fa
Externí odkaz:
https://doaj.org/article/0522831010cf48a68f770037a3b1cbea
Autor:
H Rebholz, Sampathkumar Rangasamy, V Corasolla, Vinodh Narayanan, N Dacher, A Urbani, I Dominguez, J M Cruz-Gamero
Publikováno v:
Human Genetics. 140:1077-1096
The Okur-Chung neurodevelopmental syndrome, or OCNDS, is a newly discovered rare neurodevelopmental disorder. It is characterized by developmental delay, intellectual disability, behavioral problems (hyperactivity, repetitive movements and social int
Autor:
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen
Publikováno v:
F1000Research, Vol 6 (2017)
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describ
Externí odkaz:
https://doaj.org/article/3c3a49b6d93e4c97a0f99e2dd4136961
Autor:
Sampathkumar Rangasamy, Shannon Olfers, Brittany Gerald, Alex Hilbert, Sean Svejda, Vinodh Narayanan
Publikováno v:
F1000Research, Vol 5 (2016)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene, encoding methyl-CpG-binding protein 2. We have created a mouse model (Mecp2 A140V “knock-in” mutant) expressing the recurrent human MECP2 A140V mu
Externí odkaz:
https://doaj.org/article/19a95b32448446168edbbb76eb880986
Autor:
Sampathkumar Rangasamy, Paul G McGuire, Carolina Franco Nitta, Finny Monickaraj, Sreenivasa R Oruganti, Arup Das
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e108508 (2014)
Inflammation in the diabetic retina is mediated by leukocyte adhesion to the retinal vasculature and alteration of the blood-retinal barrier (BRB). We investigated the role of chemokines in the alteration of the BRB in diabetes. Animals were made dia
Externí odkaz:
https://doaj.org/article/e9d408091ae542a49862b5ab1fe649f9
Publikováno v:
In Journal of Diabetes and Its Complications 2008 22(4):261-266
Autor:
Aleksandar Sekulic, Winnie S. Liang, Apurva M. Hegde, Nicholas J. Schork, Jeffrey A. Sosman, Rebecca F. Halperin, Patrick Pirrotte, Sampathkumar Rangasamy, Jeffrey M. Trent, Christophe Legendre, Elizabeth A. Raupach, Patricia LoRusso, Jessica D. Lang
Here we present a novel statistical approach to splicing outlier and differential splicing detection, implemented in a software package called Bisbee. We leverage Bisbee’s prediction of protein level effects to benchmark using matched RNAseq and ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cd320b75e67b290260608597c928805
https://doi.org/10.1101/2020.08.13.250167
https://doi.org/10.1101/2020.08.13.250167