Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Rana Chakrabarti"'
Autor:
Erfan Aref-Eshghi, Eric G. Bend, Rebecca L. Hood, Laila C. Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C. S. Nagamani, Sau Wai Cheung, Philippe M. Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A. Tarnopolsky, David J. Callen, A. Micheil Innes, Susan M. White, Wendy S. Meschino, Andrew Y. Shuen, Guillaume Paré, Dennis E. Bulman, Peter J. Ainsworth, Hanxin Lin, David I. Rodenhiser, Raoul C. Hennekam, Kym M. Boycott, Charles E. Schwartz, Bekim Sadikovic
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Mutations in genes encoding subunits of the BAF complex can cause Coffin–Siris and Nicolaides–Baraitser syndromes. Here the authors identify overlapping DNA methylation signatures in individuals with subtypes of these two syndromes that suggest a
Externí odkaz:
https://doaj.org/article/c8cbaa6df3ca4918a79caee26f70b7d7
Publikováno v:
Journal of Ophthalmology, Vol 2010 (2010)
Diabetic retinopathy is one of the most common causes of blindness in North America. Several signaling mechanisms are activated secondary to hyperglycemia in diabetes, leading to activation of vasoactive factors. We investigated a novel pathway, name
Externí odkaz:
https://doaj.org/article/8ea1d9fbd98a451f84275c15e6db147f
Autor:
Peter Ainsworth, Melanie Napier, Mark A. Tarnopolsky, Chitra Prasad, Alan Graham Stuart, Maryia Kozenko, Matthew A. Deardorff, Jennifer Kerkhof, Samantha Colaiacovo, Ian D. Krantz, Eric G. Bend, Natalya Karp, Chumei Li, David I. Rodenhiser, Lauren Brady, Victoria Mok Siu, Charles E. Schwartz, Michelle Caudle, Michael A. Levy, Lauren Brick, Erfan Aref-Eshghi, Rana Chakrabarti, Bekim Sadikovic, Arthur L. Beaudet, Hanxin Lin, Maha Saleh, Deanna Alexis Carere
Publikováno v:
Paediatrics Publications
Conventional genetic testing of individuals with neurodevelopmental presentations and congenital anomalies (ND/CAs), i.e., the analysis of sequence and copy number variants, leaves a substantial proportion of them unexplained. Some of these cases hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef990b6e3cf0c3836a478098dafd616
https://doi.org/10.1016/j.ajhg.2019.03.008
https://doi.org/10.1016/j.ajhg.2019.03.008
Autor:
Seyed M. Mirsattari, Sali M.K. Farhan, Michelle Everest, Maria J. Knip, C. Anthony Rupar, Michael O. Poulter, Jian Wang, Kevin C J Nixon, Victoria Mok Siu, Rana Chakrabarti, Tara N. Edwards, Dmitri Segal, Robert A. Hegele, Heleen H. Arts, Donald H. Lee, John F. Robinson, Shirley Q. Long, Jamie M. Kramer
Publikováno v:
Paediatrics Publications
Human Molecular Genetics
Human Molecular Genetics
Defects in neuronal migration cause brain malformations, which are associated with intellectual disability (ID) and epilepsy. Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b48e7a66afe70fa12348eb634bca682d
https://ir.lib.uwo.ca/paedpub/100
https://ir.lib.uwo.ca/paedpub/100
Publikováno v:
Journal of Diabetes Investigation. 2:123-131
Aims/Introduction: In diabetes, increased oxidative stress as a result of damage to the electron transport chain can lead to tissue injury through upregulation of multiple vasoactive factors and extracellular matrix proteins. Benfotiamine, a lipid so
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cf90a5be3115d5c573162b2cad428b2
https://doi.org/10.1111/j.2040-1124.2010.00077.x
https://doi.org/10.1111/j.2040-1124.2010.00077.x
Publikováno v:
American Journal of Physiology-Endocrinology and Metabolism. 298:E127-E137
Sustained hyperglycemia in diabetes causes alteration of a large number of transcription factors and mRNA transcripts, leading to tissue damage. We investigated whether p300, a transcriptional coactivator with histone acetyl transferase activity, reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94092cd8332c31c8539a817e432f5a41
https://doi.org/10.1152/ajpendo.00432.2009
https://doi.org/10.1152/ajpendo.00432.2009
Publikováno v:
Journal of Ophthalmology, Vol 2010 (2010)
Journal of Ophthalmology
Journal of Ophthalmology
Diabetic retinopathy is one of the most common causes of blindness in North America. Several signaling mechanisms are activated secondary to hyperglycemia in diabetes, leading to activation of vasoactive factors. We investigated a novel pathway, name
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e96ede3d2e48f6f2d86782415c6af0d
Publikováno v:
Investigative Opthalmology & Visual Science. 53:8333
PURPOSE. Diabetic retinopathy entails proliferation of vascular endothelial cells (ECs) and unregulated angiogenesis. We have previously shown that ECs increase the expression of an embryonic variant of fibronectin (FN), called extra domain-B FN (ED-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::892c512ad950a253094ab1cc8adaa894
https://doi.org/10.1167/iovs.12-9766
https://doi.org/10.1167/iovs.12-9766