Zobrazeno 1 - 10
of 210
pro vyhledávání: '"Alexander G Bassuk"'
Autor:
Gabriel Velez, Daniel A Machlab, Peter H Tang, Yang Sun, Stephen H Tsang, Alexander G Bassuk, Vinit B Mahajan
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0193250 (2018)
Differences in regional protein expression within the human retina may explain molecular predisposition of specific regions to ophthalmic diseases like age-related macular degeneration, cystoid macular edema, retinitis pigmentosa, and diabetic retino
Externí odkaz:
https://doaj.org/article/bec15a7e5eb140e9817a9610494912ba
Autor:
Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0181222 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0169687.].
Externí odkaz:
https://doaj.org/article/4ac4e78696a24121ba4475c69d44e7b8
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0183773 (2017)
In the mammalian organ of Corti (OC), the stereocilia on the apical surface of hair cells (HCs) are uniformly organized in a neural to abneural axis (or medial-laterally). This organization is regulated by planar cell polarity (PCP) signaling. Mutati
Externí odkaz:
https://doaj.org/article/2b123cc8b56141adaf182614dd02a07c
Autor:
Allison J Cox, Benjamin W Darbro, Ronald M Laxer, Gabriel Velez, Xinyu Bing, Alexis L Finer, Albert Erives, Vinit B Mahajan, Alexander G Bassuk, Polly J Ferguson
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0169687 (2017)
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic for
Externí odkaz:
https://doaj.org/article/5b7768faa8c04c93971d033b27e4d226
Autor:
Saul Rodriguez, Shaunik Sharma, Grant Tiarks, Zeru Peterson, Kyle Jackson, Daniel Thedens, Angela Wong, David Keffala-Gerhard, Vinit B. Mahajan, Polly J. Ferguson, Elizabeth A. Newell, Joseph Glykys, Thomas Nickl-Jockschat, Alexander G. Bassuk
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-18 (2024)
Abstract Traumatic Brain Injury (TBI) induces neuroinflammatory response that can initiate epileptogenesis, which develops into epilepsy. Recently, we identified anti-convulsive effects of naltrexone, a mu-opioid receptor (MOR) antagonist, used to tr
Externí odkaz:
https://doaj.org/article/2568e9f9476747faa21c1c3174a93655
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0149041 (2016)
Autism spectrum disorder (ASD) is one phenotypic aspect of many monogenic, hereditary cancer syndromes. Pleiotropic effects of cancer genes on the autism phenotype could lead to repurposing of oncology medications to treat this increasingly prevalent
Externí odkaz:
https://doaj.org/article/dc54368a0289437cbfd6de12339ad831
Autor:
Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005022 (2015)
Epilepsy is a common disabling disease with complex, multifactorial genetic and environmental etiology. The small fraction of epilepsies subject to Mendelian inheritance offers key insight into epilepsy disease mechanisms; and pathologies brought on
Externí odkaz:
https://doaj.org/article/c8c9d088c9034e5f95796391fbe65f07
Autor:
Alexander G Bassuk, Steven Yeh, Shu Wu, Daniel F Martin, Stephen H Tsang, Lokesh Gakhar, Vinit B Mahajan
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0122352 (2015)
CAPN5 mutations have been linked to autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a blinding autoimmune eye disease. Here, we link a new CAPN5 mutation to ADNIV and model the three-dimensional structure of the resulting mutan
Externí odkaz:
https://doaj.org/article/423790546f464f069fa4c4ef6d55c4cd
Autor:
Lily Paemka, Vinit B Mahajan, Jessica M Skeie, Levi P Sowers, Salleh N Ehaideb, Pedro Gonzalez-Alegre, Toshikuni Sasaoka, Hirotaka Tao, Asuka Miyagi, Naoto Ueno, Keizo Takao, Tsuyoshi Miyakawa, Shu Wu, Benjamin W Darbro, Polly J Ferguson, Andrew A Pieper, Jeremiah K Britt, John A Wemmie, Danielle S Rudd, Thomas Wassink, Hatem El-Shanti, Heather C Mefford, Gemma L Carvill, J Robert Manak, Alexander G Bassuk
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e80737 (2013)
The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found to segrega
Externí odkaz:
https://doaj.org/article/56d27ee6f5524f0d8f722b7539487b5c
Autor:
Noa Safra, Alexander G Bassuk, Polly J Ferguson, Miriam Aguilar, Rochelle L Coulson, Nicholas Thomas, Peta L Hitchens, Peter J Dickinson, Karen M Vernau, Zena T Wolf, Danika L Bannasch
Publikováno v:
PLoS Genetics, Vol 9, Iss 7, p e1003646 (2013)
Neural tube defects (NTDs) is a general term for central nervous system malformations secondary to a failure of closure or development of the neural tube. The resulting pathologies may involve the brain, spinal cord and/or vertebral column, in additi
Externí odkaz:
https://doaj.org/article/4071d081ff324b75944f2ecc78d00498