Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Nicholas S. Diab"'
Autor:
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan‐Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Backgrounds While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods We recruited 73 CHD probands from consanguineous f
Externí odkaz:
https://doaj.org/article/39b2f4ecf67e4a60a85026ddb21fc06b
Autor:
Nicholas S. Diab, Spencer King, Weilai Dong, Garrett Allington, Amar Sheth, Samuel T. Peters, Kristopher T. Kahle, Sheng Chih Jin
Publikováno v:
STAR Protocols, Vol 2, Iss 1, Pp 100383- (2021)
Summary: Here, we present a protocol to analyze de novo genetic variants derived from the whole-exome sequencing (WES) of proband-parent trios. We provide stepwise instructions for using existing pipelines to call de novo mutations (DNMs) and determi
Externí odkaz:
https://doaj.org/article/e8a4ad267bde4dc2a65e859a76f6cfe7
Autor:
Swapneeta S Date, Peng Xu, Nathaniel L Hepowit, Nicholas S Diab, Jordan Best, Boyang Xie, Jiale Du, Eric R Strieter, Lauren P Jackson, Jason A MacGurn, Todd R Graham
Publikováno v:
eLife, Vol 11 (2022)
Deciphering mechanisms controlling SNARE localization within the Golgi complex is crucial to understanding protein trafficking patterns within the secretory pathway. SNAREs are also thought to prime coatomer protein I (COPI) assembly to ensure incorp
Externí odkaz:
https://doaj.org/article/ca38160046ff46beb53e45a6f3e7c5fb
Autor:
H. Alexander Chen, Zach Hutelin, Alexander M. Moushey, Nicholas S. Diab, Sumarth K. Mehta, Britney Corey
Publikováno v:
Journal of Surgical Research. 278:350-355
Robot-assisted cholecystectomies are often criticized as expensive with uncertain benefit to patients. Characterization of robotic surgery benefits, as well as specific factors that drive cost, has the potential to shape the current debate.The surgic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35db998de556d8d45e8f82a294a3588b
https://doi.org/10.1016/j.jss.2022.04.074
https://doi.org/10.1016/j.jss.2022.04.074
Autor:
Peng Xu, Hannah M Hankins, Chris MacDonald, Samuel J Erlinger, Meredith N Frazier, Nicholas S Diab, Robert C Piper, Lauren P Jackson, Jason A MacGurn, Todd R Graham
Publikováno v:
eLife, Vol 6 (2017)
The COPI coat forms transport vesicles from the Golgi complex and plays a poorly defined role in endocytic trafficking. Here we show that COPI binds K63-linked polyubiquitin and this interaction is crucial for trafficking of a ubiquitinated yeast SNA
Externí odkaz:
https://doaj.org/article/e86d0fb2b2b3432b834acaa7444ecda2
Autor:
Jiale Du, Peng Xu, Jason A. MacGurn, Boyang Xie, Lauren P. Jackson, Todd R. Graham, Swapneeta S. Date, Nathaniel L. Hepowit, Eric R. Strieter, Nicholas S. Diab, Jordan T Best
Publikováno v:
eLife. 11
Deciphering mechanisms controlling SNARE localization within the Golgi complex is crucial to understanding protein trafficking patterns within the secretory pathway. SNAREs are also thought to prime coatomer protein I (COPI) assembly to ensure incorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::189dd0780f0911925d07b54273e9b7c6
https://doi.org/10.7554/elife.80911
https://doi.org/10.7554/elife.80911
Autor:
Swapneeta S Date, Peng Xu, Nathaniel L Hepowit, Nicholas S Diab, Jordan Best, Boyang Xie, Jiale Du, Eric R Strieter, Lauren P Jackson, Jason A MacGurn, Todd R Graham
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fd74c6cbc8c37ade6c199882a382527
https://doi.org/10.7554/elife.80911.sa2
https://doi.org/10.7554/elife.80911.sa2
Autor:
Alexander Moushey, Serban Negoita, Kedous Mekbib, Sumarth K. Mehta, Ank A. Agarwal, Jason L. Gerrard, Ishan Paranjpe, Nicholas S. Diab, Prince Antwi, Amar H. Sheth, Phan Q. Duy, Fuchen Liu, Jinny Huang, David Nam-Woo Kim, H. Alexander Chen, Sayan Manna, Yutaka Takeo, Manish D. Paranjpe, Jason K Wang, Kush Kapadia, Wyatt B. David
Publikováno v:
World Neurosurg
Background Research experience is believed to be an important component of the neurosurgery residency application process. One measure of research productivity is publication volume. The preresidency publication volume of U.S. neurosurgery interns an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd890b1c7ae4681387b7a119e23e7da6
https://doi.org/10.1016/j.wneu.2020.01.173
https://doi.org/10.1016/j.wneu.2020.01.173
Autor:
Carol Nelson-Williams, Nicholas S. Diab, Qiongshi Lu, Danielle F Miyagishima, Phan Q. Duy, Daniel H. Geschwind, Shih Shan Lang Chen, Dean Thumkeo, James R. Knight, Bo Zhang, Shozeb Haider, Adam J. Kundishora, Francesc López-Giráldez, Darren B. Orbach, Boyang Li, Samuel T. Peters, Sheng Chih Jin, Tanyeri Barak, Arnaud Marlier, Charles C. Matouk, Seth L. Alper, Richard P. Lifton, Michael J. Bamshad, Shrikant Mane, Shujuan Zhao, Jack Ocken, Weilai Dong, Hannah Smith, Ashley Dunbar, Amber N. Stratman, Daniel Duran, Kristopher T. Kahle, Shreyas Panchagnula, Christopher Castaldi, Dianna M. Milewicz, Benjamin C. Reeves, Rebecca L. Walker, Michael L. DiLuna, Phillip B. Storm, Isabelle Roszko, Nanthiya Sujijantarat, Yi Hsien Chen, Amélie Pinard, Murat Gunel, Stephanie M. Robert, Deborah A. Nickerson, Hongyu Zhao, Edward R. Smith
Publikováno v:
JAMA Neurol
Importance Moyamoya disease (MMD), a progressive vasculopathy leading to narrowing and ultimate occlusion of the intracranial internal carotid arteries, is a cause of childhood stroke. The cause of MMD is poorly understood, but genetic factors play a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d848e55a541155775c7a0e28270abe84
https://europepmc.org/articles/PMC8204259/
https://europepmc.org/articles/PMC8204259/
Autor:
Sheng Chih Jin, Xiaobing Yu, Shujuan Zhao, Kristopher T. Kahle, Weilai Dong, Syndi Barish, Martina Brueckner, Garrett Allington, Nicholas S. Diab
Publikováno v:
Genes, Vol 12, Iss 1020, p 1020 (2021)
Genes
Genes
Congenital heart disease (CHD) is the most common congenital malformation and the leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD cases, but so far, a molecular diagnosis remains unsolved in up to 55% of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5036510ebf1f656645c4835bceb65f39
https://www.mdpi.com/2073-4425/12/7/1020
https://www.mdpi.com/2073-4425/12/7/1020