Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Oleg A Shchelochkov"'
Autor:
Bum Jun Kim, Hitisha P Zaveri, Oleg A Shchelochkov, Zhiyin Yu, Andrés Hernández-García, Michelle L Seymour, John S Oghalai, Fred A Pereira, David W Stockton, Monica J Justice, Brendan Lee, Daryl A Scott
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e57460 (2013)
Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency, structural brain anomalies, seizures, cognitive impairment, delayed motor development, behavi
Externí odkaz:
https://doaj.org/article/700fbc6dcbf8457bb3747ef6fc450a47
Autor:
Tyler F Beck, Oleg A Shchelochkov, Zhiyin Yu, Bum Jun Kim, Andrés Hernández-García, Hitisha P Zaveri, Colin Bishop, Paul A Overbeek, David W Stockton, Monica J Justice, Daryl A Scott
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e58830 (2013)
The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic
Externí odkaz:
https://doaj.org/article/852a64d22ccb4780b78942d97ab281d2
Autor:
Oleg A. Shchelochkov, Klara Dickinson, Bruce F. Scharschmidt, Brendan Lee, Miguel Marino, Cynthia Le Mons
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 43-47 (2016)
Patients and families living with metabolic disorders face challenging dietary and drug treatment regimens. On the hypothesis that poor palatability, volume and frequency of drug/formula administration contribute to treatment non-adherence and hypera
Externí odkaz:
https://doaj.org/article/4a50c05453514d0fb363c2f7b89abbf2
Autor:
Susan Ferry, Oleg A Shchelochkov, Olivia Wenger, Paul Juneau, Samantha McCoy, Jeffrey B. Kopp, Mark D. Levin, Charles P. Venditti, Alexandra Pass, Irini Manoli, Laryssa A. Huryn, Megan Schoenfeld, Joseph Snow, Audrey Thurm, Colby Chlebowski, Wadih M. Zein, Kong Y. Chen, Jennifer L. Sloan, Jennifer Myles, Carol Van Ryzin
Publikováno v:
Genetics in Medicine
To conduct a proof-of-principle study to identify subtypes of propionic acidemia (PA) and associated biomarkers. Data from a clinically diverse PA patient population ( https://clinicaltrials.gov/ct2/show/NCT02890342 ) were used to train and test mach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6781a6b1d685a7a587b9631258fc4709
http://europepmc.org/articles/PMC8354856
http://europepmc.org/articles/PMC8354856
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab55ea4e81ede440c178fab0bb6e92c0
http://europepmc.org/articles/PMC8077311
http://europepmc.org/articles/PMC8077311
Autor:
Susan Ferry, Irini Manoli, Mark D. Levin, Jennifer L. Sloan, Douglas R. Rosing, Jeffrey B. Kopp, Carol Van Ryzin, Alexandra Pass, Jennifer Myles, Charles P. Venditti, Megan Schoenfeld, Oleg A Shchelochkov, Peter J. McGuire
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Propionic acidemia (PA) is a severe metabolic disorder characterized by multiorgan pathology, including renal disease. The prevalence of chronic kidney disease (CKD) in PA patients and factors associated with CKD in PA are not known. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf45c68c212b9b5dbb4ed9bfcf5e0eb
https://doi.org/10.1038/s41436-019-0593-z
https://doi.org/10.1038/s41436-019-0593-z
Publikováno v:
Journal of Parenteral and Enteral Nutrition. 43:434-437
BACKGROUND: Propionic acidemia (PA), an autosomal recessive metabolic disorder, has an estimated incidence of 1:105,000–130,000 in the United States(1,2). Nutritional management is a main intervention for PA. Research in inborn errors of metabolism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6f32091c348c7971a6e1c8b819d8dc
https://doi.org/10.1002/jpen.1461
https://doi.org/10.1002/jpen.1461
Autor:
Zixue Jin, Karl-Dimiter Bissig, Nathan S. Bryan, Anilkumar K. Reddy, Sandesh C.S. Nagamani, Shan Chen, Jordan Kho, Ayelet Erez, Wing Tak Wong, George G. Rodney, Ping Zhang, Hong Jiang, Shuangtao Ma, Terry Bertin, Xiao Yu Tian, Jean J. Kim, Brendan Lee, Reem Abo-Zahrah, Lindsay C. Burrage, Ming-Ming Jiang, Oleg A. Shchelochkov, Sridevi Devaraj
Publikováno v:
The American Journal of Human Genetics. 103:276-287
Primary hypertension is a major risk factor for ischemic heart disease, stroke, and chronic kidney disease. Insights obtained from the study of rare Mendelian forms of hypertension have been invaluable in elucidating the mechanisms causing primary hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f546603d1b7c36a51c36782c5296fc35
https://doi.org/10.1016/j.ajhg.2018.07.008
https://doi.org/10.1016/j.ajhg.2018.07.008
Autor:
Wadih M. Zein, Irini Manoli, Susan Ferry, Jennifer Myles, Oleg A. Shchelochkov, Laryssa A. Huryn, Sho Yano, Charles P. Venditti, Joseph Snow, Carol Van Ryzin, Jennifer L. Sloan, Audrey Thurm, Brian P. Brooks
Publikováno v:
Molecular Genetics and Metabolism. 132:S1-S2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::576dec4f1b57146edf6495414568a8d6
https://doi.org/10.1016/s1096-7192(21)00089-5
https://doi.org/10.1016/s1096-7192(21)00089-5
Autor:
Joseph Snow, Sarah L Bell, Laura A. Fletcher, Courtney J. Duckworth, Charles P. Venditti, Jack Gagné, Jacob D. Hattenbach, Brooks P. Leitner, Nicholas Ah Mew, Irini Manoli, Alexandra Pass, Carol Van Ryzin, Oleg A Shchelochkov, Kong Y. Chen, Elizabeth A Harrington, Thomas M. Cassimatis, Jennifer L. Sloan, Audrey Thurm, Susan Ferry, Samantha McCoy, Carolina I. Galarreta
Publikováno v:
Genetics in Medicine. 23:2233
To develop a safe and noninvasive in vivo assay of hepatic propionate oxidative capacity. A modified 1-13C-propionate breath test was administered to 57 methylmalonic acidemia (MMA) subjects, including 19 transplant recipients, and 16 healthy volunte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33aeba5f66c15ccbc9e514f5d274bdb4
https://doi.org/10.1038/s41436-021-01188-9
https://doi.org/10.1038/s41436-021-01188-9