Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Bryn S Moore"'
Autor:
Matthew T Oetjens, Jonathan Z Luo, Alexander Chang, Joseph B Leader, Dustin N Hartzel, Bryn S Moore, Natasha T Strande, H Lester Kirchner, David H Ledbetter, Anne E Justice, David J Carey, Tooraj Mirshahi
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0242182 (2020)
BackgroundEmpirical data on conditions that increase risk of coronavirus disease 2019 (COVID-19) progression are needed to identify high risk individuals. We performed a comprehensive quantitative assessment of pre-existing clinical phenotypes associ
Externí odkaz:
https://doaj.org/article/d7be12c3bdfc4e388db8c5c87684a9ab
Autor:
Bryn S Moore, Uyenlinh L Mirshahi, Evan A Yost, Ann N Stepanchick, Michael D Bedrin, Amanda M Styer, Kathryn K Jackson, Christopher D Still, Gerda E Breitwieser, Glenn S Gerhard, David J Carey, Tooraj Mirshahi
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e93629 (2014)
The melanocortin 4 receptor (MC4R) critically regulates feeding and satiety. Rare variants in MC4R are predominantly found in obese individuals. Though some rare variants in MC4R discovered in patients have defects in localization, ligand binding and
Externí odkaz:
https://doaj.org/article/ba09539673d243149dc56a008e394908
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Genetic variation in MC1R is a main determinant of red hair color (RHC) phenotype which confers susceptibility to skin disorders. Methods: We assessed the effects and function of MC1R variants identified in our clinical cohort of 135,947 par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458135d00e93c689ff940a580a4128de
http://europepmc.org/articles/PMC8633122
http://europepmc.org/articles/PMC8633122
Autor:
Alexander R, Chang, Bryn S, Moore, Jonathan Z, Luo, Gino, Sartori, Brian, Fang, Steven, Jacobs, Yoosif, Abdalla, Mohammed, Taher, David J, Carey, William J, Triffo, Gurmukteshwar, Singh, Tooraj, Mirshahi
Publikováno v:
JAMA
ImportanceMost studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These can lead to biased estimates of population prevalence of ADPKD-associated gene variants and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad9344b7cec351c92396d985d66c5a8
https://doi.org/10.1001/jama.2022.22847
https://doi.org/10.1001/jama.2022.22847
Autor:
William J Triffo, Bryn S. Moore, Ashima Gulati, Vicente E. Torres, Stefan Somlo, Shrikant Mane, Alex R. Chang, Whitney Besse, Tooraj Mirshahi, Jonathan Z. Luo, Dustin N. Hartzel
Publikováno v:
Journal of the American Society of Nephrology. 30:2091-2102
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f48670c5f8c8a90499ce21a5ad287360
https://doi.org/10.1681/asn.2019030298
https://doi.org/10.1681/asn.2019030298
Autor:
Paul Tewson, Anne Marie Quinn, Cassandra M. Hartle, Bryn S. Moore, Jin Zhang, Tooraj Mirshahi, Ann Stepanchick, Thomas E. Hughes
Publikováno v:
Proceedings of the National Academy of Sciences. 113:13069-13074
Protein kinase A (PKA) phosphorylates Gli proteins, acting as a negative regulator of the Hedgehog pathway. PKA was recently detected within the cilium, and PKA activity specifically in cilia regulates Gli processing. Using a cilia-targeted genetical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e04321c585c44920fdbeaad139ba94
https://doi.org/10.1073/pnas.1602393113
https://doi.org/10.1073/pnas.1602393113
Autor:
Alex C.Y. Chang, David H. Ledbetter, Dustin N. Hartzel, David J. Carey, Tooraj Mirshahi, H. Lester Kirchner, Anne E. Justice, Matthew T. Oetjens, Jonathan Z. Luo, Natasha T. Strande, Bryn S. Moore, Joseph B. Leader
Publikováno v:
PLoS ONE
PLoS ONE, Vol 15, Iss 11, p e0242182 (2020)
PLoS ONE, Vol 15, Iss 11, p e0242182 (2020)
Background Empirical data on conditions that increase risk of coronavirus disease 2019 (COVID-19) progression are needed to identify high risk individuals. We performed a comprehensive quantitative assessment of pre-existing clinical phenotypes assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::383e688521a2d4e4a21dd11a26c27d08
https://doi.org/10.1371/journal.pone.0242182
https://doi.org/10.1371/journal.pone.0242182
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability
Autor:
Tooraj Mirshahi, Bryn S. Moore
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
Scientific Reports
Scientific Reports
Screening 92,445 subjects in the Geisinger-Regeneron DiscovEHR cohort, we identified 5 patients heterozygous for nonsense mutations causing early terminations at Glu307 or Leu328 on the C-terminus of melanocortin 4 receptor (MC4R). Two Q307Ter carrie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2131e199d0fb74c2ae89c350aa2d42e
https://doi.org/10.1038/s41598-018-28758-3
https://doi.org/10.1038/s41598-018-28758-3
Publikováno v:
Journal of Biological Chemistry. 288:18842-18852
Ionotropic glutamate receptor (iGluR) channels control synaptic activity. The crystallographic structure of GluA2, the prototypical iGluR, reveals a clamshell-like ligand-binding domain (LBD) that closes in the presence of glutamate to open a gate on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bda21bf22f44413c3ebeb82d272e1b
https://doi.org/10.1074/jbc.m113.465187
https://doi.org/10.1074/jbc.m113.465187
Autor:
Julian M. Rozenberg, Tooraj Mirshahi, Bryn S. Moore, Anne M Moon, Ashley Firment, Pavan Kumar P, Uchenna Emechebe
Publikováno v:
eLife, Vol 5 (2016)
eLife
eLife
Crucial roles for T-box3 in development are evident by severe limb malformations and other birth defects caused by T-box3 mutations in humans. Mechanisms whereby T-box3 regulates limb development are poorly understood. We discovered requirements for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b5a101ab27f11fc7309c076e58ed34
https://elifesciences.org/articles/07897
https://elifesciences.org/articles/07897