Search Results - "Moore, Bryn S"

Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability by Moore, Bryn S., Mirshahi, Tooraj

“…Screening 92,445 subjects in the Geisinger-Regeneron DiscovEHR cohort, we identified 5 patients heterozygous for nonsense mutations causing early terminations…”
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Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients by Oetjens, Matthew T, Luo, Jonathan Z, Chang, Alexander, Leader, Joseph B, Hartzel, Dustin N, Moore, Bryn S, Strande, Natasha T, Kirchner, H Lester, Ledbetter, David H, Justice, Anne E, Carey, David J, Mirshahi, Tooraj

“…Empirical data on conditions that increase risk of coronavirus disease 2019 (COVID-19) progression are needed to identify high risk individuals. We performed a…”
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Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants by Moore, Bryn S, Mirshahi, Uyenlinh L, Yost, Evan A, Stepanchick, Ann N, Bedrin, Michael D, Styer, Amanda M, Jackson, Kathryn K, Still, Christopher D, Breitwieser, Gerda E, Gerhard, Glenn S, Carey, David J, Mirshahi, Tooraj

“…The melanocortin 4 receptor (MC4R) critically regulates feeding and satiety. Rare variants in MC4R are predominantly found in obese individuals. Though some…”
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ALG9 Mutation Carriers Develop Kidney and Liver Cysts by Besse, Whitney, Chang, Alex R, Luo, Jonathan Z, Triffo, William J, Moore, Bryn S, Gulati, Ashima, Hartzel, Dustin N, Mane, Shrikant, Torres, Vicente E, Somlo, Stefan, Mirshahi, Tooraj

“…Mutations in or cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic…”
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Cilia have high cAMP levels that are inhibited by Sonic Hedgehog-regulated calcium dynamics by Moore, Bryn S., Stepanchick, Ann N., Tewson, Paul H., Hartle, Cassandra M., Zhang, Jin, Quinn, Anne Marie, Hughes, Thomas E., Mirshahi, Tooraj

“…Protein kinase A (PKA) phosphorylates Gli proteins, acting as a negative regulator of the Hedgehog pathway. PKA was recently detected within the cilium, and…”
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Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease by Chang, Alexander R, Moore, Bryn S, Luo, Jonathan Z, Sartori, Gino, Fang, Brian, Jacobs, Steven, Abdalla, Yoosif, Taher, Mohammed, Carey, David J, Triffo, William J, Singh, Gurmukteshwar, Mirshahi, Tooraj

“…IMPORTANCE: Most studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These…”
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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants by Moore, Bryn S., Luo, Jonathan Z., Stepanchick, Ann N., Mirshahi, Tooraj

“…Purpose Genetic variation in MC1R is a main determinant of red hair color (RHC) phenotype and confers susceptibility to skin disorders. Methods We assessed the…”
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The Phenotypic Spectrum of COL4A3 Heterozygotes by Solanki, Kaushal V., Hu, Yirui, Moore, Bryn S., Abedi, Vida, Avula, Venkatesh, Mirshahi, Tooraj, Strande, Natasha T., Bucaloiu, Ion D., Chang, Alexander R.

“…The penetrance and phenotypic spectrum of autosomal dominant Alport Syndrome (ADAS), affecting 1 in 106, remains understudied. Using data from 174,418…”
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A Conserved Mechanism for Gating in an Ionotropic Glutamate Receptor by Moore, Bryn S., Mirshahi, Uyenlinh L., Ebersole, Tonya L., Mirshahi, Tooraj

“…Ionotropic glutamate receptor (iGluR) channels control synaptic activity. The crystallographic structure of GluA2, the prototypical iGluR, reveals a…”
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Elucidating the Genetics of Unresolved PKD in a Large Unselected Cohort: SA-PO771 by Moore, Bryn S., Chang, Alexander R., Mirshahi, Tooraj

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Genotype-First Analysis in an Unselected Health System-Based Population Reveals Variable Penetrance of COL4A5 Variants: TH-PO448 by Chang, Alexander R., Zellers, Mckenzie R., Solanki, Kaushal V., Moore, Bryn S., Mirshahi, Tooraj

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Underrecognition and Treatment of Autosomal Dominant Alport Syndrome in a Health System-Based Research Cohort: SA-PO552 by Solanki, Kaushal V., Moore, Bryn S., Strande, Natasha T., Bucaloiu, Ion D., Chang, Alex R.

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Rare Variants and Risk of ESKD: The Geisinger MyCode-DiscovEHR Study: PO1331 by Chang, Alex R., Moore, Bryn S., Singh, Gurmukteshwar, Anand, Prince M., Strande, Natasha T., Mirshahi, Tooraj

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Prevalence and Phenotypic Spectrum of Heterozygous SLC34A3 Mutations in a Large Genetic Database: SA-PO582 by Nwachukwu, Chinedu O., Singh, Gurmukteshwar, Moore, Bryn S., Strande, Natasha T., Bucaloiu, Ion D., Chang, Alex R.

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Phenotypic Spectrum of COL4A3 Variants: The Geisinger MyCode/DiscovEHR Study: TH-OR33 by Solanki, Kaushal V., Moore, Bryn S., Rheault, Michelle N., Strande, Natasha T., Bucaloiu, Ion D., Chang, Alex R.

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Polycystin-1/Polycystin-2 Mediated Calcium Entry into Cilia during Sonic Hedgehog Signaling by Moore, Bryn S., Stepanchick, Ann N., Luo, Jonathan Z., Mirshahi, Tooraj

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Gating of GluA2 Receptors is Mediated by a Pivot in the M3 Helix by Moore, Bryn S., Ebersole, Tonya L., Mirshahi, Uyenlinh L., Mirshahi, Tooraj

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Isolation, Characterization, and DNA Binding Kinetics of Three Dirhodium(II,II) Carboxyamidate Complexes: Rh 2 (μ-L)(HNOCCF 3 ) 3 where L= [OOCCH 3 ] − , [OOCCF 3 ] − , or [HNOCCF 3 ] by Dunham, Shari U., Remaley, Todd S., Moore, Bryn S., Evans, Debra L., Dunham, Stephen U.

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Isolation, Characterization, and DNA Binding Kinetics of Three Dirhodium(II,II) Carboxyamidate Complexes: Rh2(μ-L)(HNOCCF3)3 where L= [OOCCH3]−, [OOCCF3]−, or [HNOCCF3] by Dunham, Shari U, Remaley, Todd S, Moore, Bryn S, Evans, Debra L, Dunham, Stephen U

“…Several transition metal compounds are effective antitumor drugs whose biological activity can be attributed to their ability to bind deoxyribonucleic acid…”
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