Publications — Radcliffe Department of Medicine

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Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization

Pal N. et al, (2024), FASEB Journal, 38

Comparing the effects of chemical Ca2+ dyes and R-GECO on contractility and Ca2+ transients in adult and human iPSC cardiomyocytes.

Robinson P. et al, (2023), J Mol Cell Cardiol, 180, 44 - 57

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.

Broadway-Stringer S. et al, (2023), Cells, 12

Activation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations.

Choudhary GS. et al, (2022), Elife, 11

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

Jiang H. et al, (2021), Basic Res Cardiol, 116

U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies.

Smith MA. et al, (2019), Nat Cell Biol, 21, 640 - 650

Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline.

Hennrich ML. et al, (2018), Nat Commun, 9

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.

Pellagatti A. et al, (2018), Blood, 132, 1225 - 1240

Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches.

Armstrong RN. et al, (2018), Adv Biol Regul, 67, 13 - 29

Mammalian γ2 AMPK regulates intrinsic heart rate.

Yavari A. et al, (2017), Nat Commun, 8

The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

Yip BH. et al, (2017), J Clin Invest, 127

The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

Yip BH. et al, (2017), J Clin Invest, 127, 2206 - 2221

Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure.

Cahill TJ. et al, (2016), J Biol Chem, 291

Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.

Dolatshad H. et al, (2016), Leukemia, 30, 2322 - 2331

Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.

Siggs OM. et al, (2016), Proc Natl Acad Sci U S A, 113, E3706 - E3715

Chronic Activation of γ2 AMPK Induces Obesity and Reduces β Cell Function.

Yavari A. et al, (2016), Cell Metab, 23, 821 - 836

Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure.

Cahill TJ. et al, (2015), J Biol Chem, 290, 25907 - 25919

Citric acid cycle intermediates in cardioprotection.

Czibik G. et al, (2014), Circ Cardiovasc Genet, 7, 711 - 719

The role of vascular myoglobin in nitrite-mediated blood vessel relaxation.

Ormerod JOM. et al, (2011), Cardiovasc Res, 89, 560 - 565

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis.

Ashrafian H. et al, (2010), Cancer Res, 70, 9153 - 9165

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