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1. Plasma proteomic associations with genetics and health in the UK Biobank

Author

Sun, Benjamin B., Chiou, Joshua, Traylor, Matthew, Benner, Christian, Hsu, Yi-Hsiang, Richardson, Tom G., Surendran, Praveen, Mahajan, Anubha, Robins, Chloe, Vasquez-Grinnell, Steven G., Hou, Liping, Kvikstad, Erika M., Burren, Oliver S., Davitte, Jonathan, Ferber, Kyle L., Gillies, Christopher E., Hedman, Åsa K., Hu, Sile, Lin, Tinchi, Mikkilineni, Rajesh, Pendergrass, Rion K., Pickering, Corran, Prins, Bram, Baird, Denis, Chen, Chia-Yen, Ward, Lucas D., Deaton, Aimee M., Welsh, Samantha, Willis, Carissa M., Lehner, Nick, Arnold, Matthias, Wörheide, Maria A., Suhre, Karsten, Kastenmüller, Gabi, Sethi, Anurag, Cule, Madeleine, Raj, Anil, Burkitt-Gray, Lucy, Melamud, Eugene, Black, Mary Helen, Fauman, Eric B., Howson, Joanna M. M., Kang, Hyun Min, McCarthy, Mark I., Nioi, Paul, Petrovski, Slavé, Scott, Robert A., Smith, Erin N., Szalma, Sándor, Waterworth, Dawn M., Mitnaul, Lyndon J., Szustakowski, Joseph D., Gibson, Bradford W., Miller, Melissa R., and Whelan, Christopher D.

Published
2023
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4. Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry

Author

Parker, Margaret M., Damrauer, Scott M., Tcheandjieu, Catherine, Erbe, David, Aldinc, Emre, Hawkins, Philip N., Gillmore, Julian D., Hull, Leland E., Lynch, Julie A., Joseph, Jacob, Ticau, Simina, Flynn-Carroll, Alexander O., Deaton, Aimee M., Ward, Lucas D., Assimes, Themistocles L., Tsao, Philip S., Chang, Kyong-Mi, Rader, Daniel J., Fitzgerald, Kevin, Vaishnaw, Akshay K., Hinkle, Gregory, and Nioi, Paul

Published
2021
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5. Treatment response and neurofilament light chain levels with long-term patisiran in hereditary transthyretin-mediated amyloidosis with polyneuropathy: 24-month results of an open-label extension study.

Author

Ticau, Simina, Aldinc, Emre, Polydefkis, Michael, Adams, David, Coelho, Teresa, Ueda, Mitsuharu, Hale, Cecilia, Vest, John, and Nioi, Paul

Subjects
POLYNEUROPATHIES, AMYLOIDOSIS, CYTOPLASMIC filaments, THERAPEUTICS, NEUROPATHY
Abstract

Longitudinal changes in neurofilament light chain (NfL) levels were evaluated alongside prespecified clinical assessments 24 months into the patisiran Global open-label extension (OLE) study in patients with ATTRv amyloidosis with polyneuropathy. All patients enrolled in the Global OLE, from phase III APOLLO and phase II OLE parent studies, received patisiran. Assessments included measures of polyneuropathy (modified Neuropathy Impairment Score+7 (mNIS+7)), quality of life (QOL; Norfolk QOL-Diabetic Neuropathy questionnaire (Norfolk QOL-DN)), and plasma NfL. Patients receiving patisiran in the parent study (APOLLO-patisiran, n = 137; phase II OLE-patisiran, n = 25) demonstrated sustained improvements in mNIS+7 (mean change from parent study baseline (95% confidence interval): APOLLO-patisiran −4.8 (−8.9, −0.6); phase II OLE-patisiran −5.8 (−10.5, −1.2)) and Norfolk QOL-DN (APOLLO-patisiran −2.4 (−7.2, 2.3)), and maintained reduced NfL levels at Global OLE 24 months. After initiating patisiran in the Global OLE, APOLLO-placebo patients (n = 49) demonstrated stabilized mNIS+7, improved Norfolk QOL-DN, and significantly reduced NfL levels. Patisiran continued to demonstrate an acceptable safety profile. Earlier patisiran initiation was associated with a lower exposure-adjusted mortality rate. Long-term patisiran treatment led to sustained improvements in neuropathy and QOL, with NfL demonstrating potential as a biomarker for disease progression and treatment response in ATTRv amyloidosis with polyneuropathy. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Blood pressure-independent renoprotective effects of small interference RNA targeting liver angiotensinogen in experimental diabetes

Author

Cruz-Lopez, Edwyn O., Ren, Liwei, Uijl, Estrellita, Clahsen-van Groningen, Marian C., van Veghel, Richard, Garrelds, Ingrid M., Domenig, Oliver, Poglitsch, Marko, Zlatev, Ivan, Rooney, Timothy, Kasper, Anne, Nioi, Paul, Foster, Don, Danser, A. H. Jan, Cruz-Lopez, Edwyn O., Ren, Liwei, Uijl, Estrellita, Clahsen-van Groningen, Marian C., van Veghel, Richard, Garrelds, Ingrid M., Domenig, Oliver, Poglitsch, Marko, Zlatev, Ivan, Rooney, Timothy, Kasper, Anne, Nioi, Paul, Foster, Don, and Danser, A. H. Jan

Abstract

Background and Purpose Small interfering RNA (siRNA) targeting liver angiotensinogen lowers blood pressure, but its effects in hypertensive diabetes are unknown. Experimental Approach To address this, TGR (mRen2)27 rats (angiotensin II-dependent hypertension model) were made diabetic with streptozotocin over 18 weeks and treated with either vehicle, angiotensinogen siRNA, the AT(1) antagonist valsartan, the ACE inhibitor captopril, valsartan + siRNA or valsartan + captopril for the final 3 weeks. Mean arterial pressure (MAP) was measured via radiotelemetry. Key Results MAP before treatment was 153 +/- 2 mmHg. Diabetes resulted in albuminuria, accompanied by glomerulosclerosis and podocyte effacement, without a change in glomerular filtration rate. All treatments lowered MAP and cardiac hypertrophy, and the largest drop in MAP was observed with siRNA + valsartan. Treatment with siRNA lowered circulating angiotensinogen by >99%, and the lowest circulating angiotensin II and aldosterone levels occurred in the dual treatment groups. Angiotensinogen siRNA did not affect renal angiotensinogen mRNA expression, confirming its liver-specificity. Furthermore, only siRNA with or without valsartan lowered renal angiotensin I. All treatments lowered renal angiotensin II and the reduction was largest (>95%) in the siRNA + valsartan group. All treatments identically lowered albuminuria, whereas only siRNA with or without valsartan restored podocyte foot processes and reduced glomerulosclerosis. Conclusion and Implications Angiotensinogen siRNA exerts renoprotection in diabetic TGR (mRen2)27 rats and this relies, at least in part, on the suppression of renal angiotensin II formation from liver-derived angiotensinogen. Clinical trials should now address whether this is also beneficial in human diabetic kidney disease.

Published
2023

14. Treatment response and neurofilament light chain levels with long-term patisiran in hereditary transthyretin-mediated amyloidosis with polyneuropathy: 24-month results of an open-label extension study

Author

Ticau, Simina, Aldinc, Emre, Polydefkis, Michael, Adams, David, Coelho, Teresa, Ueda, Mitsuharu, Hale, Cecilia, Vest, John, and Nioi, Paul

Abstract

Longitudinal changes in neurofilament light chain (NfL) levels were evaluated alongside prespecified clinical assessments 24 months into the patisiran Global open-label extension (OLE) study in patients with ATTRv amyloidosis with polyneuropathy. All patients enrolled in the Global OLE, from phase III APOLLO and phase II OLE parent studies, received patisiran. Assessments included measures of polyneuropathy (modified Neuropathy Impairment Score+7 (mNIS+7)), quality of life (QOL; Norfolk QOL-Diabetic Neuropathy questionnaire (Norfolk QOL-DN)), and plasma NfL. Patients receiving patisiran in the parent study (APOLLO-patisiran, n = 137; phase II OLE-patisiran, n = 25) demonstrated sustained improvements in mNIS+7 (mean change from parent study baseline (95% confidence interval): APOLLO-patisiran −4.8 (−8.9, −0.6); phase II OLE-patisiran −5.8 (−10.5, −1.2)) and Norfolk QOL-DN (APOLLO-patisiran −2.4 (−7.2, 2.3)), and maintained reduced NfL levels at Global OLE 24 months. After initiating patisiran in the Global OLE, APOLLO-placebo patients (n = 49) demonstrated stabilized mNIS+7, improved Norfolk QOL-DN, and significantly reduced NfL levels. Patisiran continued to demonstrate an acceptable safety profile. Earlier patisiran initiation was associated with a lower exposure-adjusted mortality rate. Long-term patisiran treatment led to sustained improvements in neuropathy and QOL, with NfL demonstrating potential as a biomarker for disease progression and treatment response in ATTRv amyloidosis with polyneuropathy.

Published
2023
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15. Blood pressure‐independent renoprotective effects of small interference RNA targeting liver angiotensinogen in experimental diabetes

Author

Cruz‐López, Edwyn O., primary, Ren, Liwei, additional, Uijl, Estrellita, additional, Clahsen‐van Groningen, Marian C., additional, van Veghel, Richard, additional, Garrelds, Ingrid M., additional, Domenig, Oliver, additional, Poglitsch, Marko, additional, Zlatev, Ivan, additional, Rooney, Timothy, additional, Kasper, Anne, additional, Nioi, Paul, additional, Foster, Don, additional, and Danser, A. H. Jan, additional

Published
2022
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16. Conventional Vasopressor and Vasopressor‐Sparing Strategies to Counteract the Blood Pressure–Lowering Effect of Small Interfering RNA Targeting Angiotensinogen

Author

Uijl, Estrellita, primary, Ye, Dien, additional, Ren, Liwei, additional, Mirabito Colafella, Katrina M., additional, van Veghel, Richard, additional, Garrelds, Ingrid M., additional, Lu, Hong S., additional, Daugherty, Alan, additional, Hoorn, Ewout J., additional, Nioi, Paul, additional, Foster, Don, additional, and Danser, A. H. Jan, additional

Published
2022
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17. A rare missense variant in NR1H4 associates with lower cholesterol levels

Author

Deaton, Aimee M., Sulem, Patrick, Nioi, Paul, Benonisdottir, Stefania, Ward, Lucas D., Davidsson, Olafur B., Lao, Socheata, Helgadottir, Anna, Fan, Fan, Jensson, Brynjar O., Norddahl, Gudmundur L., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Kristjansson, Ragnar P., Oddsson, Asmundur, Arnadottir, Gudny A., Jonsson, Hakon, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Bjornsson, Einar S., Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Thorgeirsson, Gudmundur, Masson, Gisli, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Holm, Hilma, Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2018
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18. BLOOD PRESSURE-INDEPENDENT RENOPROTECTION IN DIABETIC RATS TREATED WITH SMALL INTERFERING RNA TARGETING LIVER ANGIOTENSINOGEN

Author

Lopez, Edwyn Omar Cruz, primary, Ren, Liwei, additional, Uijl, Estrellita, additional, Clahsen-Van Groningen, Marian C., additional, Van Veghel, Richard, additional, Garrelds, Ingrid M., additional, Domenig, Oliver, additional, Poglitsch, Marko, additional, Zlatev, Ivan, additional, Rooney, Timothy, additional, Kasper, Anne, additional, Nioi, Paul, additional, Foster, Don, additional, and Danser, A.H. Jan, additional

Published
2022
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19. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

Author

Nioi, Paul, Sigurdsson, Asgeir, Thorleifsson, Gudmar, Helgason, Hannes, Agustsdottir, Arna B., Norddahl, Gudmundur L., Helgadottir, Anna, Magnusdottir, Audur, Jonasdottir, Aslaug, Gretarsdottir, Solveig, Jonsdottir, Ingileif, Steinthorsdottir, Valgerdur, Rafnar, Thorunn, Swinkels, Dorine W., Galesloot, Tessel E., Grarup, Niels, Jørgensen, Torben, Vestergaard, Henrik, Hansen, Torben, Lauritzen, Torsten, Linneberg, Allan, Friedrich, Nele, Krarup, Nikolaj T., Fenger, Mogens, Abildgaard, Ulrik, Hansen, Peter R., Galløe, Anders M., Braund, Peter S., Nelson, Christopher P., Hall, Alistair S., Williams, Michael J.A., van Rij, Andre M., Jones, Gregory T., Patel, Riyaz S., Levey, Allan I., Hayek, Salim, Shah, Svati H., Reilly, Muredach, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Olafsson, Isleifur, Kiemeney, Lambertus A., Quyyumi, Arshed A., Rader, Daniel J., Kraus, William E., Samani, Nilesh J., Pedersen, Oluf, Thorgeirsson, Gudmundur, Masson, Gisli, Holm, Hilma, Gudbjartsson, Daniel, Sulem, Patrick, Thorsteinsdottir, Unnur, and Stefansson, Kari

Published
2016
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20. Blood pressure-independent renoprotection in diabetic rats treated with small interfering RNA targeting liver angiotensinogen

Author

Lopez, Edwyn Omar Cruz, Ren, Liwei, Uijl, Estrellita, Clahsen-Van Groningen, Marian C., Van Veghel, Richard, Garrelds, Ingrid M., Domenig, Oliver, Poglitsch, Marko, Zlatev, Ivan, Rooney, Timothy, Kasper, Anne, Nioi, Paul, Foster, Don, Danser, A. H.Jan, Lopez, Edwyn Omar Cruz, Ren, Liwei, Uijl, Estrellita, Clahsen-Van Groningen, Marian C., Van Veghel, Richard, Garrelds, Ingrid M., Domenig, Oliver, Poglitsch, Marko, Zlatev, Ivan, Rooney, Timothy, Kasper, Anne, Nioi, Paul, Foster, Don, and Danser, A. H.Jan

Abstract

OBJECTIVE: Small interfering RNA (siRNA) targeting liver angiotensinogen (AGT) exerts beneficial effects on blood pressure and kidney function, but its effects in diabetes are still unknown. DESIGN AND METHOD: To address this, TGR(mREN2)27 rats (a model of angiotensin II-dependent hypertension) were made diabetic with streptozotocin for 18 weeks and treated with vehicle, AGT siRNA, the angiotensin receptor blocker valsartan, the ACE inhibitor captopril, valsartan + siRNA, or valsartan + captopril for the final 3 weeks. Arterial pressure was measured via radiotelemetry. RESULTS: Baseline mean arterial pressure (MAP) was 164 ± 1 mm Hg. Diabetes resulted in albuminuria, accompanied by glomerulosclerosis and podocyte effacement, without a further rise in MAP or a change in glomerular filtration rate. All treatments lowered MAP (by ~50 mm Hg) and cardiac hypertrophy identically. Treatment with siRNA resulted in the largest reduction in AGT, while in combination with valsartan AGT virtually disappeared. Only the dual treatment groups and captopril lowered circulating angiotensin II and aldosterone. No treatment affected renal AGT mRNA expression, confirming the liver-specificity of the siRNA. Yet, siRNA with or without valsartan, and valsartan + captopril, but not valsartan alone, or captopril alone, reduced renal angiotensin I and II. All treatments lowered albuminuria and proteinuria, while only siRNA with or without valsartan improved glomerulosclerosis and podocyte dysfunction. Multiple linear regression confirmed both mean arterial pressure and renal angiotensin II as independent determinants of albuminuria. CONCLUSIONS: In conclusion, AGT siRNA exerts renoprotection in diabetic TGR(mREN2)27 rats, and this relies, at least in part, on the suppression of renal angiotensin II formation from liver-derived AGT. Consequently, AGT siRNA may prove beneficial in human diabetic kidney disease.

Published
2022

22. Blood pressure‐independent renoprotective effects of small interference RNA targeting liver angiotensinogen in experimental diabetes.

Author

Cruz‐López, Edwyn O., Ren, Liwei, Uijl, Estrellita, Clahsen‐van Groningen, Marian C., van Veghel, Richard, Garrelds, Ingrid M., Domenig, Oliver, Poglitsch, Marko, Zlatev, Ivan, Rooney, Timothy, Kasper, Anne, Nioi, Paul, Foster, Don, and Danser, A. H. Jan

Subjects
ANGIOTENSINOGEN, NON-coding RNA, SMALL interfering RNA, DIABETIC nephropathies, ANGIOTENSIN II
Abstract

Background and Purpose: Small interfering RNA (siRNA) targeting liver angiotensinogen lowers blood pressure, but its effects in hypertensive diabetes are unknown. Experimental Approach: To address this, TGR (mRen2)27 rats (angiotensin II‐dependent hypertension model) were made diabetic with streptozotocin over 18 weeks and treated with either vehicle, angiotensinogen siRNA, the AT1 antagonist valsartan, the ACE inhibitor captopril, valsartan + siRNA or valsartan + captopril for the final 3 weeks. Mean arterial pressure (MAP) was measured via radiotelemetry. Key Results: MAP before treatment was 153 ± 2 mmHg. Diabetes resulted in albuminuria, accompanied by glomerulosclerosis and podocyte effacement, without a change in glomerular filtration rate. All treatments lowered MAP and cardiac hypertrophy, and the largest drop in MAP was observed with siRNA + valsartan. Treatment with siRNA lowered circulating angiotensinogen by >99%, and the lowest circulating angiotensin II and aldosterone levels occurred in the dual treatment groups. Angiotensinogen siRNA did not affect renal angiotensinogen mRNA expression, confirming its liver‐specificity. Furthermore, only siRNA with or without valsartan lowered renal angiotensin I. All treatments lowered renal angiotensin II and the reduction was largest (>95%) in the siRNA + valsartan group. All treatments identically lowered albuminuria, whereas only siRNA with or without valsartan restored podocyte foot processes and reduced glomerulosclerosis. Conclusion and Implications: Angiotensinogen siRNA exerts renoprotection in diabetic TGR (mRen2)27 rats and this relies, at least in part, on the suppression of renal angiotensin II formation from liver‐derived angiotensinogen. Clinical trials should now address whether this is also beneficial in human diabetic kidney disease. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

Author

Kosmicki, Jack A., primary, Horowitz, Julie E., additional, Banerjee, Nilanjana, additional, Lanche, Rouel, additional, Marcketta, Anthony, additional, Maxwell, Evan, additional, Bai, Xiaodong, additional, Sun, Dylan, additional, Backman, Joshua D., additional, Sharma, Deepika, additional, Kury, Fabricio S.P., additional, Kang, Hyun M., additional, O’Dushlaine, Colm, additional, Yadav, Ashish, additional, Mansfield, Adam J., additional, Li, Alexander H., additional, Watanabe, Kyoko, additional, Gurski, Lauren, additional, McCarthy, Shane E., additional, Locke, Adam E., additional, Khalid, Shareef, additional, O’Keeffe, Sean, additional, Mbatchou, Joelle, additional, Chazara, Olympe, additional, Huang, Yunfeng, additional, Kvikstad, Erika, additional, O’Neill, Amanda, additional, Nioi, Paul, additional, Parker, Meg M., additional, Petrovski, Slavé, additional, Runz, Heiko, additional, Szustakowski, Joseph D., additional, Wang, Quanli, additional, Wong, Emily, additional, Cordova-Palomera, Aldo, additional, Smith, Erin N., additional, Szalma, Sandor, additional, Zheng, Xiuwen, additional, Esmaeeli, Sahar, additional, Davis, Justin W., additional, Lai, Yi-Pin, additional, Chen, Xing, additional, Justice, Anne E., additional, Leader, Joseph B., additional, Mirshahi, Tooraj, additional, Carey, David J., additional, Verma, Anurag, additional, Sirugo, Giorgio, additional, Ritchie, Marylyn D., additional, Rader, Daniel J., additional, Povysil, Gundula, additional, Goldstein, David B., additional, Kiryluk, Krzysztof, additional, Pairo-Castineira, Erola, additional, Rawlik, Konrad, additional, Pasko, Dorota, additional, Walker, Susan, additional, Meynert, Alison, additional, Kousathanas, Athanasios, additional, Moutsianas, Loukas, additional, Tenesa, Albert, additional, Caulfield, Mark, additional, Scott, Richard, additional, Wilson, James F., additional, Baillie, J. Kenneth, additional, Butler-Laporte, Guillaume, additional, Nakanishi, Tomoko, additional, Lathrop, Mark, additional, Richards, J. Brent, additional, Jones, Marcus, additional, Balasubramanian, Suganthi, additional, Salerno, William, additional, Shuldiner, Alan R., additional, Marchini, Jonathan, additional, Overton, John D., additional, Habegger, Lukas, additional, Cantor, Michael N., additional, Reid, Jeffrey G., additional, Baras, Aris, additional, Abecasis, Goncalo R., additional, and Ferreira, Manuel A.R., additional

Published
2021
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26. Association of the transthyretin variant V122I with polyneuropathy among individuals of African descent

Author

Parker, Margaret M., primary, Damrauer, Scott M., additional, Tcheandjieu, Catherine, additional, Erbe, David, additional, Aldinc, Emre, additional, Hawkins, Philip N., additional, Gillmore, Julian D., additional, Hull, Leland E., additional, Lynch, Julie A., additional, Joseph, Jacob, additional, Ticau, Simina, additional, Flynn-Carroll, Alexander O., additional, Deaton, Aimee M., additional, Ward, Lucas D., additional, Assimes, Themistocles L., additional, Tsao, Philip S., additional, Chang, Kyong-Mi, additional, Rader, Daniel J., additional, Fitzgerald, Kevin, additional, Vaishnaw, Akshay K., additional, Hinkle, Gregory, additional, and Nioi, Paul, additional

Published
2020
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27. Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

Author

Szustakowski, Joseph D., primary, Balasubramanian, Suganthi, additional, Sasson, Ariella, additional, Khalid, Shareef, additional, Bronson, Paola G., additional, Kvikstad, Erika, additional, Wong, Emily, additional, Liu, Daren, additional, Davis, J. Wade, additional, Haefliger, Carolina, additional, Loomis, A. Katrina, additional, Mikkilineni, Rajesh, additional, Noh, Hyun Ji, additional, Wadhawan, Samir, additional, Bai, Xiaodong, additional, Hawes, Alicia, additional, Krasheninina, Olga, additional, Ulloa, Ricardo, additional, Lopez, Alex, additional, Smith, Erin N., additional, Waring, Jeff, additional, Whelan, Christopher D., additional, Tsai, Ellen A., additional, Overton, John, additional, Salerno, William, additional, Jacob, Howard, additional, Szalma, Sandor, additional, Runz, Heiko, additional, Hinkle, Greg, additional, Nioi, Paul, additional, Petrovski, Slavé, additional, Miller, Melissa R., additional, Baras, Aris, additional, Mitnaul, Lyndon, additional, and Reid, Jeffrey G., additional

Published
2020
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30. Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis

Author

Ticau, Simina, primary, Sridharan, Gautham V., additional, Tsour, Shira, additional, Cantley, William L., additional, Chan, Amy, additional, Gilbert, Jason A., additional, Erbe, David, additional, Aldinc, Emre, additional, Reilly, Mary M., additional, Adams, David, additional, Polydefkis, Michael, additional, Fitzgerald, Kevin, additional, Vaishnaw, Akshay, additional, and Nioi, Paul, additional

Published
2020
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32. The V122I Variant in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy

Author

Parker, Margaret M., primary, Damrauer, Scott M., additional, Tcheandjieu, Catherine, additional, Erbe, David, additional, Aldinc, Emre, additional, Hawkins, Philip N., additional, Gillmore, Julian, additional, Hull, Leland E., additional, Lynch, Julie A., additional, Joseph, Jacob, additional, Ticau, Simina, additional, Flynn-Carroll, Alexander O., additional, Deaton, Aimee M., additional, Ward, Lucas D., additional, Assimes, Themistocles L., additional, Tsao, Philip S., additional, Chang, Kyong-Mi, additional, Rader, Daniel J., additional, Fitzgerald, Kevin, additional, Vaishnaw, Akshay K., additional, Hinkle, Gregory, additional, and Nioi, Paul, additional

Published
2020
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37. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

Author

McGregor, Tracy L, primary, Hunt, Karen A, additional, Yee, Elaine, additional, Mason, Dan, additional, Nioi, Paul, additional, Ticau, Simina, additional, Pelosi, Marissa, additional, Loken, Perry R, additional, Finer, Sarah, additional, Lawlor, Deborah A, additional, Fauman, Eric B, additional, Huang, Qin Qin, additional, Griffiths, Christopher J, additional, MacArthur, Daniel G, additional, Trembath, Richard C, additional, Oglesbee, Devin, additional, Lieske, John C, additional, Erbe, David V, additional, Wright, John, additional, and van Heel, David A, additional

Published
2020
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38. Author response: Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

Author

McGregor, Tracy L, primary, Hunt, Karen A, additional, Yee, Elaine, additional, Mason, Dan, additional, Nioi, Paul, additional, Ticau, Simina, additional, Pelosi, Marissa, additional, Loken, Perry R, additional, Finer, Sarah, additional, Lawlor, Deborah A, additional, Fauman, Eric B, additional, Huang, Qin Qin, additional, Griffiths, Christopher J, additional, MacArthur, Daniel G, additional, Trembath, Richard C, additional, Oglesbee, Devin, additional, Lieske, John C, additional, Erbe, David V, additional, Wright, John, additional, and van Heel, David A, additional

Published
2020
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40. Plasma proteome analysis of patients with hereditary transthyretin-mediated (hATTR) amyloidosis establishes neurofilament light chain (NfL) as a biomarker of disease and treatment response

Author

Ticau, Simina, primary, Sridharan, Gautham V, additional, Tsour, Shira, additional, Cantley, William L, additional, Chan, Amy, additional, Gilbert, Jason A, additional, Erbe, David, additional, Aldinc, Emre, additional, Reilly, Mary M, additional, Adams, David, additional, Polydefkis, Michael, additional, Fitzgerald, Kevin, additional, Vaishnaw, Akshay, additional, and Nioi, Paul, additional

Published
2019
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41. Interlaboratory Evaluation of Genomic Signatures for Predicting Carcinogenicity in the Rat

Author

Fielden, Mark R., Nie, Alex, McMillian, Michael, Elangbam, Chandi S., Trela, Bruce A., Yang, Yi, Dunn, Robert T., II, Dragan, Yvonne, Fransson-Stehen, Ronny, Bogdanffy, Matthew, Adams, Stephen P., Foster, William R., Chen, Shen-Jue, Rossi, Phil, Kasper, Peter, Jacobson-Kram, David, Tatsuoka, Kay S., Wier, Patrick J., Gollub, Jeremy, Halbert, Donald N., Roter, Alan, Young, Jamie K., Sina, Joseph F., Marlowe, Jennifer, Martus, Hans-Joerg, Aubrecht, Jiri, Olaharski, Andrew J., Roome, Nigel, Nioi, Paul, Pardo, Ingrid, Snyder, Ron, Perry, Richard, Lord, Peter, Mattes, William, and Car, Bruce D.

Published
2008

46. Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1

Author

McGregor, Tracy L., primary, Hunt, Karen A., additional, Nioi, Paul, additional, Mason, Dan, additional, Ticau, Simina, additional, Pelosi, Marissa, additional, Loken, Perry R., additional, Finer, Sarah, additional, Griffiths, Christopher J, additional, MacArthur, Daniel G, additional, Trembath, Richard C, additional, Oglesbee, Devin, additional, Lieske, John C., additional, Wright, John, additional, Erbe, David V., additional, and van Heel, David A., additional

Published
2019
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48. Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Author

Szustakowski, Joseph D., Balasubramanian, Suganthi, Kvikstad, Erika, Khalid, Shareef, Bronson, Paola G., Sasson, Ariella, Wong, Emily, Liu, Daren, Wade Davis, J., Haefliger, Carolina, Katrina Loomis, A., Mikkilineni, Rajesh, Noh, Hyun Ji, Wadhawan, Samir, Bai, Xiaodong, Hawes, Alicia, Krasheninina, Olga, Ulloa, Ricardo, Lopez, Alex E., Smith, Erin N., Waring, Jeffrey F., Whelan, Christopher D., Tsai, Ellen A., Overton, John D., Salerno, William J., Jacob, Howard, Szalma, Sandor, Runz, Heiko, Hinkle, Gregory, Nioi, Paul, Petrovski, Slavé, Miller, Melissa R., Baras, Aris, Mitnaul, Lyndon J., and Reid, Jeffrey G.

Abstract

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete the sequencing of exomes for all ~500,000 UKB participants. Here, we describe the early results from ~200,000 UKB participants and the features of this project that enabled its success. The biopharmaceutical industry has increasingly used human genetics to improve success in drug discovery. Recognizing the need for large-scale human genetics data, as well as the unique value of the data access and contribution terms of the UKB, the UKB-ESC was formed. As a result, exome data from 200,643 UKB enrollees are now available. These data include ~10 million exonic variants—a rich resource of rare coding variation that is particularly valuable for drug discovery. The UKB-ESC precompetitive collaboration has further strengthened academic and industry ties and has provided teams with an opportunity to interact with and learn from the wider research community.

Published
2021
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