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Page 1
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.
Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, Nguyen T, Smadbeck P, Alexander BR, Brandes M, Carmichael M, Dornbos P, Green T, Huellas-Bruskiewicz KC, Ji Y, Kluge A, McMahon AC, Mercader JM, Ruebenacker O, Sengupta S, Spalding D, Taliun D; AMP-T2D Consortium; Smith P, Thomas MK, Akolkar B, Brosnan MJ, Cherkas A, Chu AY, Fauman EB, Fox CS, Kamphaus TN, Miller MR, Nguyen L, Parsa A, Reilly DF, Ruetten H, Wholley D, Zaghloul NA, Abecasis GR, Altshuler D, Keane TM, McCarthy MI, Gaulton KJ, Florez JC, Boehnke M, Burtt NP, Flannick J. Costanzo MC, et al. Cell Metab. 2023 Apr 4;35(4):695-710.e6. doi: 10.1016/j.cmet.2023.03.001. Epub 2023 Mar 23. Cell Metab. 2023. PMID: 36963395 Free PMC article.
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
Mychaleckyj JC, Valo E, Ichimura T, Ahluwalia TS, Dina C, Miller RG, Shabalin IG, Gyorgy B, Cao J, Onengut-Gumuscu S, Satake E, Smiles AM, Haukka JK, Tregouet DA, Costacou T, O'Neil K, Paterson AD, Forsblom C, Keenan HA, Pezzolesi MG, Pragnell M, Galecki A, Rich SS, Sandholm N, Klein R, Klein BE, Susztak K, Orchard TJ, Korstanje R, King GL, Hadjadj S, Rossing P, Bonventre JV, Groop PH, Warram JH, Krolewski AS. Mychaleckyj JC, et al. J Am Soc Nephrol. 2021 Oct;32(10):2634-2651. doi: 10.1681/ASN.2020101457. Epub 2021 Jul 14. J Am Soc Nephrol. 2021. PMID: 34261756 Free PMC article.
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.
Gu X, Yang H, Sheng X, Ko YA, Qiu C, Park J, Huang S, Kember R, Judy RL, Park J, Damrauer SM, Nadkarni G, Loos RJF, My VTH, Chaudhary K, Bottinger EP, Paranjpe I, Saha A, Brown C, Akilesh S, Hung AM, Palmer M, Baras A, Overton JD, Reid J, Ritchie M, Rader DJ, Susztak K. Gu X, et al. Sci Transl Med. 2021 Jan 13;13(576):eaaz1458. doi: 10.1126/scitranslmed.aaz1458. Sci Transl Med. 2021. PMID: 33441424 Free PMC article.
The Nuclear Receptor ESRRA Protects from Kidney Disease by Coupling Metabolism and Differentiation.
Dhillon P, Park J, Hurtado Del Pozo C, Li L, Doke T, Huang S, Zhao J, Kang HM, Shrestra R, Balzer MS, Chatterjee S, Prado P, Han SY, Liu H, Sheng X, Dierickx P, Batmanov K, Romero JP, Prósper F, Li M, Pei L, Kim J, Montserrat N, Susztak K. Dhillon P, et al. Cell Metab. 2021 Feb 2;33(2):379-394.e8. doi: 10.1016/j.cmet.2020.11.011. Epub 2020 Dec 9. Cell Metab. 2021. PMID: 33301705 Free PMC article.
Podocytopathies.
Kopp JB, Anders HJ, Susztak K, Podestà MA, Remuzzi G, Hildebrandt F, Romagnani P. Kopp JB, et al. Nat Rev Dis Primers. 2020 Aug 13;6(1):68. doi: 10.1038/s41572-020-0196-7. Nat Rev Dis Primers. 2020. PMID: 32792490 Free PMC article. Review.
72 results