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86 results

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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
The genetic architecture of type 2 diabetes.
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS,… See abstract for full author list ➔ Fuchsberger C, et al. Among authors: jenkinson cp. Nature. 2016 Aug 4;536(7614):41-47. doi: 10.1038/nature18642. Epub 2016 Jul 11. Nature. 2016. PMID: 27398621 Free PMC article.
Sparsentan ameliorates glomerular hypercellularity and inflammatory-gene networks induced by IgA1-IgG immune complexes in a mouse model of IgA nephropathy.
Reily C, Moldoveanu Z, Pramparo T, Hall S, Huang ZQ, Rice T, Novak L, Komers R, Jenkinson CP, Novak J. Reily C, et al. Among authors: jenkinson cp. Am J Physiol Renal Physiol. 2024 May 1;326(5):F862-F875. doi: 10.1152/ajprenal.00253.2023. Epub 2024 Mar 21. Am J Physiol Renal Physiol. 2024. PMID: 38511222 Free PMC article.
Comparative properties of arginases.
Jenkinson CP, Grody WW, Cederbaum SD. Jenkinson CP, et al. Comp Biochem Physiol B Biochem Mol Biol. 1996 May;114(1):107-32. doi: 10.1016/0305-0491(95)02138-8. Comp Biochem Physiol B Biochem Mol Biol. 1996. PMID: 8759304 Review.
The human arginases and arginase deficiency.
Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S. Iyer R, et al. Among authors: jenkinson cp. J Inherit Metab Dis. 1998;21 Suppl 1:86-100. doi: 10.1023/a:1005313809037. J Inherit Metab Dis. 1998. PMID: 9686347 Review.
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.
SIGMA Type 2 Diabetes Consortium; Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, García-Ortiz H, Huerta-Chagoya A, Moreno-Macías H, Walford G, Flannick J, Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A, Jiménez-Morales S, Centeno-Cruz F, Mendoza-Caamal E, Revilla-Monsalve C, Islas-Andrade S, Córdova EJ, Soberón X, González-Villalpando ME, Henderson E, Wilkens LR, Le Marchand L, Arellano-Campos O, Ordóñez-Sánchez ML, Rodríguez-Torres M, Rodríguez-Guillén R, Riba L, Najmi LA, Jacobs SB, Fennell T, Gabriel S, Fontanillas P, Hanis CL, Lehman DM, Jenkinson CP, Abboud HE, Bell GI, Cortes ML, Boehnke M, González-Villalpando C, Orozco L, Haiman CA, Tusié-Luna T, Aguilar-Salinas CA, Altshuler D, Njølstad PR, Florez JC, MacArthur DG. SIGMA Type 2 Diabetes Consortium, et al. Among authors: jenkinson cp. JAMA. 2014 Jun 11;311(22):2305-14. doi: 10.1001/jama.2014.6511. JAMA. 2014. PMID: 24915262 Free PMC article.
Framework for precision medicine in focal segmental glomerulosclerosis: Translation of sparsentan-responsive genes in a rat model to kidney disease associated proteins in biofluids.
Eddy S, Nair V, Hartman J, Fermin D, Eichinger F, Godfrey B, Ju W, Hodgin JB, Mariani LH, Bedard PW, Jenkinson CP, Hendry B, Komers R, Inrig J, Kretzler M; Nephrotic Syndrome Study Network (NEPTUNE). Eddy S, et al. Among authors: jenkinson cp. medRxiv [Preprint]. 2025 Feb 27:2025.02.26.25322958. doi: 10.1101/2025.02.26.25322958. medRxiv. 2025. PMID: 40061330 Free PMC article. Preprint.
Further evidence supporting a potential role for ADH1B in obesity.
Morales LD, Cromack DT, Tripathy D, Fourcaudot M, Kumar S, Curran JE, Carless M, Göring HHH, Hu SL, Lopez-Alvarenga JC, Garske KM, Pajukanta P, Small KS, Glastonbury CA, Das SK, Langefeld C, Hanson RL, Hsueh WC, Norton L, Arya R, Mummidi S, Blangero J, DeFronzo RA, Duggirala R, Jenkinson CP. Morales LD, et al. Among authors: jenkinson cp. Sci Rep. 2021 Jan 21;11(1):1932. doi: 10.1038/s41598-020-80563-z. Sci Rep. 2021. PMID: 33479282 Free PMC article.
86 results