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Identification and characterization of human GDF15 knockouts.
Gurtan AM, Khalid S, Koch C, Khan MZ, Lamarche LB, Splawski I, Dolan E, Carrion AM, Zessis R, Clement ME, Chen Z, Lindsley LD, Chiu YH, Streeper RS, Denning DP, Goldfine AB, Doyon B, Abbasi A, Harrow JL, Tsunoyama K, Asaumi M, Kou I, Shuldiner AR, Rodriguez-Flores JL, Rasheed A, Jahanzaib M, Mian MR, Liaqat MB, Raza SS, Sultana R, Jalal A, Saeed MH, Abbas S, Memon FR, Ishaq M, Dominy JE, Saleheen D. Gurtan AM, et al. Among authors: khalid s. Nat Metab. 2024 Oct;6(10):1913-1921. doi: 10.1038/s42255-024-01135-3. Epub 2024 Sep 26. Nat Metab. 2024. PMID: 39327531
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, Backman J, Sepehrband F, Gioia SAD, Gelfman S, De T, Banerjee N, Sharma D, Martinez H, Castaneda S, D'Ambrosio D, Zhang XA, Xun P, Tsai E, Tsai IC; Regeneron Genetics Center; Khan MZ, Jahanzaib M, Mian MR, Liaqat MB, Mahmood K, Salam TU, Hussain M, Iqbal J, Aslam F, Cantor MN, Tzoneva G, Overton J, Marchini J, Reid JG, Baras A, Verweij N, Lotta LA, Coppola G, Karalis K, Economides A, Fazio S, Liedtke W, Danesh J, Kamal A, Frossard P, Coleman T, Shuldiner AR, Saleheen D. Rodriguez-Flores JL, et al. Among authors: khalid s. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone.
Dunn ME, Kithcart A, Kim JH, Ho AJ, Franklin MC, Romero Hernandez A, de Hoon J, Botermans W, Meyer J, Jin X, Zhang D, Torello J, Jasewicz D, Kamat V, Garnova E, Liu N, Rosconi M, Pan H, Karnik S, Burczynski ME, Zheng W, Rafique A, Nielsen JB, De T, Verweij N, Pandit A, Locke A, Chalasani N, Melander O, Schwantes-An TH; Penn Medicine Biobank; Baras A, Lotta LA, Musser BJ, Mastaitis J, Devalaraja-Narashimha KB, Rankin AJ, Huang T, Herman G, Olson W, Murphy AJ, Yancopoulos GD, Olenchock BA, Morton L. Dunn ME, et al. Nature. 2024 Sep;633(8030):654-661. doi: 10.1038/s41586-024-07903-1. Epub 2024 Sep 11. Nature. 2024. PMID: 39261724 Free PMC article. Clinical Trial.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center; Torres VE, Somlo S, Mirshahi T. Besse W, et al. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8. J Am Soc Nephrol. 2019. PMID: 31395617 Free PMC article.
1,371 results