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Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
Toyoda Y, Cho SK, Tasic V, Pavelcová K, Bohatá J, Suzuki H, David VA, Yoon J, Pallaiova A, Šaligová J, Nousome D, Cachau R, Winkler CA, Takada T, Stibůrková B. Toyoda Y, et al. Among authors: nousome d. Front Genet. 2023 Jan 17;13:1048330. doi: 10.3389/fgene.2022.1048330. eCollection 2022. Front Genet. 2023. PMID: 36733941 Free PMC article.
The CHK1 inhibitor prexasertib in BRCA wild-type platinum-resistant recurrent high-grade serous ovarian carcinoma: a phase 2 trial.
Giudice E, Huang TT, Nair JR, Zurcher G, McCoy A, Nousome D, Radke MR, Swisher EM, Lipkowitz S, Ibanez K, Donohue D, Malys T, Lee MJ, Redd B, Levy E, Rastogi S, Sato N, Trepel JB, Lee JM. Giudice E, et al. Among authors: nousome d. Nat Commun. 2024 Mar 30;15(1):2805. doi: 10.1038/s41467-024-47215-6. Nat Commun. 2024. PMID: 38555285 Free PMC article. Clinical Trial.
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Thangam M, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I… See abstract for full author list ➔ Suzuki K, et al. Among authors: nousome d. Nature. 2024 Mar;627(8003):347-357. doi: 10.1038/s41586-024-07019-6. Epub 2024 Feb 19. Nature. 2024. PMID: 38374256 Free PMC article.
Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.
Biswas K, Mitrophanov AY, Sahu S, Sullivan T, Southon E, Nousome D, Reid S, Narula S, Smolen J, Sengupta T, Riedel-Topper M, Kapoor M, Babbar A, Stauffer S, Cleveland L, Tandon M, Malys T, Sharan SK. Biswas K, et al. Among authors: nousome d. Cell Rep Methods. 2023 Nov 20;3(11):100628. doi: 10.1016/j.crmeth.2023.100628. Epub 2023 Nov 2. Cell Rep Methods. 2023. PMID: 37922907 Free PMC article.
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
Sahu S, Sullivan TL, Mitrophanov AY, Galloux M, Nousome D, Southon E, Caylor D, Mishra AP, Evans CN, Clapp ME, Burkett S, Malys T, Chari R, Biswas K, Sharan SK. Sahu S, et al. Among authors: nousome d. PLoS Genet. 2023 Sep 15;19(9):e1010940. doi: 10.1371/journal.pgen.1010940. eCollection 2023 Sep. PLoS Genet. 2023. PMID: 37713444 Free PMC article.
BLM overexpression as a predictive biomarker for CHK1 inhibitor response in PARP inhibitor-resistant BRCA-mutant ovarian cancer.
Gupta N, Huang TT, Nair JR, An D, Zurcher G, Lampert EJ, McCoy A, Cimino-Mathews A, Swisher EM, Radke MR, Lockwood CM, Reichel JB, Chiang CY, Wilson KM, Cheng KC, Nousome D, Lee JM. Gupta N, et al. Among authors: nousome d. Sci Transl Med. 2023 Jun 21;15(701):eadd7872. doi: 10.1126/scitranslmed.add7872. Epub 2023 Jun 21. Sci Transl Med. 2023. PMID: 37343085 Free PMC article. Clinical Trial.
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, Arruda ALSV, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franco OH, Frayling TM, Freedm… See abstract for full author list ➔ Suzuki K, et al. Among authors: nousome d. medRxiv [Preprint]. 2023 Mar 31:2023.03.31.23287839. doi: 10.1101/2023.03.31.23287839. medRxiv. 2023. PMID: 37034649 Free PMC article. Preprint.
33 results