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Page 1
Germline Mutations in CIDEB and Protection against Liver Disease.
Verweij N, Haas ME, Nielsen JB, Sosina OA, Kim M, Akbari P, De T, Hindy G, Bovijn J, Persaud T, Miloscio L, Germino M, Panagis L, Watanabe K, Mbatchou J, Jones M, LeBlanc M, Balasubramanian S, Lammert C, Enhörning S, Melander O, Carey DJ, Still CD, Mirshahi T, Rader DJ, Parasoglou P, Walls JR, Overton JD, Reid JG, Economides A, Cantor MN, Zambrowicz B, Murphy AJ, Abecasis GR, Ferreira MAR, Smagris E, Gusarova V, Sleeman M, Yancopoulos GD, Marchini J, Kang HM, Karalis K, Shuldiner AR, Della Gatta G, Locke AE, Baras A, Lotta LA. Verweij N, et al. Among authors: zambrowicz b. N Engl J Med. 2022 Jul 28;387(4):332-344. doi: 10.1056/NEJMoa2117872. N Engl J Med. 2022. PMID: 35939579
Humanized C3 Mouse: A Novel Accelerated Model of C3 Glomerulopathy.
Devalaraja-Narashimha K, Meagher K, Luo Y, Huang C, Kaplan T, Muthuswamy A, Halasz G, Casanova S, O'Brien J, Peyser Boiarsky R, McWhirter J, Gartner H, Bai Y, MacDonnell S, Liu C, Hu Y, Latuszek A, Wei Y, Prasad S, Huang T, Yancopoulos G, Murphy A, Olson W, Zambrowicz B, Macdonald L, Morton LG. Devalaraja-Narashimha K, et al. Among authors: zambrowicz b. J Am Soc Nephrol. 2021 Jan;32(1):99-114. doi: 10.1681/ASN.2020050698. Epub 2020 Dec 7. J Am Soc Nephrol. 2021. PMID: 33288630 Free PMC article.
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P, Gilani A, Sosina O, Kosmicki JA, Khrimian L, Fang YY, Persaud T, Garcia V, Sun D, Li A, Mbatchou J, Locke AE, Benner C, Verweij N, Lin N, Hossain S, Agostinucci K, Pascale JV, Dirice E, Dunn M; Regeneron Genetics Center; DiscovEHR Collaboration; Kraus WE, Shah SH, Chen YI, Rotter JI, Rader DJ, Melander O, Still CD, Mirshahi T, Carey DJ, Berumen-Campos J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Balasubramanian S, Hawes A, Jones M, Zambrowicz B, Murphy AJ, Paulding C, Coppola G, Overton JD, Reid JG, Shuldiner AR, Cantor M, Kang HM, Abecasis GR, Karalis K, Economides AN, Marchini J, Yancopoulos GD, Sleeman MW, Altarejos J, Della Gatta G, Tapia-Conyer R, Schwartzman ML, Baras A, Ferreira MAR, Lotta LA. Akbari P, et al. Among authors: zambrowicz b. Science. 2021 Jul 2;373(6550):eabf8683. doi: 10.1126/science.abf8683. Science. 2021. PMID: 34210852 Free PMC article.
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Among authors: zambrowicz b. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P, Sosina OA, Bovijn J, Landheer K, Nielsen JB, Kim M, Aykul S, De T, Haas ME, Hindy G, Lin N, Dinsmore IR, Luo JZ, Hectors S, Geraghty B, Germino M, Panagis L, Parasoglou P, Walls JR, Halasz G, Atwal GS; Regeneron Genetics Center; DiscovEHR Collaboration; Jones M, LeBlanc MG, Still CD, Carey DJ, Giontella A, Orho-Melander M, Berumen J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Rader DJ, Zambrowicz B, Murphy AJ, Balasubramanian S, Overton JD, Reid JG, Shuldiner AR, Cantor M, Abecasis GR, Ferreira MAR, Sleeman MW, Gusarova V, Altarejos J, Harris C, Economides AN, Idone V, Karalis K, Della Gatta G, Mirshahi T, Yancopoulos GD, Melander O, Marchini J, Tapia-Conyer R, Locke AE, Baras A, Verweij N, Lotta LA. Akbari P, et al. Among authors: zambrowicz b. Nat Commun. 2022 Aug 23;13(1):4844. doi: 10.1038/s41467-022-32398-7. Nat Commun. 2022. PMID: 35999217 Free PMC article.
IL-6-GP130 signaling protects human hepatocytes against lipid droplet accumulation in humanized liver models.
Carbonaro M, Wang K, Huang H, Frleta D, Patel A, Pennington A, Desclaux M, Moller-Tank S, Grindley J, Altarejos J, Zhong J, Polites G, Poueymirou W, Jaspers S, Kyratsous C, Zambrowicz B, Murphy A, Lin JC, Macdonald LE, Daly C, Sleeman M, Thurston G, Li Z. Carbonaro M, et al. Among authors: zambrowicz b. Sci Adv. 2023 Apr 14;9(15):eadf4490. doi: 10.1126/sciadv.adf4490. Epub 2023 Apr 14. Sci Adv. 2023. PMID: 37058568 Free PMC article.
Preclinical, randomized phase 1, and compassionate use evaluation of REGN4461, a leptin receptor agonist antibody for leptin deficiency.
Altarejos JY, Pangilinan J, Podgrabinska S, Akinci B, Foss-Freitas M, Neidert AH, Ray Y, Zheng W, Kim S, Kamat V, Huang M, Min S, Mastaitis J, Dominguez-Gutierrez G, Kim JH, Stevis P, Huang T, Zambrowicz B, Olson WC, Godin S, Bradley E, Gewitz AD, Baker M, Hench R, Davenport MS, Chenevert TL, DiPaola F, Yancopoulos GD, Murphy AJ, Herman GA, Musser BJ, Dansky H, Harp J, Gromada J, Sleeman MW, Oral EA, Olenchock BA. Altarejos JY, et al. Among authors: zambrowicz b. Sci Transl Med. 2023 Nov 22;15(723):eadd4897. doi: 10.1126/scitranslmed.add4897. Epub 2023 Nov 22. Sci Transl Med. 2023. PMID: 37992152 Clinical Trial.
Efficient engraftment and viral transduction of human hepatocytes in an FRG rat liver humanization model.
Carbonaro M, Lee J, Pefanis E, Desclaux M, Wang K, Pennington A, Huang H, Mujica A, Rojas J, Ally R, Kennedy D, Brown M, Rogulin V, Moller-Tank S, Sabin L, Zambrowicz B, Thurston G, Li Z. Carbonaro M, et al. Among authors: zambrowicz b. Sci Rep. 2022 Aug 18;12(1):14079. doi: 10.1038/s41598-022-18119-6. Sci Rep. 2022. PMID: 35982097 Free PMC article.
Disruption of nuclear envelope integrity as a possible initiating event in tauopathies.
Prissette M, Fury W, Koss M, Racioppi C, Fedorova D, Dragileva E, Clarke G, Pohl T, Dugan J, Ahrens D, Chiu J, Hunt C, Siao CJ, Young T, Bhowmick A, Rogulin V, Desclaux M, Hayden EY, Podgorski M, Gao M, Macdonald LE, Frendewey D, Yancopoulos GD, Zambrowicz B. Prissette M, et al. Among authors: zambrowicz b. Cell Rep. 2022 Aug 23;40(8):111249. doi: 10.1016/j.celrep.2022.111249. Cell Rep. 2022. PMID: 36001963 Free article.
Tissue-specific activation of gene expression by the Synergistic Activation Mediator (SAM) CRISPRa system in mice.
Hunt C, Hartford SA, White D, Pefanis E, Hanna T, Herman C, Wiley J, Brown H, Su Q, Xin Y, Voronin D, Nguyen H, Altarejos J, Crosby K, Haines J, Cancelarich S, Drummond M, Moller-Tank S, Malpass R, Buckley J, Del Pilar Molina-Portela M, Droguett G, Frendewey D, Chiao E, Zambrowicz B, Gong G. Hunt C, et al. Among authors: zambrowicz b. Nat Commun. 2021 May 13;12(1):2770. doi: 10.1038/s41467-021-22932-4. Nat Commun. 2021. PMID: 33986266 Free PMC article.
92 results