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A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O'Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE. Abul-Husn NS, et al. Among authors: zambrowicz b. N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191. N Engl J Med. 2018. PMID: 29562163 Free PMC article.
ANGPTL8 Blockade With a Monoclonal Antibody Promotes Triglyceride Clearance, Energy Expenditure, and Weight Loss in Mice.
Gusarova V, Banfi S, Alexa-Braun CA, Shihanian LM, Mintah IJ, Lee JS, Xin Y, Su Q, Kamat V, Cohen JC, Hobbs HH, Zambrowicz B, Yancopoulos GD, Murphy AJ, Gromada J. Gusarova V, et al. Among authors: zambrowicz b. Endocrinology. 2017 May 1;158(5):1252-1259. doi: 10.1210/en.2016-1894. Endocrinology. 2017. PMID: 28204173 Free PMC article.
Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity.
Kleiner S, Gomez D, Megra B, Na E, Bhavsar R, Cavino K, Xin Y, Rojas J, Dominguez-Gutierrez G, Zambrowicz B, Carrat G, Chabosseau P, Hu M, Murphy AJ, Yancopoulos GD, Rutter GA, Gromada J. Kleiner S, et al. Among authors: zambrowicz b. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):E7642-E7649. doi: 10.1073/pnas.1721418115. Epub 2018 Jul 23. Proc Natl Acad Sci U S A. 2018. PMID: 30038024 Free PMC article.
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O'Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D. Gillmore JD, et al. Among authors: zambrowicz b. N Engl J Med. 2021 Aug 5;385(6):493-502. doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26. N Engl J Med. 2021. PMID: 34215024 Clinical Trial.
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.
C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.
Atanasio A, Decman V, White D, Ramos M, Ikiz B, Lee HC, Siao CJ, Brydges S, LaRosa E, Bai Y, Fury W, Burfeind P, Zamfirova R, Warshaw G, Orengo J, Oyejide A, Fralish M, Auerbach W, Poueymirou W, Freudenberg J, Gong G, Zambrowicz B, Valenzuela D, Yancopoulos G, Murphy A, Thurston G, Lai KM. Atanasio A, et al. Among authors: zambrowicz b. Sci Rep. 2016 Mar 16;6:23204. doi: 10.1038/srep23204. Sci Rep. 2016. PMID: 26979938 Free PMC article.
Inhibition of complement pathway activation with Pozelimab, a fully human antibody to complement component C5.
Latuszek A, Liu Y, Olsen O, Foster R, Cao M, Lovric I, Yuan M, Liu N, Chen H, Zhang Q, Xiao H, Springer C, Ehrlich G, Kamat V, Rafique A, Hu Y, Krueger P, Huang T, Poueymirou W, Babb R, Rosconi MP, Retter MW, Chen G, Morton L, Zambrowicz B, Cao J, Romano C, Olson WC. Latuszek A, et al. Among authors: zambrowicz b. PLoS One. 2020 May 8;15(5):e0231892. doi: 10.1371/journal.pone.0231892. eCollection 2020. PLoS One. 2020. PMID: 32384086 Free PMC article.
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. Nistala H, et al. Among authors: zambrowicz b. Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237. Hum Mol Genet. 2021. PMID: 33105479 Free PMC article.
92 results