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Page 1
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Tan TY, et al. Among authors: dominguez mg. Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198724 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: dominguez mg. Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237. Hum Mol Genet. 2021. PMID: 33105479 Free PMC article.
Angiogenic sprouting into neural tissue requires Gpr124, an orphan G protein-coupled receptor.
Anderson KD, Pan L, Yang XM, Hughes VC, Walls JR, Dominguez MG, Simmons MV, Burfeind P, Xue Y, Wei Y, Macdonald LE, Thurston G, Daly C, Lin HC, Economides AN, Valenzuela DM, Murphy AJ, Yancopoulos GD, Gale NW. Anderson KD, et al. Among authors: dominguez mg. Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2807-12. doi: 10.1073/pnas.1019761108. Epub 2011 Jan 31. Proc Natl Acad Sci U S A. 2011. PMID: 21282641 Free PMC article.
Conditionals by inversion provide a universal method for the generation of conditional alleles.
Economides AN, Frendewey D, Yang P, Dominguez MG, Dore AT, Lobov IB, Persaud T, Rojas J, McClain J, Lengyel P, Droguett G, Chernomorsky R, Stevens S, Auerbach W, Dechiara TM, Pouyemirou W, Cruz JM Jr, Feeley K, Mellis IA, Yasenchack J, Hatsell SJ, Xie L, Latres E, Huang L, Zhang Y, Pefanis E, Skokos D, Deckelbaum RA, Croll SD, Davis S, Valenzuela DM, Gale NW, Murphy AJ, Yancopoulos GD. Economides AN, et al. Among authors: dominguez mg. Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):E3179-88. doi: 10.1073/pnas.1217812110. Epub 2013 Aug 5. Proc Natl Acad Sci U S A. 2013. PMID: 23918385 Free PMC article.
Vascular endothelial tyrosine phosphatase (VE-PTP)-null mice undergo vasculogenesis but die embryonically because of defects in angiogenesis.
Dominguez MG, Hughes VC, Pan L, Simmons M, Daly C, Anderson K, Noguera-Troise I, Murphy AJ, Valenzuela DM, Davis S, Thurston G, Yancopoulos GD, Gale NW. Dominguez MG, et al. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3243-8. doi: 10.1073/pnas.0611510104. Epub 2007 Feb 21. Proc Natl Acad Sci U S A. 2007. PMID: 17360632 Free PMC article.
Haploinsufficiency of delta-like 4 ligand results in embryonic lethality due to major defects in arterial and vascular development.
Gale NW, Dominguez MG, Noguera I, Pan L, Hughes V, Valenzuela DM, Murphy AJ, Adams NC, Lin HC, Holash J, Thurston G, Yancopoulos GD. Gale NW, et al. Among authors: dominguez mg. Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15949-54. doi: 10.1073/pnas.0407290101. Epub 2004 Nov 1. Proc Natl Acad Sci U S A. 2004. PMID: 15520367 Free PMC article.
High-throughput engineering of the mouse genome coupled with high-resolution expression analysis.
Valenzuela DM, Murphy AJ, Frendewey D, Gale NW, Economides AN, Auerbach W, Poueymirou WT, Adams NC, Rojas J, Yasenchak J, Chernomorsky R, Boucher M, Elsasser AL, Esau L, Zheng J, Griffiths JA, Wang X, Su H, Xue Y, Dominguez MG, Noguera I, Torres R, Macdonald LE, Stewart AF, DeChiara TM, Yancopoulos GD. Valenzuela DM, et al. Among authors: dominguez mg. Nat Biotechnol. 2003 Jun;21(6):652-9. doi: 10.1038/nbt822. Epub 2003 May 5. Nat Biotechnol. 2003. PMID: 12730667
76 results