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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Among authors: rajamani s. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 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: rajamani s. Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237. Hum Mol Genet. 2021. PMID: 33105479 Free PMC article.
The Expansion of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva Is Activin A-Dependent.
Upadhyay J, Xie L, Huang L, Das N, Stewart RC, Lyon MC, Palmer K, Rajamani S, Graul C, Lobo M, Wellman TJ, Soares EJ, Silva MD, Hesterman J, Wang L, Wen X, Qian X, Nannuru K, Idone V, Murphy AJ, Economides AN, Hatsell SJ. Upadhyay J, et al. Among authors: rajamani s. J Bone Miner Res. 2017 Dec;32(12):2489-2499. doi: 10.1002/jbmr.3235. Epub 2017 Sep 22. J Bone Miner Res. 2017. PMID: 28782882 Free article.
The potassium channel Kcne3 is a VEGFA-inducible gene selectively expressed by vascular endothelial tip cells.
Deckelbaum RA, Lobov IB, Cheung E, Halasz G, Rajamani S, Lerner J, Tong C, Li Z, Boland P, Dominguez M, Hughes V, Yancopoulos GD, Murphy AJ, Thurston G, Cao J, Romano C, Gale NW. Deckelbaum RA, et al. Among authors: rajamani s. Angiogenesis. 2020 May;23(2):179-192. doi: 10.1007/s10456-019-09696-8. Epub 2019 Nov 21. Angiogenesis. 2020. PMID: 31754927 Free PMC article.
mproving the in vivo QTc assay: Nonclinical concentration-QTc modeling for risk assessment.
Wisialowski TA, Ether N, Foley CM, Kleiman R, Koshman Y, Leishman D, Martel E, Nichols JV, Popp J, Rajamani S, Riley S, Rossman EI, Vargas HM. Wisialowski TA, et al. Among authors: rajamani s. J Pharmacol Toxicol Methods. 2024 May 20:107515. doi: 10.1016/j.vascn.2024.107515. Online ahead of print. J Pharmacol Toxicol Methods. 2024. PMID: 38777240 No abstract available.
224 results