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MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels.
Zhou Z, Ma X, Lin Y, Cheng D, Bavi N, Secker GA, Li JV, Janbandhu V, Sutton DL, Scott HS, Yao M, Harvey RP, Harvey NL, Corry B, Zhang Y, Cox CD. Zhou Z, et al. Among authors: scott hs. Science. 2023 Aug 18;381(6659):799-804. doi: 10.1126/science.adh8190. Epub 2023 Aug 17. Science. 2023. PMID: 37590348
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.
Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: scott hs. Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6. Blood. 2012. PMID: 22147895 Free PMC article.
GATA2 is required for lymphatic vessel valve development and maintenance.
Kazenwadel J, Betterman KL, Chong CE, Stokes PH, Lee YK, Secker GA, Agalarov Y, Demir CS, Lawrence DM, Sutton DL, Tabruyn SP, Miura N, Salminen M, Petrova TV, Matthews JM, Hahn CN, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: scott hs. J Clin Invest. 2015 Aug 3;125(8):2979-94. doi: 10.1172/JCI78888. Epub 2015 Jul 27. J Clin Invest. 2015. PMID: 26214525 Free PMC article.
GATA2 deficiency syndrome: A decade of discovery.
Homan CC, Venugopal P, Arts P, Shahrin NH, Feurstein S, Rawlings L, Lawrence DM, Andrews J, King-Smith SL, Harvey NL, Brown AL, Scott HS, Hahn CN. Homan CC, et al. Among authors: scott hs. Hum Mutat. 2021 Nov;42(11):1399-1421. doi: 10.1002/humu.24271. Epub 2021 Aug 31. Hum Mutat. 2021. PMID: 34387894 Free PMC article.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: scott hs. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature.
Kazenwadel J, Venugopal P, Oszmiana A, Toubia J, Arriola-Martinez L, Panara V, Piltz SG, Brown C, Ma W, Schreiber AW, Koltowska K, Taoudi S, Thomas PQ, Scott HS, Harvey NL. Kazenwadel J, et al. Among authors: scott hs. Nature. 2023 Feb;614(7947):343-348. doi: 10.1038/s41586-022-05650-9. Epub 2023 Jan 25. Nature. 2023. PMID: 36697821
Childhood acute myeloid leukemia shows a high level of germline predisposition.
Samaraweera SE, Wang PPS, Li KL, Casolari DA, Feng J, Pinese M, Maung KZY, Leo P, Cowley M, Perkins K, Smith AM, Ellis J, Wee A, Hiwase DK, Scott HS, Schreiber AW, Brown AL, Deans AJ, Ross DM, Moore AS, Gonda TJ, Hahn CN, D'Andrea RJ. Samaraweera SE, et al. Among authors: scott hs. Blood. 2021 Dec 2;138(22):2293-2298. doi: 10.1182/blood.2021012666. Blood. 2021. PMID: 34521114 Free article. No abstract available.
284 results