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Page 1
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: harvey nl. 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.
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: harvey nl. 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: harvey nl. 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.
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: harvey nl. 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: harvey nl. Nature. 2023 Feb;614(7947):343-348. doi: 10.1038/s41586-022-05650-9. Epub 2023 Jan 25. Nature. 2023. PMID: 36697821
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: harvey nl. Science. 2023 Aug 18;381(6659):799-804. doi: 10.1126/science.adh8190. Epub 2023 Aug 17. Science. 2023. PMID: 37590348
A blood capillary plexus-derived population of progenitor cells contributes to genesis of the dermal lymphatic vasculature during embryonic development.
Pichol-Thievend C, Betterman KL, Liu X, Ma W, Skoczylas R, Lesieur E, Bos FL, Schulte D, Schulte-Merker S, Hogan BM, Oliver G, Harvey NL, Francois M. Pichol-Thievend C, et al. Among authors: harvey nl. Development. 2018 May 17;145(10):dev160184. doi: 10.1242/dev.160184. Development. 2018. PMID: 29773646 Free PMC article.
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development.
Kartopawiro J, Bower NI, Karnezis T, Kazenwadel J, Betterman KL, Lesieur E, Koltowska K, Astin J, Crosier P, Vermeren S, Achen MG, Stacker SA, Smith KA, Harvey NL, François M, Hogan BM. Kartopawiro J, et al. Among authors: harvey nl. Hum Mol Genet. 2014 Mar 1;23(5):1286-97. doi: 10.1093/hmg/ddt518. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163130
91 results