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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Duval R, et al. Among authors: kinoshita t. Blood. 2021 Jul 1;137(26):3660-3669. doi: 10.1182/blood.2020009810. Blood. 2021. PMID: 33763700 Free article.
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A. Almeida AM, et al. Among authors: kinoshita t. Nat Med. 2006 Jul;12(7):846-51. doi: 10.1038/nm1410. Epub 2006 Jun 11. Nat Med. 2006. PMID: 16767100
Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH).
Inoue N, Izui-Sarumaru T, Murakami Y, Endo Y, Nishimura J, Kurokawa K, Kuwayama M, Shime H, Machii T, Kanakura Y, Meyers G, Wittwer C, Chen Z, Babcock W, Frei-Lahr D, Parker CJ, Kinoshita T. Inoue N, et al. Among authors: kinoshita t. Blood. 2006 Dec 15;108(13):4232-6. doi: 10.1182/blood-2006-05-025148. Epub 2006 Aug 29. Blood. 2006. PMID: 16940417 Free PMC article.
3,551 results