Page 913 - Williams Hematology ( PDFDrive )
P. 913
888 Part VI: The Erythrocyte <CN>: <CT> PB
210. Prchal JT, Guan YL, Prchal JF, et al: Transcriptional analysis of the active X-chromosome 222. Watowich SS, Xie X, Klingmuller U, et al: Erythropoietin receptor mutations associated
in normal and clonal hematopoiesis. Blood 81(1):269, 1993. with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozy-
211. Prchal JT, Prchal JF, Belickova M, et al: Clonal stability of blood cell lineages indicated gous state. Blood 94(7):2530, 1999.
by X-chromosomal transcriptional polymorphism. J Exp Med 183(2):561, 1996. 223. de la Chapelle A, Traskelin AL and Juvonen E: Truncated erythropoietin receptor
212. Busque L, Mio R, Mattioli J, et al: Nonrandom X-inactivation patterns in normal causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A
females: Lyonization ratios vary with age. Blood 88(1):59, 1996. 90(10):4495, 1993.
213. Champion KM, Gilbert JG, Asimakopoulos FA, et al: Clonal haemopoiesis in normal 224. Furukawa T, Narita M, Sakaue M, et al: Primary familial polycythaemia associated
elderly women: Implications for the myeloproliferative disorders and myelodysplastic with a novel point mutation in the erythropoietin receptor. Br J Haematol 99(1):222,
syndromes. Br J Haematol 97(4):920, 1997. 1997.
214. Gale RE, Fielding AK, Harrison CN, et al: Acquired skewing of X-chromosome inacti- 225. Arcasoy MO, Harris KW, Forget BG: A human erythropoietin receptor gene mutant
vation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age. Br causing familial erythrocytosis is associated with deregulation of the rates of Jak2 and
J Haematol 98(3):512, 1997. Stat5 inactivation. Exp Hematol 27(1):63, 1999.
215. Swierczek SI, Agarwal N, Nussenzveig RH, et al: Hematopoiesis is not clonal in healthy 226. Kralovics R, Prchal JT: Genetic heterogeneity of primary familial and congenital poly-
elderly women. Blood 112(8):3186, 2008. cythemia. Am J Hematol 68(2):115, 2001.
216. Swierczek SI, Piterkova L, Jelinek J, et al: Methylation of AR locus does not always 227. Sokol L, Luhovy M, Guan Y, et al: Primary familial polycythemia: A frameshift muta-
reflect X chromosome inactivation state. Blood 119(13):e100, 2012. tion in the erythropoietin receptor gene and increased sensitivity of erythroid progeni-
217. Kralovics R, Stockton DW, Prchal JT: Clonal hematopoiesis in familial polycythemia tors to erythropoietin. Blood 86(1):15, 1995.
vera suggests the involvement of multiple mutational events in the early pathogenesis 228. Kralovics R, Sokol L, Broxson EH Jr, et al: The erythropoietin receptor gene is not
of the disease. Blood 102(10):3793, 2003. linked with the polycythemia phenotype in a family with autosomal dominant primary
218. Lertzman M, Frome BM, Israels LG, et al: Hypoxia in polycythemia vera. Ann Intern polycythemia. Proc Assoc Am Physicians 109(6):580, 1997.
Med 60:409, 1964. 229. Sokol L, Prchal JF, D’Andrea A, et al: Mutation in the negative regulatory element of the
219. Plata R, Cornejo A, Arratia C, et al: Angiotensin-converting-enzyme inhibition therapy erythropoietin receptor gene in a case of sporadic primary polycythemia. Exp Hematol
in altitude polycythaemia: A prospective randomised trial. Lancet 359(9307):663, 2002. 22(5):447, 1994.
220. Manglani MV, DeGroff CG, Dukes PP, et al: Congenital erythrocytosis with ele- 230. Le Couedic JP, Mitjavila MT, Villeval JL, et al: Missense mutation of the erythropoietin
vated erythropoietin level: An incorrectly set “erythrostat”? J Pediatr Hematol Oncol receptor is a rare event in human erythroid malignancies. Blood 87(4):1502, 1996.
20(6):560, 1998. 231. Hultberg B, Sjoblad S and Ockerman PA: Properties of five acid hydrolases in human
221. Piccirillo G, Fimognari FL, Valdivia JL, et al: Effects of phlebotomy on a patient with skin fibroblast cultures. Possible use in the diagnosis of inborn lysosomal diseases. Acta
secondary polycythemia and angina pectoris. Int J Cardiol 44(2):175, 1994. Paediatr Scand 62(5):474, 1973.
Kaushansky_chapter 57_p0871-0888.indd 888 9/18/15 9:37 AM

