Page 2093 - Williams Hematology ( PDFDrive )

2068 Part XII: Hemostasis and Thrombosis Chapter 120: Hereditary Qualitative Platelet Disorders 2069

318. Curtis BR, Aster RH: Incidence of the Nak(a)-negative platelet phenotype in African 351. Sugiyama T, Okuma M, Ushikubi F, et al: A novel platelet aggregating factor found in a
Americans is similar to that of Asians. Transfusion 36:331–334, 1996. patient with defective collagen-induced platelet aggregation and autoimmune throm-
319. Zhu W, Li W, Silverstein RL: Advanced glycation end products induce a prothrombotic bocytopenia. Blood 69:1712–1720, 1987.
phenotype in mice via interaction with platelet CD36. Blood 119:6136–6144, 2012. 352. Takahashi H, Moroi M: Antibody against platelet membrane glycoprotein VI in a
320. Asch AS, Barnwell J, Silverstein RL, Nachman RL: Isolation of the thrombospondin patient with systemic lupus erythematosus. Am J Hematol 67:262–267, 2001.
membrane receptor. J Clin Invest 79:1054–1061, 1987. 353. Boylan B, Chen H, Rathore V, et al: Anti-GPVI-associated ITP: An acquired platelet
321. Tandon NN, Kralisz U, Jamieson GA: Identification of glycoprotein IV (CD36) as a disorder caused by autoantibody-mediated clearance of the GPVI/FcRγ-chain complex
primary receptor for platelet-collagen adhesion. J Biol Chem 264:7576–7583, 1989. from the human platelet surface. Blood 104:1350–1355, 2004.
322. Wang Y, Fang C, Gao H, et al: Platelet-derived S100 family member myeloid-related 354. Akiyama M, Kashiwagi H, Todo K, et al: Presence of platelet-associated anti-GPVI
protein-14 regulates thrombosis. J Clin Invest 124:2160–2171, 2014. autoantibodies and restoration of GPVI expression in patients with GPVI deficiency.
323. Matsuno K, Diaz-Ricart M, Montgomery RR, et al: Inhibition of platelet adhesion to J Thromb Haemost 2009.
collagen by monoclonal anti-CD36 antibodies. Br J Haematol 92:960–967, 1996. 355. Nieswandt B, Schulte V, Bergmeier W, et al: Long-term antithrombotic protection by in
324. Silverstein RL, Asch AS, Nachman RL: Glycoprotein IV mediates thrombospondin- vivo depletion of platelet glycoprotein VI in mice. J Exp Med 193:459–469, 2001.
dependent platelet-monocyte and platelet-U937 cell adhesion. J Clin Invest 84:546–552, 356. Dumont B, Lasne D, Rothschild C, et al: Absence of collagen-induced platelet activation
1989. caused by compound heterozygous GPVI mutations. Blood 114:1900–1903, 2009.
325. Kehrel B, Kronenberg A, Schwippert B, et al: Thrombospondin binds normally to gly- 357. Matus V, Valenzuela G, Saez CG, et al: An adenine insertion in exon 6 of human GP6
coprotein IIIb deficient platelets. Biochem Biophys Res Commun 179:985–991, 1991. generates a truncated protein associated with a bleeding disorder in four Chilean fami-
326. Tandon NN, Ockenhouse CF, Greco NJ, Jamieson GA: Adhesive functions of platelets lies. J Thromb Haemost 11:1751–1759, 2013.
lacking glycoprotein IV (CD36). Blood 78:2809–2813, 1991. 358. Weiss HJ, Chervenick PA, Zalusky R, Factor A: A familial defect in platelet func-
327. Saelman EU, Kehrel B, Hese KM, et al: Platelet adhesion to collagen and endothelial tion associated with impaired release of adenosine diphosphate. N Engl J Med 281:
cell matrix under flow conditions is not dependent on platelet glycoprotein IV. Blood 1264–1270, 1969.
83:3240–3244, 1994. 359. Holmsen H, Weiss HJ: Hereditary defect in the platelet release reaction caused by
328. Kuijpers MJ, de Witt S, Nergiz-Unal R, et al: Supporting roles of platelet thrombospondin-1 a deficiency in the storage pool of platelet adenine nucleotides. Br J Haematol 19:
and CD36 in thrombus formation on collagen. Arterioscler Thromb Vasc Biol 34: 643–649, 1970.
1187–1192, 2014. 360. Holmsen H: Secretable storage pools in platelets. Annu Rev Med 30:119–134, 1979.
329. Englyst NA, Taube JM, Aitman TJ, et al: A novel role for CD36 in VLDL-enhanced 361. Huizing M, Helip-Wooley A, Westbroek W, et al: Disorders of lysosome-related organ-
platelet activation. Diabetes 52:1248–1255, 2003. elle biogenesis: Clinical and molecular genetics. Annu Rev Genomics Hum Genet 9:
330. Ghosh A, Murugesan G, Chen K, et al: Platelet CD36 surface expression levels affect 359–386, 2008.
functional responses to oxidized LDL and are associated with inheritance of specific 362. Hermansky F, Pudlak P: Albinism associated with hemorrhagic diathesis and unusual
genetic polymorphisms. Blood 117:6355–6366, 2011. pigmented reticular cells in the bone marrow: Report of two cases with histochemical
331. Kashiwagi H, Tomiyama Y, Honda S, et al: Molecular basis of CD36 deficiency. Evi- studies. Blood 14:162, 1959.
dence that a 478C—>T substitution (proline90—>serine) in CD36 cDNA accounts for 363. Gahl WA, Brantly M, Kaiser-Kupfer MI, et al: Genetic defects and clinical character-
CD36 deficiency. J Clin Invest 95:1040–1046, 1995. istics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syn-
332. Hirano K, Kuwasako T, Nakagawa-Toyama Y, et al: Pathophysiology of human genetic drome). N Engl J Med 338:1258–1264, 1998.
CD36 deficiency. Trends Cardiovasc Med 13:136–141, 2003. 364. Wei ML: Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle
333. Febbraio M, Silverstein RL: CD36: Implications in cardiovascular disease. Int J Biochem function. Pigment Cell Res 19:19–42, 2006.
Cell Biol 39:2012–2030, 2007. 365. Gunay-Aygun M, Huizing M, Gahl WA: Molecular defects that affect platelet dense
334. Kashiwagi H, Tomiyama Y, Kosugi S, et al: Family studies of type II CD36 deficient sub- granules. Semin Thromb Hemost 30:537–547, 2004.
jects: Linkage of a CD36 allele to a platelet-specific mRNA expression defect(s) causing 366. Shiflett SL, Kaplan J, Ward DM: Chédiak-Higashi syndrome: A rare disorder of lys-
type II CD36 deficiency. Thromb Haemost 74:758–763, 1995. osomes and lysosome related organelles. Pigment Cell Res 15:251–257, 2002.
335. Ikeda H: Platelet membrane protein CD36. Hokkaido Igaku Zasshi 74:99–104, 1999. 367. Grottum KA, Hovig T, Holmsen H, et al: Wiskott-Aldrich syndrome: Qualitative plate-
336. Kashiwagi H, Tomiyama Y, Kosugi S, et al: Identification of molecular defects in a sub- let defects and short platelet survival. Br J Haematol 17:373–388, 1969.
ject with type I CD36 deficiency. Blood 83:3545–3552, 1994. 368. Stormorken H, Hellum B, Egeland T, et al: X-linked thrombocytopenia and throm-
337. Kashiwagi H, Tomiyama Y, Nozaki S, et al: A single nucleotide insertion in codon 317 of the bocytopathia: Attenuated Wiskott- Aldrich syndrome. Functional and morphological
CD36 gene leads to CD36 deficiency. Arterioscler Thromb Vasc Biol 16:1026–1032, 1996. studies of platelets and lymphocytes. Thromb Haemost 65:300–305, 1991.
338. Hanawa H, Watanabe K, Nakamura T, et al: Identification of cryptic splice site, exon 369. Onel D, Ulutin SB, Ulutin ON: Platelet defect in a case of Ehlers-Danlos syndrome.
skipping, and novel point mutations in type I CD36 deficiency. J Med Genet 39: Acta Haematol 50:238–244, 1973.
286–291, 2002. 370. Hathaway WE, Solomons CC, Ott JE: Platelet function and pyrophosphates in osteo-
339. Bierling P, Godeau B, Fromont P, et al: Posttransfusion purpura-like syndrome associ- genesis imperfecta. Blood 39:500–509, 1972.
ated with CD36 (Naka) isoimmunization. Transfusion 35:777–782, 1995. 371. Day HJ, Holmsen H: Platelet adenine nucleotide “storage pool deficiency” in thrombo-
340. Morishita K, Wakamoto S, Miyazaki T, et al: Life-threatening adverse reaction cytopenia absent radii syndrome. JAMA 221:1053, 1972.
followed by thrombocytopenia after passive transfusion of fresh frozen plasma containing 372. Weiss HJ, Witte LD, Kaplan KL, et al: Heterogeneity in storage pool deficiency: Studies
anti-CD36 (Nak) isoantibody. Transfusion (Paris) 45:803–806, 2005. on granule-bound substances in 18 patients including variants deficient in alpha-
341. Moroi M, Jung SM, Okuma M, Shinmyozu K: A patient with platelets deficient in gly- granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor.
coprotein VI that lack both collagen-induced aggregation and adhesion. J Clin Invest Blood 54:1296–1319, 1979.
84:1440–1445, 1989. 373. Seward SL Jr, Gahl WA: Hermansky-Pudlak syndrome: Health care throughout life.
342. Ryo R, Yoshida A, Sugano W, et al: Deficiency of P62, a putative collagen receptor, Pediatrics 132:153–160, 2013.
in platelets from a patient with defective collagen-induced platelet aggregation. Am J 374. Bonifacino JS: Insights into the biogenesis of lysosome-related organelles from the
Hematol 39:25–31, 1992. study of the Hermansky-Pudlak syndrome. Ann N Y Acad Sci 1038:103–114, 2004.
343. Nurden P, Jandrot-Perrus M, Combrie R, et al: Severe deficiency of glycoprotein VI in 375. White JG: Inherited abnormalities of the platelet membrane and secretory granules.
a patient with gray platelet syndrome. Blood 104:107–114, 2004. Hum Pathol 18:123–139, 1987.
344. Arai M, Yamamoto N, Moroi M, et al: Platelets with 10% of the normal amount of 376. Nishibori M, Cham B, McNicol A, et al: The protein CD63 is in platelet dense granules,
glycoprotein VI have an impaired response to collagen that results in a mild bleeding is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to
tendency. Br J Haematol 89:124–130, 1995. granulophysin. J Clin Invest 91:1775–1782, 1993.
345. Arthur JF, Dunkley S, Andrews RK: Platelet glycoprotein VI-related clinical defects. Br 377. Huizing M, Boissy RE, Gahl WA: Hermansky-Pudlak syndrome: Vesicle formation
J Haematol 139:363–372, 2007. from yeast to man. Pigment Cell Res 15:405–419, 2002.
346. Chu XX, Hou M: [Advances in the studies of platelet glycoprotein VI (GPVI): Review] 378. Huizing M, Parkes JM, Helip-Wooley A, et al: Platelet alpha granules in BLOC-2 and
[in Chinese]. Zhongguo Shi Yan Xue Ye Xue Za Zhi 14:1040–1044, 2006. BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets 18:150–157, 2007.
347. Bellucci S, Huisse MG, Boval B, et al: Defective collagen-induced platelet activation in 379. Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA: Hermansky-Pudlak syndrome
two patients with malignant haemopathies is related to a defect in the GPVI-coupled type 1: Gene organization, novel mutations, and clinical-molecular review of non-
signalling pathway. Thromb Haemost 93:130–138, 2005. Puerto Rican cases. Hum Mutat 20:482, 2002.
348. Kojima H, Moroi M, Jung SM, et al: Characterization of a patient with glycoprotein 380. Carmona-Rivera C, Hess RA, O’Brien K, et al: Novel mutations in the HPS1 gene
(GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. among Puerto Rican patients. Clin Genet 79:561–567, 2011.
J Thromb Haemost 4:2433–2442, 2006. 381. Dell’Angelica EC, Shotelersuk V, Aguilar RC, et al: Altered trafficking of lysosomal pro-
349. Dunkley S, Arthur JF, Evans S, et al: A familial platelet function disorder associated teins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the
with abnormal signalling through the glycoprotein VI pathway. Br J Haematol 137: AP-3 adaptor. Mol Cell 3:11–21, 1999.
569–577, 2007. 382. Huizing M, Anikster Y, Fitzpatrick DL, et al: Hermansky-Pudlak syndrome type 3
350. Hermans C, Wittevrongel C, Thys C, et al: A compound heterozygous mutation in glyco- in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and
protein VI in a patient with a bleeding disorder. J Thromb Haemost 7:1356–1363, 2009. platelet storage-pool deficiency. Am J Hum Genet. 69:1022–1032, 2001.

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