Page 2172 - Williams Hematology ( PDFDrive )

2146 Part XII: Hemostasis and Thrombosis Chapter 124: Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII 2147

98. Vos HL: Inherited defects of coagulation Factor V: The thrombotic side. J Thromb Haemost 130. Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah AA, et al: Haemorrhagic symptoms
4:35, 2006. in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemo-
99. Blavignac J, Bunimov N, Rivard GE, Hayward CP: Quebec platelet disorder: Update on philia 10:271, 2004.
pathogenesis, diagnosis, and treatment. Semin Thromb Hemost 37:713, 2011. 131. Seligsohn U: Combined factor V and factor VIII deficiency, in Factor VIII: Von Wille-
100. Weiss HJ, Lages B, Zheng S, Hayward CP: Platelet factor V New York: A defect in factor brand Factor, vol 2, edited by J Seghatchian, GT Savidge, p 89. CRC Press, Boca Raton,
V distinct from that in factor V Quebec resulting in impaired prothrombinase genera- FL, 1989.
tion. Am J Hematol 66:130, 2001. 132. Fischer RR, Giddings JC, Roisenberg I: Hereditary combined deficiency of clotting fac-
101. Acharya SS, Coughlin A, Dimichele DM: Rare Bleeding Disorder Registry: Deficien- tors V and VIII with involvement of von Willebrand factor. Clin Lab Haematol 10:53,
cies of factors II V, VII X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 1988.
2:248, 2004. 133. Zhang B, Zheng C, Zhu M, et al: Mice deficient in LMAN1 exhibit FV and FVIII defi-
102. Peyvandi F, Duga S, Akhavan S, Mannucci PM: Rare coagulation deficiencies. Haemo- ciencies and liver accumulation of α -antitrypsin. Blood 118:3384, 2011.
1
philia 8:308, 2002. 134. Sallah AS, Angchaisuksiri P, Roberts HR: Use of plasma exchange in hereditary defi-
103. Asselta R, Tenchini ML, Duga S: Inherited defects of coagulation factor V: The hemor- ciency of factor V and factor VIII. Am J Hematol 52:229, 1996.
rhagic side. J Thromb Haemost 4:26, 2006. 135. Alexander B, Goldstein R, Landwehr G, Cook CD: Congenital SPCA deficiency: A
104. Girolami A, Scandellari R, Lombardi AM, et al: Pregnancy and oral contraceptives in hitherto unrecognized coagulation defect with hemorrhage rectified by serum and
factor V deficiency: A study of 22, patients (five homozygotes and 17 heterozygotes) serum fractions. J Clin Invest 30:596, 1951.
and review of the literature. Haemophilia 11:26, 2005. 136. Hagen FS, Gray CL, O’Hara P, et al: Characterization of a cDNA coding for human
105. Noia G, De Carolis S, De Stefano V, et al: Factor V deficiency in pregnancy complicated factor VII. Proc Natl Acad Sci U S A 83:2412, 1986.
by Rh immunization and placenta previa. A case report and review of the literature. 137. Fair DS: Quantitation of factor VII in the plasma of normal and warfarin-treated indi-
Acta Obstet Gynecol Scand 76:890, 1997. viduals by radioimmunoassay. Blood 62:784, 1983.
106. Girolami A, Ruzzon E, Tezza F: Arterial and venous thrombosis in rare congenital 138. Radcliffe R, Nemerson Y: Activation and control of factor VII by activated factor X
bleeding disorders: A critical review. Haemophilia 12:345, 2006. and thrombin: Isolation and characterization of a single chain form of factor VII. J Biol
107. Fratantoni JC, Hilgartner M, Nachman RL: Nature of the defect in congenital factor V Chem 250:388, 1975.
deficiency: Study in a patient with an acquired circulating anticoagulant. Blood 39:751, 139. Seligsohn U, Osterud B, Brown SF, et al: Activation of human factor VII in plasma and
1972. in purified systems: Roles of activated factor IX, kallikrein, and activated factor XII.
108. Mazzucconi MG, Solinas S, Chistolini A, et al: Inhibitor to factor V in severe factor V J Clin Invest 64:1056, 1979.
congenital deficiency: A case report. Nouv Rev Fr Hematol 27:303, 1985. 140. Radcliffe R, Bagdasarian A, Colman R, Nemerson Y: Activation of bovine factor VII by
109. Cui J, O’Shea KS, Purkayastha A, et al: Fatal haemorrhage and incomplete block to Hageman factor fragments. Blood 50:611, 1977.
embryogenesis in mice lacking coagulation factor V. Nature 384:66, 1996. 141. Nakagaki T, Foster DC, Berkner KL, Kisiel W: Initiation of the extrinsic pathway of
110. Yang TL, Cui J, Taylor JM, et al: Rescue of fatal neonatal hemorrhage in factor V blood coagulation: Evidence for the tissue factor dependent autoactivation of human
deficient mice by low transgene expression. Thromb Haemost 83:70, 2000. coagulation factor VII. Biochemistry 30:10819, 1991.
111. Oeri J, Matter M, Isenschmid H, et al: Congenital factor V deficiency (parahemophilia) 142. Rapaport SI, Rao LV: The tissue factor pathway: How it has become a “prima ballerina.”
with true hemophilia in two brothers. Bibl Paediatr 58:575, 1954. Thromb Haemost 74:7, 1995.
112. Nichols WC, Seligsohn U, Zivelin A, et al: Linkage of combined factors V and VIII 143. Banner DW, D’Arcy A, Chene C, et al: The crystal structure of the complex of blood
deficiency to chromosome 18q by homozygosity mapping. J Clin Invest 99:596, coagulation factor VIIa with soluble tissue factor. Nature 380:41, 1996.
1997. 144. Cooper DN, Millar DS, Wacey A, et al: Inherited factor VII deficiency: Molecular
113. Nichols WC, Seligsohn U, Zivelin A, et al: Mutations in the ER–Golgi intermediate genetics and pathophysiology. Thromb Haemost 78:151, 1997.
compartment protein ERGIC-53 cause combined deficiency of coagulation factors V 145. Edgington TS, Dickinson CD, Ruf W: The structural basis of function of the TF-VIIa
and VIII. Cell 93:61, 1998. complex in the cellular initiation of coagulation. Thromb Haemost 78:401, 1997.
114. Zhang B, Kaufman RJ, Ginsburg D: LMAN1 and MCFD2 form a cargo receptor com- 146. Morrissey JH, Neuenschwander PF, Huang Q, et al: Factor VIIa–tissue factor: Func-
plex and interact with coagulation factor VIII in the early secretory pathway. J Biol tional importance of protein-membrane interactions. Thromb Haemost 78:112, 1997.
Chem 280:25881, 2005. 147. Kirchhofer D, Nemerson Y: Initiation of blood coagulation: The tissue factor/factor
115. Zhang B, McGee B, Yamaoka JS, et al: Combined deficiency of factor V and factor VIII VIIa complex. Curr Opin Biotechnol 7:386, 1996.
is due to mutations in either LMAN1 or MCFD2. Blood 107:903, 2006. 148. Mann KG, van’t Veer C, Cawthern K, et al: The role of the tissue factor pathway in
116. Seligsohn U, Zivelin A, Zwang E: Combined factor V and factor VIII deficiency among initiation of coagulation. Blood Coagul Fibrinolysis 9:S3, 1998.
non-Ashkenazi Jews. N Engl J Med 307:1191, 1982. 149. Hoffman M, Monroe DM, Roberts HR: Cellular interactions in hemostasis. Haemostasis
117. Peyvandi F, Tuddenham EG, Akhtari AM, et al: Bleeding symptoms in 27 Iranian 1:12, 1996.
patients with the combined deficiency of factor V and factor VIII. Br J Haematol 150. O’Hara PJ, Grant FJ, Haldeman BA, et al: Nucleotide sequence of the gene coding for
100:773, 1998. human factor VII, a vitamin K-dependent protein participating in blood coagulation.
118. Itin C, Roche AC, Monsigny M, et al: ERGIC-53 is a functional mannose-selective Proc Natl Acad Sci U S A 84:5158, 1987.
and calcium-dependent human homologue of leguminous lectins. J Cell Biol 107:483, 151. Ott R, Pfeiffer RA: Evidence that activities of coagulation factors VII and X are linked
1996. to chromosome 13, (q34). Hum Hered 34:123, 1984.
119. Guy JE, Wigren E, Svärd M, et al: New insights into multiple coagulation factor defi- 152. Miao CH, Leytus SP, Chung DW, Davie EW: Liver-specific expression of the gene cod-
ciency from the solution structure of human MCFD2. J Mol Biol 381:941, 2008. ing for human factor X, a blood coagulation factor. J Biol Chem 267:7395, 1992.
120. Appenzeller C, Andersson H, Kappeler F, et al: The lectin ERGIC-53 is a cargo transport 153. Greenberg D, Miao CH, Ho WT, et al: Liver-specific expression of the human factor VII
receptor for glycoproteins. Nat Cell Biol 1:330, 1999. gene. Proc Natl Acad Sci U S A 92:12347, 1995.
121. Vollenweider F, Kappeler F, Itin C, et al: Mistargeting of the lectin ERGIC-53 to the 154. Pollak ES, Hung HL, Godin W, et al: Functional characterization of the human factor
endoplasmic reticulum of HeLa cells impairs the secretion of a lysosomal enzyme. J Cell VII 5′-flanking region. J Biol Chem 271:1738, 1996.
Biol 142:377, 1998. 155. Herrmann FH, Wulff K, Auerswald G, et al: Factor VII deficiency: Clinical manifes-
122. Nyfeler B, Reiterer V, Wendeler MW, et al: Identification of ERGIC-53 as an intracellu- tation of 717, subjects from Europe and Latin America with mutations in the factor 7,
lar transport receptor of alpha1-antitrypsin. J Cell Biol 180:705, 2008. gene. Haemophilia 15:267, 2008.
123. Morais VA, Brito C, Pijak DS, et al: N-glycosylation of human nicastrin is required 156. Tamary H, Fromovich Y, Shalmon L, et al: Ala244Val is a common, probably ancient
for interaction with the lectins from the secretory pathway calnexin and ERGIC-53. mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb Haemost
Biochim Biophys Acta 1762:802, 2006. 76:283, 1996.
124. Nyfeler B, Zhang B, Ginsburg D, et al: Cargo selectivity of the ERGIC-53/MCFD2 157. Fromovich-Amit Y, Zivelin A, Rosenberg N, et al: Characterization of mutations caus-
transport receptor complex. Traffic 7:1473, 2006. ing factor VII deficiency in 61, unrelated Israeli patients. J Thromb Haemost 2:1774,
125. Nishio M, Kamiya Y, Mizushima T, et al: Structural basis for the cooperative interplay 2004.
between the two causative gene products of combined factor V and factor VIII defi- 158. Wulff K, Herrmann FH: Twenty-two novel mutations of the factor VII gene in factor
ciency. Proc Natl Acad Sci U S A 107:4034, 2010. VII deficiency. Hum Mutat 15:489, 2000.
126. Neerman-Arbez M, Antonarakis SE, Blouin JL, et al: The locus for combined factor 159. Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, et al: Analysis of the geno-
V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849, and D18S1103. types and phenotypes of 37, unrelated patients with inherited factor VII deficiency. Eur
Am J Hum Genet 61:143, 1997. J Hum Genet 9:105, 2001.
127. Zhang B, Spreafico M, Zheng C, et al: Genotype-phenotype correlation in combined 160. Chaing S, Clarke B, Sridhara S, et al: Severe factor VII deficiency caused by mutations
deficiency of factor V and factor VIII. Blood 111:5592, 2008. abolishing the cleavage site for activation and altering binding to tissue factor. Blood
128. Segal A, Zivelin A, Rosenberg N, et al: A mutation in LMAN 1, (ERGIC-53) causing 83:3524, 1994.
combined factor V and factor VIII deficiency is prevalent in Jews originating from the 161. Bernardi F, Patracchini P, Gemmati D, et al: Molecular analysis of factor VII deficiency
island of Djerba in Tunisia. Blood Coagul Fibrinolysis 15:99, 2004. in Italy: A frequent mutation (FVII Lazio) in a repeated intronic region. Hum Genet
129. Viswabandya A, Baidya S, Nair SC, et al: Clinical manifestations of combined factor V 92:446, 1993.
and VIII deficiency: A series of 37 cases from a single center in India. Am J Hematol 162. Etro D, Pinotti M, Wulff K, et al: The Gly331Ser mutation in factor VII in Europe and
85:538, 2010. the Middle East. Haematologica 88:1434, 2003.

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