Mechanisms of the interaction between twoADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
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| Published in | Human mutation Vol. 27; no. 4; pp. 330 - 336 |
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| Main Authors | , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
01.04.2006
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| Online Access | Get full text |
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| Author | Palla, Roberta De Cristofaro, Raimondo Lavoretano, Silvia Valsecchi, Carla Rossi, Edoardo Mannuccio Mannucci, Pier Peyvandi, Flora Merati, Giuliana |
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| Author_xml | – sequence: 1 givenname: Flora surname: Peyvandi fullname: Peyvandi, Flora – sequence: 2 givenname: Silvia surname: Lavoretano fullname: Lavoretano, Silvia – sequence: 3 givenname: Roberta surname: Palla fullname: Palla, Roberta – sequence: 4 givenname: Carla surname: Valsecchi fullname: Valsecchi, Carla – sequence: 5 givenname: Giuliana surname: Merati fullname: Merati, Giuliana – sequence: 6 givenname: Raimondo surname: De Cristofaro fullname: De Cristofaro, Raimondo – sequence: 7 givenname: Edoardo surname: Rossi fullname: Rossi, Edoardo – sequence: 8 givenname: Pier surname: Mannuccio Mannucci fullname: Mannuccio Mannucci, Pier |
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| Cites_doi | 10.1074/jbc.M502529200 10.1111/j.1538-7933.2004.00623.x 10.1055/s-0037-1614780 10.1182/blood-2004-06-2096 10.1111/j.1523-1755.2004.00841.x 10.1182/blood-2004-02-0715 10.1056/NEJM199811263392202 10.1681/ASN.2005010086 10.1046/j.1365-2141.2000.02503.x 10.1160/TH03-03-0150 10.1074/jbc.M314184200 10.1056/NEJMra020528 10.1111/j.1365-2141.2004.05217.x 10.1073/pnas.172277399 10.1016/0049-3848(90)90181-B 10.1182/blood.V104.11.514.514 10.1128/MCB.7.11.4125 10.1182/blood-2003-04-1346 10.1053/j.seminhematol.2003.10.002 10.1016/S0092-8674(85)80025-8 10.1128/MCB.20.21.8059-8068.2000 10.1046/j.1523-1755.63.6s.1.x 10.1074/jbc.C100515200 10.1182/blood.V57.6.1140.1140 10.1002/elps.200305392 10.1038/35097008 10.1182/blood.V87.10.4223.bloodjournal87104223 |
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| References | Bernardo (10.1002/humu.20267-BIB4) 2003; 1 Motto (10.1002/humu.20267-BIB17) 2003; 1 Moake (10.1002/humu.20267-BIB16) 2002; 347 Boshart (10.1002/humu.20267-BIB6) 1985; 41 Licht (10.1002/humu.20267-BIB14) 2004; 66 Kokame (10.1002/humu.20267-BIB11) 2002; 99 Peyvandi (10.1002/humu.20267-BIB21) 2004b; 104 Furlan (10.1002/humu.20267-BIB9) 1998; 339 Cheng (10.1002/humu.20267-BIB7) 2000; 20 Gerritsen (10.1002/humu.20267-BIB10) 1999; 82 Banno (10.1002/humu.20267-BIB3) 2004; 279 Furlan (10.1002/humu.20267-BIB8) 1996; 87 Uchida (10.1002/humu.20267-BIB26) 2004; 104 Majerus (10.1002/humu.20267-BIB15) 2005; 280 Raines (10.1002/humu.20267-BIB23) 1990; 60 Noris (10.1002/humu.20267-BIB19) 2005; 16 Studt (10.1002/humu.20267-BIB25) 2005; 105 Bestetti (10.1002/humu.20267-BIB5) 2003; 90 Zheng (10.1002/humu.20267-BIB29) 2001; 276 Kokame (10.1002/humu.20267-BIB12) 2004; 41 Peyvandi (10.1002/humu.20267-BIB20) 2004a; 127 Pimanda (10.1002/humu.20267-BIB22) 2004; 103 Veyradier (10.1002/humu.20267-BIB27) 2004; 2 Warren (10.1002/humu.20267-BIB28) 2003; 24 Allford (10.1002/humu.20267-BIB1) 2000; 111 Levy (10.1002/humu.20267-BIB13) 2001; 413 Nelson (10.1002/humu.20267-BIB18) 1987; 7 Assink (10.1002/humu.20267-BIB2) 2003; 63 Ruggeri (10.1002/humu.20267-BIB24) 1981; 57 |
| References_xml | – volume: 280 start-page: 21773 year: 2005 ident: 10.1002/humu.20267-BIB15 publication-title: J Biol Chem doi: 10.1074/jbc.M502529200 contributor: fullname: Majerus – volume: 2 start-page: 424 year: 2004 ident: 10.1002/humu.20267-BIB27 publication-title: J Thromb Haemost doi: 10.1111/j.1538-7933.2004.00623.x contributor: fullname: Veyradier – volume: 1 start-page: 405a year: 2003 ident: 10.1002/humu.20267-BIB4 publication-title: J Thromb Haemost contributor: fullname: Bernardo – volume: 82 start-page: 1386 year: 1999 ident: 10.1002/humu.20267-BIB10 publication-title: Thromb Haemost doi: 10.1055/s-0037-1614780 contributor: fullname: Gerritsen – volume: 105 start-page: 542 year: 2005 ident: 10.1002/humu.20267-BIB25 publication-title: Blood doi: 10.1182/blood-2004-06-2096 contributor: fullname: Studt – volume: 66 start-page: 955 year: 2004 ident: 10.1002/humu.20267-BIB14 publication-title: Kidney Int doi: 10.1111/j.1523-1755.2004.00841.x contributor: fullname: Licht – volume: 104 start-page: 2081 year: 2004 ident: 10.1002/humu.20267-BIB26 publication-title: Blood doi: 10.1182/blood-2004-02-0715 contributor: fullname: Uchida – volume: 339 start-page: 1578 year: 1998 ident: 10.1002/humu.20267-BIB9 publication-title: N Engl J Med doi: 10.1056/NEJM199811263392202 contributor: fullname: Furlan – volume: 16 start-page: 1177 year: 2005 ident: 10.1002/humu.20267-BIB19 publication-title: J Am Soc Nephrol doi: 10.1681/ASN.2005010086 contributor: fullname: Noris – volume: 111 start-page: 1215 year: 2000 ident: 10.1002/humu.20267-BIB1 publication-title: Br J Haematol doi: 10.1046/j.1365-2141.2000.02503.x contributor: fullname: Allford – volume: 1 start-page: oc115 year: 2003 ident: 10.1002/humu.20267-BIB17 publication-title: J Thromb Haemost contributor: fullname: Motto – volume: 90 start-page: 955 year: 2003 ident: 10.1002/humu.20267-BIB5 publication-title: Thromb Haemost doi: 10.1160/TH03-03-0150 contributor: fullname: Bestetti – volume: 279 start-page: 30896 year: 2004 ident: 10.1002/humu.20267-BIB3 publication-title: J Biol Chem doi: 10.1074/jbc.M314184200 contributor: fullname: Banno – volume: 347 start-page: 589 year: 2002 ident: 10.1002/humu.20267-BIB16 publication-title: N Engl J Med doi: 10.1056/NEJMra020528 contributor: fullname: Moake – volume: 127 start-page: 433 year: 2004a ident: 10.1002/humu.20267-BIB20 publication-title: Br J Haematol doi: 10.1111/j.1365-2141.2004.05217.x contributor: fullname: Peyvandi – volume: 99 start-page: 11902 year: 2002 ident: 10.1002/humu.20267-BIB11 publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.172277399 contributor: fullname: Kokame – volume: 60 start-page: 201 year: 1990 ident: 10.1002/humu.20267-BIB23 publication-title: Thromb Res doi: 10.1016/0049-3848(90)90181-B contributor: fullname: Raines – volume: 104 start-page: oc514 year: 2004b ident: 10.1002/humu.20267-BIB21 publication-title: Blood doi: 10.1182/blood.V104.11.514.514 contributor: fullname: Peyvandi – volume: 7 start-page: 4125 year: 1987 ident: 10.1002/humu.20267-BIB18 publication-title: Mol Cell Biol doi: 10.1128/MCB.7.11.4125 contributor: fullname: Nelson – volume: 103 start-page: 627 year: 2004 ident: 10.1002/humu.20267-BIB22 publication-title: Blood doi: 10.1182/blood-2003-04-1346 contributor: fullname: Pimanda – volume: 41 start-page: 34 year: 2004 ident: 10.1002/humu.20267-BIB12 publication-title: Semin Hematol doi: 10.1053/j.seminhematol.2003.10.002 contributor: fullname: Kokame – volume: 41 start-page: 521 year: 1985 ident: 10.1002/humu.20267-BIB6 publication-title: Cell doi: 10.1016/S0092-8674(85)80025-8 contributor: fullname: Boshart – volume: 20 start-page: 8059 year: 2000 ident: 10.1002/humu.20267-BIB7 publication-title: Mol Cell Biol doi: 10.1128/MCB.20.21.8059-8068.2000 contributor: fullname: Cheng – volume: 63 start-page: 1995 year: 2003 ident: 10.1002/humu.20267-BIB2 publication-title: Kidney Int doi: 10.1046/j.1523-1755.63.6s.1.x contributor: fullname: Assink – volume: 276 start-page: 41059 year: 2001 ident: 10.1002/humu.20267-BIB29 publication-title: J Biol Chem doi: 10.1074/jbc.C100515200 contributor: fullname: Zheng – volume: 57 start-page: 1140 year: 1981 ident: 10.1002/humu.20267-BIB24 publication-title: Blood doi: 10.1182/blood.V57.6.1140.1140 contributor: fullname: Ruggeri – volume: 24 start-page: 1695 year: 2003 ident: 10.1002/humu.20267-BIB28 publication-title: Electrophoresis doi: 10.1002/elps.200305392 contributor: fullname: Warren – volume: 413 start-page: 488 year: 2001 ident: 10.1002/humu.20267-BIB13 publication-title: Nature doi: 10.1038/35097008 contributor: fullname: Levy – volume: 87 start-page: 4223 year: 1996 ident: 10.1002/humu.20267-BIB8 publication-title: Blood doi: 10.1182/blood.V87.10.4223.bloodjournal87104223 contributor: fullname: Furlan |
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| Title | Mechanisms of the interaction between twoADAMTS13 gene mutations leading to severe deficiency of enzymatic activity |
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