&ITTUBB1 &ITvariants and human platelet traits

被引：31

作者：

Burley, Kate ^{[1
]}

Westbury, Sarah K. ^{[1
]}

Mumford, Andrew D. ^{[2
]}

机构：

[1] Univ Bristol, Sch Clin Sci, Bristol, Avon, England

[2] Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England

来源：

PLATELETS | 2018年 / 29卷 / 02期

基金：

英国医学研究理事会;

关键词：

CONGENITAL MACROTHROMBOCYTOPENIA; PROPLATELET FORMATION; MICROTUBULE DYNAMICS; TUBULIN; THROMBOCYTOPENIA; POLYMORPHISM; MUTATION; BIOGENESIS; VARIANTS; ISOFORM;

D O I：

10.1080/09537104.2017.1411587

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

[No abstract available]

引用

页码：209 / 211

页数：3

共 20 条

[1] The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease [J].

Astle, William J. ;

Elding, Heather ;

Jiang, Tao ;

Allen, Dave ;

Ruklisa, Dace ;

Mann, Alice L. ;

Mead, Daniel ;

Bouman, Heleen ;

Riveros-Mckay, Fernando ;

Kostadima, Myrto A. ;

Lambourne, John J. ;

Sivapalaratnam, Suthesh ;

Downes, Kate ;

Kundu, Kousik ;

Bomba, Lorenzo ;

Berentsen, Kim ;

Bradley, John R. ;

Daugherty, Louise C. ;

Delaneau, Olivier ;

Freson, Kathleen ;

Garner, Stephen F. ;

Grassi, Luigi ;

Guerrero, Jose ;

Haimel, Matthias ;

Janssen-Megens, Eva M. ;

Kaan, Anita ;

Kamat, Mihir ;

Kim, Bowon ;

Mandoli, Amit ;

Marchini, Jonathan ;

Martens, Joost H. A. ;

Meacham, Stuart ;

Megy, Karyn ;

O'Connell, Jared ;

Petersen, Romina ;

Sharifi, Nilofar ;

Sheard, Simon M. ;

Staley, James R. ;

Tuna, Salih ;

van der Ent, Martijn ;

Walter, Klaudia ;

Wang, Shuang-Yin ;

Wheeler, Eleanor ;

Wilder, Steven P. ;

Iotchkova, Valentina ;

Moore, Carmel ;

Sambrook, Jennifer ;

Stunnenberg, Hendrik G. ;

Di Angelantonio, Emanuele ;

Kaptoge, Stephen .

CELL, 2016, 167 (05) :1415-+

[2] Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits [J].

Auer, Paul L. ;

Teumer, Alexander ;

Schick, Ursula ;

O'Shaughnessy, Andrew ;

Lo, Ken Sin ;

Chami, Nathalie ;

Carlson, Chris ;

de Denus, Simon ;

Dube, Marie-Pierre ;

Haessler, Jeff ;

Jackson, Rebecca D. ;

Kooperberg, Charles ;

Perreault, Louis-Philippe Lemieux ;

Nauck, Matthias ;

Peters, Ulrike ;

Rioux, John D. ;

Schmidt, Frank ;

Turcot, Valerie ;

Voelker, Uwe ;

Voelzke, Henry ;

Greinacher, Andreas ;

Hsu, Li ;

Tardif, Jean-Claude ;

Diaz, George A. ;

Reiner, Alexander P. ;

Lettre, Guillaume .

NATURE GENETICS, 2014, 46 (06) :629-634

[3] Platelet destruction in immune thrombocytopenia Understanding the mechanisms [J].

Bakchoul, Tamam ;

Sachs, Ulrich J. .

HAMOSTASEOLOGIE, 2016, 36 (03) :187-194

[4] β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia [J].

Basciano, P. A. ;

Matakas, J. ;

Pecci, A. ;

Civaschi, E. ;

Cagioni, C. ;

Bompiani, N. ;

Burger, P. ;

Christos, P. ;

Snyder, J. P. ;

Bussel, J. ;

Balduini, C. L. ;

Giannakakou, P. ;

Noris, P. .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 (04) :651-659

[5] The beta 1 tubulin R307H single nucleotide polymorphism is associated with treatment failures in immune thrombocytopenia (ITP) [J].

Basciano, Paul A. ;

Bussel, James ;

Hafeez, Zeeshan ;

Christos, Paul J. ;

Giannakakou, Paraskevi .

BRITISH JOURNAL OF HAEMATOLOGY, 2013, 160 (02) :237-243

[6] Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders [J].

Bastida, Jose M. ;

Lozano, Maria L. ;

Benito, Rocio ;

Janusz, Kamila ;

Palma-Barqueros, Veronica ;

Del Rey, Monica ;

Hernandez-Sanchez, Jesus M. ;

Riesco, Susana ;

Bermejo, Nuria ;

Gonzalez-Garcia, Hermenegildo ;

Rodriguez-Alen, Agustin ;

Aguilar, Carlos ;

Sevivas, Teresa ;

Lopez-Fernandez, Maria F. ;

Marneth, Anna E. ;

van der Reijden, Bert A. ;

Morgan, Neil V. ;

Watson, Steve P. ;

Vicente, Vicente ;

Hernandez-Rivas, Jesus M. ;

Rivera, Jose ;

Gonzalez-Porras, Jose R. .

HAEMATOLOGICA, 2018, 103 (01) :148-162

[7] Mutation in β1-tubulin correlates with macrothrombocytopenia in cavalier king charles spaniels [J].

Davis, B. ;

Toivio-Kinnucan, M. ;

Schuller, S. ;

Boudreaux, M. K. .

JOURNAL OF VETERINARY INTERNAL MEDICINE, 2008, 22 (03) :540-545

[8] Structural basis for the interaction of tubulin with proteins and drugs that affect microtubule dynamics [J].

Downing, KH .

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, 2000, 16 :89-111

[9] A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of 1-tubulin plays a role in microtubule assembly [J].

Fiore, M. ;

Goulas, C. ;

Pillois, X. .

CLINICAL GENETICS, 2017, 91 (06) :924-926

[10] The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure [J].

Freson, K ;

De Vos, R ;

Wittevrongel, C ;

Thys, C ;

Defoor, J ;

Vanhees, L ;

Vermylen, J ;

Peerlinck, K ;

Van Geet, C .

BLOOD, 2005, 106 (07) :2356-2362

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