Literature DB >> 23006835

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.

M Zhu1, V DAS, C Zheng, S Majumdar, B Zhang.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23006835      PMCID： PMC3563766          DOI： 10.1111/jth.12002

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


× No keyword cloud information.
  16 in total

1.  ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

Authors:  W C Nichols; V H Terry; M A Wheatley; A Yang; A Zivelin; N Ciavarella; C Stefanile; T Matsushita; H Saito; N B de Bosch; A Ruiz-Saez; A Torres; A R Thompson; D I Feinstein; G C White; C Negrier; C Vinciguerra; M Aktan; R J Kaufman; D Ginsburg; U Seligsohn
Journal:  Blood       Date:  1999-04-01       Impact factor: 22.113

Review 2.  Listening to silence and understanding nonsense: exonic mutations that affect splicing.

Authors:  Luca Cartegni; Shern L Chew; Adrian R Krainer
Journal:  Nat Rev Genet       Date:  2002-04       Impact factor: 53.242

3.  Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII.

Authors:  W C Nichols; U Seligsohn; A Zivelin; V H Terry; C E Hertel; M A Wheatley; M J Moussalli; H P Hauri; N Ciavarella; R J Kaufman; D Ginsburg
Journal:  Cell       Date:  1998-04-03       Impact factor: 41.582

4.  Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.

Authors:  Chunlei Zheng; Hui-Hui Liu; Shuguang Yuan; Jiahai Zhou; Bin Zhang
Journal:  Blood       Date:  2010-09-03       Impact factor: 22.113

5.  EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.

Authors:  Chunlei Zheng; Hui-hui Liu; Jiahai Zhou; Bin Zhang
Journal:  Blood       Date:  2009-12-09       Impact factor: 22.113

Review 6.  Recent developments in the understanding of the combined deficiency of FV and FVIII.

Authors:  Bin Zhang
Journal:  Br J Haematol       Date:  2009-01-16       Impact factor: 6.998

7.  High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability.

Authors:  Nina Roeckel; Stefan M Woerner; Matthias Kloor; Yan-Ping Yuan; Georgios Patsos; Roland Gromes; Juergen Kopitz; Johannes Gebert
Journal:  Cancer Res       Date:  2009-01-01       Impact factor: 12.701

8.  Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Authors:  M Neerman-Arbez; K M Johnson; M A Morris; J H McVey; F Peyvandi; W C Nichols; D Ginsburg; C Rossier; S E Antonarakis; E G Tuddenham
Journal:  Blood       Date:  1999-04-01       Impact factor: 22.113

9.  Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Authors:  Bin Zhang; Michael A Cunningham; William C Nichols; John A Bernat; Uri Seligsohn; Steven W Pipe; John H McVey; Ursula Schulte-Overberg; Norma B de Bosch; Arlette Ruiz-Saez; Gilbert C White; E G D Tuddenham; Randal J Kaufman; David Ginsburg
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

10.  Identification, by a monoclonal antibody, of a 53-kD protein associated with a tubulo-vesicular compartment at the cis-side of the Golgi apparatus.

Authors:  A Schweizer; J A Fransen; T Bächi; L Ginsel; H P Hauri
Journal:  J Cell Biol       Date:  1988-11       Impact factor: 10.539
View more
  1 in total

Review 1.  Combined deficiency of coagulation factors V and VIII: an update.

Authors:  Chunlei Zheng; Bin Zhang
Journal:  Semin Thromb Hemost       Date:  2013-07-12       Impact factor: 4.180
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.