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Items: 15

Select item 94958171.

Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings

Shahad Alsheikh, Rizam Alghamdi, Ahlam Alqatari, Abdullah Alfareed, Mona AlSaleh

Am J Case Rep. 2022; 23: e937312-1–e937312-4. Published online 2022 Sep 18. doi: 10.12659/AJCR.937312

PMCID:: PMC9495817

Abstract Article PDF–174K

Select item 83639702.

Déficit combiné en facteurs V et VIII de la coagulation: à propos d´une fratrie de trois cas

Hassane Mamad, Souad Benkirane, Yousra El Aissaoui, Zakia Berchane, Azlarab Masrar

Pan Afr Med J. 2021; 39: 65. French. Publication en ligne 2021 mai 21. DOI : 10.11604/pamj.2021.39.65.24559

PMCID:: PMC8363970

Abstract Article PDF–428K

Select item 76868833.

Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression

Lesley A. Everett, Rami N. Khoriaty, Bin Zhang, David Ginsburg

Blood Adv. 2020 Nov 24; 4(22): 5635–5643. Published online 2020 Nov 16. doi: 10.1182/bloodadvances.2020002523

PMCID:: PMC7686883

Abstract Article PDF–1.1M

Select item 59420044.

Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo

Min Zhu, Chunlei Zheng, Wei Wei, Lesley Everett, David Ginsburg, Bin Zhang

Blood Adv. 2018 May 8; 2(9): 1014–1021. Published online 2018 May 7. doi: 10.1182/bloodadvances.2018018317

PMCID:: PMC5942004

Abstract Article PDF–1.2M

Select item 53839745.

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi

Orphanet J Rare Dis. 2017; 12: 66. Published online 2017 Apr 7. doi: 10.1186/s13023-017-0620-6

PMCID:: PMC5383974

Abstract Article PDF–681K

Select item 44469666.

Combined Deficiency of Coagulation Factors V and VIII: An Update

Chunlei Zheng, Bin Zhang

Semin Thromb Hemost. Author manuscript; available in PMC 2015 May 28.

Published in final edited form as: Semin Thromb Hemost. 2013 Sep; 39(6): 613–620. Published online 2013 Jul 12. doi: 10.1055/s-0033-1349223

PMCID:: PMC4446966

Abstract Article PDF–361K

Select item 42528567.

Genetic variants in Cell Adhesion Molecule 1 (CADM1): a validation study of a novel endothelial cell venous thrombosis risk factor

Hugoline G. de Haan, Irene D. Bezemer, Carla Y. Vossen, Astrid van Hylckama Vlieg, Stefan Böehringer, Sandra J. Hasstedt, Samuel Levy, Frits R. Rosendaal, Edwin G. Bovill

Thromb Res. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Thromb Res. 2014 Dec; 134(6): 1186–1192. Published online 2014 Sep 23. doi: 10.1016/j.thromres.2014.09.018

PMCID:: PMC4252856

Abstract Article PDF–420K

Select item 37113158.

Structural Characterization of Carbohydrate Binding by LMAN1 Protein Provides New Insight into the Endoplasmic Reticulum Export of Factors V (FV) and VIII (FVIII)

Chunlei Zheng, Richard C. Page, Vaijayanti Das, Jay C. Nix, Edvard Wigren, Saurav Misra, Bin Zhang

J Biol Chem. 2013 Jul 12; 288(28): 20499–20509. Published online 2013 May 24. doi: 10.1074/jbc.M113.461434

PMCID:: PMC3711315

Abstract Article PDF–2.7M

Select item 36886409.

Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1

Anjan J Patel, Hui-hui Liu, Robert A Lager, Vera Malkovska, Bin Zhang

Haemophilia. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Haemophilia. 2013 Jul; 19(4): 607–610. Published online 2013 Apr 5. doi: 10.1111/hae.12128

PMCID:: PMC3688640

Abstract Article PDF–841K

Select item 339096010.

The COPII pathway and hematologic disease

Rami Khoriaty, Matthew P. Vasievich, David Ginsburg

Blood. 2012 Jul 5; 120(1): 31–38. Prepublished online 2012 May 14. doi: 10.1182/blood-2012-01-292086

PMCID:: PMC3390960

Abstract Article

Select item 281763411.

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

Chunlei Zheng, Hui-hui Liu, Jiahai Zhou, Bin Zhang

Blood. 2010 Feb 4; 115(5): 1081–1087. Prepublished online 2009 Dec 9. doi: 10.1182/blood-2009-09-241877

PMCID:: PMC2817634

Abstract Article

Select item 242415612.

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII

Bin Zhang, Marta Spreafico, Chunlei Zheng, Angela Yang, Petra Platzer, Michael U. Callaghan, Zekai Avci, Namik Ozbek, Johnny Mahlangu, Tabitha Haw, Randal J. Kaufman, Kandice Marchant, Edward G. D. Tuddenham, Uri Seligsohn, Flora Peyvandi, David Ginsburg

Blood. 2008 Jun 15; 111(12): 5592–5600. Prepublished online 2008 Apr 7. doi: 10.1182/blood-2007-10-113951

PMCID:: PMC2424156

Abstract Article

Select item 189570313.

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Bin Zhang, Beth McGee, Jennifer S. Yamaoka, Hugo Guglielmone, Katharine A. Downes, Salvador Minoldo, Gustavo Jarchum, Flora Peyvandi, Norma B. de Bosch, Arlette Ruiz-Saez, Bernard Chatelain, Marian Olpinski, Paula Bockenstedt, Wolfgang Sperl, Randal J. Kaufman, William C. Nichols, Edward G. D. Tuddenham, David Ginsburg

Blood. 2006 Mar 1; 107(5): 1903–1907. Prepublished online 2006 Jan 31. doi: 10.1182/blood-2005-09-3620