Combined deficiency of coagulation factors V and VIII: an update (Q26820265)

Crossref

Bin Zhang

series ordinal

2

1 reference

Crossref

language of work or name

1 reference

September 2013

1 reference

Seminars in Thrombosis and Hemostasis

published in

1 reference

volume

39

1 reference

issue

6

1 reference

page(s)

613-20

1 reference

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

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1 reference

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Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency

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Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII

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New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2

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The crystal structure of the carbohydrate-recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals an unpredicted metal-binding site and conformational changes associated with calcium ion binding

7 April 2017

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Sar1p N-terminal helix initiates membrane curvature and completes the fission of a COPII vesicle

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Stent thrombosis is associated with an impaired response to antiplatelet therapy

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

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High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability

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LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway

7 April 2017

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Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin

7 April 2017

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

7 April 2017

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Combined factor V and VIII deficiency and pregnancy

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

28 September 2017

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The COPII pathway and hematologic disease

28 September 2017

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Developmental haemostasis for factor V and factor VIII levels in neonates: a case report of spontaneous cephalhaematoma.

28 September 2017

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Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysis

28 September 2017

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Protein interaction profiling of the p97 adaptor UBXD1 points to a role for the complex in modulating ERGIC-53 trafficking

28 September 2017

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Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII.

28 September 2017

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

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Protein sorting receptors in the early secretory pathway

28 September 2017

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Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency

28 September 2017

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

28 September 2017

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Combined Factor V and Factor VIII Deficiency.

28 September 2017

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

28 September 2017

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

28 September 2017

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Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin

28 September 2017

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Proteins of the secretory pathway govern virus productivity during lytic gammaherpesvirus infection

28 September 2017

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The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2.

28 September 2017

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Receptor-mediated protein transport in the early secretory pathway

28 September 2017

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Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex

28 September 2017

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

28 September 2017

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The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation

28 September 2017

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The pH of the secretory pathway: measurement, determinants, and regulation

28 September 2017

1 reference

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The lectin ERGIC-53 is a cargo transport receptor for glycoproteins

28 September 2017

1 reference

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High-resolution calcium mapping of the endoplasmic reticulum-Golgi-exocytic membrane system. Electron energy loss imaging analysis of quick frozen-freeze dried PC12 cells

28 September 2017

1 reference

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Circumcision in males with bleeding disorders

28 September 2017

1 reference

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Successful Use of Factor VIII Concentrate and Fresh Frozen Plasma for Four Dental Extractions in an Individual with Combined Factor V and VIII Deficiency

31 May 2018

1 reference

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pH-induced conversion of the transport lectin ERGIC-53 triggers glycoprotein release

31 May 2018

1 reference

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Ca2+ homeostasis in the endoplasmic reticulum: coexistence of high and low [Ca2+] subcompartments in intact HeLa cells

31 May 2018

1 reference

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Subcellular localization of ERGIC-53 under endoplasmic reticulum stress condition.

31 May 2018

1 reference

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Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

Successful use of recombinant FVIIa in combined factor V and FVIII deficiency with surgical bleeding resistant to substitutive treatment. A case report.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

Clinical manifestations of combined factor V and VIII deficiency: a series of 37 cases from a single center in India

28 November 2018

1 reference

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[Combined deficiency of factors V and VIII caused by a novel compound heterozygous mutation of gene Lman1].

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

Long-term safety and efficacy of sirolimus-eluting stents in Japanese patients: a single-center cohort study

28 November 2018

1 reference

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A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII.

28 November 2018

1 reference

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Response to the DDAVP test in a patient with combined deficiency of factor V and factor VIII.

28 November 2018

1 reference

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Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran

28 November 2018

1 reference

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ER export of ERGIC-53 is controlled by cooperation of targeting determinants in all three of its domains

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

Combined factor V and factor VIII deficiency among non-Ashkenazi Jews

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4446966

[Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers]

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23852824

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1055/S-0033-1349223

0 references

1 reference

PubMed publication ID

23852824

1 reference