ReviewSeminars in thrombosis and hemostasis2013
Combined deficiency of coagulation factors V and VIII: an update.
Review in Seminars in thrombosis and hemostasis, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Principles of treatment and update of recommendations for the management of haemophilia and congenital bleeding disorders in Italy.Blood transfusion = Trasfusione del sangue · 2014Guideline
- [From structure to function: new developments in the interaction of coagulation factor Ⅴ with tissue factor pathway inhibitor α].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Review
- Zinc-mediated structural and functional regulation of ERp44 and ERGIC-53 in protein quality control.Journal of biochemistry · 2026Review
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Combined deficiency of factor V and factor VIII in a pediatric patient: a case report.Journal of medical case reports · 2025Article
- Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.Seminars in thrombosis and hemostasis · 2025Review
- Efficient generation of liver sinusoidal endothelial-like cells secreting coagulation factor VIII from human induced pluripotent stem cells.Molecular therapy. Methods & clinical development · 2024Article
- RNAi targeting LMAN1-MCFD2 complex promotes anticoagulation in mice.Journal of thrombosis and thrombolysis · 2024Article
- Structure of full-length ERGIC-53 in complex with MCFD2 for cargo transport.Nature communications · 2024Article
- Article
- Clotting Factor Deficiencies as an Underlying Cause of Abnormal Uterine Bleeding in Women of Reproductive Age: A Literature Review.Life (Basel, Switzerland) · 2023Review
- VHrare study: Prevalence, clinical features and management of severe rare bleeding disorders in a large cohort.EJHaem · 2023Review
- Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of FV and FVIII.Blood advances · 2023Article
- Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.The American journal of case reports · 2022Article
- The Vascular Endothelium and Coagulation: Homeostasis, Disease, and Treatment, with a Focus on the Von Willebrand Factor and Factors VIII and V.International journal of molecular sciences · 2022Review
- Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations.International journal of molecular sciences · 2022Article
- LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of α1-antitrypsin.The Biochemical journal · 2022Article
- High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.International journal of molecular sciences · 2021Article
- Review
- Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Combined deficiency of factor V (FV) and FVIII (F5F8D) is an autosomal recessive bleeding disorder characterized by simultaneous decreases of both coagulation factors. This review summarizes recent reports on the clinical presentations, treatments, and molecular mechanism of F5F8D. Genetic studies identified LMAN1 and MCFD2 as causative genes for this disorder, revealing a previously unknown intracellular transport pathway shared by the two important blood coagulation factors. LMAN1 and MCFD2 form a Ca2+-dependent cargo receptor complex that functions in the transport of FV/FVIII from the endoplasmic reticulum (ER) to the Golgi. Disrupting the LMAN1-MCFD2 receptor, complex formation is the primary molecular defect of missense mutations leading to F5F8D. The EF-hand domains of MCFD2 are necessary and sufficient for the interactions with both LMAN1 and FV/FVIII. Similarly, the carbohydrate recognition domain of LMAN1 contains distinct and separable binding sites for both MCFD2 and FV/FVIII. Therefore, FV and FVIII likely carry duel sorting signals that are separately recognized by LMAN1 and MCFD2 and necessary for the efficient ER-to-Golgi transport. FV and FVIII likely bind LMAN1 through the high-mannose N-linked glycans under the higher Ca2+ conditions in the ER and dissociate in the lower Ca2+ environment of the ER-Golgi intermediate compartment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.