Hemophilia A Patients with Undetectable Mutations: Current Knowledge and Future Directions*

El‐Maarri, Osman; Brackmann, H.‐H.; Hanfland, P.; Oldenburg, J.

doi:10.1159/000091104

Cited by 2 publications

(1 citation statement)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Indeed, recent studies have found that mutations leading to HA can be traced to the intronic regions other than 22 and 1 [28,29] and the promoter region of the F8 gene [7], as well as other proteins (e.g. LMNA1 and MCFD2) that affect the synthesis, secretion or functional activity of FVIII protein [30].…”

Section: Resultsmentioning

confidence: 99%

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A

Chang

Chen

et al. 2008

Haemophilia

View full text Add to dashboard Cite

Summary. Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by various types of pathological defects in the factor VIII gene (F8), which encodes coagulation factor VIII (FVIII). To date, several studies on the spectra of F8 defects have been performed in Western populations, but similar studies in Asian races are scarce. Here, we report the distribution of the mutations within the F8 gene in 31 Taiwanese unrelated HA patients (19 severe and 10 moderate/mild males and two severe females). Of these, 12 (38.7%) and one (3.2%) severe males were genotyped with the recurrent IVS22 and IVS1 inversion, respectively, similar to that in general populations (IVS22: 40-50%; IVS1: 2-5%). The F8 defects in the remaining 18 inversion-negative patients cover a wide spectrum, in which 17 different mutations were identified (10 missense and three nonsense mutations, and two small and two large deletions).Eleven of these mutations are novel: seven caused missense substitutions and four resulted in truncated proteins. To assess the putative pathogenetic impacts of the newly amino acid substitutions, computer analyses were performed based on molecular 3D modelling. The degree of conservation in crossspecies FVIIIs and the position in known functional FVIII regions were studied. The novel missense mutations found in our series all occurred at evolutionary conserved residues that may carry a functional importance in our analyses. The results of this study add the short list of Taiwanese/Chinese F8 mutations, and will enhance our understanding of the molecular basis of FVIII function and the mechanism underlying HA.

show abstract

Section: Resultsmentioning

confidence: 99%

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A

Chang

Chen

et al. 2008

Haemophilia

View full text Add to dashboard Cite

show abstract

Vascular restoration therapy and bioresorbable vascular scaffold

Wang

Zhang

2014

Regenerative Biomaterials

View full text Add to dashboard Cite

This article describes the evolution of minimally invasive intervention technologies for vascular restoration therapy from early-stage balloon angioplasty in 1970s, metallic bare metal stent and metallic drug-eluting stent technologies in 1990s and 2000s, to bioresorbable vascular scaffold (BVS) technology in large-scale development in recent years. The history, the current stage, the challenges and the future of BVS development are discussed in detail as the best available approach for vascular restoration therapy. The criteria of materials selection, design and processing principles of BVS, and the corresponding clinical trial results are also summarized in this article.

show abstract

Hemophilia A Patients with Undetectable Mutations: Current Knowledge and Future Directions*

Cited by 2 publications

References 26 publications

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A

Vascular restoration therapy and bioresorbable vascular scaffold

Contact Info

Product

Resources

About