Characterization of four novel molecular changes in the promoter region of the factor VIII gene-Reference-Cited by-同舟云学术

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Characterization of four novel molecular changes in the promoter region of the factor VIII gene

Published:2013-12-30 Issue:2 Volume:20 Page:e149-e156
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Nougier C.¹²,Roualdes O.¹²,Fretigny M.¹,d'Oiron R.³,Costa C.⁴,Negrier C.¹²,Vinciguerra C.¹²

Affiliation:

1. Service d'Hématologie Biologique; HCL, Hôpital Edouard Herriot; Lyon France

2. EAM 4174 Hémostase, Inflammation et Sepsis; Université Claude Bernard Lyon 1; Lyon France

3. Centre de Traitement pour Hémophiles, AP-HP Hôpital Bicêtre; Université Paris XI; le Kremlin-Bicêtre France

4. Département de Génétique; CHU Henri Mondor-AP-HP; Créteil France

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12346/fullpdf

Reference36 articles.

1. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis;White;Thromb Haemost,2001

2. Structure of human factor VIII;Vehar;Nature,1984

3. Characterization of the human factor VIII gene;Gitschier;Nature,1984

4. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993

5. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study;Antonarakis;Blood,1995

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1. Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score;Thrombosis and Haemostasis;2024-05-17

2. FABIAN-variant: predicting the effects of DNA variants on transcription factor binding;Nucleic Acids Research;2022-05-26

3. Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy;Haematologica;2020-05-28

4. Innovative Molecular Testing Strategies for Adjunctive Investigations in Hemostasis and Thrombosis;Seminars in Thrombosis and Hemostasis;2019-08-12

5. Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts;Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms;2019-06

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