Non-secretable F8 variant [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9661970
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
Synonyms
Non-secretable FVIII variant
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
24108539 Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein

Pahl, S, Pavlova, A, Driesen, J, Oldenburg, J

Thromb. Haemost. 2014
28327546 Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII

Wei, W, Zheng, C, Zhu, M, Zhu, X, Yang, R, Misra, S, Zhang, B

Sci Rep 2017
24037092 Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A

Pandey, GS, Yanover, C, Miller-Jenkins, LM, Garfield, S, Cole, SA, Curran, JE, Moses, EK, Rydz, N, Simhadri, V, Kimchi-Sarfaty, C, Lillicrap, D, Viel, KR, Przytycka, TM, Pierce, GF, Howard, TE, Sauna, ZE

Nat. Med. 2013
30690819 Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Jourdy, Y, Fretigny, M, Nougier, C, Negrier, C, Bozon, D, Vinciguerra, C

Haemophilia 2019
29170251 Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity

Donadon, I, McVey, JH, Garagiola, I, Branchini, A, Mortarino, M, Peyvandi, F, Bernardi, F, Pinotti, M

Haematologica 2018
10691849 Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A

Roelse, JC, De Laaf, RT, Timmermans, SM, Peters, M, van Mourik, JA, Voorberg, J

Br. J. Haematol. 2000
29444815 Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII

Wei, W, Misra, S, Cannon, MV, Yang, R, Zhu, X, Gilmore, R, Zhu, M, Zhang, B

Biochem. J. 2018
11380445 Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r))

David, D, Saenko, EL, Santos, IM, Johnson, DJ, Tuddenham, EG, McVey, JH, Kemball-Cook, G

Br. J. Haematol. 2001
21217077 Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein

Summers, RJ, Meeks, SL, Healey, JF, Brown, HC, Parker, ET, Kempton, CL, Doering, CB, Lollar, P

Blood 2011
2107542 Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

Kogan, S, Gitschier, J

Proc. Natl. Acad. Sci. U.S.A. 1990
8810344 Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins

Pipe, SW, Kaufman, RJ

J. Biol. Chem. 1996
25406352 The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics

Sauna, ZE, Lozier, JN, Kasper, CK, Yanover, C, Nichols, T, Howard, TE

Blood 2015
8836140 Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A

Voorberg, J, De Laaf, RT, Koster, PM, van Mourik, JA

Biochem. J. 1996
15810915 Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

Hill, M, Deam, S, Gordon, B, Dolan, G

Haemophilia 2005
Participants
members
Participant Of
Disease
Name Identifier Synonyms
factor VIII deficiency 12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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