Fregin A - Search Results

1

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hörtnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Müller CR, Strom TM, Oldenburg J. Rost S, et al. Among authors: fregin a. Nature. 2004 Feb 5;427(6974):537-41. doi: 10.1038/nature02214. Nature. 2004. PMID: 14765194

2

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

Rost S, Fregin A, Koch D, Compes M, Müller CR, Oldenburg J. Rost S, et al. Among authors: fregin a. Br J Haematol. 2004 Aug;126(4):546-9. doi: 10.1111/j.1365-2141.2004.05071.x. Br J Haematol. 2004. PMID: 15287948 Free article.

3

Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarin.

Rost S, Fregin A, Hünerberg M, Bevans CG, Müller CR, Oldenburg J. Rost S, et al. Among authors: fregin a. Thromb Haemost. 2005 Oct;94(4):780-6. doi: 10.1160/TH05-02-0082. Thromb Haemost. 2005. PMID: 16270630

4

Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1.

Rost S, Geisen C, Fregin A, Seifried E, Müller CR, Oldenburg J. Rost S, et al. Among authors: fregin a. Blood Coagul Fibrinolysis. 2006 Sep;17(6):503-7. doi: 10.1097/01.mbc.0000240927.88177.d1. Blood Coagul Fibrinolysis. 2006. PMID: 16905958

5

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.

Müller E, Keller A, Fregin A, Müller CR, Rost S. Müller E, et al. Among authors: fregin a. BMC Genet. 2014 Feb 4;15:17. doi: 10.1186/1471-2156-15-17. BMC Genet. 2014. PMID: 24491178 Free PMC article.

6

Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.

Fregin A, Rost S, Wolz W, Krebsova A, Muller CR, Oldenburg J. Fregin A, et al. Blood. 2002 Nov 1;100(9):3229-32. doi: 10.1182/blood-2002-03-0698. Blood. 2002. PMID: 12384421 Free article.

7

The genetic basis of resistance to anticoagulants in rodents.

Pelz HJ, Rost S, Hünerberg M, Fregin A, Heiberg AC, Baert K, MacNicoll AD, Prescott CV, Walker AS, Oldenburg J, Müller CR. Pelz HJ, et al. Among authors: fregin a. Genetics. 2005 Aug;170(4):1839-47. doi: 10.1534/genetics.104.040360. Epub 2005 May 6. Genetics. 2005. PMID: 15879509 Free PMC article.

8

Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex.

Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, Eber S, Lenz E, Schwaab R, Brackmann HH, Effenberger W, Harbrecht U, Schurgers LJ, Vermeer C, Müller CR. Oldenburg J, et al. Among authors: fregin a. Thromb Haemost. 2000 Dec;84(6):937-41. Thromb Haemost. 2000. PMID: 11154138

9

A new cell culture-based assay quantifies vitamin K 2,3-epoxide reductase complex subunit 1 function and reveals warfarin resistance phenotypes not shown by the dithiothreitol-driven VKOR assay.

Fregin A, Czogalla KJ, Gansler J, Rost S, Taverna M, Watzka M, Bevans CG, Müller CR, Oldenburg J. Fregin A, et al. J Thromb Haemost. 2013 May;11(5):872-80. doi: 10.1111/jth.12185. J Thromb Haemost. 2013. PMID: 23452238 Free article.

10

Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy.

Oldenburg J, Quenzel EM, Harbrecht U, Fregin A, Kress W, Müller CR, Hertfelder HJ, Schwaab R, Brackmann HH, Hanfland P. Oldenburg J, et al. Among authors: fregin a. Br J Haematol. 1997 Jul;98(1):240-4. doi: 10.1046/j.1365-2141.1997.2213036.x. Br J Haematol. 1997. PMID: 9233593 Free article.

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