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Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor
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Research works printed but not linked: 14
- Kaplan, 2005, Angioedema, J. Am. Acad. Dermatol., 53, 373, 10.1016/j.jaad.2004.09.032 · DOI · Paper page
- Tosi, 1998, Molecular genetics of C1 inhibitor, Immunobiology, 199, 358, 10.1016/S0171-2985(98)80040-5 · DOI
- Zuraw, 2000, Detection of C1 inhibitor mutations in patients with hereditary angioedema, J. Allergy Clin. Immunol., 105, 541, 10.1067/mai.2000.104780 · DOI
- Bowen, 2001, A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations, Clin. Immunol., 98, 157, 10.1006/clim.2000.4947 · doi:10.1006/clim.2000.4947
- Bork, 2000, Hereditary angioedema with normal C1-inhibitor in women, Lancet, 356, 213, 10.1016/S0140-6736(00)02483-1 · DOI · Paper page
- Binkley, 2000, Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema, J. Allergy Clin. Immunol., 106, 546, 10.1067/mai.2000.108106 · DOI · Paper page
- Bork, 2006, Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men, Br. J. Dermatol., 154, 542, 10.1111/j.1365-2133.2005.07048.x · DOI
- Martin, 2001, Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission, J. Allergy Clin. Immunol., 107, 747, 10.1067/mai.2001.114242 · doi:10.1067/mai.2001.114242
- Bork, 2003, Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy, Am. J. Med., 114, 294, 10.1016/S0002-9343(02)01526-7 · DOI · Paper page
- Kaplan, 1997, The intrinsic coagulation/kinin-forming cascade: assembly in plasma and cell surfaces in inflammation, Adv. Immunol., 66, 225, 10.1016/S0065-2776(08)60599-4 · DOI
- Cool, 1987, Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5′-flanking region, J. Biol. Chem., 262, 13662, 10.1016/S0021-9258(19)76478-3 · DOI
- Cool, 1985, Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa, J. Biol. Chem., 260, 13666, 10.1016/S0021-9258(17)38776-8 · DOI
- Citarella, 1992, Control of human coagulation by recombinant serine proteases. Blood clotting is activated by recombinant factor XII deleted of five regulatory domains, Eur. J. Biochem., 208, 23, 10.1111/j.1432-1033.1992.tb17155.x · doi:10.1111/j.1432-1033.1992.tb17155.x
- Citarella, 1996, Structure/function analysis of human factor XII using recombinant deletion mutants. Evidence for an additional region involved in the binding to negatively charged surfaces, Eur. J. Biochem., 238, 240, 10.1111/j.1432-1033.1996.0240q.x · doi:10.1111/j.1432-1033.1996.0240q.x
Cited by
Maurer, M., Magerl, M., Ansotegui, I., Aygören‐Pürsün, E., Betschel, S., Bork, K., Bowen, T., Balle Boysen, H., Farkas, H., Grumach, A. S., et al. (2018) · Allergy · doi:10.1111/all.13384 · Cited by 513
Self-citationIncreased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III
Cichon, S., Martin, L., Hennies, H. C., Müller, F., Van Driessche, K., Karpushova, A., Stevens, W., Colombo, R., Renné, T., Drouet, C., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/509899 · Cited by 329
Self-citationHAE Pathophysiology and Underlying Mechanisms
Zuraw, B. L., & Christiansen, S. C. (2016) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-016-8561-8 · Cited by 164
Cilia La Corte, A. L., Carter, A. M., Rice, G. I., Duan, Q. L., Rouleau, G. A., Adam, A., Grant, P. J., & Hooper, N. M. (2011) · Human Mutation · doi:10.1002/humu.21579 · Cited by 154
The Expanding Spectrum of Mutations in Hereditary Angioedema
Veronez, C. L., Csuka, D., Sheikh, F. R., Zuraw, B. L., Farkas, H., & Bork, K. (2021) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2021.03.008 · Cited by 57
Self-citation
Metadata
- Authors
- Dewald, G., & Bork, K.
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 2006-05
- Volume
- 343
- Issue
- 4
- Pages
- 1286-1289
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2125474642
- Cited by
- 402
- References
- 0
- FWCI
- 6.26
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/legal/tdmrep-license (tdm)
- doi.org/10.15223/policy-017 (stm-asf)
- doi.org/10.15223/policy-037 (stm-asf)
- doi.org/10.15223/policy-012 (stm-asf)
- doi.org/10.15223/policy-029 (stm-asf)
- doi.org/10.15223/policy-004 (stm-asf)
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- CoChat. (2026). Citation check: Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. https://app.cochat.ai/papers/10.1016/j.bbrc.2006.03.092
- The paper
- Dewald, G., & Bork, K. (2006). Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochemical and Biophysical Research Communications. https://doi.org/10.1016/j.bbrc.2006.03.092
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
