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Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III

Article Abstract:

The molecular causes of hereditary angioedema type III (HAE type III) are described and the F12 (the gene for blood-coagulation factor XII (Hageman factor)) locus is investigated in patients with HAE type III. The results have helped in understanding the molecular processes involved in HAE type III and have provided diagnostic and new therapeutic opportunities.

Author: Bork, Konrad, Colombo, Roberto, Hennies, Hans Christian, Cichon, Sven, Martin, Ludovic, Muller, Felicitas, Van Driessche, Karen, Karpushova, Anna, Stevens, Wim, Renne, Thomas, Drouet, Christian, Nothen, Markus M.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Pharmaceutical Preparation Manufacturing, Pharmaceutical preparations, Estrogen & Progestogen Preps, Gene mutations, Gene mutation, Blood coagulation factors, Estrogen, Estrogens, Angioneurotic edema

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The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effect between loci on chromosome 2q and 6q

Article Abstract:

The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder (BPAD) is presented. The studies provide systematic insight in the framework of BPAD epistatis and locus heterogeneity and would facilitate gene identification by the use of more-comprehensive cloning strategies.

Author: Gonzalez, Maria Jose, Cichon, Sven, Nothen, Markus M., Jamra, Rami Abou, Feurst, Robert, Kaneva, Radka, Diaz, Guillermo Orozco, Rivas, Fabio, Mayoral, Fermin, Gay, Eudoxia, Sans, Sebastian, Gil, Susana, Cabaleiro, Francisco, Rio, Francisco del, Perez, Fermin, Haro, Jesus, Auberger, Georg, Milanova, Vihra, Kostov, Christian, Chorbov, Vesselin, Stoyanova, Vessela, Nikolova-Hill, Amelia, Onchev, George, Kremensky, Ivo, Jablensky, Assen, Schulze, Thomas G., Propping, Peter, Rietschel, Marcella, Wienker, Thomas F., Schumacher, Johannes
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Methods, Cloning, Bipolar disorder, Human genome

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Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26

Article Abstract:

A combination of genome-wide scan and fine-mapping linkage study is employed to study the origin and susceptibility genes of androgenetic alopecia (AGA), the most common form of hair loss. The locus on the chromosome 3q26 is found to be a major source of AGA in males.

Author: Ruzicka, Thomas, Hennies, Hans Christian, Nothen, Markus M., Hillmer, Axel M., Flaquer, Antonia, Hanneken, Sandra, Eigelshoven, Sibylle, Kortum, Anne-Katrin, Brockschmidt, Felix F., Golla, Astrid, Metzen, Christine, Thiele, Holger, Kolberg, Susanne, Reinartz, Roman, Betz, Regina C., Kruse, Roland
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Baldness, Alopecia, X chromosome, Genetic susceptibility

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Subjects list: Research, Genetic aspects, Report
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