Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1995-11-29
2000-02-08
Horlick, Kenneth R.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 912, 435 911, 536 243, C12Q 168, C12P 1934, C07H 2104
Patent
active
060226870
ABSTRACT:
A method of diagnosing hereditary haemorrhagic telangiectasia (HHT) which includes the steps of:
REFERENCES:
Bellon, T., et al., "Identification and Expression of Two Forms of the Human Transforming Growth Factor-.beta.-binding Protein Endoglin with Distinct Cytoplasmic Regions", 1993, Eur. J. Immunol., 23:2340-45.
Braverman, I., et al., "Ultrastructure and Three-Dimensional Organization of the Telangiectases of Hereditary Hemorrhagic Telangiectasia", 1990, J. Investigative Dermatology, 95:422-27.
Cheifetz, S., et al., Endoglin Is a Component of the Transforming Growth Factor-.beta. Receptor System in Human Endothelial Cells, 1992, J. Biological Chem., 267:19027-30.
Dumont, D., et al., "Dominant-negative and Targeted Null Mutations in the Endothelial Receptor Tyrosine Kinase, tek, Reveal a Critical Role in Vasculogenesis of the Embryo", 1994, Genes & Develop., 8:1897-909.
Fernandez-Ruiz E., et al., "Assignment of the Human Endoglin Gene (END) to 9q34.fwdarw.qter", 1993, Cytogenet. Cell Genet., 64:204-207.
Franzen, P., et al., "Cloning of a TGF.beta. Type I Receptor That Forms a Heteromeric Complex with the TGF.beta. Type II Receptor", 1993, Cell, 75:681-92.
Gougos, A., et al., "Primary Structure of Endoglin, and RGD-containing Glycoprotein of Human Endothelial Cells", 1990, J. Biol. Chem., 265:8361-64.
Gougos, A., et al., "Identification of Distinct Epitopes of Endoglin, and RGD-containing Glycoprotein of Endothelial Cells, Leukemic Cells, and Syncytiotrophoblasts", 1992, Int'l Immunology, 4:83-92.
Hashimoto, K., et al., "Hereditary Hemorrhagic Telangiectasia", 1972, Oral Surg., 34:751-67.
Jahnke, V., "Ultrastructure of Hereditary Telangiectasia", 1970, Arch. Otolaryng., 91:262-65.
Jennings, J., et al., "Comparison of the Biological Actions of TGF Beta-1 and TGF Beta-2: Differential Activity in Endothelial Cells", 1988, J. Cellular Physiol., 137:167-72.
Lastres, P., et al., "Regulated Expression on Human Macrophages of Endoglin, an Arg-Gly-Asp-containing Surface Antigen", 1992, Eur. J. Immunol., 22:393-97.
Lopez-Casillas, F., et al, "Structure and Expression of the Membrane Proteoglycan Betaglycan, a Component of the TGF-.beta. Receptor System", 1991, Cell, 67:785-95.
Lopez-Casillas, F., et al, Betaglycan Presents Ligand to the TGF.beta. Signaling Receptor, 1993, Cell, 73:1435-44.
Luscinskas, F., et al., "Integrins as Dynamic Regulators of Vascular Function", 1994, FASEB J., 8:929-38.
Madri, J., et al., "Interactions of Vascular Cells with Transforming Growth Factors-.beta..sup..alpha. ", 1990, Annals of NY Acad Sciences, 593:243-58.
Menefee, M., et al., "Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)", 1975, Arch. Otolaryngol., 101:246-51.
Mathew, S., et al., "Transforming Growth Factor Receptor Gene TGFBR2 Maps to Human Chromosome Band 3p22", 1994, Genomics, 20:114-15.
Millauer, B., et al., "High Affinity VEGF Binding and Developmental Expression Suggest Flk-1 as a Major Regulator of Vasculogenesis and Angiogenesis", 1993, Cell, 72:835-46.
Moren, A., et al., "Molecular Cloning and Characterization of the Human and Porcine Transforming Growth Factor-.beta. Type III Receptors", 1992, Biochem. and Biophys. Res. Commun., 189:356-62.
Schnurch, H., et al., "Expression of tie-2, a Member of a Novel Family of Receptor Tyrosine Kinases, in the Endothelial Cell Lineage", 1993, Development, 119:957-68.
Shovlin, C., et al., "A Gene for Hereditary Haemorrhagic Telangiectasia Maps to Chromosome 9q3", 1994, Nature Genetics, 6:205-209.
St.-Jacques, S., et al,. "Molecular Characterization and in Situ Localization of Murine Endoglin Reveal that is a Transforming Growth Factor-.beta. Binding Protein of Endothelial and Stromal Cells", 1994, Endocrinology, 134:2645-57.
Wang, X., et al., "Expression Cloning and Characterization of the TGF-.beta. Type III Receptor", 1991, Cell, 67:797-805.
White, M., et al., "Detecting Single Base Substitutions as Heteroduplex Polymorphisms", 1992, Genomics, 12:301-306.
Wrana, J., et al., "TGF.beta. Signals Through a Heteromeric Protein Kinase Receptor Complex", 1992, Cell, 71:1003-14.
Wrana, J., et al., "Mechanism of Activation of the TGF-.beta. Receptor", 1994, Nature, 370:341-47.
Attisano et al., "Identification of Human Activin and TGF.beta. Type I Receptors That Form Heteromeric Kinase Complexes with Type II Receptors", 1993, Cell 75:671-680.
Heutink et al., "Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity", 1994, J. Med. Genet., 31:933-936.
Lin et al., "Expression Cloning of the TGF-.beta. Type II Receptor, a Functional Transmembrane Serine/Threonine Kinase", 1992, Cell 68:775-785.
McAllister et al., "Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype", 1994, J. Med. Genet., 31:927-932.
McDonald et al., "A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34", 1994, Nature Genetics, 6:197-204.
Porteous et al., "Genetic heterogeneity in hereditary haemorrhagic telangiectasia", 1994, J. Med. Genet., 31:925-926.
Yamashita et al., "Endoglin Forms of Heteromeric Complex with the Signaling Receptors for Transforming Growth Factor-.beta.", 1994, J. Biol. Chem., 269:1995-2001.
Ge et al. "Cloning and expression of a cDNA encoding mouse endoglin, an endothelial cell TGF-.beta. Ligand", 1994, Gene, 138:201-206.
McAllister et al., "Endoglin, a TGF-.beta. binding protein of endothelia cells, is the gene for hereditary haemorrhagic telangiectasia type 1", 1994, Nature Genetics, 8:345-351.
O'Connell et al., "Endoglin: a 180-kD endothelial cell and macrophage restricted differentiation molecule", 1992, Clin. exp. Immunol., 90:154-159.
Letarte Michelle
Marchuk Douglas A.
McAllister Kimberly
Duke University
Horlick Kenneth R.
Tung Joyce
LandOfFree
Diagnosis of and therapy for hereditary haemorrhagic telangiecta does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Diagnosis of and therapy for hereditary haemorrhagic telangiecta, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Diagnosis of and therapy for hereditary haemorrhagic telangiecta will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-1679884