CaIDAG-GEF1 gene mutations associated with thrombopathy in...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

C435S091100, C435S091200, C536S023100, C536S024300

Reexamination Certificate

active

07838232

ABSTRACT:
The present invention relates to methods and compositions for detecting mutations associated with thrombopathy. In particular, the invention relates to methods and composition for detecting mutations in the CalDAG-GEF1 gene that are associated with thrombopathy.

REFERENCES:
James L. Catalfamo et al; Thrombin Receptor-Activating Peptides Unlike Thrombimn are Insufficient for Platelet Activation in Most Species Abstract; Thromb Haemost vol. 69; 1993; pp. 1195.
Mary K. Boudreaux et al; Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I gene mutations associated with loss of function in canine platelets; Translation Res. 150; 2007; pp. 81-92.
Jan Schultress et al; Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets; 2005 by The American Society of Hematology; pp. 3185-3192.
Sanford J. Shattil and Peter J. Newman; Integrins: dynamic scaffolds for adhesion and signaling in platelets; Blood, Sep. 15, 2004; vol. 104, No. 6, pp. 1606-1615.
Wolfgang Bergmeier et al; Mice lacking the signaling molecule CaIDAG-GEFI represent a model for leukocyte adhesion deficiency type III; The Journal of Clinical Investigation; vol. 117, No. 6, Jun. 2007; pp. 1699-1707.
Ronit Pasvolsky et al; A LAD-III syndrome is associated with defective expression of the Rap-1 activator CaIDAG-GEFI in lymphocytes, neutrophils, and platelets; The Rockefeller University Press; vol. 204, No. 7, Jul. 9, 2007; pp. 1571-1582.
Magdalena Chrzanowska-Wodnicka et al; Rap1b is required for normal platelet function and hemostasis in mice; The Journal of Clinical Investigation; vol. 115; No. 3, Mar. 2005; pp. 680-687.
Donna Woulfe et al; Activation of Rap1B by Gi Family Members in Platelets; The Journal of Biological Chemistry; vol. 277; No. 26; Issue of Jun. 28, 2002; pp. 23382-23390.
Amuro Torti and Eduardo G. Lapentina; Role of rap1B and p21ras GTPase-activating protein in the regulation of phospholipase C-gamma1 in human platelets; Proc. Natl. Acad. Sci. USA; vol. 89, Aug. 1992; pp. 7796-7800.
Barbara Franke, Jan-Willem N.Akkerman and Johannes L.Bos; Rapid Ca2+ -mediated activation of Rap1 in human platelets; The EMBO Journal, vol. 16, No. 2, 1997, pp. 252-259.
Thomas H. Fischer et al; rap1B, a cAMP-dependent Protein Kinase Substrate, Associates with the Platelet Cytoskeleton; The Journal of Biological Chemistry; vol. 265, No. 32, Nov. 15, 1990; pp. 19405-19408.
Eduardo G. Lapetina et al; A ras-related protein is phosphorylated and translocated by agonists that increase cAMP levels in human platelets; Proc. Natl. Acad. Sci. USA; vol. 86; May 1989; pp. 3131-3134.
Johannes L.Bos; All in the family? New insights and questions regarding interconnectivity of Ras, Rap1 and Ral; The EMBO Journal, vol. 17; No. 23; 1998; pp. 6776-6782.
Bruno Bernardi et al; The small GTPase Rap1b regulates the cross talk between platelet integrin alpha1 beta1 and integrin alphaIIb beta3; Blood, vol. 107, No. 7; Apr. 1, 2006; pp. 2728-2735.
Paolo Lova et al; A Gi-dependent Pathway Is Required for Activation of the Small GTPase Rap1B in Human Platelets; The Journal of Biological Chemistry; vol. 277; No. 14, Issue of Apr. 5, 2002; pp. 12009-12015.
Adam J. Dupuy et al; Activation of the Rap1 Guanine Nucleotide Exchange Gene, CaIDAG-Gef I, in BXH-2 Murine Myeloid Leukemia; The Journal of Biological Chemistry; vol. 276; No. 15; Issue of Apr. 13, 2001; pp. 11804-11811.
Shigeko Yamashita et al; CaIDAG-GEFIII Activation of Ras, R-Ras, and Rap1; The Journal of Biological Chemistry; vol. 275; No. 33; Issue of Aug. 18, 2000; pp. 25488-25493.
Masamichi Shiraga et al; Primary Megakaryocytes Reveal a Role for Transcription Factor NF-E2 in Integrin alphaIIB beta3 Signaling; The Journal of Cell Biology; vol. 147; No. 7; Dec. 27, 1999; pp. 1419-1429.
Hiroaki Kawasaki et al; A Rap guanine neucleotide exchange factor enriched highly in the basal ganglia; Proc. Natl. Acad. Sci. USA, vol. 95; Oct. 1998; pp. 13278-13283.
Barbara Franke et al; Sequential Regulation of the Small GTPase Rap1 in Human Platelets; Molecular and Cellular Biology; vol. 20, No. 3; Feb. 2000; pp. 779-785.
Patricia A. Gentry et al; An Inherited Platelet Function Defect in a Simmental Crossbred Herd; Can J Vet Res 1997; vol. 61; pp. 128-133.
Gene P. Searcy and Lyall Petrie; Clinical and laboratory findings of a bleeding disorder in eight Simmental cattle; Can Vet J; vol. 31; Feb. 1990; pp. 101-103.
Gene P. Searcy et al; Preliminary Studies of a Platelet Function Disorder in Simmental Cattle; Can J Vet Res; 1990; vol. 54, pp. 394-396.
Barbara A. Steficek et al; Hemorrhagic diathesis associated with a hereditary platelet disorder in Simmental cattle; J Vet Diagn Invest 5; 1993; pp. 202-207.
I.B. Johnstone and F. Lotz; An Inherited Platelet Function Defect in Basset Hounds; Can. Vet. J. vol. 20; Aug. 1979; pp. 211-215.
James L. Catalfamo et al; Defective Platelet-Fibrinogen Interaction in Hereditary Canine Thrombopathia; Blood, vol. 67; No. 6; Jun. 1986; pp. 1568-1577.
Marjory B. Brooks et al; A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity; Blood, vol. 99; No. 7, Apr. 2002; pp. 2434-2441.
Koji Eto et al; Magakaryocytes derived from embryonic stem cells implicate CaIDAG-GEFI in integrin signaling; PNAS; vol. 99; No. 20; Oct. 1, 2002; pp. 12819-12824.
Bruno Bernardi et al; The small GTPase Rap1b regulates the cross talk between platelet integrin alpha2 beta1 and integrin alphaIIB beta3; Blood, vol. 107; No. 7; Apr. 1, 2006; pp. 2728-2735.
D.L. Lipscomb et al; Two Genetic Defects in alphaIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Inse6rtion in Exon 13 and Splicing Defect of Intron 13; Vet Pathol; vol. 37; 2000; pp. 581-588.
M.K. Boudreaux and D.L. Lipscomb; Clinical, Biochemical, and Molecular Aspects of Glanzmann's Therombasthenia in Humans and Dogs; Vet Pathol; vol. 38; 2001; pp. 249-260.
P.W. Christopherson et al; Characterization of the cDNA Encoding alphaIIb and beta3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia; Vet Pathol; vol. 43; 2006; pp. 78-82.
Alessandra Bertoni et al; Relationships between Rap1b, Affinity Modulation of Integrin alphaIIB beta3, and the Actin Cytoskeleton; The Journal of Biological Chemistry; vol. 277; No. 28, Jul. 12, 2002; pp. 25715-25721.
Reuben J. Mapletoft et al; A study of the inheritance of a bleeding disorder in Simmental cattle; Can Vet J; vol. 41; Oct. 2000; pp. 791-793.
A. Koneti Rao and Jagadeesh Gabbeta; Congenital Disorders of Platelet Signal Transduction; Arterioscler Thromb Vasc Biol.; vol. 20; 2000; pp. 285-289.
Jill R. Crittenden et al; CaIDAG-GEFI integrates signaling for platelet aggregation and thrombus formation; Nature Medicine; vol. 10; No. 9; Sep. 2004; pp. 982-986.
Kimberly L. Dodge-Kafka and Michael S. Kapiloff; The mAKAP signaling complex: Integration of cAMP, calcium, and MAP kinase signaling pathways; European Journal of Cell Biology; pp. 594-602.
M.K. Boudreaux et al; A Platelet Activation-specific Monoclonal Antibody that Recognizes a Receptor-induced Binding Site on Canine Fibrinogen; Department of Pathobiology, College of Veterinary Medicine, Auburn University, Auburn, AL; pp. 419-427.
M.F. McConnell et al; Circumvention of the Basset Hound Hereditary Thrombopathy by Platelet Activation with Phorbal Myristate Acetate; Platelets; vol. 6, No. 3, 1995; pp. 131-145.
Lidija Covic et al; Biphasic Kinetics of Activation and Signaling for PARI and PAR4 Thrombin Receptors in Platelets; Biochemistry 2000, 39; pp. 5458-5467.
Claudia K. Derian et al; Species Differences in Platelet Responses to Thrombin and SFLLRN, Receptor-Mediate Calcium Mobilization and Aggregation, and Regulation by Protein Kinases; Thrombosis Research; vol. 78, No. 6, 1995; pp. 505-519.
Mary K. Boudreaux et al; Identification of an Intrinsic Platelet Function Defect in Spitz Dogs; Journal of Veterinary Internal Medicine; vol. 8, No. 2; Mar.-Apr. 1994; pp. 93-98.
Barbara A. Steficek et al; A Primary Platelet Disorder of Consanguineous Simmental Cattle; Thrombosis Research 72; 1993; pp. 145-153.
Gene P. Searcy et al; Platelets from Bleeding S

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

CaIDAG-GEF1 gene mutations associated with thrombopathy in... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with CaIDAG-GEF1 gene mutations associated with thrombopathy in..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and CaIDAG-GEF1 gene mutations associated with thrombopathy in... will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-4209945

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.