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& Beckwith-Wiedemann Syndrome

p57. April 2 nd 2013. & Beckwith-Wiedemann Syndrome. Brandon Ballance. Beckwith-Wiedemann Syndrome. Risk of developing cancer : 7.5%. Genes Associated with BWS. CDKN1C. Genetic Imprinting. 1 in 13,700 Children . Only MATERNAL allele expressed!. CH 3. CH 3.

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& Beckwith-Wiedemann Syndrome

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  1. p57 April 2nd 2013 &Beckwith-Wiedemann Syndrome Brandon Ballance

  2. Beckwith-Wiedemann Syndrome Risk of developing cancer: 7.5%

  3. Genes Associated with BWS CDKN1C

  4. Genetic Imprinting 1 in 13,700 Children OnlyMATERNAL alleleexpressed! CH3 CH3

  5. Familial Inheritance Pattern Mutated maternal allele = BWS Mutated paternal allele = CARRIER UPD

  6. What Does the Protein Do? CDKN1C p57 (KIP2) G1 Cyclin-CDK Complexes p57 = TUMOR SUPPRESSOR

  7. Model Organism: Knockout Mice NOtumors developed

  8. Grafted Prostates from Null Mice Tumors!

  9. Works Cited: "Beckwith-Wiedemann Syndrome." Humpath.com. N.p., 17 Sept. 2003. Web. <http://www.humpath.com/spip.php?article824>. Hatada, I., Mukai, T. Genomic imprinting of p57(KIP2), a cyclin-dependent kinase inhibitor, in mouse. Nature Genet. 11: 204- 206, 1995. Jin RJ, et al. Down-regulation of p57(Kip2) induces prostate cancer in the mouse. Cancer Res. 2008;68:3601-3608. Lee, M.-H., Reynisdottir, I., Massague, J. Cloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev. 9: 639-649, 1995. Pateras IS, Apostolopoulou K, Niforou K, Kotsinas A, Gorgoulis VG. p57KIP2: “Kip”ing the cell under control. Mol. Cancer Res. 2009;7:1902-1919. Pilu, Gianluigi. "The Global Library of Women’s Medicine." Ultrasound Atlas. The International Society of Ultrasound in Obstetrics & Gynecology, n.d. Web. <http://www.glowm.com/ultrasoundAtlas>. Sparago A., Russo S., Cerrato F., Ferraiuolo S., Castorina P., Selicorni A., Schwienbacher C., Negrini M., Ferrero G.B., Silengo M.C., et al. Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms’ tumour. Hum. Mol. Genet. 2007;16:254-264. TunsterSJ, Van De Pette M, John RM. Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome. DMM Disease Models and Mechanisms. 2011;4(6):814–821. "What Is Beckwith Wiedemann Syndrom?" Assisting Families and Individuals Affected with BWS. Beckwith Wiedemann Children's Assn of NZ (Inc), n.d. Web. <http://www.bwcanz.org/What-is-Beckwith-Wiedemann-Syndrome-.php>.

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