Human Genetics Journal Club

The Human Genetics Journal Club meets weekly on Fridays, from 4-5pm in A215 Crabtree Hall. Specific information regarding the presenters, topics, and dates is listed below (along with links to the relevant articles, when available). This web page will continue to be updated on a regular basis as more people sign up for available slots and make known their selection of articles, so check back here frequently. Come enjoy an active discussion of some of the most current topics in human genetics!

Schedule for Fall 2009


04 September 2009 • A Genome-wide In Vitro Bacterial-Infection Screen Reveals Human Variation in the Host Response Associated with Inflammatory Disease.
Ko et al. AJHG 2009 M Michael Barmada

11 September 2009 • No journal club - Pymatuning


18 September 2009 • Role of Bcl-2 family proteins in a non-apoptotic programmed cell death dependent on autophagy genes
Nature Cell Biology, 2004 Deniz Ugur

25 September 2009 • Introducing sense into nonsense in treatments of human genetic diseases Trends in Genetics, Volume 24, Issue 11, November 2008, Pages 552-563 Liat Linde, Batsheva Kerem
Lauren Hudak -

02 October 2009 • Rhes, a Striatal Specific Protein, Mediates Mutant-Huntingtin Cytotoxicity Srinivasa Subramaniam, Katherine M. Sixt, Roxanne Barrow, Solomon H. Snyder* Science 324, 1327 (2009
Betsy Gettig

09 October 2009 • X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women Roman A. Siddiqui1, 8, Corresponding Author Contact Information, E-mail The Corresponding Author, Ulrike Sauermann2, 8, Janine Altm�ller3, Elfriede Fritzer4, Michael Nothnagel4, Nina Dalibor3, Jacques Fellay5, Franz-Josef Kaup2, Christiane Stahl-Hennig2, Peter N�rnberg3, 6, 7, Michael Krawczak4 and Matthias Platzer1 The American Journal of Human Genetics 85(2) pp. 228 - 239
Madhav Sankunny

16 October 2009 • No journal club - Science 2009


23 October 2009 • No journal club - ASHG


30 October 2009 • Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease, Dong-Chuan Guo1, 10, Christina L. Papke1, 10, Van Tran-Fadulu1, Ellen S. Regalado1, Nili Avidan1, Ralph Jay Johnson1, Dong H. Kim1, Hariyadarshi Pannu1, Marcia C. Willing2, Elizabeth Sparks3, Reed E. Pyeritz4, Michael N. Singh5, Ronald L. Dalman6, James C. Grotta1, Ali J. Marian1, 7, Eric A. Boerwinkle1, 7, Lorraine Q. Frazier1, Scott A. LeMaire7, 8, Joseph S. Coselli7, 8, Anthony L. Estrera1, Hazim J. Safi1, Sudha Veeraraghavan1, Donna M. Muzny8, David A. Wheeler8, James T. Willerson7, Robert K. Yu9, Sanjay S. Shete9, Steven E. Scherer8, C.S. Raman1, L. Maximilian Buja1 and Dianna M. Milewicz1, American Journal of Human GeneticsMay 2009, Pages 617-627
Allison Kuipers

06 November 2009 • Sun, Yehong, Li, Tiyuan, Ma, Kewei, Tian, Zhongkai, Zhu, Ying, Chen, Fuqiang and Hu, Gang(2009)'The Impacts of ERCC1 Gene Exon VIII Alternative Splicing on Cisplatin-Resistance in Ovarian Cancer Cells',Cancer Investigation
Advaitha Madireddy

13 November 2009 • Acetylation Targets Mutant Huntingtin to Autophagosomes for Degradation Hyunkyung Jeong1, 8, Florian Then1, 8, Thomas J. Melia Jr.3, Joseph R. Mazzulli1, Libin Cui1, Jeffrey N. Savas4, 5, Cindy Voisine2, 9, Paolo Paganetti6, Naoko Tanese4, Anne C. Hart2, Ai Yamamoto7 and Dimitri Krainc, Cell, April 2009
Heejung Kang

20 November 2009 • Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer Laufey Amundadottir1,2,55*, Peter Kraft3,4,55, Rachael Z Stolzenberg-Solomon2,55, Charles S Fuchs5,6,55, Gloria M Petersen7, Alan A Arslan8�10, H Bas Bueno-de-Mesquita11, Myron Gross12, Kathy Helzlsouer13, Eric J Jacobs14, Andrea LaCroix15, Wei Zheng16, Demetrius Albanes2, William Bamlet7, Christine D Berg17, Franco Berrino18, Sheila Bingham19, Julie E Buring20,21, Paige M Bracci22, Federico Canzian23, Franc ̧oise Clavel-Chapelon24, Sandra Clipp25, Michelle Cotterchio26, Mariza de Andrade7, Eric J Duell27, John W Fox Jr28, Steven Gallinger29, J Michael Gaziano30, Edward L Giovannucci3,6,31, Michael Goggins32, Carlos A Gonza ́lez33, Go ̈ran Hallmans34, Susan E Hankinson3,6, Manal Hassan35, Elizabeth A Holly22, David J Hunter3,6, Amy Hutchinson2,36, Rebecca Jackson37, Kevin B Jacobs2,36,38, Mazda Jenab27, Rudolf Kaaks23, Alison P Klein39,40, Charles Kooperberg15, Robert C Kurtz41, Donghui Li35, Shannon M Lynch42, Margaret Mandelson15,43, Robert R McWilliams44, Julie B Mendelsohn2, Dominique S Michaud3,45, Sara H Olson46, Kim Overvad47, Alpa V Patel14, Petra H M Peeters45,48, Aleksandar Rajkovic49, Elio Riboli45, Harvey A Risch50, Xiao-Ou Shu16, Gilles Thomas2, Geoffrey S Tobias2, Dimitrios Trichopoulos3,51, Stephen K Van Den Eeden52, Jarmo Virtamo53, Jean Wactawski-Wende54, Brian M Wolpin5,6, Herbert Yu50, Kai Yu2, Anne Zeleniuch-Jacquotte9,10, Stephen J Chanock1,2,55, Patricia Hartge2,55 & Robert N Hoover2,55 Nature Genetics 41, 986-990
John Shaffer

27 November 2009 • No journal club - Thanksgiving


04 December 2009 • Jatinder Singh


11 December 2009 • Lucia Mazzacurati

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