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Items: 18

1.
Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy
Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke, Michael Forster
BMC Med Genet. 2020; 21: 3. Published online 2020 Jan 3. doi: 10.1186/s12881-019-0941-5
PMCID:
PMC6942307
AbstractArticlePDF–1.1M
2.
Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients
Zanda Daneberga, Dace Berzina, Viktors Borosenko, Zita Krumina, Linda Kokaine-Sapovalova, Andris Gardovskis, Egija Berga-Svitina, Janis Gardovskis, Edvins Miklasevics
Medicina (Kaunas) 2019 Oct; 55(10): 612. Published online 2019 Sep 20. doi: 10.3390/medicina55100612
PMCID:
PMC6843383
AbstractArticlePDF–995K
3.
Current status of the genetic susceptibility in attenuated adenomatous polyposis
Víctor Lorca, Pilar Garre
World J Gastrointest Oncol. 2019 Dec 15; 11(12): 1101–1114. Published online 2019 Dec 15. doi: 10.4251/wjgo.v11.i12.1101
PMCID:
PMC6937445
AbstractArticlePDF–1.0M
4.
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing
Víctor Lorca, Daniel Rueda, Lorena Martín-Morales, María Jesús Fernández-Aceñero, Judith Grolleman, Carmen Poves, Patricia Llovet, Sandra Tapial, Vanesa García-Barberán, Julián Sanz, Pedro Pérez-Segura, Richarda M. de Voer, Eduardo Díaz-Rubio, Miguel de la Hoya, Trinidad Caldés, Pilar Garre
Sci Rep. 2019; 9: 9814. Published online 2019 Jul 8. doi: 10.1038/s41598-019-46403-5
PMCID:
PMC6614360
AbstractArticlePDF–1.3M
5.
Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors
Maria Łastowska, Joanna Trubicka, Agnieszka Karkucińska-Więckowska, Magdalena Kaleta, Magdalena Tarasińska, Marta Perek-Polnik, Anna Antonina Sobocińska, Bożenna Dembowska-Bagińska, Wiesława Grajkowska, Ewa Matyja
Brain Tumor Pathol. 2019; 36(1): 1–6. Published online 2018 Dec 6. doi: 10.1007/s10014-018-0331-2
PMCID:
PMC6514113
AbstractArticlePDF–1.0M
6.
Identification of Lynch syndrome risk variants in the Romanian population
Paul D. Iordache, Dana Mates, Bjarni Gunnarsson, Hannes P. Eggertsson, Patrick Sulem, Stefania Benonisdottir, Irma Eva Csiki, Stefan Rascu, Daniel Radavoi, Radu Ursu, Catalin Staicu, Violeta Calota, Angelica Voinoiu, Mariana Jinga, Gabriel Rosoga, Razvan Danau, Sorin Cristian Sima, Daniel Badescu, Nicoleta Suciu, Viorica Radoi, Ioan Nicolae Mates, Mihai Dobra, Camelia Nicolae, Sigrun Kristjansdottir, Jon G. Jonasson, Andrei Manolescu, Gudny Arnadottir, Brynjar Jensson, Aslaug Jonasdottir, Asgeir Sigurdsson, Louise le Roux, Hrefna Johannsdottir, Thorunn Rafnar, Bjarni V. Halldorsson, Viorel Jinga, Kari Stefansson
J Cell Mol Med. 2018 Dec; 22(12): 6068–6076. Published online 2018 Oct 16. doi: 10.1111/jcmm.13881
PMCID:
PMC6237568
AbstractArticlePDF–103K
7.
Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
Nirmala D. Sirisena, Nilaksha Neththikumara, Kalum Wetthasinghe, Vajira H.W. Dissanayake
Appl Transl Genom. 2016 Jun; 9: 33–36. Published online 2016 May 17. doi: 10.1016/j.atg.2016.05.003
PMCID:
PMC4911425
AbstractArticlePDF–186K
8.
Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing
Jeremy D.K. Parker, Yaoqing Shen, Erin Pleasance, Yvonne Li, Jacqueline E. Schein, Yongjun Zhao, Richard Moore, Joanna Wegrzyn-Woltosz, Kerry J. Savage, Andrew P. Weng, Randy D. Gascoyne, Steven Jones, Marco Marra, Janessa Laskin, Aly Karsan
Cold Spring Harb Mol Case Stud. 2016 Mar; 2(2): a000679. doi: 10.1101/mcs.a000679
PMCID:
PMC4849852
AbstractArticlePDF–1.1M
9.
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary
Janos Papp, Marietta Eva Kovacs, Zoltan Matrai, Enikő Orosz, Miklós Kásler, Anne-Lise Børresen-Dale, Edith Olah
Fam Cancer. 2016; 15: 85–97. Published online 2015 Oct 7. doi: 10.1007/s10689-015-9845-5
PMCID:
PMC4698287
AbstractArticlePDF–1.3M
10.
Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing
Ted Kalbfleisch, Pamela Brock, Angela Snow, Deborah Neklason, Gordon Gowans, Jon Klein
Version 1. F1000Res. 2015; 4: 170. Published online 2015 Jun 26. doi: 10.12688/f1000research.6636.1
PMCID:
PMC4505784
AbstractArticlePDF–2.2M
11.
Thymoquinone-induced conformational changes of PAK1 interrupt prosurvival MEK-ERK signaling in colorectal cancer
Chirine El-Baba, Vijayalakshmi Mahadevan, Fabian B Fahlbusch, Suma Mohan S, Tilman T Rau, Hala Gali-Muhtasib, Regine Schneider-Stock
Mol Cancer. 2014; 13: 201. Published online 2014 Aug 29. doi: 10.1186/1476-4598-13-201
PMCID:
PMC4158125
AbstractArticlePDF–2.2M
12.
Targeted Re-Sequencing Identified rs3106189 at the 5′ UTR of TAPBP and rs1052918 at the 3′ UTR of TCF3 to Be Associated with the Overall Survival of Colorectal Cancer Patients
Jiaofang Shao, Xiaoyan Lou, Jun Wang, Jing Zhang, Chen Chen, Dasong Hua, Fan Mo, Xu Han, Shu Zheng, Biaoyang Lin
PLoS One. 2013; 8(8): e70307. Published online 2013 Aug 5. doi: 10.1371/journal.pone.0070307
PMCID:
PMC3734069
AbstractArticlePDF–559K
13.
Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis
Renate Marquis-Nicholson, Elaine Doherty, Jennifer M. Love, Chuan-Ching Lan, Alice M. George, Anthony Thrush, Donald R. Love
Sultan Qaboos Univ Med J. 2013 Feb; 13(1): 69–79. Published online 2013 Feb 27. doi: 10.12816/0003198
PMCID:
PMC3616803
AbstractArticlePDF–965K
14.
DomPep—A General Method for Predicting Modular Domain-Mediated Protein-Protein Interactions
Lei Li, Bing Zhao, Jun Du, Kaizhong Zhang, Charles X. Ling, Shawn Shun-Cheng Li
PLoS One. 2011; 6(10): e25528. Published online 2011 Oct 7. doi: 10.1371/journal.pone.0025528
PMCID:
PMC3189207
AbstractArticlePDF–1.0M
15.
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
David P Minde, Zeinab Anvarian, Stefan GD Rüdiger, Madelon M Maurice
Mol Cancer. 2011; 10: 101. Published online 2011 Aug 22. doi: 10.1186/1476-4598-10-101
PMCID:
PMC3170638
AbstractArticlePDF–1.3M
16.
The Ubiquitin-Specific Protease USP34 Regulates Axin Stability and Wnt/β-Catenin Signaling
Tony T. H. Lui, Celine Lacroix, Syed M. Ahmed, Seth J. Goldenberg, Craig A. Leach, Avais M. Daulat, Stephane Angers
Mol Cell Biol. 2011 May; 31(10): 2053–2065. doi: 10.1128/MCB.01094-10
PMCID:
PMC3133363
AbstractArticlePDF–4.0M
17.
Familial adenomatous polyposis
Elizabeth Half, Dani Bercovich, Paul Rozen
Orphanet J Rare Dis. 2009; 4: 22. Published online 2009 Oct 12. doi: 10.1186/1750-1172-4-22
PMCID:
PMC2772987
AbstractArticlePDF–1.3M
18.
Amino acid runs in eukaryotic proteomes and disease associations
Samuel Karlin, Luciano Brocchieri, Aviv Bergman, Jan Mrázek, Andrew J. Gentles
Proc Natl Acad Sci U S A. 2002 Jan 8; 99(1): 333–338. doi: 10.1073/pnas.012608599
PMCID:
PMC117561
AbstractArticlePDF–102K

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