U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 30

1.
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu
Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3
PMCID:
PMC6742646
AbstractArticlePDF–1.2M
2.
Direct Visualization of Asymmetric Adenine Nucleotide-Induced Conformational Changes in MutLα
Elizabeth J Sacho, Farid A Kadyrov, Paul Modrich, Thomas A Kunkel, Dorothy A Erie
Mol Cell. Author manuscript; available in PMC 2010 Feb 10.
Published in final edited form as: Mol Cell. 2008 Jan 18; 29(1): 112. doi: 10.1016/j.molcel.2007.10.030
PMCID:
PMC2820111
AbstractArticlePDF–2.2M
3.
HUMAN MISMATCH REPAIR: RECONSTITUTION OF A NICK-DIRECTED BIDIRECTIONAL REACTION
Nicoleta Constantin, Leonid Dzantiev, Farid A. Kadyrov, Paul Modrich
J Biol Chem. Author manuscript; available in PMC 2006 Dec 2.
Published in final edited form as: J Biol Chem. 2005 Dec 2; 280(48): 39752–39761. Published online 2005 Sep 27. doi: 10.1074/jbc.M509701200
PMCID:
PMC1435381
AbstractArticlePDF–818K
4.
Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree
Tahir Zaib, Chunhui Zhang, Komal Saleem, Lidan Xu, Qian Qin, Yusi Wang, Wei Ji, Hanif Khan, Hanfei Yu, Siqi Zhu, Wei Gao, Yun Huang, Xueyuan Jia, Jie Wu, Hongtao Song, Yanqiao Zhang, Wenjing Sun, Songbin Fu
Dis Markers. 2020; 2020: 8360841. Published online 2020 Jan 29. doi: 10.1155/2020/8360841
Retraction in:
Dis Markers. 2023; 2023: 9784325.
PMCID:
PMC7008259
AbstractArticle
5.
PMS2 germline mutation c.1577delA (p.Asp526Alafs∗69)-induced Lynch syndrome-associated endometrial cancer: A case report
Man-Hua Cui, Xi-Wen Zhang, Tong Yu, Dong-Wei Huang, Yan Jia
Medicine (Baltimore) 2019 Dec; 98(51): e18279. Published online 2019 Dec 20. doi: 10.1097/MD.0000000000018279
PMCID:
PMC6940048
AbstractArticlePDF–2.0M
6.
Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients
Kentaro Sugino, Ryo Tamura, Hirofumi Nakaoka, Nozomi Yachida, Manako Yamaguchi, Yutaro Mori, Kaoru Yamawaki, Kazuaki Suda, Tatsuya Ishiguro, Sosuke Adachi, Masanori Isobe, Masayuki Yamaguchi, Katsunori Kashima, Teiichi Motoyama, Ituro Inoue, Kosuke Yoshihara, Takayuki Enomoto
Sci Rep. 2019; 9: 17808. Published online 2019 Nov 28. doi: 10.1038/s41598-019-54116-y
PMCID:
PMC6882827
AbstractArticlePDF–1.5M
7.
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
Willemina R. Geurts‐Giele, Efraim H. Rosenberg, Anja van Rens, Monique E. van Leerdam, Winand N. Dinjens, Fonnet E. Bleeker
Mol Genet Genomic Med. 2019 Jul; 7(7): e00699. Published online 2019 May 18. doi: 10.1002/mgg3.699
PMCID:
PMC6625132
AbstractArticlePDF–547K
8.
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients
Rui Gong, Yuan He, Xiao-Yun Liu, Hai-Yun Wang, Li-Yue Sun, Xin-Hua Yang, Bin Li, Xin-Kai Cao, Zu-Lu Ye, Ling-Heng Kong, Da-Dong Zhang, Yu-Hong Li, Rui-Hua Xu, Jian-Yong Shao
Cancer Manag Res. 2019; 11: 3721–3739. Published online 2019 Apr 29. doi: 10.2147/CMAR.S193985
PMCID:
PMC6500872
AbstractArticlePDF–3.2M
9.
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms
Maeve A Lowery, Winston Wong, Emmet J Jordan, Jonathan W Lee, Yelena Kemel, Joseph Vijai, Diana Mandelker, Ahmet Zehir, Marinela Capanu, Erin Salo-Mullen, Angela G Arnold, Kenneth H Yu, Anna M Varghese, David P Kelsen, Robin Brenner, Erica Kaufmann, Vignesh Ravichandran, Semanti Mukherjee, Michael F Berger, David M Hyman, David S Klimstra, Ghassan K Abou-Alfa, Catherine Tjan, Christina Covington, Hannah Maynard, Peter J Allen, Gokce Askan, Steven D Leach, Christine A Iacobuzio-Donahue, Mark E Robson, Kenneth Offit, Zsofia K Stadler, Eileen M O’Reilly
J Natl Cancer Inst. 2018 Oct; 110(10): 1067–1074. Published online 2018 Feb 28. doi: 10.1093/jnci/djy024
PMCID:
PMC6186514
AbstractArticlePDF–708K
10.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
James Whitworth, Philip S. Smith, Jose-Ezequiel Martin, Hannah West, Andrea Luchetti, Faye Rodger, Graeme Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups, Chris Penkett, Rutendo Mapeta, Sofie Ashford, Karyn Megy, Hassan Shakeel, Munaza Ahmed, Julian Adlard, Julian Barwell, Carole Brewer, Ruth T. Casey, Ruth Armstrong, Trevor Cole, Dafydd Gareth Evans, Florentia Fostira, Lynn Greenhalgh, Helen Hanson, Alex Henderson, Jonathan Hoffman, Louise Izatt, Ajith Kumar, Ava Kwong, Fiona Lalloo, Kai Ren Ong, Joan Paterson, Soo-Mi Park, Rakefet Chen-Shtoyerman, Claire Searle, Lucy Side, Anne-Bine Skytte, Katie Snape, Emma R. Woodward, NIHR BioResource Rare Diseases Consortium, Marc D. Tischkowitz, Eamonn R. Maher
Am J Hum Genet. 2018 Jul 5; 103(1): 3–18. Published online 2018 Jun 14. doi: 10.1016/j.ajhg.2018.04.013
PMCID:
PMC6037202
AbstractArticlePDF–1.2M
11.
Cytogenetics data in adult men involved in the recycling of electronic wastes
Yanan Du, Yan Wang, Liqing Du, Chang Xu, Kaihua Ji, Jinhan Wang, Qiang Liu
Data Brief. 2018 Apr; 17: 1405–1416. Published online 2018 Feb 23. doi: 10.1016/j.dib.2018.02.051
PMCID:
PMC5854875
AbstractArticlePDF–786K
12.
Monitoring colorectal cancer following surgery using plasma circulating tumor DNA
Xiao Sun, Tanxiao Huang, Fangsheng Cheng, Kaibing Huang, Ming Liu, Wan He, Mingwei Li, Xiaoni Zhang, Mingyan Xu, Shifu Chen, Ligang Xia
Oncol Lett. 2018 Apr; 15(4): 4365–4375. Published online 2018 Jan 22. doi: 10.3892/ol.2018.7837
PMCID:
PMC5835910
AbstractArticlePDF–1.2M
13.
Identification of genetic variants for clinical management of familial colorectal tumors
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
BMC Med Genet. 2018; 19: 26. Published online 2018 Feb 20. doi: 10.1186/s12881-018-0533-9
PMCID:
PMC5819082
AbstractArticlePDF–637K
14.
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma Germline mutations in Ewing sarcoma
Andrew S Brohl, Rajesh Patidar, Clesson E Turner, Xinyu Wen, Young K Song, Jun S Wei, Kathleen A Calzone, Javed Khan
Genet Med. Author manuscript; available in PMC 2017 Aug 7.
Published in final edited form as: Genet Med. 2017 Aug; 19(8): 955–958. Published online 2017 Jan 26. doi: 10.1038/gim.2016.206
PMCID:
PMC5529247
AbstractArticlePDF–304K
15.
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebre-Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling
Fam Cancer. 2017; 16(2): 195–203. Published online 2016 Sep 30. doi: 10.1007/s10689-016-9934-0
PMCID:
PMC5357488
AbstractArticlePDF–437K
16.
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment
Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque
PeerJ. 2017; 5: e3046. Published online 2017 Feb 23. doi: 10.7717/peerj.3046
PMCID:
PMC5326550
AbstractArticlePDF–229K
17.
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Elisabeth Castellanos, Bernat Gel, Inma Rosas, Eva Tornero, Sheila Santín, Raquel Pluvinet, Juan Velasco, Lauro Sumoy, Jesús del Valle, Manuel Perucho, Ignacio Blanco, Matilde Navarro, Joan Brunet, Marta Pineda, Lidia Feliubadaló, Gabi Capellá, Conxi Lázaro, Eduard Serra
Sci Rep. 2017; 7: 39348. Published online 2017 Jan 4. doi: 10.1038/srep39348
PMCID:
PMC5209725
AbstractArticlePDF–2.3M
18.
Female Hormonal Factors and the Risk of Endometrial Cancer in Lynch Syndrome
Seyedeh Ghazaleh Dashti, Rowena Chau, Driss Ait Ouakrim, Daniel D. Buchanan, Mark Clendenning, Joanne P. Young, Ingrid M. Winship, Julie Arnold, Dennis J. Ahnen, Robert W. Haile, Graham Casey, Steven Gallinger, Stephen N. Thibodeau, Noralane M. Lindor, Loïc Le Marchand, Polly A. Newcomb, John D. Potter, John A. Baron, John L. Hopper, Mark A. Jenkins, Aung Ko Win
JAMA. Author manuscript; available in PMC 2016 Jan 7.
Published in final edited form as: JAMA. 2015 Jul 7; 314(1): 61–71. doi: 10.1001/jama.2015.6789
PMCID:
PMC4688894
AbstractArticlePDF–363K
19.
Candidate genes contributing to the aggressive phenotype of mantle cell lymphoma
Sarah E. Henson, Travis Morford, Mary-Pat Stein, Randolph Wall, Cindy S. Malone
Acta Histochem. Author manuscript; available in PMC 2015 Nov 24.
Published in final edited form as: Acta Histochem. 2011 Nov; 113(7): 729–742. Published online 2010 Dec 9. doi: 10.1016/j.acthis.2010.11.001
PMCID:
PMC4657859
AbstractArticlePDF–1.5M
20.
Genes transactivated by hepatitis C virus core protein, a microarray assay
Min Liu, Shu-Lin Zhang, Jun Cheng, Yan Liu, Lin Wang, Qing Shao, Jian Zhang, Shu-Mei Lin
World J Gastroenterol. 2005 Jun 14; 11(22): 3351–3356. Published online 2005 Jun 14. doi: 10.3748/wjg.v11.i22.3351
PMCID:
PMC4315987
AbstractArticlePDF–417K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center