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Items: 1 to 20 of 75

1.

Widespread macromolecular interaction perturbations in human genetic disorders.

Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovács IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barabási AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M.

Cell. 2015 Apr 23;161(3):647-660. doi: 10.1016/j.cell.2015.04.013.

2.

Edgetic perturbation models of human inherited disorders.

Zhong Q, Simonis N, Li QR, Charloteaux B, Heuze F, Klitgord N, Tam S, Yu H, Venkatesan K, Mou D, Swearingen V, Yildirim MA, Yan H, Dricot A, Szeto D, Lin C, Hao T, Fan C, Milstein S, Dupuy D, Brasseur R, Hill DE, Cusick ME, Vidal M.

Mol Syst Biol. 2009;5:321. doi: 10.1038/msb.2009.80. Epub 2009 Nov 3.

3.

Cancer missense mutations alter binding properties of proteins and their interaction networks.

Nishi H, Tyagi M, Teng S, Shoemaker BA, Hashimoto K, Alexov E, Wuchty S, Panchenko AR.

PLoS One. 2013 Jun 14;8(6):e66273. doi: 10.1371/journal.pone.0066273. Print 2013.

4.

Molecular mechanisms of disease-causing missense mutations.

Stefl S, Nishi H, Petukh M, Panchenko AR, Alexov E.

J Mol Biol. 2013 Nov 1;425(21):3919-36. doi: 10.1016/j.jmb.2013.07.014. Epub 2013 Jul 16. Review.

5.

Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle.

Guo Y, Wei X, Das J, Grimson A, Lipkin SM, Clark AG, Yu H.

Am J Hum Genet. 2013 Jul 11;93(1):78-89. doi: 10.1016/j.ajhg.2013.05.022. Epub 2013 Jun 20.

6.

Disease genetics: Network effects of disease mutations.

Burgess DJ.

Nat Rev Genet. 2015 Jun;16(6):317. doi: 10.1038/nrg3957. No abstract available.

PMID:
25982168
7.

Protein-protein interactions and networks: forward and reverse edgetics.

Charloteaux B, Zhong Q, Dreze M, Cusick ME, Hill DE, Vidal M.

Methods Mol Biol. 2011;759:197-213. doi: 10.1007/978-1-61779-173-4_12.

PMID:
21863489
8.

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H.

Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC.

9.

Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.

Taipale M.

Biochem Cell Biol. 2019 Feb;97(1):46-57. doi: 10.1139/bcb-2018-0007. Epub 2018 Apr 25. Review.

PMID:
29693415
10.

Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL.

PLoS One. 2014 Apr 9;9(4):e94338. doi: 10.1371/journal.pone.0094338. eCollection 2014.

11.

Investigating the linkage between disease-causing amino acid variants and their effect on protein stability and binding.

Peng Y, Alexov E.

Proteins. 2016 Feb;84(2):232-9. doi: 10.1002/prot.24968. Epub 2016 Jan 11.

12.

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV.

Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669.

13.

mCSM: predicting the effects of mutations in proteins using graph-based signatures.

Pires DE, Ascher DB, Blundell TL.

Bioinformatics. 2014 Feb 1;30(3):335-42. doi: 10.1093/bioinformatics/btt691. Epub 2013 Nov 26.

14.

Mechanisms of pathogenicity in human MSH2 missense mutants.

Ollila S, Dermadi Bebek D, Jiricny J, Nyström M.

Hum Mutat. 2008 Nov;29(11):1355-63. doi: 10.1002/humu.20893.

PMID:
18951462
15.

Rare variants in XRCC2 as breast cancer susceptibility alleles.

Hilbers FS, Wijnen JT, Hoogerbrugge N, Oosterwijk JC, Collee MJ, Peterlongo P, Radice P, Manoukian S, Feroce I, Capra F, Couch FJ, Wang X, Guidugli L, Offit K, Shah S, Campbell IG, Thompson ER, James PA, Trainer AH, Gracia J, Benitez J, van Asperen CJ, Devilee P.

J Med Genet. 2012 Oct;49(10):618-20. doi: 10.1136/jmedgenet-2012-101191.

PMID:
23054243
16.

One- plus two-hybrid system for the efficient selection of missense mutant alleles defective in protein-protein interactions.

Kim JY, Park OG, Lee YC.

Methods Mol Biol. 2012;812:209-23. doi: 10.1007/978-1-61779-455-1_12.

PMID:
22218862
17.

Characterization of missense alleles of the glial cells missing gene of Drosophila.

Jones BW.

Genesis. 2014 Oct;52(10):864-9. doi: 10.1002/dvg.22801. Epub 2014 Jul 21.

PMID:
25044731
18.

Missing heritability of common diseases and treatments outside the protein-coding exome.

Sadee W, Hartmann K, Seweryn M, Pietrzak M, Handelman SK, Rempala GA.

Hum Genet. 2014 Oct;133(10):1199-215. doi: 10.1007/s00439-014-1476-7. Epub 2014 Aug 9. Review. Erratum in: Hum Genet. 2015 May;134(5):509.

19.

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

Wei X, Das J, Fragoza R, Liang J, Bastos de Oliveira FM, Lee HR, Wang X, Mort M, Stenson PD, Cooper DN, Lipkin SM, Smolka MB, Yu H.

PLoS Genet. 2014 Dec 11;10(12):e1004819. doi: 10.1371/journal.pgen.1004819. eCollection 2014 Dec.

20.

Protein interactions: analysis using allele libraries.

Chappell TG, Gray PN.

Adv Biochem Eng Biotechnol. 2008;110:47-66. doi: 10.1007/10_2008_102. Review.

PMID:
18528666

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