My NCBISign In
The amino-acid mutational spectrum of human genetic disease
Dennis Vitkup, Chris Sander, George M Church
Genome Biol. 2003; 4(11): R72. Published online 2003 October 30. doi: 10.1186/gb-2003-4-11-r72
PMCID:
PMC329120
Abstract Full Text PDF–569K Supplementary Material

Is Cited by the Following 25 Articles in this Archive:

Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain
Claudia Scotti, Carla Olivieri, Laura Boeri, Cecilia Canzonieri, Federica Ornati, Elisabetta Buscarini, Fabio Pagella, Cesare Danesino
PLoS One. 2011; 6(10): e26431. Published online 2011 October 18. doi: 10.1371/journal.pone.0026431
PMCID:
PMC3196573
Abstract Full Text PDF–925K Supplementary Material
Phylomedicine: An evolutionary telescope to explore and diagnose the universe of disease mutations
Sudhir Kumar, Joel T. Dudley, Alan Filipski, Li Liu
Trends Genet. Author manuscript; available in PMC 2012 February 6.
Published in final edited form as: Trends Genet. 2011 September; 27(9): 377–386. Published online 2011 July 20. doi: 10.1016/j.tig.2011.06.004
PMCID:
PMC3272884
Abstract Full Text PDF–988K
Characterization of pathogenic germline mutations in human Protein Kinases
Jose MG Izarzugaza, Lisa EM Hopcroft, Anja Baresic, Christine A Orengo, Andrew CR Martin, Alfonso Valencia
BMC Bioinformatics. 2011; 12(Suppl 4): S1. Published online 2011 July 5. doi: 10.1186/1471-2105-12-S4-S1
PMCID:
PMC3194193
Abstract Full Text PDF–738K Supplementary Material
Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
Elena Burashnikov, Ryan Pfeiffer, Héctor Barajas-Martinez, Eva Delpón, Dan Hu, Mayurika Desai, Martin Borggrefe, Michel Häissaguerre, Ronald Kanter, Guido D. Pollevick, Alejandra Guerchicoff, Ruben Laiño, Mark Marieb, Koonlawee Nademanee, Gi-Byoung Nam, Roberto Robles, Rainer Schimpf, Dwight D. Stapleton, Sami Viskin, Stephen Winters, Christian Wolpert, Samuel Zimmern, Christian Veltmann, Charles Antzelevitch
Heart Rhythm. Author manuscript; available in PMC 2011 December 1.
Published in final edited form as: Heart Rhythm. 2010 December; 7(12): 1872–1882. Published online 2010 October 14. doi: 10.1016/j.hrthm.2010.08.026
PMCID:
PMC2999985
Abstract Full Text PDF–2.1M
Correlated Mutations: A Hallmark of Phenotypic Amino Acid Substitutions
Andreas Kowarsch, Angelika Fuchs, Dmitrij Frishman, Philipp Pagel
PLoS Comput Biol. 2010 September; 6(9): e1000923. Published online 2010 September 16. doi: 10.1371/journal.pcbi.1000923
PMCID:
PMC2940720
Abstract Full Text PDF–1.1M Supplementary Material
Monoclonal Antibodies Specific for Disease-Associated Point-Mutants: Lamin A/C R453W and R482W
Marko Roblek, Stefan Schüchner, Veronika Huber, Katrin Ollram, Sylvia Vlcek-Vesely, Roland Foisner, Manfed Wehnert, Egon Ogris
PLoS One. 2010; 5(5): e10604. Published online 2010 May 13. doi: 10.1371/journal.pone.0010604
PMCID:
PMC2869350
Abstract Full Text PDF–2.8M Supplementary Material
Mutation@A Glance: An Integrative Web Application for Analysing Mutations from Human Genetic Diseases
Atsushi Hijikata, Rajesh Raju, Shivakumar Keerthikumar, Subhashri Ramabadran, Lavanya Balakrishnan, Suresh Kumar Ramadoss, Akhilesh Pandey, Sujatha Mohan, Osamu Ohara
DNA Res. 2010 June; 17(3): 197–208. Published online 2010 April 1. doi: 10.1093/dnares/dsq010
PMCID:
PMC2885273
Abstract Full Text PDF–563K Supplementary Material
Molecular genetic characteristics of X-linked retinoschisis in Koreans
So Yeon Kim, Hyun Soo Ko, Young Suk Yu, Jeong-Min Hwang, Jong Joo Lee, Sung Yeun Kim, Ji Yeon Kim, Moon-Woo Seong, Kyu Hyung Park, Sung Sup Park
Mol Vis. 2009; 15: 833–843. Published online 2009 April 23.
PMCID:
PMC2672147
Abstract Full Text PDF–5.3M
Transglutaminase-1 (TGM1) Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1
Matthew L. Herman, Sharifeh Farasat, Peter J. Steinbach, Ming-Hui Wei, Ousmane Toure, Philip Fleckman, Patrick Blake, Sherri J. Bale, Jorge R. Toro
Hum Mutat. Author manuscript; available in PMC 2011 December 20.
Published in final edited form as: Hum Mutat. 2009 April; 30(4): 537–547. doi: 10.1002/humu.20952
PMCID:
PMC3243309
Abstract Full Text PDF–2.0M Supplementary Material
Prediction of disease-related mutations affecting protein localization
Kirsti Laurila, Mauno Vihinen
BMC Genomics. 2009; 10: 122. Published online 2009 March 23. doi: 10.1186/1471-2164-10-122
PMCID:
PMC2680896
Abstract Full Text PDF–837K Supplementary Material
Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
S Farasat, M-H Wei, M Herman, D J Liewehr, S M Steinberg, S J Bale, P Fleckman, J R Toro
J Med Genet. Author manuscript; available in PMC 2011 February 24.
Published in final edited form as: J Med Genet. 2009 February; 46(2): 103–111. Published online 2008 October 23. doi: 10.1136/jmg.2008.060905
PMCID:
PMC3044481
Abstract Full Text PDF–699K
Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis
Aaron J. Knox, Christine Graham, John Bleskan, Gary Brodsky, David Patterson
Gene. Author manuscript; available in PMC 2010 January 15.
Published in final edited form as: Gene. 2009 January 15; 429(1-2): 23–30. Published online 2008 October 21. doi: 10.1016/j.gene.2008.10.007
PMCID:
PMC2643067
Abstract Full Text PDF–891K Supplementary Material
Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations
Heather A Jackson, Eric A Accili
BMC Evol Biol. 2008; 8: 188. Published online 2008 June 30. doi: 10.1186/1471-2148-8-188
PMCID:
PMC2483723
Abstract Full Text PDF–1.2M Supplementary Material
Sequence analyses of presenilin mutations linked to familial Alzheimer’s disease
Sun Don Kim, Jinoh Kim
Cell Stress Chaperones. 2008 December; 13(4): 401–412. Published online 2008 May 20. doi: 10.1007/s12192-008-0046-0
PMCID:
PMC2673935
Abstract Full Text PDF–917K
Functional Characterization of Variations on Regulatory Motifs
Lapidot Michal, Orna Mizrahi-Man, Yitzhak Pilpel
PLoS Genet. 2008 March; 4(3): e1000018. Published online 2008 March 7. doi: 10.1371/journal.pgen.1000018
Correction in:
PLoS Genet. 2008 June; 4(6): 10.1371/annotation/99662172-8f18-4bfb-ad0f-79ed1d69fffd.
PMCID:
PMC2265473
Abstract Full Text PDF–370K Supplementary Material Correction
Protein interactions in human genetic diseases
Benjamin Schuster-Böckler, Alex Bateman
Genome Biol. 2008; 9(1): R9. Published online 2008 January 16. doi: 10.1186/gb-2008-9-1-r9
PMCID:
PMC2395246
Abstract Full Text PDF–1.4M Supplementary Material
Spectrum of disease-causing mutations in protein secondary structures
Sofia Khan, Mauno Vihinen
BMC Struct Biol. 2007; 7: 56. Published online 2007 August 29. doi: 10.1186/1472-6807-7-56
PMCID:
PMC1995201
Abstract Full Text PDF–732K Supplementary Material
Butyrylcholinesterase attenuates amyloid fibril formation in vitro
Sophia Diamant, Erez Podoly, Assaf Friedler, Hagai Ligumsky, Oded Livnah, Hermona Soreq
Proc Natl Acad Sci U S A. 2006 June 6; 103(23): 8628–8633. Published online 2006 May 26. doi: 10.1073/pnas.0602922103
PMCID:
PMC1482631
Abstract Full Text PDF–1.5M
Predicting deleterious nsSNPs: an analysis of sequence and structural attributes
Richard J Dobson, Patricia B Munroe, Mark J Caulfield, Mansoor AS Saqi
BMC Bioinformatics. 2006; 7: 217. Published online 2006 April 21. doi: 10.1186/1471-2105-7-217
PMCID:
PMC1489951
Abstract Full Text PDF–299K
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
Ewy Mathe, Magali Olivier, Shunsuke Kato, Chikashi Ishioka, Pierre Hainaut, Sean V. Tavtigian
Nucleic Acids Res. 2006; 34(5): 1317–1325. Published online 2006 March 6. doi: 10.1093/nar/gkj518
PMCID:
PMC1390679
Abstract Full Text PDF–617K
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
Jonathan C. Cohen, Alexander Pertsemlidis, Saleemah Fahmi, Sophie Esmail, Gloria L. Vega, Scott M. Grundy, Helen H. Hobbs
Proc Natl Acad Sci U S A. 2006 February 7; 103(6): 1810–1815. Published online 2006 January 31. doi: 10.1073/pnas.0508483103
PMCID:
PMC1413637
Abstract Full Text PDF–710K Supplementary Material
The Personal Genome Project
G M Church
Mol Syst Biol. 2005; 1: 2005.0030. Published online 2005 December 13. doi: 10.1038/msb4100040
PMCID:
PMC1681452
Full Text PDF–72K
Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population
Khalid K. Alharbi, Mohammed A. Aldahmesh, Emmanuel Spanakis, Lema Haddad, Roslyn A. Whittall, Xiao-he Chen, Hamid Rassoulian, Matt J. Smith, Julie Sillibourne, Nicola J. Ball, Nikki J. Graham, Patricia J. Briggs, Iain A. Simpson, David I.W. Phillips, Deborah A. Lawlor, Shu Ye, Stephen E. Humphries, Cyrus Cooper, George Davey Smith, Shah Ebrahim, Diana M. Eccles, Ian N.M. Day
Genome Res. 2005 July; 15(7): 967–977. doi: 10.1101/gr.3313405
PMCID:
PMC1172041
Abstract Full Text PDF–667K
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
Igor Splawski, Katherine W. Timothy, Niels Decher, Pradeep Kumar, Frank B. Sachse, Alan H. Beggs, Michael C. Sanguinetti, Mark T. Keating
Proc Natl Acad Sci U S A. 2005 June 7; 102(23): 8089–8096. Published online 2005 April 29. doi: 10.1073/pnas.0502506102
PMCID:
PMC1149428
Abstract Full Text PDF–923K
Homeodomain Revisited: a Lesson from Disease-causing Mutations
Young-In Chi
Hum Genet. Author manuscript; available in PMC 2006 September 27.
Published in final edited form as: Hum Genet. 2005 May; 116(6): 433–444. Published online 2005 February 23. doi: 10.1007/s00439-004-1252-1
PMCID:
PMC1579204
Abstract Full Text PDF–327K
You are here: NCBI > Literature > PubMed Central (PMC)
Write to the Help Desk