These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 19267389)

  • 1. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
    Thusberg J; Vihinen M
    Hum Mutat; 2009 May; 30(5):703-14. PubMed ID: 19267389
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
    Thusberg J; Vihinen M
    Hum Mutat; 2006 Dec; 27(12):1230-43. PubMed ID: 16986121
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prediction of deleterious functional effects of amino acid mutations using a library of structure-based function descriptors.
    Herrgard S; Cammer SA; Hoffman BT; Knutson S; Gallina M; Speir JA; Fetrow JS; Baxter SM
    Proteins; 2003 Dec; 53(4):806-16. PubMed ID: 14635123
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The structural basis of hyper IgM deficiency - CD40L mutations.
    Thusberg J; Vihinen M
    Protein Eng Des Sel; 2007 Mar; 20(3):133-41. PubMed ID: 17307885
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
    Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
    Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Computational modeling of protein mutant stability: analysis and optimization of statistical potentials and structural features reveal insights into prediction model development.
    Parthiban V; Gromiha MM; Abhinandan M; Schomburg D
    BMC Struct Biol; 2007 Aug; 7():54. PubMed ID: 17705837
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Missense mutations in transmembrane domains of proteins: phenotypic propensity of polar residues for human disease.
    Partridge AW; Therien AG; Deber CM
    Proteins; 2004 Mar; 54(4):648-56. PubMed ID: 14997561
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.
    Berry FB; Tamimi Y; Carle MV; Lehmann OJ; Walter MA
    Hum Mol Genet; 2005 Sep; 14(18):2619-27. PubMed ID: 16081467
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Compensated pathogenic deviations: analysis of structural effects.
    Baresić A; Hopcroft LE; Rogers HH; Hurst JM; Martin AC
    J Mol Biol; 2010 Feb; 396(1):19-30. PubMed ID: 19900462
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
    Kanai K; Yoshida S; Hirose S; Oguni H; Kuwabara S; Sawai S; Hiraga A; Fukuma G; Iwasa H; Kojima T; Kaneko S
    J Med Genet; 2009 Oct; 46(10):671-9. PubMed ID: 19586930
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
    Baux D; Larrieu L; Blanchet C; Hamel C; Ben Salah S; Vielle A; Gilbert-Dussardier B; Holder M; Calvas P; Philip N; Edery P; Bonneau D; Claustres M; Malcolm S; Roux AF
    Hum Mutat; 2007 Aug; 28(8):781-9. PubMed ID: 17405132
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A phylogenetic approach to assessing the significance of missense mutations in disease genes.
    Santibáñez Koref MF; Gangeswaran R; Santibáñez Koref IP; Shanahan N; Hancock JM
    Hum Mutat; 2003 Jul; 22(1):51-8. PubMed ID: 12815593
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.
    Friedrich A; Garnier N; Gagnière N; Nguyen H; Albou LP; Biancalana V; Bettler E; Deléage G; Lecompte O; Muller J; Moras D; Mandel JL; Toursel T; Moulinier L; Poch O
    Hum Mutat; 2010 Feb; 31(2):127-35. PubMed ID: 19921752
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Structural assessment of single amino acid mutations: application to TP53 function.
    Yip YL; Zoete V; Scheib H; Michielin O
    Hum Mutat; 2006 Sep; 27(9):926-37. PubMed ID: 16917930
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Importance of mutant position in Ramachandran plot for predicting protein stability of surface mutations.
    Gromiha MM; Oobatake M; Kono H; Uedaira H; Sarai A
    Biopolymers; 2002 Aug; 64(4):210-20. PubMed ID: 12115138
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Performance of protein stability predictors.
    Khan S; Vihinen M
    Hum Mutat; 2010 Jun; 31(6):675-84. PubMed ID: 20232415
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.
    Sawyer GM; Clark AR; Robertson SP; Sutherland-Smith AJ
    J Mol Biol; 2009 Jul; 390(5):1030-47. PubMed ID: 19505475
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Incorporating the amino acid properties to predict the significance of missense mutations.
    Lee TC; Lee AS; Li KB
    Amino Acids; 2008 Oct; 35(3):615-26. PubMed ID: 18415037
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Why do mutations cause disease--a protein chemical perspective].
    Kleppe R; Knappskog PM; Haavik J
    Tidsskr Nor Laegeforen; 2001 Sep; 121(23):2717-20. PubMed ID: 11699380
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.