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Items: 1 to 20 of 55

1.

KinMutBase: a registry of disease-causing mutations in protein kinase domains.

Ortutay C, Väliaho J, Stenberg K, Vihinen M.

Hum Mutat. 2005 May;25(5):435-42.

PMID:
15832311
2.

KinMutBase, a database of human disease-causing protein kinase mutations.

Stenberg KA, Riikonen PT, Vihinen M.

Nucleic Acids Res. 1999 Jan 1;27(1):362-4.

3.

KinMutBase, a database of human disease-causing protein kinase mutations.

Stenberg KA, Riikonen PT, Vihinen M.

Nucleic Acids Res. 2000 Jan 1;28(1):369-71.

4.

BTKbase: the mutation database for X-linked agammaglobulinemia.

Väliaho J, Smith CI, Vihinen M.

Hum Mutat. 2006 Dec;27(12):1209-17. Review.

PMID:
16969761
5.

Extraction of human kinase mutations from literature, databases and genotyping studies.

Krallinger M, Izarzugaza JM, Rodriguez-Penagos C, Valencia A.

BMC Bioinformatics. 2009 Aug 27;10 Suppl 8:S1. doi: 10.1186/1471-2105-10-S8-S1.

6.

Immunodeficiency mutation databases (IDbases).

Piirilä H, Väliaho J, Vihinen M.

Hum Mutat. 2006 Dec;27(12):1200-8. Review.

PMID:
17004234
7.
9.

An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D.

Izarzugaza JM, Baresic A, McMillan LE, Yeats C, Clegg AB, Orengo CA, Martin AC, Valencia A.

BMC Bioinformatics. 2009 Aug 27;10 Suppl 8:S5. doi: 10.1186/1471-2105-10-S8-S5.

10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
11.

Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW.

Hum Mutat. 2009 Mar;30(3):446-53. doi: 10.1002/humu.20915.

PMID:
19085939
12.

The Homeodomain Resource: 2003 update.

Banerjee-Basu S, Moreland T, Hsu BJ, Trout KL, Baxevanis AD.

Nucleic Acids Res. 2003 Jan 1;31(1):304-6.

13.

Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.

Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ.

Thromb Haemost. 2009 Aug;102(2):287-301. doi: 10.1160/TH09-01-0044.

PMID:
19652879
14.

[Latent periodicity of serine-threonine and tyrosine protein kinases and another protein families].

Laskin AA, Kudriashev NA, Skriabin KG, Korotkov EV.

Mol Biol (Mosk). 2005 May-Jun;39(3):420-36. Russian.

PMID:
15981572
15.

MoKCa database--mutations of kinases in cancer.

Richardson CJ, Gao Q, Mitsopoulous C, Zvelebil M, Pearl LH, Pearl FM.

Nucleic Acids Res. 2009 Jan;37(Database issue):D824-31. doi: 10.1093/nar/gkn832. Epub 2008 Nov 5.

16.

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B.

Hum Mutat. 2006 Aug;27(8):760-9.

PMID:
16791849
17.

Protein kinase resource: an integrated environment for phosphorylation research.

Niedner RH, Buzko OV, Haste NM, Taylor A, Gribskov M, Taylor SS.

Proteins. 2006 Apr 1;63(1):78-86.

PMID:
16435372
18.

The Lactamase Engineering Database: a critical survey of TEM sequences in public databases.

Thai QK, Bös F, Pleiss J.

BMC Genomics. 2009 Aug 21;10:390. doi: 10.1186/1471-2164-10-390.

19.
20.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

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