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Pitfalls in the phylogenomic evaluation of human disease-causing mutations.

Wilkie AO.

J Biol. 2009;8(3):26. Epub 2009 Mar 24. Review.PMID: 19344491 [PubMed - indexed for MEDLINE]Related articlesFree article

Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers.

Finnerty JR, Mazza ME, Jezewski PA.

BMC Evol Biol. 2009 Jan 20;9:18.PMID: 19154605 [PubMed - indexed for MEDLINE]Related articlesFree article

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE.

Nat Genet. 1996 Aug;13(4):417-21.PMID: 8696335 [PubMed - indexed for MEDLINE]Related articles

A novel c.581C>T transition localized in a highly conserved homeobox sequence of MSX1: is it responsible for oligodontia?

Mostowska A, Biedziak B, Trzeciak WH.

J Appl Genet. 2006;47(2):159-64.PMID: 16682758 [PubMed - indexed for MEDLINE]Related articlesFree article

Homeodomain revisited: a lesson from disease-causing mutations.

Chi YI.

Hum Genet. 2005 May;116(6):433-44. Epub 2005 Feb 23. Review.PMID: 15726414 [PubMed - indexed for MEDLINE]Related articlesFree article

Absence of mutations in the homeodomain of the MSX1 gene in patients with hypodontia.

Scarel RM, Trevilatto PC, Di Hipólito O Jr, Camargo LE, Line SR.

Am J Med Genet. 2000 Jun 19;92(5):346-9.PMID: 10861665 [PubMed - indexed for MEDLINE]Related articles

Structural studies of the Msx-1 homeodomain-DNA complex I.

DeWees S, Geiger JH.

Acta Crystallogr D Biol Crystallogr. 1999 Dec;55(Pt 12):2039-40.PMID: 10666584 [PubMed - indexed for MEDLINE]Related articles

Mutations in the human homeobox MSX1 gene in the congenital lack of permanent teeth.

Pawlowska E, Janik-Papis K, Wisniewska-Jarosinska M, Szczepanska J, Blasiak J.

Tohoku J Exp Med. 2009 Apr;217(4):307-12.PMID: 19346736 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of Msx1 and Msx2 transactivation function in the context of the heat shock 70 (Hspa1b) gene promoter.

Zhuang F, Nguyen MP, Shuler C, Liu YH.

Biochem Biophys Res Commun. 2009 Apr 3;381(2):241-6. Epub 2009 Feb 11.PMID: 19338779 [PubMed - indexed for MEDLINE]Related articles

Examination of the MSX1 gene in patients with Parkinson's disease.

Deng H, Zhu SH, Le WD, Yang HR, Lv HW, Xu HB, Xie WJ, Jankovic J.

Acta Neurol Scand. 2009 Dec;120(6):442-4.PMID: 19922584 [PubMed - indexed for MEDLINE]Related articles

[Research advances in tooth agenesis]

Feng HL, Zhang XX, Wu H.

Beijing Da Xue Xue Bao. 2007 Feb 18;39(1):13-7. Chinese. PMID: 17304318 [PubMed - indexed for MEDLINE]Related articles

Molecular cloning and characterization of porcine homeodomain transcription factor Msx1.

Ishikawa A, Kato T, Susa T, Sano A, Kato Y.

J Reprod Dev. 2009 Jun;55(3):278-82. Epub 2009 Mar 4.PMID: 19262020 [PubMed - indexed for MEDLINE]Related articlesFree article

Differential impact of MSX1 and MSX2 homeogenes on mouse maxillofacial skeleton.

Berdal A, Molla M, Hotton D, Aïoub M, Lézot F, Néfussi JR, Goubin G.

Cells Tissues Organs. 2009;189(1-4):126-32. Epub 2008 Sep 4.PMID: 18769023 [PubMed - indexed for MEDLINE]Related articles

MEIS1 p.R272H in familial restless legs syndrome.

Vilariño-Güell C, Chai H, Keeling BH, Young JE, Rajput A, Lynch T, Aasly JO, Uitti RJ, Wszolek ZK, Farrer MJ, Lin SC.

Neurology. 2009 Jul 21;73(3):243-5. No abstract available. PMID: 19620614 [PubMed - indexed for MEDLINE]Related articles

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F.

Am J Hum Genet. 2007 Apr;80(4):800-4. Epub 2007 Feb 22.PMID: 17357085 [PubMed - indexed for MEDLINE]Related articlesFree article

Msx genes are important apoptosis effectors downstream of the Shh/Gli3 pathway in the limb.

Lallemand Y, Bensoussan V, Cloment CS, Robert B.

Dev Biol. 2009 Jul 15;331(2):189-98. Epub 2009 May 5.PMID: 19422820 [PubMed - indexed for MEDLINE]Related articles

Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.

Vincent AL, Niederer RL, Richards A, Karolyi B, Patel DV, McGhee CN.

Mol Vis. 2009 Dec 3;15:2544-53.PMID: 19997581 [PubMed - indexed for MEDLINE]Related articlesFree article

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.

Wang Y, Groppe JC, Wu J, Ogawa T, Mues G, D'Souza RN, Kapadia H.

Hum Mol Genet. 2009 Aug 1;18(15):2863-74. Epub 2009 May 9.PMID: 19429910 [PubMed - indexed for MEDLINE]Related articles

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D, Mathieu Y, Pontual L, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J.

Hum Mutat. 2009 Feb;30(2):E421-31.PMID: 19058226 [PubMed - indexed for MEDLINE]Related articles

Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect.

Dauwerse JG, De Die-Smulders CE, Bakker E, Breuning MH, Peters DJ.

J Med Genet. 2002 Sep;39(9):686-8. No abstract available. PMID: 12205114 [PubMed - indexed for MEDLINE]Related articlesFree article