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Items: 1 to 20 of 176

1.

Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema.

Bruun CS, Jørgensen CB, Bay L, Cirera S, Jensen HE, Leifsson PS, Nielsen J, Christensen K, Fredholm M.

BMC Genomics. 2008 Jun 12;9:283. doi: 10.1186/1471-2164-9-283.

2.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
3.

Loss of integrin alpha(v)beta6-mediated TGF-beta activation causes Mmp12-dependent emphysema.

Morris DG, Huang X, Kaminski N, Wang Y, Shapiro SD, Dolganov G, Glick A, Sheppard D.

Nature. 2003 Mar 13;422(6928):169-73.

PMID:
12634787
4.

Molecular characterization and expression analysis of porcine integrins alphavbeta3, alphavbeta6 and alphavbeta8 that are potentially involved in FMDV infection.

Du J, Chang H, Gao S, Xue S, Cong G, Shao J, Lin T, Liu Z, Liu X, Cai X.

Mol Cell Probes. 2010 Oct;24(5):256-65. doi: 10.1016/j.mcp.2010.04.005. Epub 2010 May 8.

PMID:
20438833
5.

Pili annulati: refinement of the locus on chromosome 12q24.33 to a 2.9-Mb interval and candidate gene analysis.

Giehl KA, Rogers MA, Radivojkov M, Tosti A, de Berker DA, Weinlich G, Schmuth M, Ruzicka T, Eckstein GN.

Br J Dermatol. 2009 Mar;160(3):527-33. doi: 10.1111/j.1365-2133.2008.08948.x. Epub 2008 Nov 25.

PMID:
19067701
6.

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Cichon S, Anker M, Vogt IR, Rohleder H, Pützstück M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nöthen MM.

Hum Mol Genet. 1998 Oct;7(11):1671-9. Erratum in: Hum Mol Genet 1998 Nov;7(12):1987-8.

PMID:
9736769
7.

Functional characterization of a porcine emphysema model.

Bruun CS, Jensen LK, Leifsson PS, Nielsen J, Cirera S, Jørgensen CB, Jensen HE, Fredholm M.

Lung. 2013 Dec;191(6):669-75. doi: 10.1007/s00408-013-9504-2. Epub 2013 Sep 17.

PMID:
24043489
8.

Molecular cloning and characterization of porcine sirtuin genes.

Jin D, Tan HJ, Lei T, Gan L, Chen XD, Long QQ, Feng B, Yang ZQ.

Comp Biochem Physiol B Biochem Mol Biol. 2009 Aug;153(4):348-58. doi: 10.1016/j.cbpb.2009.04.004. Epub 2009 Apr 21.

PMID:
19389481
9.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ.

Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24.

10.
11.

Porcine skeletal muscle differentially expressed gene CMYA1: isolation, characterization, mapping, expression and association analysis with carcass traits.

Xu XL, Xu XW, Pan PW, Li K, Jiang ZH, Yu M, Rothschild MF, Liu B.

Anim Genet. 2009 Jun;40(3):255-61. doi: 10.1111/j.1365-2052.2008.01825.x. Epub 2009 Jan 20.

PMID:
19170674
12.

Molecular characterization of the porcine GBP1 and GBP2 genes.

Ma G, Huang J, Sun N, Liu X, Zhu M, Wu Z, Zhao S.

Mol Immunol. 2008 May;45(10):2797-807. doi: 10.1016/j.molimm.2008.02.007. Epub 2008 Mar 17.

PMID:
18346789
13.

Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia.

Henriksen C, Madsen LB, Bendixen C, Larsen K.

Gene. 2009 Feb 1;430(1-2):105-15. doi: 10.1016/j.gene.2008.10.023. Epub 2008 Nov 6.

PMID:
19028553
14.

Sheep (Ovis aries) integrins alphavbeta1 and alphavbeta6 related to foot-and-mouth disease virus infection: molecular cloning, sequence analysis and comparison with homologues.

Du J, Chang H, Gao S, Cong G, Shao J, Lin T, Liu Z, Liu X, Cai X.

Mol Cell Probes. 2009 Oct;23(5):247-57. doi: 10.1016/j.mcp.2009.06.001. Epub 2009 Jun 23.

PMID:
19555755
15.

Inheritance of the F4ab, F4ac and F4ad E. coli receptors in swine and examination of four candidate genes for F4acR.

Python P, Jörg H, Neuenschwander S, Asai-Coakwell M, Hagger C, Bürgi E, Bertschinger HU, Stranzinger G, Vögeli P.

J Anim Breed Genet. 2005 Apr;122 Suppl 1:5-14.

PMID:
16130451
16.

A novel missense mutation in the mouse hairless gene causes irreversible hair loss: genetic and molecular analyses of Hr m1Enu.

Nam Y, Kim JK, Cha DS, Cho JW, Cho KH, Yoon S, Yoon JB, Oh YS, Suh JG, Han SS, Song CW, Yoon SK.

Genomics. 2006 Apr;87(4):520-6. Epub 2006 Feb 7.

17.

A nonsense mutation in MSX1 causes Witkop syndrome.

Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR.

Am J Hum Genet. 2001 Jul;69(1):67-74. Epub 2001 May 16.

18.

Amplification of TGFβ Induced ITGB6 Gene Transcription May Promote Pulmonary Fibrosis.

Tatler AL, Goodwin AT, Gbolahan O, Saini G, Porte J, John AE, Clifford RL, Violette SM, Weinreb PH, Parfrey H, Wolters PJ, Gauldie J, Kolb M, Jenkins G.

PLoS One. 2016 Aug 5;11(8):e0158047. doi: 10.1371/journal.pone.0158047. eCollection 2016.

19.

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.

Hilgert N, Topsakal V, van Dinther J, Offeciers E, Van de Heyning P, Van Camp G.

Eur J Hum Genet. 2008 May;16(5):593-602. doi: 10.1038/sj.ejhg.5202000. Epub 2008 Jan 23.

20.

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC.

Hum Mol Genet. 2014 Apr 15;23(8):2157-63. doi: 10.1093/hmg/ddt611. Epub 2013 Dec 4.

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