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Items: 1 to 20 of 93

1.
2.

Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.

Mizuno Y, Thompson TG, Guyon JR, Lidov HG, Brosius M, Imamura M, Ozawa E, Watkins SC, Kunkel LM.

Proc Natl Acad Sci U S A. 2001 May 22;98(11):6156-61. Epub 2001 May 15.

3.

Downregulation of desmuslin in primary vein incompetence.

Yin H, Zhang X, Wang J, Yin W, Zhang G, Wang S, Liu Q.

J Vasc Surg. 2006 Feb;43(2):372-8.

4.

Desmuslin gene knockdown causes altered expression of phenotype markers and differentiation of saphenous vein smooth muscle cells.

Xiao Y, Huang Z, Yin H, Zhang H, Wang S.

J Vasc Surg. 2010 Sep;52(3):684-90. doi: 10.1016/j.jvs.2010.03.069. Epub 2010 Jun 22.

5.

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J.

Genes Dev. 1996 Jul 15;10(14):1724-35.

6.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG.

N Engl J Med. 2000 Mar 16;342(11):770-80.

7.

Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.

Vicart P, Dupret JM, Hazan J, Li Z, Gyapay G, Krishnamoorthy R, Weissenbach J, Fardeau M, Paulin D.

Hum Genet. 1996 Oct;98(4):422-9.

PMID:
8792816
8.

Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis.

Morcuende JA, Minhas R, Dolan L, Stevens J, Beck J, Wang K, Weinstein SL, Sheffield V.

Spine (Phila Pa 1976). 2003 Sep 1;28(17):2025-8; discussion 2029.

PMID:
12973153
9.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
10.

SLC45A2 variations in Indian oculocutaneous albinism patients.

Sengupta M, Chaki M, Arti N, Ray K.

Mol Vis. 2007 Aug 10;13:1406-11.

PMID:
17768386
12.

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J.

BMC Cancer. 2006 Sep 29;6:230.

13.

WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer.

Bednarek AK, Laflin KJ, Daniel RL, Liao Q, Hawkins KA, Aldaz CM.

Cancer Res. 2000 Apr 15;60(8):2140-5.

14.

Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development.

Clifford SC, Walsh S, Hewson K, Green EK, Brinke A, Green PM, Gianelli F, Eng C, Maher ER.

Genes Chromosomes Cancer. 1999 Sep;26(1):20-8.

PMID:
10441001
15.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.

Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E.

Genomics. 2004 Sep;84(3):577-86.

PMID:
15498464
16.

Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A, Elbedour K, Srikumari Srisailapathy CR, Keats BJ, Sheffield VC, Smith RJ.

Gene. 2000 Apr 4;246(1-2):265-74.

PMID:
10767548
17.

Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome.

Wong LJ, Chen TJ, Dai P, Bird L, Muenke M.

Am J Med Genet. 2001 Aug 15;102(3):282-5. Erratum in: Am J Med Genet 2002 Apr 22;109(2):166.

PMID:
11484208
18.
19.

Detection of single-nucleotide polymorphisms in the intron 9 region of the nucleotide oligomerization domain-1 gene in ulcerative colitis patients of North India.

Verma R, Ahuja V, Paul J.

J Gastroenterol Hepatol. 2012 Jan;27(1):96-103. doi: 10.1111/j.1440-1746.2011.06832.x.

PMID:
21722177
20.

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP.

Hum Mol Genet. 1999 Oct;8(11):2063-9. Erratum in: Hum Mol Genet 1999 Dec;8(13):2574.

PMID:
10484776

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