February 2012
PUBLICATIONS - Back

Institute of Genetic Medicine Archives

1. Kasamon YL. Luznik L, Leffell MS, Kowalski J, Tsai HL, Bolanos-Meade J, Morris LE, Crilley PA, O'Donnell PV, Huff CA, Brodsky RA, Matsui WH, Swinnen LJ, Borrello I, Powell JD, Ambinder RF, Jones RJ, Fuchs EJ. Nonmyeloablative HLA-haploidentical bone marrow transplantation cyclophosphamide: effect of HLA disparity on outcome. Biol Blood Marrow Transplant. 2010 Apr;16(4):482-9.
Key words: HLA, bone marrow transplantation, cyclophosphamide
http://www.ncbi.nlm.nih.gov/pubmed/19925877

2. Wehner JR, Fox-Talbot K, Halushka MK, Ellis C, Zachary AA, Baldwin WM 3rd. B cells and plasma cells in coronaries of chronically rejected cardiac transplants. Transplantation. 2010 May 15;89(9):1141-8.
Key words: Chronic allograft vasculopathy, B cells, Plasma cells
http://ovidsp.tx.ovid.com/sp-2.3.1b/ovidweb.cgi?QS2=
434f4e1a73d37e8c504983e01e46c99a0e68ff0ba179155582b
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d89181db0c24e31942e7abe98814b94f84b6d4a5de06aaec73ce
59397dc39653e7b09e5421495eae7267088eca15bf3e902b8808
cad708b26178dcfa81fdc96a2223c6cf27f519029ec4c8a49fe07b7
c3015adeba4678f5b956f00ad28231cca0448a6dc0729dd406683e
50de0bf3b5d294eb6a28022960e8329aaad8773316863d868f6539077
d5294a68dc07e7d1cf033dc40c23152617e633bbeebad71f935d00a
87b34937a4f5d8bb519ae8e63e890eccf9fb5af75adae031376d
996216b507156c105fe0983a8c213f7e62a9400473a6101fd3eb9e
91f8bce2c56c61ab258c02e7af3df05613e86a3972f129
PMID: 20386145

3. Zachary AA, Leffell MS. Barriers to successful transplantation of the sensitized patient. Expert Rev Clin Immunol. 2010 May;6(3):449-60.
Key words: cardiac transplantation, outcomes
http://www.ncbi.nlm.nih.gov/pubmed/20441430

4. Zachary AA, Montgomery RA, Locke JE, Leffell MS. Proinflammatory events and HLA antibodies. Am J Transplant. 2010 Apr;10(4):956.
Key words: HLA, proinflammatory events, antibodies
http://www.ncbi.nlm.nih.gov/pubmed/20148814

1. Arking DE, Cutler D, Brune C, Teslovich T, West K, Ikeda M, Rea A, Guy M, Lin S, Cook E, Chakravarti A. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008 Jan; 82:160-164.
Key words: autism, CNTNAP2, neurexin
http://www.ncbi.nlm.nih.gov/pubmed/18179894?ordinalpos=2&itool=EntrezSystem2.
PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

2. Cheng TL, Cohn R, Dover G. The genetics revolution and primary care pediatrics. JAMA 2008 Jan 30;299(4):451-453.
Key words: individualized medicine, genetics and pediatrics, genetic medicine
http://www.ncbi.nlm.nih.gov/pubmed/18179894?ordinalpos=2&itool=EntrezSystem2.
PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

3. Christoforou N, Miller R, Hill C, Jie C, McCallion A, Gearhart J. The characterization of ES-derived cardiac precursor cells demonstrates their multipotentiality and identifies novel cardiac genes. J Clin Invest 2008 Feb1; doi:10.1172/JCI33942.
Key words: cardiac progenitor cells, Nkx2-5, Flk, c-Kit, and Nkx2-5
http://www.jci.org/articles/view/33942
PMID: 18246200

4. Collaco JM, Vanscoy L, Bremer L, McDougal K, Blackman S, Bowers Am, Naughton K, Jennings J, Ellen J, Cutting G. Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease. JAMA 2008 Jan 30;299(4):417-424.
Key words: cystic fibrosis, secondhand smoke, gene-environment interactions
http://jama.ama-assn.org/cgi/content/full/299/4/417
PMID: 18230779

5. Lisi EC, Hamosh A, Doheny K, Squibb E, Jackson B, Galcynski R, Thomas G, Batista D. 3q29 interstitial microduplication: a new syndrome in a three-generation family. Am J Med Genet A. 2008 Feb 1; [Epub ahead of print]
Key words: duplication 3q29, array CGH, SNP, mental retardation http://www.ncbi.nlm.nih.gov/pubmed/18241066?ordinalpos=1&itool=EntrezSystem

6. Mathivanan S, Ahmed M, Ahn NG, et al. Human proteinpedia enables sharing of human protein data. Nature Biotechnology. 2008 Feb;26(2):164-167.
Key words: Proteomic technologies, Human Proteinpedia
http://www.nature.com/doifinder/10.1038/nbt0208-164
PMID: 18259167

7. Sussan T, Yang A, Li F, Ostrowski M, Reeves R. Trisomy represses Apc-mediated tumors in mouse models of Down's syndrome. Nature. 2008 Jan 3;451:73-75.
Key words: trisomy 21, Down syndrome, tumor suppression, Ets2
http://www.nature.com/nature/journal/v451/n7174/abs/nature06446.html
PMID: 18172498

1. Badano, JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003; 72: 650-658
Key words: Candidate gene; positional cloning; Bardet-Biedl syndrome; oligogenic disease

2. Frischmeyer PA, van Hoof A, O’Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science. 2002; 295:2258-61
Key words: nonstop decay; translation; mRNA surveillance; polyadenylation

3. Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Facial Dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1. Am J Med Genet. 2003; 117A(1):47-56
Key words: anophthalmia; cryptophthalmos; cleft lip and palate; TWIST chromosome 7 ; HOXA1

4. Krishnamachary B, Berg-Dixon S, Kelly B, Agani F, Feldser D, Ferreira G, Iyer N, LaRusch J, Pak B, Taghavi P, Semenza GL. Regulation of colon carcinoma cell invasion by hypoxia-inducible factor 1. Cancer Res. 2003; 63: 1138-1143
Key words: cancer, hypoxia, invasion, transcription factor, uPAR

5. Marth G, Schuler G, Yeh R, Davenport R, Agarwala R, Church D, Wheelan S, Baker J, Ward M, Kholodov M, Phan L, Czabarka E, Murvai J, Cutler DJ, Wooding S, Rogers A, Chakravarti, A, Harpending H, Kwok PY, Sherry S:Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci (USA). 2003; 100: 376–381
Key words: Human evolution; genome sequence; sequence polymorphism

6. McCallion AS, Stames E, Conlon RA, Chakravarti A. Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednr. Proc Natl Acad Sci (USA). 2003; (in press).
Key words: Neurocristopathy; animal models; genetic interaction

7. Migeon, BR. Is Tsix repression of Xist specific to mouse? Nature Genetics. 2003; 33: 337
Key words: X inactivation; XIST; TSIX; species difference

8. Mitchell AA, Cutler DJ, Chakravarti A. Undetected genotyping errors cause apparent over transmission of common alleles in the transmission disequilibrium test. Amer J Human Genetics. 2003; 72:598–610
Key words: Common disease; genotype errors; transmission test

9. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai L, Dietz HC. Dysregulation of TGFß activation contributes to pathogenesis in Marfan syndrome. Nature Genet. 2003; 33:407-411
Key words: Marfan syndrome; emphysema; TGFbeta; lung; pathogenesis

10. Pandey A, Peri S, Thacker C, Pugh CA, Collins JJ, Mann M. Computational and experimental analysis reveals a novel Src family kinase in the C. elegans genome. Bioinformatics. 2003; 19, 169-172
Key words: bioinformatics; annotation; databases; kinase

11. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003; 72:408-418
Key words: connexin; gap junctions; mutations; oculodentodigital syndrome; neurodegeneration

12. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003; 40 153-162
Key words: skeletal dysplasia, glaucoma, nephropathy, neuropathy, LMX1B

 

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