Institute of Genetic Medicine Archives

2008
02/08

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

2003
01/01/03 - 03/31/03

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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