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Creative Data Solutions (CDS) is a Vanderbilt Shared Resource and has extensive experience in providing effective and robust solutions to challenges pertaining to research data using modern informatics and bioinformatics approaches.
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Publications
- Inactivating mutations in NPC1L1 and protection from coronary heart disease.
Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O'Donnell CJ, Abecasis G, Sunaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S
(2014) N Engl J Med 371: 2072-82 - Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP
(2012) Nature 482: 98-102 - Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI
(1996) Nature 384: 458-60 - Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures.
Stark A, Lin MF, Kheradpour P, Pedersen JS, Parts L, Carlson JW, Crosby MA, Rasmussen MD, Roy S, Deoras AN, Ruby JG, Brennecke J, Harvard FlyBase curators, Berkeley Drosophila Genome Project, Hodges E, Hinrichs AS, Caspi A, Paten B, Park SW, Han MV, Maeder ML, Polansky BJ, Robson BE, Aerts S, van Helden J, Hassan B, Gilbert DG, Eastman DA, Rice M, Weir M, Hahn MW, Park Y, Dewey CN, Pachter L, Kent WJ, Haussler D, Lai EC, Bartel DP, Hannon GJ, Kaufman TC, Eisen MB, Clark AG, Smith D, Celniker SE, Gelbart WM, Kellis M
(2007) Nature 450: 219-32 - A stomatin-like protein necessary for mechanosensation in C. elegans.
Huang M, Gu G, Ferguson EL, Chalfie M
(1995) Nature 378: 292-5 - Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ
(2012) Nature 485: 242-5 - Syk tyrosine kinase required for mouse viability and B-cell development.
Cheng AM, Rowley B, Pao W, Hayday A, Bolen JB, Pawson T
(1995) Nature 378: 303-6 - RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E).
Poulikakos PI, Persaud Y, Janakiraman M, Kong X, Ng C, Moriceau G, Shi H, Atefi M, Titz B, Gabay MT, Salton M, Dahlman KB, Tadi M, Wargo JA, Flaherty KT, Kelley MC, Misteli T, Chapman PB, Sosman JA, Graeber TG, Ribas A, Lo RS, Rosen N, Solit DB
(2011) Nature 480: 387-90 - Genome-wide in situ exon capture for selective resequencing.
Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, McCombie WR
(2007) Nat Genet 39: 1522-7 - The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
(2002) Nat Genet 32: 384-92 - Recognition of the product of a novel MHC TL region gene (27b) by a mouse gamma delta T cell receptor.
Ito K, Van Kaer L, Bonneville M, Hsu S, Murphy DB, Tonegawa S
(1990) Cell 62: 549-61 - Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP
(1991) Cell 65: 905-14 - A non-AUG translational initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas.
Hann SR, King MW, Bentley DL, Anderson CW, Eisenman RN
(1988) Cell 52: 185-95 - Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG, Warren ST
(1991) Cell 67: 1047-58 - Glutamate receptor RNA editing in vitro by enzymatic conversion of adenosine to inosine.
Rueter SM, Burns CM, Coode SA, Mookherjee P, Emeson RB
(1995) Science 267: 1491-4 - ATR and ATRIP: partners in checkpoint signaling.
Cortez D, Guntuku S, Qin J, Elledge SJ
(2001) Science 294: 1713-6 - EGF receptor mutations in lung cancer: from humans to mice and maybe back to humans.
Arteaga CL
(2006) Cancer Cell 9: 421-3 - Use of cigarette-smoking history to estimate the likelihood of mutations in epidermal growth factor receptor gene exons 19 and 21 in lung adenocarcinomas.
Pham D, Kris MG, Riely GJ, Sarkaria IS, McDonough T, Chuai S, Venkatraman ES, Miller VA, Ladanyi M, Pao W, Wilson RK, Singh B, Rusch VW
(2006) J Clin Oncol 24: 1700-4 - Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ
(2003) Circulation 108: 445-51 - Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
(2011) Genome Res 21: 658-64 - Pattern of sequence variation across 213 environmental response genes.
Livingston RJ, von Niederhausern A, Jegga AG, Crawford DC, Carlson CS, Rieder MJ, Gowrisankar S, Aronow BJ, Weiss RB, Nickerson DA
(2004) Genome Res 14: 1821-31 - Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity.
Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, Beaudet AL
(1997) Genome Res 7: 642-8 - Post-entrapment genome engineering: first exon size does not affect the expression of fusion transcripts generated by gene entrapment.
Osipovich AB, Singh A, Ruley HE
(2005) Genome Res 15: 428-35 - An efficient method for isolating putative promoters and 5'-transcribed sequences from large genomic clones.
Mortlock DP, Nelson MR, Innis JW
(1996) Genome Res 6: 327-35 - Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.
Ackerman MJ, VanDriest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, Gersh BJ
(2002) J Am Coll Cardiol 39: 2042-8 - Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ
(2004) J Am Coll Cardiol 44: 602-10 - Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ
(2004) J Am Coll Cardiol 44: 1903-10 - Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass.
Ristow M, Mulder H, Pomplun D, Schulz TJ, Müller-Schmehl K, Krause A, Fex M, Puccio H, Müller J, Isken F, Spranger J, Müller-Wieland D, Magnuson MA, Möhlig M, Koenig M, Pfeiffer AF
(2003) J Clin Invest 112: 527-34 - Cardiomyocyte-specific deletion of the coxsackievirus and adenovirus receptor results in hyperplasia of the embryonic left ventricle and abnormalities of sinuatrial valves.
Chen JW, Zhou B, Yu QC, Shin SJ, Jiao K, Schneider MD, Baldwin HS, Bergelson JM
(2006) Circ Res 98: 923-30 - TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR
(2013) Am J Hum Genet 93: 197-210 - Genetic architecture of microRNA expression: implications for the transcriptome and complex traits.
Gamazon ER, Ziliak D, Im HK, LaCroix B, Park DS, Cox NJ, Huang RS
(2012) Am J Hum Genet 90: 1046-63 - Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.
Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD
(2005) Am J Hum Genet 77: 265-79 - Haplotypes of angiotensinogen in essential hypertension.
Jeunemaitre X, Inoue I, Williams C, Charru A, Tichet J, Powers M, Sharma AM, Gimenez-Roqueplo AP, Hata A, Corvol P, Lalouel JM
(1997) Am J Hum Genet 60: 1448-60 - Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins.
Marttila R, Haataja R, Guttentag S, Hallman M
(2003) Am J Respir Crit Care Med 168: 1216-22 - High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.
Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA, Loyd JE, Nichols WC
(2006) Am J Respir Crit Care Med 174: 590-8 - Lipid defect underlies selective skin barrier impairment of an epidermal-specific deletion of Gata-3.
de Guzman Strong C, Wertz PW, Wang C, Yang F, Meltzer PS, Andl T, Millar SE, Ho IC, Pai SY, Segre JA
(2006) J Cell Biol 175: 661-70 - CBFA2, frequently rearranged in leukemia, is not responsible for a familial leukemia syndrome.
Legare RD, Lu D, Gallagher M, Ho C, Tan X, Barker G, Shimizu K, Ohki M, Lenny N, Hiebert S, Gilliland DG
(1997) Leukemia 11: 2111-9 - Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors.
Shi H, Moriceau G, Kong X, Koya RC, Nazarian R, Pupo GM, Bacchiocchi A, Dahlman KB, Chmielowski B, Sosman JA, Halaban R, Kefford RF, Long GV, Ribas A, Lo RS
(2012) Cancer Discov 2: 414-24 - EGFR Fusions as Novel Therapeutic Targets in Lung Cancer.
Konduri K, Gallant JN, Chae YK, Giles FJ, Gitlitz BJ, Gowen K, Ichihara E, Owonikoko TK, Peddareddigari V, Ramalingam SS, Reddy SK, Eaby-Sandy B, Vavalà T, Whiteley A, Chen H, Yan Y, Sheehan JH, Meiler J, Morosini D, Ross JS, Stephens PJ, Miller VA, Ali SM, Lovly CM
(2016) Cancer Discov 6: 601-11 - Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium
(2020) Nat Commun 11: 4748
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