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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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Connections to Point Mutation are shown below. Double-click or tap a node for more information.
Please note that publication matches are limited to 40 in this view. If you expected more, please view all publication matches for Point Mutation.
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- Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.
Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA, Loyd JE
(2001) N Engl J Med 345: 319-24 - Embryonic lethality in mice homozygous for a processing-deficient allele of Notch1.
Huppert SS, Le A, Schroeter EH, Mumm JS, Saxena MT, Milner LA, Kopan R
(2000) Nature 405: 966-70 - Proteogenomic characterization of human colon and rectal cancer.
Zhang B, Wang J, Wang X, Zhu J, Liu Q, Shi Z, Chambers MC, Zimmerman LJ, Shaddox KF, Kim S, Davies SR, Wang S, Wang P, Kinsinger CR, Rivers RC, Rodriguez H, Townsend RR, Ellis MJ, Carr SA, Tabb DL, Coffey RJ, Slebos RJ, Liebler DC, NCI CPTAC
(2014) Nature 513: 382-7 - Mutation of HOXA13 in hand-foot-genital syndrome.
Mortlock DP, Innis JW
(1997) Nat Genet 15: 179-80 - M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity.
De Souza AT, Hankins GR, Washington MK, Orton TC, Jirtle RL
(1995) Nat Genet 11: 447-9 - Structural changes in bacteriorhodopsin during ion transport at 2 angstrom resolution.
Luecke H, Schobert B, Richter HT, Cartailler JP, Lanyi JK
(1999) Science 286: 255-61 - Regulation of chromatin remodeling by inositol polyphosphates.
Steger DJ, Haswell ES, Miller AL, Wente SR, O'Shea EK
(2003) Science 299: 114-6 - Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma.
Trunzer K, Pavlick AC, Schuchter L, Gonzalez R, McArthur GA, Hutson TE, Moschos SJ, Flaherty KT, Kim KB, Weber JS, Hersey P, Long GV, Lawrence D, Ott PA, Amaravadi RK, Lewis KD, Puzanov I, Lo RS, Koehler A, Kockx M, Spleiss O, Schell-Steven A, Gilbert HN, Cockey L, Bollag G, Lee RJ, Joe AK, Sosman JA, Ribas A
(2013) J Clin Oncol 31: 1767-74 - Functional variant of CYP4A11 20-hydroxyeicosatetraenoic acid synthase is associated with essential hypertension.
Gainer JV, Bellamine A, Dawson EP, Womble KE, Grant SW, Wang Y, Cupples LA, Guo CY, Demissie S, O'Donnell CJ, Brown NJ, Waterman MR, Capdevila JH
(2005) Circulation 111: 63-9 - Pleiotropic effects of the trichloroethylene-associated P81S VHL mutation on metabolism, apoptosis, and ATM-mediated DNA damage response.
Desimone MC, Rathmell WK, Threadgill DW
(2013) J Natl Cancer Inst 105: 1355-64 - Estrogen receptor gene analysis in estrogen receptor-positive and receptor-negative primary breast cancer.
Roodi N, Bailey LR, Kao WY, Verrier CS, Yee CJ, Dupont WD, Parl FF
(1995) J Natl Cancer Inst 87: 446-51 - Multiple hyperplastic polyps in the stomach: evidence for clonality and neoplastic potential.
Dijkhuizen SM, Entius MM, Clement MJ, Polak MM, Van den Berg FM, Craanen ME, Slebos RJ, Offerhaus GJ
(1997) Gastroenterology 112: 561-6 - C-erbB-2 expression and codon 12 K-ras mutations both predict shortened survival for patients with pulmonary adenocarcinomas.
Kern JA, Slebos RJ, Top B, Rodenhuis S, Lager D, Robinson RA, Weiner D, Schwartz DA
(1994) J Clin Invest 93: 516-20 - 5' CArG degeneracy in smooth muscle alpha-actin is required for injury-induced gene suppression in vivo.
Hendrix JA, Wamhoff BR, McDonald OG, Sinha S, Yoshida T, Owens GK
(2005) J Clin Invest 115: 418-27 - Coexpression of glucose transporters and glucokinase in Xenopus oocytes indicates that both glucose transport and phosphorylation determine glucose utilization.
Morita H, Yano Y, Niswender KD, May JM, Whitesell RR, Wu L, Printz RL, Granner DK, Magnuson MA, Powers AC
(1994) J Clin Invest 94: 1373-82 - Novel role of ARF6 in vascular endothelial growth factor-induced signaling and angiogenesis.
Ikeda S, Ushio-Fukai M, Zuo L, Tojo T, Dikalov S, Patrushev NA, Alexander RW
(2005) Circ Res 96: 467-75 - Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.
Tyska MJ, Hayes E, Giewat M, Seidman CE, Seidman JG, Warshaw DM
(2000) Circ Res 86: 737-44 - Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.
Durham SE, Samuels DC, Cree LM, Chinnery PF
(2007) Am J Hum Genet 81: 189-95 - Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF
(2001) Am J Hum Genet 68: 533-6 - Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations.
Entius MM, Westerman AM, Giardiello FM, van Velthuysen ML, Polak MM, Slebos RJ, Wilson JH, Hamilton SR, Offerhaus GJ
(1997) Gut 41: 320-2 - Methylation-dependent transition rates are dependent on local sequence lengths and genomic regions.
Zhao Z, Jiang C
(2007) Mol Biol Evol 24: 23-5 - Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.
Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J, Jackson CE, Puck JM, Dale J, Straus SE, Peter ME, Krammer PH, Fesik S, Lenardo MJ
(1999) Proc Natl Acad Sci U S A 96: 4552-7 - The ability to associate with activation domains in vitro is not required for the TATA box-binding protein to support activated transcription in vivo.
Tansey WP, Herr W
(1995) Proc Natl Acad Sci U S A 92: 10550-4 - Mutational landscape of EGFR-, MYC-, and Kras-driven genetically engineered mouse models of lung adenocarcinoma.
McFadden DG, Politi K, Bhutkar A, Chen FK, Song X, Pirun M, Santiago PM, Kim-Kiselak C, Platt JT, Lee E, Hodges E, Rosebrock AP, Bronson RT, Socci ND, Hannon GJ, Jacks T, Varmus H
(2016) Proc Natl Acad Sci U S A 113: E6409-E6417 - Induction of frameshift and base pair substitution mutations by the major DNA adduct of the endogenous carcinogen malondialdehyde.
VanderVeen LA, Hashim MF, Shyr Y, Marnett LJ
(2003) Proc Natl Acad Sci U S A 100: 14247-52 - The Arabidopsis HOMOLOGY-DEPENDENT GENE SILENCING1 gene codes for an S-adenosyl-L-homocysteine hydrolase required for DNA methylation-dependent gene silencing.
Rocha PS, Sheikh M, Melchiorre R, Fagard M, Boutet S, Loach R, Moffatt B, Wagner C, Vaucheret H, Furner I
(2005) Plant Cell 17: 404-17 - K-RasG12D expression induces hyperproliferation and aberrant signaling in primary hematopoietic stem/progenitor cells.
Van Meter ME, Díaz-Flores E, Archard JA, Passegué E, Irish JM, Kotecha N, Nolan GP, Shannon K, Braun BS
(2007) Blood 109: 3945-52 - Functional analysis of the cytoplasmic domain of the integrin {alpha}1 subunit in endothelial cells.
Abair TD, Bulus N, Borza C, Sundaramoorthy M, Zent R, Pozzi A
(2008) Blood 112: 3242-54 - Negative regulation of activated alpha-2 integrins during thrombopoiesis.
Zou Z, Schmaier AA, Cheng L, Mericko P, Dickeson SK, Stricker TP, Santoro SA, Kahn ML
(2009) Blood 113: 6428-39 - A classification system for cross-reactive material-negative factor XI deficiency.
Kravtsov DV, Monahan PE, Gailani D
(2005) Blood 105: 4671-3 - Single amino acid substitution in aquaporin 11 causes renal failure.
Tchekneva EE, Khuchua Z, Davis LS, Kadkina V, Dunn SR, Bachman S, Ishibashi K, Rinchik EM, Harris RC, Dikov MM, Breyer MD
(2008) J Am Soc Nephrol 19: 1955-64 - Insights into ALK-driven cancers revealed through development of novel ALK tyrosine kinase inhibitors.
Lovly CM, Heuckmann JM, de Stanchina E, Chen H, Thomas RK, Liang C, Pao W
(2011) Cancer Res 71: 4920-31 - Predominant cytosolic localization of type II transforming growth factor beta receptors in human breast carcinoma cells.
Koli KM, Arteaga CL
(1997) Cancer Res 57: 970-7 - K-ras oncogene activation in atypical alveolar hyperplasias of the human lung.
Westra WH, Baas IO, Hruban RH, Askin FB, Wilson K, Offerhaus GJ, Slebos RJ
(1996) Cancer Res 56: 2224-8 - Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.
Mounkes LC, Kozlov SV, Rottman JN, Stewart CL
(2005) Hum Mol Genet 14: 2167-80 - Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF
(2016) Hum Mol Genet 25: 1031-41 - Presenilin-1-dependent transcriptome changes.
Mirnics K, Korade Z, Arion D, Lazarov O, Unger T, Macioce M, Sabatini M, Terrano D, Douglass KC, Schor NF, Sisodia SS
(2005) J Neurosci 25: 1571-8 - Tau protein is cross-linked by transglutaminase in P301L tau transgenic mice.
Halverson RA, Lewis J, Frausto S, Hutton M, Muma NA
(2005) J Neurosci 25: 1226-33 - A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.
Jaeschke H, Schaarschmidt J, Eszlinger M, Huth S, Puttinger R, Rittinger O, Meiler J, Paschke R
(2014) J Clin Endocrinol Metab 99: E2051-9 - Mutation of an upstream cleavage site in the BMP4 prodomain leads to tissue-specific loss of activity.
Goldman DC, Hackenmiller R, Nakayama T, Sopory S, Wong C, Kulessa H, Christian JL
(2006) Development 133: 1933-42
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