Below are the most recent publications written about "Frameshift Mutation" by people in Profiles.
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Keen C, Samango-Sprouse C, Dubbs H, Zackai EH. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Am J Med Genet A. 2017 Mar; 173(3):762-765.
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Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dubé MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Völker U, Völzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet. 2014 Jun; 46(6):629-34.
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Chen S, Sun M, Meng X, Iozzo RV, Kao WW, Birk DE. Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans. Am J Pathol. 2011 Nov; 179(5):2409-19.
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Showalter SL, Charles S, Belin J, Cozzitorto J, Einstein P, Richards NG, Sauter PK, Kennedy EP, Witkiewicz A, Brody JR, Yeo CJ. Identifying pancreatic cancer patients for targeted treatment: the challenges and limitations of the current selection process and vision for the future. Expert Opin Drug Deliv. 2010 Mar; 7(3):273-84.
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Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat. 2007 Jul; 28(7):742.
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Gober MD, Rady PL, He Q, Tucker SB, Tyring SK, Gaspari AA. Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. J Invest Dermatol. 2007 Apr; 127(4):817-20.
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Pomerantz RT, Temiakov D, Anikin M, Vassylyev DG, McAllister WT. A mechanism of nucleotide misincorporation during transcription due to template-strand misalignment. Mol Cell. 2006 Oct 20; 24(2):245-55.
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Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct; 79(4):724-30.
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van der Heijden MS, Brody JR, Elghalbzouri-Maghrani E, Zdzienicka MZ, Kern SE. Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers. BMC Genet. 2006; 7:3.
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Iacobuzio-Donahue CA, Song J, Parmiagiani G, Yeo CJ, Hruban RH, Kern SE. Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors. Clin Cancer Res. 2004 Mar 1; 10(5):1597-604.