MeSH Review:
Frameshift Mutation
- A frameshift mutation in MC4R associated with dominantly inherited human obesity. Yeo, G.S., Farooqi, I.S., Aminian, S., Halsall, D.J., Stanhope, R.G., O'Rahilly, S. Nat. Genet. (1998)
- A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nicholson, G.A., Valentijn, L.J., Cherryson, A.K., Kennerson, M.L., Bragg, T.L., DeKroon, R.M., Ross, D.A., Pollard, J.D., McLeod, J.G., Bolhuis, P.A. Nat. Genet. (1994)
- Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Bolk, S., Angrist, M., Xie, J., Yanagisawa, M., Silvestri, J.M., Weese-Mayer, D.E., Chakravarti, A. Nat. Genet. (1996)
- Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. Willis, T.G., Jadayel, D.M., Du, M.Q., Peng, H., Perry, A.R., Abdul-Rauf, M., Price, H., Karran, L., Majekodunmi, O., Wlodarska, I., Pan, L., Crook, T., Hamoudi, R., Isaacson, P.G., Dyer, M.J. Cell (1999)
- Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Neuhausen, S., Gilewski, T., Norton, L., Tran, T., McGuire, P., Swensen, J., Hampel, H., Borgen, P., Brown, K., Skolnick, M., Shattuck-Eidens, D., Jhanwar, S., Goldgar, D., Offit, K. Nat. Genet. (1996)
- A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition. Ropero, S., Fraga, M.F., Ballestar, E., Hamelin, R., Yamamoto, H., Boix-Chornet, M., Caballero, R., Alaminos, M., Setien, F., Paz, M.F., Herranz, M., Palacios, J., Arango, D., Orntoft, T.F., Aaltonen, L.A., Schwartz, S., Esteller, M. Nat. Genet. (2006)
- Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Inoue, K., Khajavi, M., Ohyama, T., Hirabayashi, S., Wilson, J., Reggin, J.D., Mancias, P., Butler, I.J., Wilkinson, M.F., Wegner, M., Lupski, J.R. Nat. Genet. (2004)
- ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Bienengraeber, M., Olson, T.M., Selivanov, V.A., Kathmann, E.C., O'Cochlain, F., Gao, F., Karger, A.B., Ballew, J.D., Hodgson, D.M., Zingman, L.V., Pang, Y.P., Alekseev, A.E., Terzic, A. Nat. Genet. (2004)
- Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. McGregor, L., Makela, V., Darling, S.M., Vrontou, S., Chalepakis, G., Roberts, C., Smart, N., Rutland, P., Prescott, N., Hopkins, J., Bentley, E., Shaw, A., Roberts, E., Mueller, R., Jadeja, S., Philip, N., Nelson, J., Francannet, C., Perez-Aytes, A., Megarbane, A., Kerr, B., Wainwright, B., Woolf, A.S., Winter, R.M., Scambler, P.J. Nat. Genet. (2003)
- Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Hearn, T., Renforth, G.L., Spalluto, C., Hanley, N.A., Piper, K., Brickwood, S., White, C., Connolly, V., Taylor, J.F., Russell-Eggitt, I., Bonneau, D., Walker, M., Wilson, D.I. Nat. Genet. (2002)
- The product of a newly identified gene, gInF, is required for synthesis of glutamine synthetase in Salmonella. Garcia, E., Bancroft, S., Rhee, S.G., Kustu, S. Proc. Natl. Acad. Sci. U.S.A. (1977)
- Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Bachetti, T., Matera, I., Borghini, S., Di Duca, M., Ravazzolo, R., Ceccherini, I. Hum. Mol. Genet. (2005)
- A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. Uemichi, T., Liepnieks, J.J., Yamada, T., Gertz, M.A., Bang, N., Benson, M.D. Blood (1996)
- Posttranscriptional regulation of cellular gene expression by the c-myc oncogene. Prendergast, G.C., Cole, M.D. Mol. Cell. Biol. (1989)
- Somatic frameshift mutations in the MBD4 gene of sporadic colon cancers with mismatch repair deficiency. Bader, S., Walker, M., Hendrich, B., Bird, A., Bird, C., Hooper, M., Wyllie, A. Oncogene (1999)
- Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Höglund, P., Haila, S., Socha, J., Tomaszewski, L., Saarialho-Kere, U., Karjalainen-Lindsberg, M.L., Airola, K., Holmberg, C., de la Chapelle, A., Kere, J. Nat. Genet. (1996)
- Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Verpy, E., Masmoudi, S., Zwaenepoel, I., Leibovici, M., Hutchin, T.P., Del Castillo, I., Nouaille, S., Blanchard, S., Lainé, S., Popot, J.L., Moreno, F., Mueller, R.F., Petit, C. Nat. Genet. (2001)
- Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Rampino, N., Yamamoto, H., Ionov, Y., Li, Y., Sawai, H., Reed, J.C., Perucho, M. Science (1997)
- A novel gene of HIV-1, vpu, and its 16-kilodalton product. Strebel, K., Klimkait, T., Martin, M.A. Science (1988)
- Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. Steele-Perkins, G., Fang, W., Yang, X.H., Van Gele, M., Carling, T., Gu, J., Buyse, I.M., Fletcher, J.A., Liu, J., Bronson, R., Chadwick, R.B., de la Chapelle, A., Zhang, X., Speleman, F., Huang, S. Genes Dev. (2001)
- The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme. Bai, Y., Attardi, G. EMBO J. (1998)
- Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer. Saeterdal, I., Bjørheim, J., Lislerud, K., Gjertsen, M.K., Bukholm, I.K., Olsen, O.C., Nesland, J.M., Eriksen, J.A., Møller, M., Lindblom, A., Gaudernack, G. Proc. Natl. Acad. Sci. U.S.A. (2001)
- Genetic instability favoring transversions associated with ErbB2-induced mammary tumorigenesis. Liu, S., Liu, W., Jakubczak, J.L., Erexson, G.L., Tindall, K.R., Chan, R., Muller, W.J., Adhya, S., Garges, S., Merlino, G. Proc. Natl. Acad. Sci. U.S.A. (2002)
- MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Huang, J., Kuismanen, S.A., Liu, T., Chadwick, R.B., Johnson, C.K., Stevens, M.W., Richards, S.K., Meek, J.E., Gao, X., Wright, F.A., Mecklin, J.P., Järvinen, H.J., Grönberg, H., Bisgaard, M.L., Lindblom, A., Peltomäki, P. Cancer Res. (2001)
- Genetic alterations of the transforming growth factor beta receptor genes in pancreatic and biliary adenocarcinomas. Goggins, M., Shekher, M., Turnacioglu, K., Yeo, C.J., Hruban, R.H., Kern, S.E. Cancer Res. (1998)
- Congenital leptin deficiency is associated with severe early-onset obesity in humans. Montague, C.T., Farooqi, I.S., Whitehead, J.P., Soos, M.A., Rau, H., Wareham, N.J., Sewter, C.P., Digby, J.E., Mohammed, S.N., Hurst, J.A., Cheetham, C.H., Earley, A.R., Barnett, A.H., Prins, J.B., O'Rahilly, S. Nature (1997)
- Suppressible four-base glycine and proline codons in yeast. Donahue, T.F., Farabaugh, P.J., Fink, G.R. Science (1981)
- Hypermutation in pathogenic bacteria: frequent phase variation in meningococci is a phenotypic trait of a specialized mutator biotype. Bucci, C., Lavitola, A., Salvatore, P., Del Giudice, L., Massardo, D.R., Bruni, C.B., Alifano, P. Mol. Cell (1999)
- Genetic diagnosis of Gaucher's disease. Mistry, P.K., Smith, S.J., Ali, M., Hatton, C.S., McIntyre, N., Cox, T.M. Lancet (1992)
- Genetic and biochemical definition of the bovine papillomavirus E5 transforming protein. Burkhardt, A., DiMaio, D., Schlegel, R. EMBO J. (1987)
- GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Kang, S., Graham, J.M., Olney, A.H., Biesecker, L.G. Nat. Genet. (1997)
- Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Ahn, J., Lüdecke, H.J., Lindow, S., Horton, W.A., Lee, B., Wagner, M.J., Horsthemke, B., Wells, D.E. Nat. Genet. (1995)
- Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Oda, T., Elkahloun, A.G., Pike, B.L., Okajima, K., Krantz, I.D., Genin, A., Piccoli, D.A., Meltzer, P.S., Spinner, N.B., Collins, F.S., Chandrasekharappa, S.C. Nat. Genet. (1997)
- Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Diaz, G.A., Banikazemi, M., Oishi, K., Desnick, R.J., Gelb, B.D. Nat. Genet. (1999)
- Identification of the homologous beige and Chediak-Higashi syndrome genes. Barbosa, M.D., Nguyen, Q.A., Tchernev, V.T., Ashley, J.A., Detter, J.C., Blaydes, S.M., Brandt, S.J., Chotai, D., Hodgman, C., Solari, R.C., Lovett, M., Kingsmore, S.F. Nature (1996)
- Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis. Chadwick, R.B., Jiang, G.L., Bennington, G.A., Yuan, B., Johnson, C.K., Stevens, M.W., Niemann, T.H., Peltomaki, P., Huang, S., de la Chapelle, A. Proc. Natl. Acad. Sci. U.S.A. (2000)
- A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Ars, E., Kruyer, H., Gaona, A., Casquero, P., Rosell, J., Volpini, V., Serra, E., Lázaro, C., Estivill, X. Am. J. Hum. Genet. (1998)
- An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Tassabehji, M., Metcalfe, K., Hurst, J., Ashcroft, G.S., Kielty, C., Wilmot, C., Donnai, D., Read, A.P., Jones, C.J. Hum. Mol. Genet. (1998)
- A cosmid-based system for constructing mutants of herpes simplex virus type 1. Cunningham, C., Davison, A.J. Virology (1993)
- Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Lamhonwah, A.M., Tein, I. Biochem. Biophys. Res. Commun. (1998)