MeSH Review:
Polymorphism, Single-Stranded Conformational
- p53 abnormalities in primary prostate cancer: single-strand conformation polymorphism analysis of complementary DNA in comparison with genomic DNA. The Cooperative Prostate Network. Gumerlock, P.H., Chi, S.G., Shi, X.B., Voeller, H.J., Jacobson, J.W., Gelmann, E.P., deVere White, R.W. J. Natl. Cancer Inst. (1997)
- Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. Wu, J., Wilson, J., He, J., Xiang, L., Schur, P.H., Mountz, J.D. J. Clin. Invest. (1996)
- Mutated epithelial cadherin is associated with increased tumorigenicity and loss of adhesion and of responsiveness to the motogenic trefoil factor 2 in colon carcinoma cells. Efstathiou, J.A., Liu, D., Wheeler, J.M., Kim, H.C., Beck, N.E., Ilyas, M., Karayiannakis, A.J., Mortensen, N.J., Kmiot, W., Playford, R.J., Pignatelli, M., Bodmer, W.F. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Vargas-Poussou, R., Feldmann, D., Vollmer, M., Konrad, M., Kelly, L., van den Heuvel, L.P., Tebourbi, L., Brandis, M., Karolyi, L., Hebert, S.C., Lemmink, H.H., Deschênes, G., Hildebrandt, F., Seyberth, H.W., Guay-Woodford, L.M., Knoers, N.V., Antignac, C. Am. J. Hum. Genet. (1998)
- Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Braun, A., Ambach, H., Kammerer, S., Rolinski, B., Stöckler, S., Rabl, W., Gärtner, J., Zierz, S., Roscher, A.A. Am. J. Hum. Genet. (1995)
- TP53 mutation pattern of esophageal squamous cell carcinomas in a high risk area (Southern Brazil): role of life style factors. Pütz, A., Hartmann, A.A., Fontes, P.R., Alexandre, C.O., Silveira, D.A., Klug, S.J., Rabes, H.M. Int. J. Cancer (2002)
- Alleic variants of human melatonin 1a receptor: function and prevalence in subjects with circadian rhythm sleep disorders. Ebisawa, T., Kajimura, N., Uchiyama, M., Katoh, M., Sekimoto, M., Watanabe, T., Ozeki, Y., Ikeda, M., Jodoi, T., Sugishita, M., Iwase, T., Kamei, Y., Kim, K., Shibui, K., Kudo, Y., Yamada, N., Toyoshima, R., Okawa, M., Takahashi, K., Yamauchi, T. Biochem. Biophys. Res. Commun. (1999)
- Missense mutation of the cholecystokinin B receptor gene: lack of association with panic disorder. Kato, T., Wang, Z.W., Zoega, T., Crowe, R.R. Am. J. Med. Genet. (1996)
- The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Bhalla, K., Phillips, H.A., Crawford, J., McKenzie, O.L., Mulley, J.C., Eyre, H., Gardner, A.E., Kremmidiotis, G., Callen, D.F. J. Hum. Genet. (2004)
- Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossmann, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L., Kelley, R.I., Valle, D. Nat. Genet. (1999)
- BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Petrij-Bosch, A., Peelen, T., van Vliet, M., van Eijk, R., Olmer, R., Drüsedau, M., Hogervorst, F.B., Hageman, S., Arts, P.J., Ligtenberg, M.J., Meijers-Heijboer, H., Klijn, J.G., Vasen, H.F., Cornelisse, C.J., van 't Veer, L.J., Bakker, E., van Ommen, G.J., Devilee, P. Nat. Genet. (1997)
- Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Hecht, J.T., Nelson, L.D., Crowder, E., Wang, Y., Elder, F.F., Harrison, W.R., Francomano, C.A., Prange, C.K., Lennon, G.G., Deere, M. Nat. Genet. (1995)
- Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Reardon, W., Winter, R.M., Rutland, P., Pulleyn, L.J., Jones, B.M., Malcolm, S. Nat. Genet. (1994)
- DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. MacCollin, M., Mohney, T., Trofatter, J., Wertelecki, W., Ramesh, V., Gusella, J. JAMA (1993)
- A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Heine, R., Pika, U., Lehmann-Horn, F. Hum. Mol. Genet. (1993)
- Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. Nuytinck, L., De Paepe, A., Renard, J.P., Adriaens, F., Leroy, J. Hum. Mutat. (1994)
- Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects. Shimada, F., Makino, H., Iwaoka, H., Miyamoto, S., Hashimoto, N., Kanatsuka, A., Bell, G.I., Yoshida, S. Diabetologia (1995)
- Infrequent mutation of Ha-ras and p53 in rat mammary carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. Ushijima, T., Kakiuchi, H., Makino, H., Hasegawa, R., Ishizaka, Y., Hirai, H., Yazaki, Y., Ito, N., Sugimura, T., Nagao, M. Mol. Carcinog. (1994)
- Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. Platz, A., Hansson, J., Månsson-Brahme, E., Lagerlof, B., Linder, S., Lundqvist, E., Sevigny, P., Inganäs, M., Ringborg, U. J. Natl. Cancer Inst. (1997)
- Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. Shen, J., Bao, Y., Liu, H.M., Lee, P., Leonard, J.V., Chen, Y.T. J. Clin. Invest. (1996)
- Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Górski, B., Byrski, T., Huzarski, T., Jakubowska, A., Menkiszak, J., Gronwald, J., Pluzańska, A., Bebenek, M., Fischer-Maliszewska, L., Grzybowska, E., Narod, S.A., Lubiński, J. Am. J. Hum. Genet. (2000)
- Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Elsas, L.J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J.L., Brown, A., Singh, R., Fernhoff, P., Hjelm, L.N., Dembure, P.P. Am. J. Hum. Genet. (1995)
- Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. Bicknell, D.C., Rowan, A., Bodmer, W.F. Proc. Natl. Acad. Sci. U.S.A. (1994)
- Mutations in the Fas antigen in patients with multiple myeloma. Landowski, T.H., Qu, N., Buyuksal, I., Painter, J.S., Dalton, W.S. Blood (1997)
- A novel insertional mutation in the TC21 gene activates its transforming activity in a human leiomyosarcoma cell line. Huang, Y., Saez, R., Chao, L., Santos, E., Aaronson, S.A., Chan, A.M. Oncogene (1995)
- Prevalence of mutations of ras and p53 in benign and malignant thyroid tumors from children exposed to radiation after the Chernobyl nuclear accident. Nikiforov, Y.E., Nikiforova, M.N., Gnepp, D.R., Fagin, J.A. Oncogene (1996)
- PTCH gene mutations in invasive transitional cell carcinoma of the bladder. McGarvey, T.W., Maruta, Y., Tomaszewski, J.E., Linnenbach, A.J., Malkowicz, S.B. Oncogene (1998)
- Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. Kralovics, R., Sokol, L., Prchal, J.T. J. Clin. Invest. (1998)
- Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Triggs-Raine, B.L., Akerman, B.R., Clarke, J.T., Gravel, R.A. Am. J. Hum. Genet. (1991)
- Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Bleyl, S.B., Mumford, B.R., Thompson, V., Carey, J.C., Pysher, T.J., Chin, T.K., Ward, K. Am. J. Hum. Genet. (1997)
- Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. Kondo, S., Tokunaga, F., Kawano, S., Oono, Y., Kumagai, S., Koide, T. Blood (1999)
- Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Batch, J.A., Williams, D.M., Davies, H.R., Brown, B.D., Evans, B.A., Hughes, I.A., Patterson, M.N. Hum. Mol. Genet. (1992)
- Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. Phillips, K.A., Nichol, K., Ozcelik, H., Knight, J., Done, S.J., Goodwin, P.J., Andrulis, I.L. J. Natl. Cancer Inst. (1999)
- Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). Lloyd, S.E., Pearce, S.H., Günther, W., Kawaguchi, H., Igarashi, T., Jentsch, T.J., Thakker, R.V. J. Clin. Invest. (1997)
- Characterization of mutations in patients with multiple endocrine neoplasia type 1. Bassett, J.H., Forbes, S.A., Pannett, A.A., Lloyd, S.E., Christie, P.T., Wooding, C., Harding, B., Besser, G.M., Edwards, C.R., Monson, J.P., Sampson, J., Wass, J.A., Wheeler, M.H., Thakker, R.V. Am. J. Hum. Genet. (1998)
- Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Mirzayans, F., Pearce, W.G., MacDonald, I.M., Walter, M.A. Am. J. Hum. Genet. (1995)
- New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Li, H., Chen, Q., Moss, A.J., Robinson, J., Goytia, V., Perry, J.C., Vincent, G.M., Priori, S.G., Lehmann, M.H., Denfield, S.W., Duff, D., Kaine, S., Shimizu, W., Schwartz, P.J., Wang, Q., Towbin, J.A. Circulation (1998)
- Chronic lymphocytic leukemia cells with allelic deletions at 13q14 commonly have one intact RB1 gene: evidence for a role of an adjacent locus. Liu, Y., Szekely, L., Grandér, D., Söderhäll, S., Juliusson, G., Gahrton, G., Linder, S., Einhorn, S. Proc. Natl. Acad. Sci. U.S.A. (1993)
- Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Serova, O.M., Mazoyer, S., Puget, N., Dubois, V., Tonin, P., Shugart, Y.Y., Goldgar, D., Narod, S.A., Lynch, H.T., Lenoir, G.M. Am. J. Hum. Genet. (1997)
- p53 mutation is associated with progression in follicular lymphomas. Sander, C.A., Yano, T., Clark, H.M., Harris, C., Longo, D.L., Jaffe, E.S., Raffeld, M. Blood (1993)
- Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder. Veenstra-VanderWeele, J., Kim, S.J., Gonen, D., Hanna, G.L., Leventhal, B.L., Cook, E.H. Mol. Psychiatry (2001)
- Analysis of the FHIT gene and its product in squamous cell carcinomas of the head and neck. Kisielewski, A.E., Xiao, G.H., Liu, S.C., Klein-Szanto, A.J., Novara, M., Sina, J., Bleicher, K., Yeung, R.S., Goodrow, T.L. Oncogene (1998)