Below are the most recent publications written about "Codon, Terminator" by people in Profiles.
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Horev L, Wollina DU, Potikha T, Hafner A, Ingber A, Liu L, McGrath JA, Zlotogorski A. Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol. 2009; 89(5):528-9.
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Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, Cohen M, Nissim-Rafinia M, Blau H, Rivlin J, Aviram M, Elfring GL, Northcutt VJ, Miller LL, Kerem B, Wilschanski M. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet. 2008 Aug 30; 372(9640):719-27.
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Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WH. A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol. 2007 Feb; 127(2):298-300.
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Martin ST, Matsubayashi H, Rogers CD, Philips J, Couch FJ, Brune K, Yeo CJ, Kern SE, Hruban RH, Goggins M. Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene. 2005 May 19; 24(22):3652-6.
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McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA, Phillips RJ. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003 Sep 15; 12(18):2395-409.
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Donoso LA, Edwards AO, Frost AT, Ritter R, Ahmad NN, Vrabec T, Rogers J, Meyer D. Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. Am J Ophthalmol. 2002 Nov; 134(5):720-7.
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Dang M, Pulkkinen L, Smith FJ, McLean WH, Uitto J. Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. Lab Invest. 1998 Feb; 78(2):195-204.
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Shimozawa N, Suzuki Y, Tomatsu S, Nakamura H, Kono T, Takada H, Tsukamoto T, Fujiki Y, Orii T, Kondo N. A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. Hum Mutat. 1998; Suppl 1:S134-6.
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McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997 Oct; 17(2):240-4.
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Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, Yancey KB. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1997 Apr; 108(4):463-8.