Expanded repeat in canine epilepsy.
Lohi, H., Young E.J., Fitzmauric, S.N., Rusbridge, C., Chan, E.M., Vervoort, M., Turnbull, J., Zhao, X.-C., Ianzano, L., Paterson, A.D., Sutter, N.B., Ostrander, E.A., André, C., Shelton, G.D., Ackerley, C.A., Scherer, S.W. and Minassian, B.A. 2005. Science 307, 81.
PMID: 15637270
Identification of C7orf11 (TTDN1) Gene Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy.
Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., Macdonald, J.R., Puffenberger, E.G., Christiano, A.M., Martinez-Mir, A., Salas-Alanis, J.C., Rizzo, R.,Vamos, E., Raams, A., Les, C., Seboun, E., Jaspers, N.G., Beckmann, J.S., Jackson, C.E. and Scherer, S.W. 2005. American Journal of Human Genetics 76, 510-516.
PMID: 15645389
Endothelial nitric oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast.
Yamada, T., Carson, A.R., Caniggia, I., Umebayashi, K., Yoshimori, T., Nakabayashi, K., Scherer, S.W. 2005. Journal of Biological Chemistry 280, 18283-18290.
PMID: 15755735
Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells.
Minagawa, S., Nakabayashi, K., Fujii, M., Scherer, S.W. and Ayusawa, D. 2005. Experimental Cell Research, 304, 552-558.
PMID: 15748899
Genetic Variation at the ACE Gene Is Associated With Persistent Microalbuminuria and Severe Nephropathy in Type 1 Diabetes: The DCCT/EDIC Genetics Study.
Boright, A.P., Paterson, A.D., Mirea, L., Bull, S.B., Mowjoodi, A., Scherer, S.W. and Zinman, B. 2005. Diabetes, 54, 1238-1244.
PMID: 15793268
Altered expression and deletion of RMO1 in osteosarcoma.
Eppert, K., Wunder, J.S., Aneliunas, V., Tsui, L.C., Scherer, S.W. and Andrulis, I.L. 2005. International Journal of Cancer 114, 738-746.
PMID: 15609301
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Kwasnicka-Crawford, D.A., Carson, A.R., Roberts, W., Summers, A.M., Rehnstrom, K., Jarvela, I. and Scherer, S.W. 2005. Genomics, 86, 182-194.
PMID: 15925480
Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Scherer, S.W., Gripp, K.W., Lucena, J., Nicholson, L., Bonnefont, J.P., Perez-Jurado, L.A. and Osborne, L.R. 2005. Human Genetics, 117, 383-388.
PMID: 15933846
Novel glycogen synthase kinase 3 (GSK3) and ubiquitination pathways in progressive myoclonus epilepsy.
Lohi, H., Ianzano, L., Zhao, X.-C., Chan, E.M., Scherer, S.W., Ackerley, C.A. and Minassian, B.A. 2005. Human Molecular Genetics, 14, 2727-2736.
PMID: 16115820
Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.
Ianzano, L., Zhang, J., Chan, E.M., Zhao, X.-C., Lohi, H., Scherer, S.W. and Minassian, B.A. 2005. Human Mutation, 26, 397.
PMID: 16134145]
Holoprosencephaly and Cleidocranial Dysplasia in a patient due to two position effect mutations: Case report and review of the literature.
Fernandez, B.A., Siegel-Bartelt, J., Herbrick, J.A., Teshima, I. and Scherer, S.W. 2005. Clinical Genetics, 68, 349-359.
PMID: 16143022
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Perez-Jurado LA, Morris CA, Scherer SW, Osborne LR. N Engl J Med. 2005 Oct 20;353(16):1694-701.
PMID: 16236740
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Garcia-Barcelo M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK. Clin Chem. 2006 Jan;52(1):46-52. Epub 2005 Oct 27.
PMID: 16254195]
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. PLoS Genet. 2005 Oct;1(4):e56. Epub 2005 Oct 28.
PMID: 16254605]
Murine segmental duplications are hot spots for chromosome and gene evolution.
Armengol L, Marques-Bonet T, Cheung J, Khaja R, Gonzalez JR, Scherer SW, Navarro A, Estivill X. Genomics. 2005 Dec;86(6):692-700. Epub 2005 Oct 26.
PMID: 16256303