24
results
for author:"Wirth B."
in Literature Citations
| Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hauke J., Riessland M., Lunke S., Eyupoglu I.Y., Blumcke I., El-Osta A., Wirth B., Hahnen E. Hum. Mol. Genet. 18:304-317(2009) · Mapped (1) |
| Congenital heart disease is a feature of severe infantile spinal muscular atrophy. Rudnik-Schoneborn S., Heller R., Berg C., Betzler C., Grimm T., Eggermann T., Eggermann K., Wirth R., Wirth B., Zerres K. J. Med. Genet. 45:635-638(2008) · Mapped (1) |
| Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Oprea G.E., Krober S., McWhorter M.L., Rossoll W., Muller S., Krawczak M., Bassell G.J., Beattie C.E., Wirth B. Science 320:524-527(2008) · Mapped (15) |
| Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Michalk A., Stricker S., Becker J., Rupps R., Pantzar T., Miertus J., Botta G., Naretto V.G., Janetzki C., Yaqoob N. et al. Am. J. Hum. Genet. 82:464-476(2008) · UniProtKB (3) · Mapped (17) |
| Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Brichta L., Garbes L., Jedrzejowska M., Grellscheid S.N., Holker I., Zimmermann K., Wirth B. Hum. Genet. 123:141-153(2008) · Mapped (3) |
| Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Hoepken H.H., Gispert S., Morales B., Wingerter O., Del Turco D., Mulsch A., Nussbaum R.L., Muller K., Drose S., Brandt U. et al. Neurobiol. Dis. 25:401-411(2007) · Mapped (1) |
| Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Rudnik-Schoeneborn S., Botzenhart E., Eggermann T., Senderek J., Schoser B.G.H., Schroeder R., Wehnert M., Wirth B., Zerres K. |
| An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Fyfe J.C., Menotti-Raymond M., David V.A., Brichta L., Schaffer A.A., Agarwala R., Murphy W.J., Wedemeyer W.J., Gregory B.L., Buzzell B.G. et al. Genome Res. 16:1084-1090(2006) · UniProtKB (1) |
| The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB. Schoenen F., Wirth B. Biol. Chem. 387:277-284(2006) · UniProtKB (2) |
| An evolutionary scenario for one of the largest yeast gene families. Despons L., Wirth B., Louis V.L., Potier S., Souciet J.L. Trends Genet. 22:10-15(2006) · Mapped (31) |
| Paleogenomics or the search for remnant duplicated copies of the yeast DUP240 gene family in intergenic areas. Wirth B., Louis V.L., Potier S., Souciet J.-L., Despons L. Mol. Biol. Evol. 22:1764-1771(2005) · UniProtKB (1) · Mapped (2) |
| Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. Sun Y., Grimmler M., Schwarzer V., Schoenen F., Fischer U., Wirth B. |
| Expansion and contraction of the DUP240 multigene family in Saccharomyces cerevisiae populations. Leh-Louis V., Wirth B., Potier S., Souciet J.L., Despons L. Genetics 167:1611-1619(2004) · Mapped (14) |
| Genome evolution in yeasts. Dujon B., Sherman D., Fischer G., Durrens P., Casaregola S., Lafontaine I., de Montigny J., Marck C., Neuveglise C., Talla E. et al. Nature 430:35-44(2004) · UniProtKB (22,853) |
| Differential evolution of the Saccharomyces cerevisiae DUP240 paralogs and implication of recombination in phylogeny. Leh-Louis V., Wirth B., Despons L., Wain-Hobson S., Potier S., Souciet J.-L. Nucleic Acids Res. 32:2069-2078(2004) · UniProtKB (13) |
| Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Helmken C., Hofmann Y., Schoenen F., Oprea G., Raschke H., Rudnik-Schoneborn S., Zerres K., Wirth B. Hum. Genet. 114:11-21(2003) · Mapped (8) |
| Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Feldkotter M., Schwarzer V., Wirth R., Wienker T.F., Wirth B. Am. J. Hum. Genet. 70:358-368(2002) · Mapped (3) |
| Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Jablonka S., Bandilla M., Wiese S., Buhler D., Wirth B., Sendtner M., Fischer U. Hum. Mol. Genet. 10:497-505(2001) · Mapped (11) |
| The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1. Kelter A.R., Herchenbach J., Wirth B. |
| An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). Helmken C., Wetter A., Rudnik-Schoeneborn S., Liehr T., Zerres K., Wirth B. Eur. J. Hum. Genet. 8:493-499(2000) · UniProtKB (1) |
| Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Endrizzi M., Huang S., Scharf J.M., Kelter A.R., Wirth B., Kunkel L.M., Miller W., Dietrich W.F. |
| Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma. von Deimling F., Scharf J.M., Liehr T., Rothe M., Kelter A.-R., Albers P., Dietrich W.F., Kunkel L.M., Wernert N., Wirth B. |
| Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Scharf J.M., Endrizzi M.G., Wetter A., Huang S., Thompson T.G., Zerres K., Dietrich W.F., Wirth B., Kunkel L.M. |
| Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hahnen E., Schoenling J., Rudnik-Schoeneborn S., Raschke H., Zerres K., Wirth B. Hum. Mol. Genet. 6:821-825(1997) · UniProtKB (1) |
