1 - 25 of 37 results for author:"Wirth B." in Literature citations
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| A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Semler O., Garbes L., Keupp K., Swan D., Zimmermann K., Becker J., Iden S., Wirth B., Eysel P., Koerber F. et al. Am. J. Hum. Genet. 91:349-357(2012) · Mapped (1) |
| Tra2beta protein is required for tissue-specific splicing of a smooth muscle myosin phosphatase targeting subunit alternative exon. Fu K., Mende Y., Bhetwal B.P., Baker S., Perrino B.A., Wirth B., Fisher S.A. J. Biol. Chem. 287:16575-16585(2012) · Mapped (3) |
| Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2beta in development. Grellscheid S., Dalgliesh C., Storbeck M., Best A., Liu Y., Jakubik M., Mende Y., Ehrmann I., Curk T., Rossbach K. et al. PLoS Genet. 7:e1002390-e1002390(2011) · Mapped (14) |
| The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. Nolle A., Zeug A., van Bergeijk J., Tonges L., Gerhard R., Brinkmann H., Al Rayes S., Hensel N., Schill Y., Apkhazava D. et al. Hum. Mol. Genet. 20:4865-4878(2011) · Mapped (23) |
| Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Mutsaers C.A., Wishart T.M., Lamont D.J., Riessland M., Schreml J., Comley L.H., Murray L.M., Parson S.H., Lochmuller H., Wirth B. et al. Hum. Mol. Genet. 20:4334-4344(2011) · Mapped (8) |
| Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Becker J., Semler O., Gilissen C., Li Y., Bolz H.J., Giunta C., Bergmann C., Rohrbach M., Koerber F., Zimmermann K. et al. Am. J. Hum. Genet. 88:362-371(2011) · UniProtKB (1) |
| Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Mende Y., Jakubik M., Riessland M., Schoenen F., Rossbach K., Kleinridders A., Kohler C., Buch T., Wirth B. Hum. Mol. Genet. 19:2154-2167(2010) · Mapped (18) |
| Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Fourcade S., Ruiz M., Guilera C., Hahnen E., Brichta L., Naudi A., Portero-Otin M., Dacremont G., Cartier N., Wanders R. et al. Hum. Mol. Genet. 19:2005-2014(2010) · Mapped (5) |
| SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Riessland M., Ackermann B., Forster A., Jakubik M., Hauke J., Garbes L., Fritzsche I., Mende Y., Blumcke I., Hahnen E. et al. Hum. Mol. Genet. 19:1492-1506(2010) · Mapped (8) |
| Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Michaud M., Arnoux T., Bielli S., Durand E., Rotrou Y., Jablonka S., Robert F., Giraudon-Paoli M., Riessland M., Mattei M.G. et al. Neurobiol. Dis. 38:125-135(2010) · Mapped (8) |
| 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 (7) |
| 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 (7) |
| 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 (23) |
| 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 (10) |
| 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 (28) |
| 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 (2) · Mapped (1) |
| 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. |
| 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 (22,848) |
| 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 (15) |