Experts and Doctors on sequence deletion in Milwaukee, Wisconsin, United States


Locale: Milwaukee, Wisconsin, United States
Topic: sequence deletion

Top Publications

  1. Banerjee B, Kurup V, Greenberger P, Kelly K, Fink J. C-terminal cysteine residues determine the IgE binding of Aspergillus fumigatus allergen Asp f 2. J Immunol. 2002;169:5137-44 pubmed
    ..The hypoallergenic variants may be explored further to develop safe immunotherapeutic strategy for allergic disorders. ..
  2. Krall R, Zhang Y, Barbieri J. Intracellular membrane localization of pseudomonas ExoS and Yersinia YopE in mammalian cells. J Biol Chem. 2004;279:2747-53 pubmed
    ..These data indicate that the YopE MLD functionally complements the ExoS MLD for intracellular targeting in mammalian cells. ..
  3. Tandon A, Jefferies J, Villa C, Hor K, Wong B, Ware S, et al. Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging. Am J Cardiol. 2015;115:967-71 pubmed publisher
    ..Genotype-phenotype correlations may help predict the cardiac phenotype for dystrophinopathic patients and guide future therapies. ..
  4. Zhang Y, Barbieri J. A leucine-rich motif targets Pseudomonas aeruginosa ExoS within mammalian cells. Infect Immun. 2005;73:7938-45 pubmed
    ..This implies a role for intracellular targeting in the efficient targeting of mammalian cells by type III cytotoxins. ..
  5. Protas M, Weh E, Footz T, Kasberger J, Baraban S, Levin A, et al. Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Hum Mol Genet. 2017;26:3630-3638 pubmed publisher
    ..Improved functional annotation of the human genome and transition to sequencing of patient genomes instead of exomes will be required before the magnitude of this class of mutations is fully understood. ..
  6. Rwere F, Xia C, Im S, Haque M, Stuehr D, Waskell L, et al. Mutants of Cytochrome P450 Reductase Lacking Either Gly-141 or Gly-143 Destabilize Its FMN Semiquinone. J Biol Chem. 2016;291:14639-61 pubmed publisher
  7. Yao Q, Liu K, Gale R, Jiang B, Liu Y, Jiang Q, et al. Prognostic impact of IKZF1 deletion in adults with common B-cell acute lymphoblastic leukemia. BMC Cancer. 2016;16:269 pubmed publisher
    ..The trial was registered in 2007 with the Beijing Municipal Government (Beijing Municipal Health Bureau Registration N: 2007-1007). ..
  8. Fogerty J, Besharse J. 174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy. Invest Ophthalmol Vis Sci. 2011;52:7256-66 pubmed publisher
    ..These mice will be useful to identify a function of MFRP and to study the pathogenesis of atrophic macular degeneration. ..
  9. Li N, Rosenblatt D, Kamen B, Seetharam S, Seetharam B. Identification of two mutant alleles of transcobalamin II in an affected family. Hum Mol Genet. 1994;3:1835-40 pubmed
    ..The present study has identified molecular defects that cause TC II deficiency and lead to intracellular Cbl deficiency in humans. ..

More Information


  1. Volkmann B, Zinkevich N, Mustonen A, Schilter K, Bosenko D, Reis L, et al. Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Invest Ophthalmol Vis Sci. 2011;52:1450-9 pubmed publisher
    ..Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease...
  2. Kaur J, Stuart R. Truncation of the Mrp20 protein reveals new ribosome-assembly subcomplex in mitochondria. EMBO Rep. 2011;12:950-5 pubmed publisher
    ..Finally, data supporting the idea that the inner mitochondrial membrane acts as a platform for the ribosome assembly process are discussed. ..
  3. Charania M, Brockman K, Zhang Y, Banerjee A, Pinchuk G, Fredrickson J, et al. Involvement of a membrane-bound class III adenylate cyclase in regulation of anaerobic respiration in Shewanella oneidensis MR-1. J Bacteriol. 2009;191:4298-306 pubmed publisher
    ..Our results indicated that CyaC plays a major role in regulating anaerobic respiration and may contribute to additional signaling pathways independent of CRP. ..
  4. Ristow L, Bonde M, Lin Y, Sato H, Curtis M, Wesley E, et al. Integrin binding by Borrelia burgdorferi P66 facilitates dissemination but is not required for infectivity. Cell Microbiol. 2015;17:1021-36 pubmed publisher
    ..burgdorferi, which is critical to its ability to cause disease manifestations in incidental hosts and to its maintenance in the enzootic cycle. ..
  5. Balza R, Misra R. Role of the serum response factor in regulating contractile apparatus gene expression and sarcomeric integrity in cardiomyocytes. J Biol Chem. 2006;281:6498-510 pubmed
  6. Fu Z, Wang M, Paschke R, Rao K, Frerman F, KIM J. Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. Biochemistry. 2004;43:9674-84 pubmed
    ..Some pathogenic mutations are explained by the structure. The mutations affect protein folding, stability, and/or substrate binding, resulting in inefficient/inactive enzyme. ..
  7. Parviz F, Li J, Kaestner K, Duncan S. Generation of a conditionally null allele of hnf4alpha. Genesis. 2002;32:130-3 pubmed
  8. Rhodes R, Pucker H, McBride M. Development and use of a gene deletion strategy for Flavobacterium johnsoniae to identify the redundant gliding motility genes remF, remG, remH, and remI. J Bacteriol. 2011;193:2418-28 pubmed publisher
    ..The rpsL counterselection strategy allows construction of unmarked mutations to determine the functions of individual motility proteins or to analyze other aspects of F. johnsoniae physiology. ..
  9. Spangenberg D, Waring G. A mutant dec-1 transgene induces dominant female sterility in Drosophila melanogaster. Genetics. 2007;177:1595-608 pubmed
    ..Changes in the fractionation behavior of the endogenous fc106 C-terminal derivative, s60, and morphological changes in the endochorion in response to expression of the aberrant proprotein support this interpretation. ..
  10. Jia L, Dienhart M, Schramp M, McCauley M, Hell K, Stuart R. Yeast Oxa1 interacts with mitochondrial ribosomes: the importance of the C-terminal region of Oxa1. EMBO J. 2003;22:6438-47 pubmed
    ..Mrp20 is homologous to L23, a subunit located next to the peptide exit tunnel of the ribosome. We propose that the interaction of Oxa1 with the ribosome serves to enhance a coupling of translation and membrane insertion events. ..
  11. Kenny D, Morateck P, Gill J, Montgomery R. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome. Blood. 1999;93:2968-75 pubmed
    ..The interaction of GPIbbeta with GPIX is essential for the functional expression of GPIbalpha. ..