Experts and Doctors on sequence deletion in Salt Lake City, Utah, United States

Summary

Locale: Salt Lake City, Utah, United States
Topic: sequence deletion

Top Publications

  1. Formosa T, Nittis T. Suppressors of the temperature sensitivity of DNA polymerase alpha mutations in Saccharomyces cerevisiae. Mol Gen Genet. 1998;257:461-8 pubmed
    ..We also describe a transposon-mediated strategy that should be generally effective for rapid characterization of multicopy suppressors. ..
  2. Dobrowolski S, McKinney J, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat. 2005;25:306-13 pubmed
    ..These results expand the mutational spectrum in primary carnitine deficiency and indicate dye-binding/high-resolution thermal denaturation as an ideal system to screen for mutations in diseases with no prevalent molecular alteration. ..
  3. Li L, Kaplan J. The yeast gene MSC2, a member of the cation diffusion facilitator family, affects the cellular distribution of zinc. J Biol Chem. 2001;276:5036-43 pubmed
    ..An epitope-tagged Msc2p was localized to the endoplasmic reticulum/nucleus. These results suggest that Msc2p affects the cellular distribution of zinc and, in particular, the zinc content of nuclei. ..
  4. McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J, Stevenson D, et al. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet. 2011;79:335-44 pubmed publisher
    ..We report a case in which a deletion would probably have been missed if large deletion/duplication analysis was performed only if a suspected pathogenic mutation was not first identified by sequencing. ..
  5. Stevenson D, Viskochil D, Rope A, Carey J. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin Genet. 2006;69:246-53 pubmed
    ..We hypothesize that an NF1 mutant allele can lead to diagnostic manifestations of Noonan syndrome, supporting the hypothesis that NF1 allelic heterogeneity causes NFNS. ..
  6. Zhang D, Jennings S, Robinson G, Poulter C. Yeast squalene synthase: expression, purification, and characterization of soluble recombinant enzyme. Arch Biochem Biophys. 1993;304:133-43 pubmed
    ..At higher concentrations, FPP was an inhibitor. The activity of squalene synthase was stimulated by detergents and reached a maximal value of kcat = 3.3 s-1 at 100 microM FPP in the presence of 1% (v/v) Tween 80. ..
  7. van der Woude M, Kaltenbach L, Low D. Leucine-responsive regulatory protein plays dual roles as both an activator and a repressor of the Escherichia coli pap fimbrial operon. Mol Microbiol. 1995;17:303-12 pubmed
    ..Because pap phase variation occurs in the absence of H-NS, it is not clear what role this regulatory protein plays in pap gene regulation. ..
  8. Prahalad S. Negative association between the chemokine receptor CCR5-Delta32 polymorphism and rheumatoid arthritis: a meta-analysis. Genes Immun. 2006;7:264-8 pubmed
    ..0001), suggesting that CCR5-Delta32 is protective against the development of RA. CCR5 blockade in animal models of RA results in amelioration of arthritis, suggesting that CCR5 blockade could also modify disease in patients with RA. ..
  9. Tuohy T, Kidd T, Gesteland R, Atkins J. Uninterrupted translation through putative 12-nucleotide coding gap in sequence of carA: business as usual. J Bacteriol. 1994;176:265-7 pubmed
    ..However, N-terminal protein sequencing of carA-lacZ translational fusions shows that these 12 nucleotides are normally translated in a continuous triplet manner, both in P. aeruginosa and in Escherichia coli. ..
  10. Chen P, Andersson D, Roth J. The control region of the pdu/cob regulon in Salmonella typhimurium. J Bacteriol. 1994;176:5474-82 pubmed
    ..Evidence that each mutation is a deletion creating a new promoter near the normal promoter site of the cob operon is presented...

Detail Information

Publications40

  1. Formosa T, Nittis T. Suppressors of the temperature sensitivity of DNA polymerase alpha mutations in Saccharomyces cerevisiae. Mol Gen Genet. 1998;257:461-8 pubmed
    ..We also describe a transposon-mediated strategy that should be generally effective for rapid characterization of multicopy suppressors. ..
  2. Dobrowolski S, McKinney J, Amat di San Filippo C, Giak Sim K, Wilcken B, Longo N. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat. 2005;25:306-13 pubmed
    ..These results expand the mutational spectrum in primary carnitine deficiency and indicate dye-binding/high-resolution thermal denaturation as an ideal system to screen for mutations in diseases with no prevalent molecular alteration. ..
  3. Li L, Kaplan J. The yeast gene MSC2, a member of the cation diffusion facilitator family, affects the cellular distribution of zinc. J Biol Chem. 2001;276:5036-43 pubmed
    ..An epitope-tagged Msc2p was localized to the endoplasmic reticulum/nucleus. These results suggest that Msc2p affects the cellular distribution of zinc and, in particular, the zinc content of nuclei. ..
  4. McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J, Stevenson D, et al. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet. 2011;79:335-44 pubmed publisher
    ..We report a case in which a deletion would probably have been missed if large deletion/duplication analysis was performed only if a suspected pathogenic mutation was not first identified by sequencing. ..
  5. Stevenson D, Viskochil D, Rope A, Carey J. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin Genet. 2006;69:246-53 pubmed
    ..We hypothesize that an NF1 mutant allele can lead to diagnostic manifestations of Noonan syndrome, supporting the hypothesis that NF1 allelic heterogeneity causes NFNS. ..
  6. Zhang D, Jennings S, Robinson G, Poulter C. Yeast squalene synthase: expression, purification, and characterization of soluble recombinant enzyme. Arch Biochem Biophys. 1993;304:133-43 pubmed
    ..At higher concentrations, FPP was an inhibitor. The activity of squalene synthase was stimulated by detergents and reached a maximal value of kcat = 3.3 s-1 at 100 microM FPP in the presence of 1% (v/v) Tween 80. ..
  7. van der Woude M, Kaltenbach L, Low D. Leucine-responsive regulatory protein plays dual roles as both an activator and a repressor of the Escherichia coli pap fimbrial operon. Mol Microbiol. 1995;17:303-12 pubmed
    ..Because pap phase variation occurs in the absence of H-NS, it is not clear what role this regulatory protein plays in pap gene regulation. ..
  8. Prahalad S. Negative association between the chemokine receptor CCR5-Delta32 polymorphism and rheumatoid arthritis: a meta-analysis. Genes Immun. 2006;7:264-8 pubmed
    ..0001), suggesting that CCR5-Delta32 is protective against the development of RA. CCR5 blockade in animal models of RA results in amelioration of arthritis, suggesting that CCR5 blockade could also modify disease in patients with RA. ..
  9. Tuohy T, Kidd T, Gesteland R, Atkins J. Uninterrupted translation through putative 12-nucleotide coding gap in sequence of carA: business as usual. J Bacteriol. 1994;176:265-7 pubmed
    ..However, N-terminal protein sequencing of carA-lacZ translational fusions shows that these 12 nucleotides are normally translated in a continuous triplet manner, both in P. aeruginosa and in Escherichia coli. ..
  10. Chen P, Andersson D, Roth J. The control region of the pdu/cob regulon in Salmonella typhimurium. J Bacteriol. 1994;176:5474-82 pubmed
    ..Evidence that each mutation is a deletion creating a new promoter near the normal promoter site of the cob operon is presented...
  11. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson J, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805-11 pubmed
    ..The deleted sequences reside in a region that is important for channel inactivation. These data suggest that mutations in SCN5A cause chromosome 3-linked LQT and indicate a likely cellular mechanism for this disorder. ..
  12. Martin M, Vanzo R, Sdano M, Baxter A, South S. Mosaic deletion of 20pter due to rescue by somatic recombination. Am J Med Genet A. 2016;170A:243-8 pubmed publisher
  13. Sangiorgi E, Shuhua Z, Capecchi M. In vivo evaluation of PhiC31 recombinase activity using a self-excision cassette. Nucleic Acids Res. 2008;36:e134 pubmed publisher
    ..This study demonstrates that PhiC31 can be used to automatically remove Neo, in the male chimera germline, although it is not as efficient or as accurate as Cre. ..
  14. Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, et al. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Clin Genet. 2010;78:484-9 pubmed publisher
    ..This finding has important clinical implications because it shows that targeted family-specific mutation analysis for exon deletions could have led to the misdiagnosis of some affected family members. ..
  15. Wittmeyer J, Formosa T. The Saccharomyces cerevisiae DNA polymerase alpha catalytic subunit interacts with Cdc68/Spt16 and with Pob3, a protein similar to an HMG1-like protein. Mol Cell Biol. 1997;17:4178-90 pubmed
    ..Based on these results and because Cdc68 has been implicated as a regulator of chromatin structure, we postulate that polymerase alpha may interact with these proteins to gain access to its template or to origins of replication in vivo. ..
  16. Larsen B, Gesteland R, Atkins J. Structural probing and mutagenic analysis of the stem-loop required for Escherichia coli dnaX ribosomal frameshifting: programmed efficiency of 50%. J Mol Biol. 1997;271:47-60 pubmed
    ..The calculated stabilities of the variant stem-loop structures correlate with frameshifting efficiency. The SD-interaction and the stem-loop element act independently to increase frameshifting in dnaX. ..
  17. Hendrickson B, Judkins T, Ward B, Eliason K, Deffenbaugh A, Burbidge L, et al. Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer. 2005;43:309-13 pubmed
    ..These results provide an accurate picture of the prevalence of these mutations in hereditary breast/ovarian cancer patients undergoing genetic testing in North America. ..
  18. Fish K, Cegielska A, Getman M, Landes G, Virshup D. Isolation and characterization of human casein kinase I epsilon (CKI), a novel member of the CKI gene family. J Biol Chem. 1995;270:14875-83 pubmed
    ..Human CKI epsilon is a novel CKI isoform with properties that overlap those of previously described CKI isoforms. ..
  19. Knight S, Bass B. A role for the RNase III enzyme DCR-1 in RNA interference and germ line development in Caenorhabditis elegans. Science. 2001;293:2269-71 pubmed
    ..Mutant animals have germ line defects that lead to sterility, suggesting that cleavage of dsRNA to short pieces is a requisite event in normal development. ..
  20. Procter M, Chou L, Tang W, Jama M, Mao R. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem. 2006;52:1276-83 pubmed
    ..MS-MA appears to be an efficient primary method to diagnose PWS/AS, and use of the quantitative MS-MLPA method provides detailed information about deletions, rare duplications, and possibly UPD. ..
  21. Gong W, Golic K. Loss of Hsp70 in Drosophila is pleiotropic, with effects on thermotolerance, recovery from heat shock and neurodegeneration. Genetics. 2006;172:275-86 pubmed
    ..Lack of Hsp70 also confers enhanced sensitivity to a temperature-sensitive lethal mutation and to the neurodegenerative effects produced by expression of a human polyglutamine disease protein. ..
  22. Hasstedt S, Xin Y, Mao R, Lewis T, Adams T, Hunt S. A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity. J Obes. 2015;2015:623431 pubmed publisher
    ..One or more of 7 genes residing in a chromosome 20q13.3 CNV region appears to influence BMI. The strongest candidate is ARFRP1, which affects glucose metabolism in mice. ..
  23. Hanson E, Rawlins M, Leibold E. Oxygen and iron regulation of iron regulatory protein 2. J Biol Chem. 2003;278:40337-42 pubmed
  24. Young P, Deveraux Q, Beal R, Pickart C, Rechsteiner M. Characterization of two polyubiquitin binding sites in the 26 S protease subunit 5a. J Biol Chem. 1998;273:5461-7 pubmed
  25. Matsufuji S, Matsufuji T, Miyazaki Y, Murakami Y, Atkins J, Gesteland R, et al. Autoregulatory frameshifting in decoding mammalian ornithine decarboxylase antizyme. Cell. 1995;80:51-60 pubmed
    ..The shift site sequence, UCC-UGA-U, is not similar to other known frameshift sites. The mechanism does not seem to involve re-pairing of peptidyl-tRNA in the new frame but rather reading or occlusion of a fourth base...
  26. Ding L, Bunting M, Topham M, McIntyre T, Zimmerman G, Prescott S. Alternative splicing of the human diacylglycerol kinase zeta gene in muscle. Proc Natl Acad Sci U S A. 1997;94:5519-24 pubmed
    ..We conclude that alternative splicing generates tissue-specific variants of DGKzeta that share some properties but may have unique ones as well. ..
  27. Curran M, Splawski I, Timothy K, Vincent G, Green E, Keating M. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795-803 pubmed
    ..In one kindred, the mutation arose de novo. Northern blot analyses show that HERG is strongly expressed in the heart. These data indicate that HERG is LQT2 and suggest a likely cellular mechanism for torsade de pointes. ..
  28. Macbeth M, Lingam A, Bass B. Evidence for auto-inhibition by the N terminus of hADAR2 and activation by dsRNA binding. RNA. 2004;10:1563-71 pubmed
    ..We propose that the N-terminal domain of hADAR2 contains sequences that cause auto-inhibition of the enzyme. Our results suggest activation requires binding to an RNA substrate long enough to accommodate interactions with both dsRBMs. ..
  29. Teng D, Perry W, Hogan J, Baumgard M, Bell R, Berry S, et al. Human mitogen-activated protein kinase kinase 4 as a candidate tumor suppressor. Cancer Res. 1997;57:4177-82 pubmed
    ..Thus, the incidence of coding mutations of MKK4 in the set of cell lines is 6 of 213 (approximately 3%). These findings suggest that MKK4 may function as a suppressor of tumorigenesis or metastasis in certain types of cells. ..
  30. Wang Q, Curran M, Splawski I, Burn T, Millholland J, VanRaay T, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996;12:17-23 pubmed
    ..These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death. ..
  31. Chen J, Mitcheson J, Tristani Firouzi M, Lin M, Sanguinetti M. The S4-S5 linker couples voltage sensing and activation of pacemaker channels. Proc Natl Acad Sci U S A. 2001;98:11277-82 pubmed
    ..Our findings also suggest that opening of HCN and related channels corresponds to activation of a gate located near the inner pore, rather than recovery of channels from a C-type inactivated state. ..
  32. Avasthi P, Scheel J, Ying G, Frederick J, Baehr W, Wolfrum U. Germline deletion of Cetn1 causes infertility in male mice. J Cell Sci. 2013;126:3204-13 pubmed publisher
    ..These results confirm an essential role for CETN1 in late steps of spermiogenesis and spermatid maturation. ..
  33. Kieffer C, Skalicky J, Morita E, De Domenico I, Ward D, Kaplan J, et al. Two distinct modes of ESCRT-III recognition are required for VPS4 functions in lysosomal protein targeting and HIV-1 budding. Dev Cell. 2008;15:62-73 pubmed publisher
  34. Hu R, Wallace J, Dahlem T, Grunwald D, O Connell R. Targeting human microRNA genes using engineered Tal-effector nucleases (TALENs). PLoS ONE. 2013;8:e63074 pubmed publisher
  35. Glass M, Jia X, Summers D. Identification of the hepatitis A virus internal ribosome entry site: in vivo and in vitro analysis of bicistronic RNAs containing the HAV 5' noncoding region. Virology. 1993;193:842-52 pubmed
    ..The presence of the cap group on the RNA 5'terminus of the RNA led to a greater ability of this RNA to translate than the RNA containing the HAV IRES. ..
  36. Chance P, Alderson M, Leppig K, Lensch M, Matsunami N, Smith B, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993;72:143-51 pubmed
    ..Furthermore, the breakpoints in HNPP and CMT1A map to the same intervals in 17p11.2, suggesting that these genetic disorders may be the result of reciprocal products of unequal crossover. ..
  37. Graden J, Winge D. Copper-mediated repression of the activation domain in the yeast Mac1p transcription factor. Proc Natl Acad Sci U S A. 1997;94:5550-5 pubmed
    ..Thus, Cu-regulation of Mac1p function arises from a novel Cu-specific repression of the transactivation domain function. Models for the mechanism of Cu-repression of Mac1p function will be discussed. ..
  38. Larsen B, Wills N, Gesteland R, Atkins J. rRNA-mRNA base pairing stimulates a programmed -1 ribosomal frameshift. J Bacteriol. 1994;176:6842-51 pubmed
    ..Shine-Dalgarno interactions by elongating ribosomes are likely to be used in stimulating -1 frameshifting in the decoding of a variety of genes. ..
  39. Hoffman L, Jensen C, Chaturvedi A, Yoshigi M, Beckerle M. Stretch-induced actin remodeling requires targeting of zyxin to stress fibers and recruitment of actin regulators. Mol Biol Cell. 2012;23:1846-59 pubmed publisher
    ..Our findings define a bipartite mechanism for stretch-induced actin remodeling that involves mechanosensitive targeting of zyxin to actin stress fibers and localized recruitment of actin regulatory machinery...
  40. Ewart A, Morris C, Atkinson D, Jin W, Sternes K, Spallone P, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11-6 pubmed
    ..These data indicate that deletions involving one elastin allele cause WS and implicate elastin hemizygosity in the pathogenesis of the disease. ..