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


Locale: Salt Lake City, Utah, United States
Topic: mutation

Top Publications

  1. Dickinson W, Thatcher J. Morphogenesis of denticles and hairs in Drosophila embryos: involvement of actin-associated proteins that also affect adult structures. Cell Motil Cytoskeleton. 1997;38:9-21 pubmed
    ..We suggest that interactions between these and other actin-associated proteins are important in generating the diverse shapes of the cuticular specializations seen in both larvae and adults. ..
  2. D Avino P, Thummel C. crooked legs encodes a family of zinc finger proteins required for leg morphogenesis and ecdysone-regulated gene expression during Drosophila metamorphosis. Development. 1998;125:1733-45 pubmed
    ..The genetic criteria described here provide a new direction for identifying regulators of adult tissue development during insect metamorphosis. ..
  3. Chou L, Gedge F, Lyon E. Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model. J Mol Diagn. 2005;7:111-20 pubmed
    ..TGCE automation and high-throughput capability can be implemented in a clinical environment for mutation scanning with high sensitivity, thus reducing sequencing cost and effort. ..
  4. Chen Y, Beck A, Davenport C, Chen Y, Shattuck D, Tavtigian S. Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z. BMC Mol Biol. 2005;6:12 pubmed
    ..Our results provide genetic evidence that prostate cancer susceptibility gene ELAC2 may be involved in RNA processing, especially rRNA processing and mitochondrial function. ..
  5. Davis M, Hammarlund M, Harrach T, Hullett P, Olsen S, Jorgensen E. Rapid single nucleotide polymorphism mapping in C. elegans. BMC Genomics. 2005;6:118 pubmed
    ..Together, the reagents and methods described represent a significant advance in the accurate, rapid and inexpensive mapping of genes in C. elegans. ..
  6. Gurvich O, Tuohy T, Howard M, Finkel R, Medne L, Anderson C, et al. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol. 2008;63:81-9 pubmed
    ..AON-mediated pseudoexon skipping therapy is a viable approach to these patients and would be predicted to result in increased expression of wild-type dystrophin protein. ..
  7. Westenskow P, Piccolo S, Fuhrmann S. Beta-catenin controls differentiation of the retinal pigment epithelium in the mouse optic cup by regulating Mitf and Otx2 expression. Development. 2009;136:2505-10 pubmed publisher
  8. Salek J, Byrne J, Box T, Longo N, Sussman N. Recurrent liver failure in a 25-year-old female. Liver Transpl. 2010;16:1049-53 pubmed publisher
    ..Our case illustrates the importance of screening patients with idiopathic ALF for a metabolic disorder. A prompt diagnosis and timely treatment enabled her to recover fully without the need for liver transplantation. ..
  9. Zhang H, Constantine R, Vorobiev S, Chen Y, Seetharaman J, Huang Y, et al. UNC119 is required for G protein trafficking in sensory neurons. Nat Neurosci. 2011;14:874-80 pubmed publisher
    ..UNC119 deletion in both mouse and C. elegans led to G protein mislocalization. Thus, UNC119 is a Gα subunit cofactor essential for G protein trafficking in sensory cilia. ..

More Information

Publications402 found, 100 shown here

  1. Khalimonchuk O, Jeong M, Watts T, Ferris E, Winge D. Selective Oma1 protease-mediated proteolysis of Cox1 subunit of cytochrome oxidase in assembly mutants. J Biol Chem. 2012;287:7289-300 pubmed publisher
    ..Specific Cox1 proteolysis in coa2? cells arises from a combination of Oma1 activation and a susceptible conformation of Cox1. ..
  2. Roof D, Roth J. Autogenous regulation of ethanolamine utilization by a transcriptional activator of the eut operon in Salmonella typhimurium. J Bacteriol. 1992;174:6634-43 pubmed
    ..In mutants with an increased level of activator protein, each inducer (B12 or ethanolamine), presented singly, is sufficient for partial operon induction...
  3. Barrows L, Holden J, Anderson M, D ARPA P. The CHO XRCC1 mutant, EM9, deficient in DNA ligase III activity, exhibits hypersensitivity to camptothecin independent of DNA replication. Mutat Res. 1998;408:103-10 pubmed
    ..Mechanistic models for the replication-independent cytotoxicity of camptothecin in EM9 cells are discussed. ..
  4. Price Carter M, Tingey J, Bobik T, Roth J. The alternative electron acceptor tetrathionate supports B12-dependent anaerobic growth of Salmonella enterica serovar typhimurium on ethanolamine or 1,2-propanediol. J Bacteriol. 2001;183:2463-75 pubmed
    ..coli. In diverging from E. coli, Salmonella acquired some of these genes unilaterally and maintained others that are ancestral but have been lost from the E. coli lineage...
  5. Mu H, Sawitzke A, Cole B. Presence of Lps(d) mutation influences cytokine regulation in vivo by the Mycoplasma arthritidis mitogen superantigen and lethal toxicity in mice infected with M. arthritidis. Infect Immun. 2001;69:3837-44 pubmed
    ..arthritidis organisms. Our results suggest that MAM interacts with the lipopolysaccharide signaling pathway, possibly involving TLR4 or a combinatorial Toll complex. ..
  6. Chevance F, Karlinsey J, Wozniak C, Hughes K. A little gene with big effects: a serT mutant is defective in flgM gene translation. J Bacteriol. 2006;188:297-304 pubmed publisher
    ..The flgM gene contains only one UCA codon. Changing the UCA of flgM to ACG reversed the effect of the serT allele. Implications for context effects in regulation of gene expression are discussed...
  7. Modzelewska K, Elgort M, Huang J, Jongeward G, Lauritzen A, Yoon C, et al. An activating mutation in sos-1 identifies its Dbl domain as a critical inhibitor of the epidermal growth factor receptor pathway during Caenorhabditis elegans vulval development. Mol Cell Biol. 2007;27:3695-707 pubmed
    ..Our work suggests that functionally similar point mutations in humans could directly contribute to disease. ..
  8. De Domenico I, Vaughn M, Yoon D, Kushner J, Ward D, Kaplan J. Zebrafish as a model for defining the functional impact of mammalian ferroportin mutations. Blood. 2007;110:3780-3 pubmed
    ..Expression of wild-type ferroportin or hepcidin-resistant ferroportin (N144H) does not affect erythropoiesis. Zebrafish provides a facile way of identifying which ferroportin mutants may lead to macrophage iron loading. ..
  9. Takahata S, Yu Y, Stillman D. The E2F functional analogue SBF recruits the Rpd3(L) HDAC, via Whi5 and Stb1, and the FACT chromatin reorganizer, to yeast G1 cyclin promoters. EMBO J. 2009;28:3378-89 pubmed publisher
    ..Thus, SBF recruits complexes to promoters that either enhance (FACT) or repress (Rpd3L) accessibility to chromatin, and also recruits the kinase that activates START. ..
  10. Zhou T, Zhang Y, Macchiarulo A, Yang Z, Cellanetti M, Coto E, et al. Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes. J Biol Chem. 2010;285:24871-81 pubmed publisher
    ..This study suggests that genetic variations in SHP are common among human subjects and the Lys-170 residue plays a key role in controlling SHP ubiquitination and acetylation associated with SHP protein stability and repressive function. ..
  11. Szankasi P, Ho A, Bahler D, Efimova O, Kelley T. Combined testing for CCAAT/enhancer-binding protein alpha (CEBPA) mutations and promoter methylation in acute myeloid leukemia demonstrates shared phenotypic features. Leuk Res. 2011;35:200-7 pubmed publisher
    ..Our study suggests that methylation testing may be as important as mutation testing for identifying AML cases with CEBPA dysregulation and may be indicated in the routine prognostic workup of AML. ..
  12. Sieber M, Thummel C. Coordination of triacylglycerol and cholesterol homeostasis by DHR96 and the Drosophila LipA homolog magro. Cell Metab. 2012;15:122-7 pubmed publisher
  13. Casjens S, Mongodin E, Qiu W, Luft B, Schutzer S, Gilcrease E, et al. Genome stability of Lyme disease spirochetes: comparative genomics of Borrelia burgdorferi plasmids. PLoS ONE. 2012;7:e33280 pubmed publisher
    ..In spite of these rearrangements and differences in plasmid contents, the overall gene complement of the different isolates has remained relatively constant...
  14. Kuttan A, Bass B. Mechanistic insights into editing-site specificity of ADARs. Proc Natl Acad Sci U S A. 2012;109:E3295-304 pubmed publisher
    ..Our studies set the stage for understanding the basis of altered editing levels in disease and for developing therapeutic reagents. ..
  15. Jou C, Barnett S, Bian J, Weng H, Sheng X, Tristani Firouzi M. An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013;112:826-30 pubmed publisher
  16. Hill J, Demarest B, Gorsi B, Smith M, Yost H. Heart morphogenesis gene regulatory networks revealed by temporal expression analysis. Development. 2017;144:3487-3498 pubmed publisher
    ..This dataset provides an essential resource for future studies on the genetic/epigenetic pathways implicated in congenital heart defects and the mechanisms of cardiac transcriptional regulation. ..
  17. Zhu N, Olivera B, Roth J. Genetic characterization of the pnuC gene, which encodes a component of the nicotinamide mononucleotide transport system in Salmonella typhimurium. J Bacteriol. 1989;171:4402-9 pubmed
    ..The nadA pnuC operon is regulated by the NadI repressor. The pnuC gene also has its own promoter, since strains with a nadA::Tn10d(Tc) insertion still express the pnuC gene at a low, unregulated level. ..
  18. Mathews M, Schubert H, Whitby F, Alexander K, Schadick K, Bergonia H, et al. Crystal structure of human uroporphyrinogen III synthase. EMBO J. 2001;20:5832-9 pubmed
    ..Additionally, six other highly conserved and titratable side chains were also mutated. In no case, however, did one of these mutations abolish enzyme activity, suggesting that the mechanism does not require acid/base catalysis. ..
  19. Piper D, Rupp J, Sachse F, Sanguinetti M, Tristani Firouzi M. Cooperative interactions between R531 and acidic residues in the voltage sensing module of hERG1 channels. Cell Physiol Biochem. 2008;21:37-46 pubmed publisher
    ..We propose that hERG1 activation involves a cooperative conformational change involving the entire voltage sensing module, while inactivation may involve a more limited interaction between R531 and D456, D460 and D509. ..
  20. Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson M, et al. The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia. Nat Genet. 2017;49:1211-1218 pubmed publisher
    ..This genomic landscape provides a logical framework for the development of faithful genetic models and new therapeutic approaches. ..
  21. Li L, Kaplan J. Defects in the yeast high affinity iron transport system result in increased metal sensitivity because of the increased expression of transporters with a broad transition metal specificity. J Biol Chem. 1998;273:22181-7 pubmed
    ..These results suggest that vacuolar function may not be required for transition metal sequestration. ..
  22. Rettberg C, Prere M, Gesteland R, Atkins J, Fayet O. A three-way junction and constituent stem-loops as the stimulator for programmed -1 frameshifting in bacterial insertion sequence IS911. J Mol Biol. 1999;286:1365-78 pubmed
    ..Structural probing and thermal melting profiles indicate that the disrupted three-way junctions have altered structures. ..
  23. Wellik D, Capecchi M. Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton. Science. 2003;301:363-7 pubmed
    ..The redundancy among these paralogous family members is so great that this global aspect of Hox patterning is not apparent in mice that are mutant for five of the six paralogous alleles. ..
  24. Gorbea C, Makar K, Pauschinger M, Pratt G, Bersola J, Varela J, et al. A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy. J Biol Chem. 2010;285:23208-23 pubmed publisher
    ..These data suggest that individuals harboring these variants may have a blunted innate immune response to enteroviral infection, leading to reduced viral clearance and an increased risk of cardiac pathology...
  25. Slattery M, Lundgreen A, Herrick J, Caan B, Potter J, Wolff R. Associations between genetic variation in RUNX1, RUNX2, RUNX3, MAPK1 and eIF4E and riskof colon and rectal cancer: additional support for a TGF-?-signaling pathway. Carcinogenesis. 2011;32:318-26 pubmed publisher
    ..47 (95% CI 1.58, 35.3). Although the associations need confirmation, the findings and their internal consistency underline the importance of genetic variation in these genes for the etiology of CRC. ..
  26. Ang D, Georgopoulos C. An ORFan no more: the bacteriophage T4 39.2 gene product, NwgI, modulates GroEL chaperone function. Genetics. 2012;190:989-1000 pubmed publisher
    ..2 deletion strain and showed that, unlike the isogenic wild-type parent, it is incapable of propagating on certain groEL mutant hosts. We propose a model of how Gp39.2 modulates GroES/GroEL function. ..
  27. Woessner D, Lim C. Disrupting BCR-ABL in combination with secondary leukemia-specific pathways in CML cells leads to enhanced apoptosis and decreased proliferation. Mol Pharm. 2013;10:270-7 pubmed publisher
    ..This study has elucidated possible combination therapies for CML using novel blockade of BCR-ABL and secondary leukemia-specific pathways. ..
  28. Lanikova L, Lorenzo F, Yang C, Vankayalapati H, Drachtman R, Divoky V, et al. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer. Blood. 2013;121:3918-24 pubmed publisher
    ..Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes. ..
  29. Wambaugh M, Shakya V, Lewis A, Mulvey M, Brown J. High-throughput identification and rational design of synergistic small-molecule pairs for combating and bypassing antibiotic resistance. PLoS Biol. 2017;15:e2001644 pubmed publisher
  30. Salama M, Swierczek S, Tashi T, Warby C, Reading N, Prchal J. Calreticulin mutated prefibrotic-stage myelofibrosis and PMF represent an independent clone from coexisting CLL. Blood. 2014;124:1691-2 pubmed publisher
  31. Cheng W, Roth J. Isolation of NAD cycle mutants defective in nicotinamide mononucleotide deamidase in Salmonella typhimurium. J Bacteriol. 1995;177:6711-7 pubmed
    ..We propose that pncD mutations reduce the activity of an ilv biosynthetic enzyme that is naturally sensitive to inhibition by NMN. ..
  32. Simin K, Bates E, Horner M, Letsou A. Genetic analysis of punt, a type II Dpp receptor that functions throughout the Drosophila melanogaster life cycle. Genetics. 1998;148:801-13 pubmed
    ..Taken together, these results suggest that the Punt protein functions as a dimer or higher order multimer throughout the Drosophila life cycle. ..
  33. Zou A, Xu Q, Sanguinetti M. A mutation in the pore region of HERG K+ channels expressed in Xenopus oocytes reduces rectification by shifting the voltage dependence of inactivation. J Physiol. 1998;509 ( Pt 1):129-37 pubmed
    ..0 pS between +40 and +100 mV (120 mM extracellular K+). This compares to a gamma of 12.1 and 5.1 pS for WT-HERG channels under the same conditions. ..
  34. Phillips C, Ullman B, Brennan R, Hill C. Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani. EMBO J. 1999;18:3533-45 pubmed
    ..The active site involves residues from both subunits of the dimer, indicating that dimerization is essential for catalysis. ..
  35. Barker D, Denison J, Atkin C, Gregory M. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. Am J Med Genet. 2001;98:148-60 pubmed
    ..One of the 29 different mutations detected initially seemed to be a missense change in exon 32 but was found to cause exon skipping. Another missense variant may mark a novel functional site located in the collagenous domain...
  36. Wright T, Mansour S. Fgf3 and Fgf10 are required for mouse otic placode induction. Development. 2003;130:3379-90 pubmed
    ..Finally, examination of embryos carrying three out of the four mutant Fgf alleles revealed intermediate phenotypes, suggesting a quantitative requirement for FGF signalling in otic vesicle formation. ..
  37. Ward R, Evans J, Thummel C. Genetic modifier screens in Drosophila demonstrate a role for Rho1 signaling in ecdysone-triggered imaginal disc morphogenesis. Genetics. 2003;165:1397-415 pubmed
  38. Biswas D, Imbalzano A, Eriksson P, Yu Y, Stillman D. Role for Nhp6, Gcn5, and the Swi/Snf complex in stimulating formation of the TATA-binding protein-TFIIA-DNA complex. Mol Cell Biol. 2004;24:8312-21 pubmed
    ..Consistent with the idea that Nhp6, Gcn5, and Swi/Snf have overlapping functions in vivo, nhp6a nhp6b gcn5 mutants had a severe growth defect, and mutations in both nhp6a nhp6b swi2 and gcn5 swi2 strains were lethal. ..
  39. Ronquillo C, Bernstein P, Baehr W. Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. 2012;75:88-97 pubmed publisher
    ..This review will survey the biochemistry, cell biology and existing animal models for each of the nephrocystins as it relates to photoreceptor biology and pathogenesis of retinal degeneration. ..
  40. Shestakova A, Curtiss M, Davies B, Katzmann D, Babst M. The linker region plays a regulatory role in assembly and activity of the Vps4 AAA ATPase. J Biol Chem. 2013;288:26810-9 pubmed publisher
    ..This structure would allow the Vps4 complex to engage ESCRT-III subunits with both the pore and the MIT domain simultaneously, which might be essential for the ATP-driven disassembly of ESCRT-III. ..
  41. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589-600 pubmed
    ..Analysis of DNA from parents of one of these patients showed that his 2 bp deletion is a new mutation; furthermore, the mutation was transmitted to two of his children. These data have established that DP2.5 is the APC gene. ..
  42. Bromberg M, Swoboda K, Lawson V. Counting motor units in chronic motor neuropathies. Exp Neurol. 2003;184 Suppl 1:S53-7 pubmed
    ..The pattern of proximal motor unit loss differed between CMT1A and 2, suggesting differences in underlying axonal pathology. ..
  43. Morton J, Davis M, Jorgensen E, Carroll D. Induction and repair of zinc-finger nuclease-targeted double-strand breaks in Caenorhabditis elegans somatic cells. Proc Natl Acad Sci U S A. 2006;103:16370-5 pubmed
    ..DNA ligase IV is required for efficient end joining, particularly of blunt ends. In its absence, a secondary end-joining pathway relies more heavily on microhomologies in producing deletions. ..
  44. Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, et al. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 1991;66:601-13 pubmed
    ..Two other cDNAs, DP2 and DP3, were found to overlap, forming a single gene, DP2.5, that is transcribed in the same orientation as SRP19. ..
  45. Rong Y, Golic K. Gene targeting by homologous recombination in Drosophila. Science. 2000;288:2013-8 pubmed
    ..A method is described that enables analogous manipulations of the Drosophila genome. This technique may also be applicable to other organisms for which gene-targeting procedures do not yet exist. ..
  46. McBride H, Sil A, Measday V, Yu Y, Moffat J, Maxon M, et al. The protein kinase Pho85 is required for asymmetric accumulation of the Ash1 protein in Saccharomyces cerevisiae. Mol Microbiol. 2001;42:345-53 pubmed
    ..We observe that Ash1 protein is phosphorylated by Pho85 in vitro and that Ash1 stability increases in a pho85 mutant. These data suggest that phosphorylation of Ash1 by Pho85 governs stability of Ash1 protein. ..
  47. Baker K, Beckstead R, Mangelsdorf D, Thummel C. Functional interactions between the Moses corepressor and DHR78 nuclear receptor regulate growth in Drosophila. Genes Dev. 2007;21:450-64 pubmed
    ..The tight functional association between DHR78 and Moses provides a new paradigm for understanding the molecular mechanisms by which cofactors modulate nuclear receptor signaling pathways. ..
  48. Dehart J, Bosque A, Harris R, Planelles V. Human immunodeficiency virus type 1 Vif induces cell cycle delay via recruitment of the same E3 ubiquitin ligase complex that targets APOBEC3 proteins for degradation. J Virol. 2008;82:9265-72 pubmed publisher
    ..We conclude that cell cycle delay by Vif is a result of ubiquitination and degradation of a cellular protein that is different from the known APOBEC3 family members. ..
  49. Kozlova T, Lam G, Thummel C. Drosophila DHR38 nuclear receptor is required for adult cuticle integrity at eclosion. Dev Dyn. 2009;238:701-7 pubmed publisher
    ..In contrast, cuticle gene expression is significantly reduced in DHR38(Y214) mutant pupae. These studies define the essential functions of DHR38 and provide a genetic context for further characterization of its roles during development. ..
  50. Hirano T, Mizuno S, Aizawa S, Hughes K. Mutations in flk, flgG, flhA, and flhE that affect the flagellar type III secretion specificity switch in Salmonella enterica. J Bacteriol. 2009;191:3938-49 pubmed publisher
    ..Unexpectedly, when deletions of either flgE or flgD were introduced into flgG* mutant strains, filaments were able to grow directly on the filamentous rod structures...
  51. Figueroa K, Minassian N, Stevanin G, Waters M, Garibyan V, Forlani S, et al. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat. 2010;31:191-6 pubmed publisher
    ..Despite a phenotype reminiscent of the p.Phe448Leu mutation, segregating in a large early-onset French pedigree, the p.Arg423His mutation resulted in a nonfunctional subunit with a strong dominant-negative effect. ..
  52. Kinney A, Gammon A, Coxworth J, Simonsen S, Arce Laretta M. Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies. Genet Med. 2010;12:105-15 pubmed publisher
    ..This research suggests that cancer genetic communication efforts should consider community and cultural perspectives as well as health care access issues before widespread implementation. ..
  53. Liu T, Willmore Payne C, Wallander M, Layfield L. Utilization of unlabeled probes for the detection of fibroblast growth factor receptor 2 exons 7 and 12 mutations in endometrial carcinoma. Appl Immunohistochem Mol Morphol. 2011;19:341-6 pubmed publisher
    ..Identification of these mutations may have important implications in directed molecular therapy. ..
  54. Reaz S, Mossalam M, Okal A, Lim C. A single mutant, A276S of p53, turns the switch to apoptosis. Mol Pharm. 2013;10:1350-9 pubmed publisher
    ..Higher induction apoptosis than wild-type p53 makes A276S an attractive candidate for therapy to eradicate cancer. ..
  55. Domeier M, Morse D, Knight S, Portereiko M, Bass B, Mango S. A link between RNA interference and nonsense-mediated decay in Caenorhabditis elegans. Science. 2000;289:1928-31 pubmed
    ..The levels of target messenger RNAs were restored during recovery, and RNA editing and degradation of the dsRNA were identical to those of the wild type. We suggest that persistence of RNA interference relies on a subset of smg genes. ..
  56. Wellik D, Hawkes P, Capecchi M. Hox11 paralogous genes are essential for metanephric kidney induction. Genes Dev. 2002;16:1423-32 pubmed
  57. Samowitz W, Sweeney C, Herrick J, Albertsen H, Levin T, Murtaugh M, et al. Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers. Cancer Res. 2005;65:6063-9 pubmed
  58. Cobine P, Pierrel F, Leary S, Sasarman F, Horng Y, Shoubridge E, et al. The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding. J Biol Chem. 2006;281:12270-6 pubmed
    ..They further suggest that defective Cox17-mediated copper metallation of Sco1, as well as the subsequent failure of Cu(A) site maturation, is the basis for the inefficient assembly of the cytochrome c oxidase complex in SCO1 patients. ..
  59. Aldridge P, Karlinsey J, Becker E, Chevance F, Hughes K. Flk prevents premature secretion of the anti-sigma factor FlgM into the periplasm. Mol Microbiol. 2006;60:630-43 pubmed publisher
    ..Our data suggest that Flk inhibits FlgM secretion by acting as a braking system for the flagellar-associated type III secretion system. A model is presented to explain a role for Flk in flagellar assembly and gene regulatory processes...
  60. Opitz J, Putnam A, Comstock J, Chin S, Byrne J, Kennedy A, et al. Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. Fetal Pediatr Pathol. 2006;25:211-31 pubmed
    ..g., mice) to further understanding of pathogenesis. ..
  61. Bastien R, Lewis T, Hawkes J, Quackenbush J, Robbins T, Palazzo J, et al. High-throughput amplicon scanning of the TP53 gene in breast cancer using high-resolution fluorescent melting curve analyses and automatic mutation calling. Hum Mutat. 2008;29:757-64 pubmed publisher
    ..The TP53 scanning assay can be performed from a variety of specimen types with high sensitivity/specificity and could be used for clinical and research purposes. ..
  62. Slattery M, Wolff E, Hoffman M, Pellatt D, Milash B, Wolff R. MicroRNAs and colon and rectal cancer: differential expression by tumor location and subtype. Genes Chromosomes Cancer. 2011;50:196-206 pubmed publisher
    ..These results suggest the importance of miRNAs in colorectal cancer and the need for studies that can confirm these results and provide insight into the diet, lifestyle, and genetic factors that influence miRNA expression. ..
  63. Jensen M, Hoerndli F, Brockie P, Wang R, Johnson E, Maxfield D, et al. Wnt signaling regulates acetylcholine receptor translocation and synaptic plasticity in the adult nervous system. Cell. 2012;149:173-87 pubmed publisher
    ..Using optogenetic nerve stimulation, we demonstrate activity-dependent synaptic plasticity and its dependence on ACR-16/?7 translocation mediated by Wnt signaling via LIN-17/CAM-1 heteromeric receptors. ..
  64. McClain D, Abuelgasim K, Nouraie M, Salomon Andonie J, Niu X, Miasnikova G, et al. Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism. J Mol Med (Berl). 2013;91:59-67 pubmed publisher
    ..Further study is needed to determine whether pharmacologically manipulating HIF expression might be beneficial for treatment of diabetic patients. ..
  65. Jin S, Homsy J, Zaidi S, Lu Q, Morton S, Depalma S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49:1593-1601 pubmed publisher
    ..DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found. ..
  66. Hazelrigg T, Petersen S. An unusual genomic position effect on Drosophila white gene expression: pairing dependence, interactions with zeste, and molecular analysis of revertants. Genetics. 1992;130:125-38 pubmed
  67. Ptacek L, Tawil R, Griggs R, Meola G, McManis P, Barohn R, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994;44:1500-3 pubmed
    ..Electrophysiologic characterization of specific mutations will lead to better understanding of the biophysics of this voltage-gated ion channel...
  68. Fisk G, Thummel C. The DHR78 nuclear receptor is required for ecdysteroid signaling during the onset of Drosophila metamorphosis. Cell. 1998;93:543-55 pubmed
    ..We propose that DHR78 is a ligand-activated receptor that plays a central role in directing the onset of Drosophila metamorphosis. ..
  69. Rossel M, Capecchi M. Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. Development. 1999;126:5027-40 pubmed
  70. D Avino P, Thummel C. The ecdysone regulatory pathway controls wing morphogenesis and integrin expression during Drosophila metamorphosis. Dev Biol. 2000;220:211-24 pubmed
    ..We also propose that ecdysone modulation of integrin expression might be widely used to control multiple aspects of adult development. ..
  71. Bonkowsky J, Johnson J, Carey J, Smith A, Swoboda K. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics. 2003;112:e237-41 pubmed
    ..Immunohistochemistry of skin biopsy specimens, together with routine nerve conduction studies, can provide quick and reliable confirmation if CIPA is clinically suspected...
  72. Karren M, Coonrod E, Anderson T, Shaw J. The role of Fis1p-Mdv1p interactions in mitochondrial fission complex assembly. J Cell Biol. 2005;171:291-301 pubmed
    ..These studies suggest that the concave binding surface of the Fis1p TPR-like fold interacts with Mdv1p during mitochondrial fission and that Mdv1p facilitates Dnm1p recruitment into functional fission complexes. ..
  73. Elliott C, Glissmeyer E, Havlena G, Carlquist J, McKinney J, Rich S, et al. Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. Circulation. 2006;113:2509-15 pubmed
    ..Patients with familial or idiopathic PAH and nonsynonymous BMPR2 variations are unlikely to demonstrate vasoreactivity. Further trials are required to determine whether long-term therapy can be directed by tests for BMPR2 variations. ..
  74. Nadauld L, Phelps R, Moore B, Eisinger A, Sandoval I, Chidester S, et al. Adenomatous polyposis coli control of C-terminal binding protein-1 stability regulates expression of intestinal retinol dehydrogenases. J Biol Chem. 2006;281:37828-35 pubmed
    ..The relationship between APC and CtBP1 is conserved between humans and zebrafish and provides a mechanistic model explaining APC control of intestinal retinoic acid biosynthesis. ..
  75. Brown S, Sonntag D, Sanguinetti M. A highly conserved alanine in the S6 domain of the hERG1 K+ channel is required for normal gating. Cell Physiol Biochem. 2008;22:601-10 pubmed publisher
    ..Thus, an Ala at position 653 in hERG1 is required for normal voltage dependence of channel gating and a charged residue in this position prevents channel closure. ..
  76. Toomey E, Schiffman J, Lessnick S. Recent advances in the molecular pathogenesis of Ewing's sarcoma. Oncogene. 2010;29:4504-16 pubmed publisher
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