Experts and Doctors on mutation in Boston, Massachusetts, United States


Locale: Boston, Massachusetts, United States
Topic: mutation

Top Publications

  1. Kretschmer M, Fraenkel D. Yeast 6-phosphofructo-2-kinase: sequence and mutant. Biochemistry. 1991;30:10663-72 pubmed
  2. Basson C, Macrae C, Schoenberg Fejzo M, Morton C, Spinner N, Genin A, et al. Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130. Genomics. 1996;35:628-31 pubmed
    ..Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. ..
  3. Wurgler Murphy S, Maeda T, Witten E, Saito H. Regulation of the Saccharomyces cerevisiae HOG1 mitogen-activated protein kinase by the PTP2 and PTP3 protein tyrosine phosphatases. Mol Cell Biol. 1997;17:1289-97 pubmed
    ..Thus, the kinase activity of Hog1p is required for its own tyrosine dephosphorylation. Northern blot analyses suggest that Hog1p regulates Ptp2p and/or Ptp3p activity at the posttranscriptional level. ..
  4. Pogliano J, Lynch A, Belin D, Lin E, Beckwith J. Regulation of Escherichia coli cell envelope proteins involved in protein folding and degradation by the Cpx two-component system. Genes Dev. 1997;11:1169-82 pubmed
    ..coli genes. These findings suggest a potentially extensive Cpx regulon including genes transcribed by sigma70 and sigma(E), which encode factors involved in protein folding as well as other cellular functions. ..
  5. Newman D, Kolter R. A role for excreted quinones in extracellular electron transfer. Nature. 2000;405:94-7 pubmed
    ..This finding raises the possibility that electron transfer to a variety of oxidants, including poorly soluble minerals, may be mediated by microbially excreted quinones that have yet to be identified...
  6. Herrero A, Uccelletti D, Hirschberg C, Dominguez A, Abeijon C. The Golgi GDPase of the fungal pathogen Candida albicans affects morphogenesis, glycosylation, and cell wall properties. Eukaryot Cell. 2002;1:420-31 pubmed
    ..Taken together, our data are in agreement with the hypothesis that several pathways regulate the yeast-hypha transition. Gda1/gda1 cells offer a model for discriminating among them. ..
  7. Roux P, Richards S, Blenis J. Phosphorylation of p90 ribosomal S6 kinase (RSK) regulates extracellular signal-regulated kinase docking and RSK activity. Mol Cell Biol. 2003;23:4796-804 pubmed
    ..These results provide new evidence for the regulated nature of ERK docking interactions and reveal important differences among the closely related RSK family members. ..
  8. Hess D, Winston F. Evidence that Spt10 and Spt21 of Saccharomyces cerevisiae play distinct roles in vivo and functionally interact with MCB-binding factor, SCB-binding factor and Snf1. Genetics. 2005;170:87-94 pubmed
    ..Taken together, these genetic interactions suggest distinct roles for Spt21 and Spt10 in vivo that are sensitive to multiple perturbations in transcription networks. ..
  9. Tan W, Eichler F, Hoda S, Lee M, Baris H, Hanley C, et al. Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005;116:757-66 pubmed
    ..The main alternative in the differential diagnosis of isolated sulfite oxidase deficiency is molybdenum cofactor deficiency. ..

More Information

Publications470 found, 100 shown here

  1. Dickman D, Horne J, Meinertzhagen I, Schwarz T. A slowed classical pathway rather than kiss-and-run mediates endocytosis at synapses lacking synaptojanin and endophilin. Cell. 2005;123:521-33 pubmed
    ..Therefore, no genetic evidence remains to indicate that synaptic vesicles undergo kiss-and-run. ..
  2. Castigli E, Geha R. Molecular basis of common variable immunodeficiency. J Allergy Clin Immunol. 2006;117:740-6; quiz 747 pubmed
    ..These results suggest that TACI mutations can lead to CVID and IgAD. ..
  3. George R, Sanda T, Hanna M, Fröhling S, Luther W, Zhang J, et al. Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature. 2008;455:975-8 pubmed publisher
  4. Luderer H, Gori F, Demay M. Lymphoid enhancer-binding factor-1 (LEF1) interacts with the DNA-binding domain of the vitamin D receptor. J Biol Chem. 2011;286:18444-51 pubmed publisher
    ..Thus, this study demonstrates a novel interaction between the VDR and LEF1 that is mediated by the DNA-binding domain of the VDR and that is required for normal canonical Wnt signaling in keratinocytes. ..
  5. Li X, Yeung D, Fiegen A, Sodroski J. Determinants of the higher order association of the restriction factor TRIM5alpha and other tripartite motif (TRIM) proteins. J Biol Chem. 2011;286:27959-70 pubmed publisher
    ..These results support a model in which both ends of the core TRIM dimer (RING-B-box 2 at one end and Linker 2 at the other) contribute to the formation of higher order arrays. ..
  6. Zou W, Greenblatt M, Shim J, Kant S, Zhai B, Lotinun S, et al. MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice. J Clin Invest. 2011;121:4383-92 pubmed publisher
    ..Thus, our results provide a putative biochemical mechanism for the skeletal defects in human FGDY and suggest that modulating MAPK signaling may benefit these patients. ..
  7. Shen L, Kim S, Chen C. Sensitization of human pancreatic cancer cells harboring mutated K-ras to apoptosis. PLoS ONE. 2012;7:e40435 pubmed publisher
    ..However, the suppression or loss of PKC disrupts the balance and initiates an apoptotic crisis, in which ROS and p73 appear the potential, key targets. ..
  8. Vivante A, Mann N, Yonath H, Weiss A, Getwan M, Kaminski M, et al. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol. 2017;28:2364-2376 pubmed publisher
  9. Finley D, Bartel B, Varshavsky A. The tails of ubiquitin precursors are ribosomal proteins whose fusion to ubiquitin facilitates ribosome biogenesis. Nature. 1989;338:394-401 pubmed
    ..These results suggest a novel 'chaperone' function for ubiquitin, in which its covalent association with other proteins promotes the formation of specific cellular structures. ..
  10. Iliopoulos O, Kibel A, Gray S, Kaelin W. Tumour suppression by the human von Hippel-Lindau gene product. Nat Med. 1995;1:822-6 pubmed
    ..Reintroduction of wild-type, but not mutant, VHL into these cells had no demonstrable effect on their growth in vitro but inhibited their ability to form tumours in nude mice. ..
  11. Fruman D, Pai S, Burakoff S, Bierer B. Characterization of a mutant calcineurin A alpha gene expressed by EL4 lymphoma cells. Mol Cell Biol. 1995;15:3857-63 pubmed
    ..These findings implicate a conserved aspartic acid in the mechanism of calcineurin autoinhibition and suggest that mutation of this residue is associated with aberrant calcium-dependent signaling in vivo. ..
  12. Bennett A, Hausdorff S, O Reilly A, Freeman R, Neel B. Multiple requirements for SHPTP2 in epidermal growth factor-mediated cell cycle progression. Mol Cell Biol. 1996;16:1189-202 pubmed
    ..Therefore, SHPTP2 is absolutely required for immediate-early and late events induced by some, but not all, growth factors, and the immediate-early and late signal transduction pathways regulated by SHPTP2 are distinguishable. ..
  13. Harrison S, Roffler Tarlov S. Cell death during development of testis and cerebellum in the mutant mouse weaver. Dev Biol. 1998;195:174-86 pubmed
  14. Foster P, Rosche W. Increased episomal replication accounts for the high rate of adaptive mutation in recD mutants of Escherichia coli. Genetics. 1999;152:15-30 pubmed
  15. Poy F, Yaffe M, Sayos J, Saxena K, Morra M, Sumegi J, et al. Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. Mol Cell. 1999;4:555-61 pubmed
    ..Further, we show that SAP and the similar protein EAT-2 recognize the sequence motif TIpYXX(V/I). ..
  16. Artandi S, Chang S, Lee S, Alson S, Gottlieb G, Chin L, et al. Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature. 2000;406:641-5 pubmed
    ..Our data suggest a model in which telomere dysfunction brought about by continual epithelial renewal during life generates the massive ploidy changes associated with the development of epithelial cancers. ..
  17. Ashrafi K, Chang F, Watts J, Fraser A, Kamath R, Ahringer J, et al. Genome-wide RNAi analysis of Caenorhabditis elegans fat regulatory genes. Nature. 2003;421:268-72 pubmed
  18. Zhou P, Fernandes N, Dodge I, Reddi A, Rao N, Safran H, et al. ErbB2 degradation mediated by the co-chaperone protein CHIP. J Biol Chem. 2003;278:13829-37 pubmed
  19. Paw B, Davidson A, Zhou Y, Li R, Pratt S, Lee C, et al. Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Nat Genet. 2003;34:59-64 pubmed
    ..1R-binding domains. Our report establishes an evolutionarily conserved role for band 3 in erythroid-specific cell division and illustrates the concept of cell-specific adaptation for mitosis. ..
  20. Riley K, Maldonado A, Tellier P, D SOUZA SCHOREY C, Herman I. Betacap73-ARF6 interactions modulate cell shape and motility after injury in vitro. Mol Biol Cell. 2003;14:4155-61 pubmed
    ..Knowledge of the role that ARF6 plays in orchestrating membrane and beta-actin dynamics will help to reveal molecular mechanisms regulating actin-based motility during development and disease. ..
  21. Marneros A, Olsen B. Physiological role of collagen XVIII and endostatin. FASEB J. 2005;19:716-28 pubmed
    ..These recent findings demonstrate an important role for collagen XVIII/endostatin in cell-matrix interactions in certain tissues that may be compensated for in other tissues expressing this collagen...
  22. McEwen J, Madison J, Dybbs M, Kaplan J. Antagonistic regulation of synaptic vesicle priming by Tomosyn and UNC-13. Neuron. 2006;51:303-15 pubmed
    ..Even when priming was restored, synaptic transmission remained defective in unc-13 mutants, suggesting that UNC-13 is also required for other aspects of secretion. ..
  23. Avila J, Jezewski P, Vieira A, Orioli I, Castilla E, Christensen K, et al. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A. 2006;140:2562-70 pubmed
    ..Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face. ..
  24. Sablina A, Chen W, Arroyo J, Corral L, Hector M, Bulmer S, et al. The tumor suppressor PP2A Abeta regulates the RalA GTPase. Cell. 2007;129:969-82 pubmed
    ..These observations identify PP2A Abeta as a tumor suppressor gene that transforms immortalized human cells by regulating the function of RalA. ..
  25. Henderson J, Alexander M, Pollak M. Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury. J Am Soc Nephrol. 2009;20:961-8 pubmed publisher
    ..These characteristics resemble features observed in mouse models of this disease and may aid in the identification of patients and families who harbor ACTN4 mutations. ..
  26. Bergmann A, Campagna D, McLoughlin E, Agarwal S, Fleming M, Bottomley S, et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010;54:273-8 pubmed publisher
    ..Despite these known diverse causes, in a substantial portion of CSA cases a presumed genetic defect remains unknown...
  27. Ogino S, Shima K, Meyerhardt J, McCleary N, Ng K, Hollis D, et al. Predictive and prognostic roles of BRAF mutation in stage III colon cancer: results from intergroup trial CALGB 89803. Clin Cancer Res. 2012;18:890-900 pubmed publisher
    ..We examined the effect of BRAF mutation on survival and treatment efficacy in patients with stage III colon cancer...
  28. Mackay D, Borman A, Sui R, van den Born L, Berson E, Ocaka L, et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013;34:1537-1546 pubmed publisher
    ..Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials. ..
  29. Kelley Clarke B, De Leon Vazquez E, Slain K, Barbera A, Kaye K. Role of Kaposi's sarcoma-associated herpesvirus C-terminal LANA chromosome binding in episome persistence. J Virol. 2009;83:4326-37 pubmed publisher
    ..These data suggest a model in which N- and C-terminal LANA cooperatively associates with chromosomes to mediate full-length LANA chromosome binding and viral persistence. ..
  30. Thelen P, Tsuchiya T, Goldberg E. Characterization and mapping of a major Na+/H+ antiporter gene of Escherichia coli. J Bacteriol. 1991;173:6553-7 pubmed
    ..5 min. Since a cell with a mutation in nhaB alone is essentially Na+/H+ antiporter negative up to pH 8.0, we conclude that nhaB is required for the major Na+/H+ antiporter activity in the usual physiological pH range. ..
  31. Jacobson J, Leib D, Goldstein D, Bogard C, Schaffer P, Weller S, et al. A herpes simplex virus ribonucleotide reductase deletion mutant is defective for productive acute and reactivatable latent infections of mice and for replication in mouse cells. Virology. 1989;173:276-83 pubmed
  32. Lee F, Vallee B. Binding of placental ribonuclease inhibitor to the active site of angiogenin. Biochemistry. 1989;28:3556-61 pubmed
    ..These results indicate that PRI inhibition minimally involves the three residues critical for the activity of angiogenin--Lys-40, His-13, and His-114--and to a lesser extent its single tryptophan, Trp-89. ..
  33. Musacchio M, Perrimon N. The Drosophila kekkon genes: novel members of both the leucine-rich repeat and immunoglobulin superfamilies expressed in the CNS. Dev Biol. 1996;178:63-76 pubmed
    ..Genetic analysis reveals that deletion of the kek1 gene causes no obvious developmental defects. The coexpression of kek2 in the CNS leads us to suggest that Kek1 is part of a family of cell surface proteins with redundant function. ..
  34. Talis A, Huibregtse J, Howley P. The role of E6AP in the regulation of p53 protein levels in human papillomavirus (HPV)-positive and HPV-negative cells. J Biol Chem. 1998;273:6439-45 pubmed
    ..These studies provide evidence for the involvement of E6AP in E6-mediated p53 degradation in vivo and also indicate that E6AP may not be involved in the regulation of p53 ubiquitination in the absence of E6. ..
  35. O Toole G, Pratt L, Watnick P, Newman D, Weaver V, Kolter R. Genetic approaches to study of biofilms. Methods Enzymol. 1999;310:91-109 pubmed
  36. Kasahara H, Lee B, Schott J, Benson D, Seidman J, Seidman C, et al. Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest. 2000;106:299-308 pubmed
    ..5. Although our studies do not characterize the genotype-phenotype relationship of the ten human mutations, they identify specific abnormalities of CSX/NKX2.5 function essential for transactivation of target genes. ..
  37. Bektas A, Hughes J, Warram J, Krolewski A, Doria A. Type 2 diabetes locus on 12q15. Further mapping and mutation screening of two candidate genes. Diabetes. 2001;50:204-8 pubmed
    ..This locus, however, does not appear to correspond to the PTPRR or CPM, although a contribution of mutations in regulatory regions cannot be excluded at this time. ..
  38. Natoli T, Liu J, Eremina V, Hodgens K, Li C, Hamano Y, et al. A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development. J Am Soc Nephrol. 2002;13:2058-67 pubmed
    ..These results suggest that WT1 controls the expression of growth factors that regulate glomerular capillary development and that abnormal capillary development might lead to glomerular disease...
  39. Cao C, Leng Y, Huang W, Liu X, Kufe D. Glutathione peroxidase 1 is regulated by the c-Abl and Arg tyrosine kinases. J Biol Chem. 2003;278:39609-14 pubmed
    ..Our findings provide the first evidence that GPx1 is regulated by a signaling pathway that is activated in the oxidative stress response. ..
  40. George D. Targeting PDGF receptors in cancer--rationales and proof of concept clinical trials. Adv Exp Med Biol. 2003;532:141-51 pubmed
  41. Periquet M, Fulga T, Myllykangas L, Schlossmacher M, Feany M. Aggregated alpha-synuclein mediates dopaminergic neurotoxicity in vivo. J Neurosci. 2007;27:3338-46 pubmed
  42. Brumme Z, Brumme C, Carlson J, Streeck H, John M, Eichbaum Q, et al. Marked epitope- and allele-specific differences in rates of mutation in human immunodeficiency type 1 (HIV-1) Gag, Pol, and Nef cytotoxic T-lymphocyte epitopes in acute/early HIV-1 infection. J Virol. 2008;82:9216-27 pubmed publisher
    ..Dramatic differences in escape and reversion rates across codons, genes, and HLA restrictions are observed, highlighting the complexity of viral adaptation to the host immune response. ..
  43. Choueiri T, Vaziri S, Jaeger E, Elson P, Wood L, Bhalla I, et al. von Hippel-Lindau gene status and response to vascular endothelial growth factor targeted therapy for metastatic clear cell renal cell carcinoma. J Urol. 2008;180:860-5; discussion 865-6 pubmed publisher
    ..Loss of function mutations identified a population of patients with a greater response. Investigation of downstream markers is under way. ..
  44. Liu X, Broberg E, Watanabe D, Dudek T, Deluca N, Knipe D. Genetic engineering of a modified herpes simplex virus 1 vaccine vector. Vaccine. 2009;27:2760-7 pubmed publisher
    ..The d106S HIVenvC recombinant has retained the sensitivity to acyclovir, indicating that this phenotype is a stable property of the d106S vector. ..
  45. Peng Y, Sun J, Hon S, Nylander A, Xia W, Feng Y, et al. L-3-n-butylphthalide improves cognitive impairment and reduces amyloid-beta in a transgenic model of Alzheimer's disease. J Neurosci. 2010;30:8180-9 pubmed publisher
    ..L-NBP shows promising preclinical potential as a multitarget drug for the prevention and/or treatment of Alzheimer's disease. ..
  46. Calvo S, Tucker E, Compton A, Kirby D, Crawford G, Burtt N, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010;42:851-8 pubmed publisher
    ..Our study illustrates how large-scale sequencing, coupled with functional prediction and experimental validation, can be used to identify causal mutations in individual cases. ..
  47. Guo C, Sun Y, Zhou B, Adam R, Li X, Pu W, et al. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest. 2011;121:1585-95 pubmed publisher
    ..Together, these findings reveal a Tbx1-Six1/Eya1-Fgf8 genetic pathway that is crucial for mammalian cardiocraniofacial morphogenesis and provide insights into the pathogenesis of human del22q11 syndromes. ..
  48. Stottmann R, Moran J, Turbe Doan A, Driver E, Kelley M, Beier D. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics. 2011;188:615-24 pubmed publisher
    ..We find that refining ENU mutagenesis in these ways is an efficient experimental approach and that investigation of the developing mammalian nervous system using forward genetic experiments is highly productive. ..
  49. Rice W, Zhang Y, Chen Y, Matsuzaki T, Brown D, Lu H. Differential, phosphorylation dependent trafficking of AQP2 in LLC-PK1 cells. PLoS ONE. 2012;7:e32843 pubmed publisher
    ..Overall, our data provide evidence supporting the role of S256 and S269 in the maintenance of AQP2 at the cell surface and reveal the dynamics of internalization and recycling of differentially phosphorylated AQP2 in cell culture. ..
  50. Brastianos P, Horowitz P, Santagata S, Jones R, McKenna A, Getz G, et al. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nat Genet. 2013;45:285-9 pubmed publisher
    ..These mutations were present in therapeutically challenging tumors of the skull base and higher grade. These results begin to define the spectrum of genetic alterations in meningiomas and identify potential therapeutic targets...
  51. Vakifahmetoglu Norberg H, Kim M, Xia H, Iwanicki M, Ofengeim D, Coloff J, et al. Chaperone-mediated autophagy degrades mutant p53. Genes Dev. 2013;27:1718-30 pubmed publisher
  52. Carlson J, Badran A, Guggiana Nilo D, Liu D. Negative selection and stringency modulation in phage-assisted continuous evolution. Nat Chem Biol. 2014;10:216-22 pubmed publisher
    ..The evolved enzymes exhibit specificity for their target substrate that exceeds that of wild-type RNA polymerases for their cognate substrates while maintaining wild type-like levels of activity. ..
  53. Tricarico R, Cortellino S, Riccio A, Jagmohan Changur S, van der Klift H, Wijnen J, et al. Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. Oncotarget. 2015;6:42892-904 pubmed publisher
    ..Mbd4-deficient mice showed reduced survival when combined with Mlh1-/- genotype. Taken together, these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of MMR-deficient cancer phenotype. ..
  54. Choi W, de Poot S, Lee J, Kim J, Han D, Kim Y, et al. Open-gate mutants of the mammalian proteasome show enhanced ubiquitin-conjugate degradation. Nat Commun. 2016;7:10963 pubmed publisher
  55. Metsky H, Matranga C, Wohl S, Schaffner S, Freije C, Winnicki S, et al. Zika virus evolution and spread in the Americas. Nature. 2017;546:411-415 pubmed publisher
    ..We identify mutations with possible functional implications for ZIKV biology and pathogenesis, as well as those that might be relevant to the effectiveness of diagnostic tests. ..
  56. Moller D, Yokota A, Ginsberg Fellner F, Flier J. Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. Mol Endocrinol. 1990;4:1183-91 pubmed
    ..In contrast, insulin-stimulated autophosphorylation of the mutant receptors was severely impaired, whether assessed in intact cells or with a partially purified receptor preparation.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  57. Moller D, Yokota A, White M, Pazianos A, Flier J. A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. J Biol Chem. 1990;265:14979-85 pubmed
    ..This study also demonstrates that severe insulin resistance with dominant inheritance may be caused by a missense mutation in one allele of the insulin receptor gene. ..
  58. Iuchi S, Cole S, Lin E. Multiple regulatory elements for the glpA operon encoding anaerobic glycerol-3-phosphate dehydrogenase and the glpD operon encoding aerobic glycerol-3-phosphate dehydrogenase in Escherichia coli: further characterization of respiratory control. J Bacteriol. 1990;172:179-84 pubmed
    ..The arc system is known to mediate pleiotropic control of genes of aerobic function. ..
  59. Chin D, Goff S, Webster T, Smith T, Goldberg A. Sequence of the lon gene in Escherichia coli. A heat-shock gene which encodes the ATP-dependent protease La. J Biol Chem. 1988;263:11718-28 pubmed
    ..Mutations upstream of -35 had little effect, but alterations immediately upstream of -10 lowered basal transcription of a lon-lacZ operon fusion and reduced its response to inducers of the heat-shock response. ..
  60. Li W, Melnick M, Perrimon N. Dual function of Ras in Raf activation. Development. 1998;125:4999-5008 pubmed
    ..In addition, Ras1 is essential for the activation of an additional factor which in turn activates Draf. ..
  61. Morrill J, Brown R, Cannon S. Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H. J Neurosci. 1998;18:10320-34 pubmed
    ..The R528H mutation had no effect on the kinetics or voltage dependence of inactivation...
  62. Milunsky J, Maher T, Michels V, Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet. 2001;100:311-4 pubmed
    ..Molecular analysis is now available and recommended for presymptomatic diagnosis in those at-risk individuals and for confirmatory diagnosis in those having PGL. ..
  63. Kadin M, Levi E, Kempf W. Progression of lymphomatoid papulosis to systemic lymphoma is associated with escape from growth inhibition by transforming growth factor-beta and CD30 ligand. Ann N Y Acad Sci. 2001;941:59-68 pubmed
    ..The results suggest that progression of LyP to lymphoma is associated with escape of lymphoma cells from growth regulation by TGF-beta and CD30 ligand...
  64. Shimaoka M, Xiao T, Liu J, Yang Y, Dong Y, Jun C, et al. Structures of the alpha L I domain and its complex with ICAM-1 reveal a shape-shifting pathway for integrin regulation. Cell. 2003;112:99-111 pubmed
    ..Pulling down on the C-terminal alpha 7 helix with introduced disulfide bonds ratchets the beta 6-alpha 7 loop into three different positions in the closed, intermediate, and open conformations, with a progressive increase in affinity. ..
  65. Rezende L, Willcox S, Griffith J, Richardson C. A single-stranded DNA-binding protein of bacteriophage T7 defective in DNA annealing. J Biol Chem. 2003;278:29098-105 pubmed
    ..Gene 2.5 protein-R82C condenses single-stranded M13 DNA in a manner similar to wild-type protein when viewed by electron microscopy. ..
  66. Skorija K, Cox M, Sisk J, Dowd D, MacDonald P, Thompson C, et al. Ligand-independent actions of the vitamin D receptor maintain hair follicle homeostasis. Mol Endocrinol. 2005;19:855-62 pubmed
    ..These studies demonstrate that the effects of the VDR on the hair follicle are ligand independent and point to novel molecular and cellular actions of this nuclear receptor. ..
  67. Wang Y, Chen W, Simpson D, Elion E. Cdc24 regulates nuclear shuttling and recruitment of the Ste5 scaffold to a heterotrimeric G protein in Saccharomyces cerevisiae. J Biol Chem. 2005;280:13084-96 pubmed
    ..Collectively, these findings suggest that Cdc24 mediates site-specific localization of Ste5 to a heterotrimeric G protein and may therefore ensure localized activation of the associated MAPK cascade. ..
  68. Pitteloud N, Meysing A, Quinton R, Acierno J, Dwyer A, Plummer L, et al. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol. 2006;254-255:60-9 pubmed
  69. Zhang J, Adrian F, Jahnke W, Cowan Jacob S, Li A, Iacob R, et al. Targeting Bcr-Abl by combining allosteric with ATP-binding-site inhibitors. Nature. 2010;463:501-6 pubmed publisher
  70. Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet. 2010;11:685-96 pubmed publisher
    ..This Review focuses on the methodological considerations for characterizing somatic genome alterations in cancer and the future prospects for these approaches. ..
  71. Toyoda T, An D, Witczak C, Koh H, Hirshman M, Fujii N, et al. Myo1c regulates glucose uptake in mouse skeletal muscle. J Biol Chem. 2011;286:4133-40 pubmed publisher
    ..Myo1c is a novel mediator of both insulin-stimulated and contraction-stimulated glucose uptake in skeletal muscle. ..
  72. Lakdawala N, Thune J, Maron B, Cirino A, Havndrup O, Bundgaard H, et al. Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy. Am J Cardiol. 2011;108:1606-13 pubmed publisher
    ..However, owing to the limited sensitivity of ECG and echocardiographic screening, genetic testing is required to definitively identify at-risk family members...
  73. Moskowitz S, Brannon M, Dasgupta N, Pier M, Sgambati N, Miller A, et al. PmrB mutations promote polymyxin resistance of Pseudomonas aeruginosa isolated from colistin-treated cystic fibrosis patients. Antimicrob Agents Chemother. 2012;56:1019-30 pubmed publisher
    ..These results indicate that pmrB gain-of-function mutations can contribute to high-level polymyxin resistance in clinical strains of P. aeruginosa. ..
  74. Teekakirikul P, Padera R, Seidman J, Seidman C. Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics. J Cell Biol. 2012;199:417-21 pubmed publisher
    ..Studies in these models have provided unexpected insights into the biophysical and biochemical properties of mutated contractile proteins and may help to improve clinical diagnosis and management of patients with HCM. ..
  75. Liu L, De S, Michor F. DNA replication timing and higher-order nuclear organization determine single-nucleotide substitution patterns in cancer genomes. Nat Commun. 2013;4:1502 pubmed publisher
    ..These data suggest that DNA replication timing together with higher-order genomic organization contribute to the patterns of single-nucleotide substitution in normal and cancer genomes. ..
  76. Scott D, Rhee D, Duda D, Kelsall I, Olszewski J, Paulo J, et al. Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation. Cell. 2016;166:1198-1214.e24 pubmed publisher
    ..These studies have broad implications for CRL-dependent proteostasis and mechanisms of E3-mediated UB ligation. ..
  77. Olivares A, Han Y, Soto D, Flattery K, Marini J, Mollema N, et al. The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning. Dev Biol. 2017;429:343-355 pubmed publisher
    ..This study supports a role for Nr2c1 in defining the biphasic period of retinal development and specifically influencing the early phase of retinal cell fate. ..
  78. Peterman C, Fevurly R, Alomari A, Trenor C, Adams D, Vadeboncoeur S, et al. Sonographic screening for Wilms tumor in children with CLOVES syndrome. Pediatr Blood Cancer. 2017;64: pubmed publisher
    ..Given the benefits of early detection and treatment, children with CLOVES syndrome should be considered for quarterly abdominal ultrasonography until age 7 years. Screening may be most beneficial for patients under 3 years of age. ..
  79. Weisberg E, Schauer N, Yang J, Lamberto I, Doherty L, Bhatt S, et al. Inhibition of USP10 induces degradation of oncogenic FLT3. Nat Chem Biol. 2017;13:1207-1215 pubmed publisher
    ..Targeting of USP10 showed efficacy in preclinical models of mutant-FLT3 AML, including cell lines, primary patient specimens and mouse models of oncogenic-FLT3-driven leukemia...
  80. Akten B, Tangredi M, Jauch E, Roberts M, Ng F, Raabe T, et al. Ribosomal s6 kinase cooperates with casein kinase 2 to modulate the Drosophila circadian molecular oscillator. J Neurosci. 2009;29:466-75 pubmed publisher
    ..We propose that the two kinases cooperate within clock neurons to fine-tune circadian period, improving the precision of the clock mechanism. ..
  81. Eisenmann D, Arndt K, Ricupero S, Rooney J, Winston F. SPT3 interacts with TFIID to allow normal transcription in Saccharomyces cerevisiae. Genes Dev. 1992;6:1319-31 pubmed
    ..Taken together, these results suggest that SPT3 is a TFIID-associated protein, required for TFIID to function at particular promoters in vivo. ..
  82. Zeller R, Jackson Grusby L, Leder P. The limb deformity gene is required for apical ectodermal ridge differentiation and anteroposterior limb pattern formation. Genes Dev. 1989;3:1481-92 pubmed
    ..These data lead us to conclude that ld gene products are required for both proper AER differentiation and anteroposterior pattern formation in limb mesenchyme. ..
  83. Watkins H, Conner D, Thierfelder L, Jarcho J, MacRae C, McKenna W, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:434-7 pubmed
    ..These findings define cardiac MyBP-C mutations as the cause of FHC on chromosome 11p and reaffirm that FHC is a disease of the sarcomere. ..
  84. Toyoda N, Harney J, Berry M, Larsen P. Identification of critical amino acids for 3,5,3'-triiodothyronine deiodination by human type 1 deiodinase based on comparative functional-structural analyses of the human, dog, and rat enzymes. J Biol Chem. 1994;269:20329-34 pubmed
    ..A Phe65 to Leu mutation alone in the human enzyme increases the Km (rT3) 10-fold. We speculate that Phe65 is especially important for rT3 binding due to an interaction between the tyrosyl ring of rT3 and the aromatic ring of Phe65. ..
  85. Gross A, Pilcher K, Blachly Dyson E, Basso E, Jockel J, Bassik M, et al. Biochemical and genetic analysis of the mitochondrial response of yeast to BAX and BCL-X(L). Mol Cell Biol. 2000;20:3125-36 pubmed
    ..Thus, BAX induces two cellular processes in yeast which can each be abrogated by BCL-X(L): cell arrest, which does not require aspects of mitochondrial biochemistry, and cell killing, which does. ..
  86. Irwin M, Marin M, Phillips A, Seelan R, Smith D, Liu W, et al. Role for the p53 homologue p73 in E2F-1-induced apoptosis. Nature. 2000;407:645-8 pubmed
    ..Disruption of p73 function inhibited E2F-1-induced apoptosis in p53-defective tumour cells and in p53-/- mouse embryo fibroblasts. We conclude that activation of p73 provides a means for E2F-1 to induce death in the absence of p53. ..
  87. Martinez Quiles N, Rohatgi R, Anton I, Medina M, Saville S, Miki H, et al. WIP regulates N-WASP-mediated actin polymerization and filopodium formation. Nat Cell Biol. 2001;3:484-91 pubmed
    ..Our results indicate that WIP and N-WASP may act as a functional unit in filopodium formation, which is consistent with their role in actin-tail formation in cells infected with vaccinia virus or Shigella. ..
  88. Blake G, Schmitz C, Lindpaintner K, Ridker P. Mutation in the promoter region of the beta-fibrinogen gene and the risk of future myocardial infarction, stroke and venous thrombosis. Eur Heart J. 2001;22:2262-6 pubmed
    ..In a large prospective cohort, carriage of the T allele for the C148T mutation in the beta-fibrinogen promoter gene was not associated with an increased subsequent risk of cardiovascular events. ..
  89. Davidson A, Ernst P, Wang Y, Dekens M, Kingsley P, Palis J, et al. cdx4 mutants fail to specify blood progenitors and can be rescued by multiple hox genes. Nature. 2003;425:300-6 pubmed
    ..Taken together, these findings demonstrate that cdx4 regulates hox genes and is necessary for the specification of haematopoietic cell fate during vertebrate embryogenesis. ..
  90. Yamada K, Andrews C, Chan W, McKeown C, Magli A, de Berardinis T, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35:318-21 pubmed
    ..We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis. ..
  91. Wood J, Rogina B, Lavu S, Howitz K, Helfand S, Tatar M, et al. Sirtuin activators mimic caloric restriction and delay ageing in metazoans. Nature. 2004;430:686-9 pubmed
    ..Lifespan extension is dependent on functional Sir2, and is not observed when nutrients are restricted. Together these data indicate that STACs slow metazoan ageing by mechanisms that may be related to caloric restriction. ..
  92. Bricker A, Carey V, Wessels M. Role of NADase in virulence in experimental invasive group A streptococcal infection. Infect Immun. 2005;73:6562-6 pubmed
    ..We conclude that NADase and SLO together enhance GAS virulence in vivo. ..