Genomes and Genes
Experts and Doctors on proteins in Bethesda, Maryland, United States
Locale: Bethesda, Maryland, United States
Publications236 found, 100 shown here
- Sidorova N, Hung S, Rau D. Stabilizing labile DNA-protein complexes in polyacrylamide gels. Electrophoresis. 2010;31:648-53 pubmed publisher..Extension of this approach to other techniques used for separating bound and free components such as gel chromatography and CE is straightforward. ..
- Bao J, Sack M. Protein deacetylation by sirtuins: delineating a post-translational regulatory program responsive to nutrient and redox stressors. Cell Mol Life Sci. 2010;67:3073-87 pubmed publisher..We review the sirtuin family proteins, discuss their functional effects on target proteins, and postulate on potential biological programs and disease processes that may be modified by sirtuin-mediated deacetylation of target proteins. ..
- MariÃ±o RamÃrez L, Levine K, Morales M, Zhang S, Moreland R, Baxevanis A, et al. The Histone Database: an integrated resource for histones and histone fold-containing proteins. Database (Oxford). 2011;2011:bar048 pubmed publisher..The Histone Sequence Database is an inclusive resource for the analysis of chromatin structure and function focused on histones and histone fold-containing proteins. ..
- Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016;98:500-513 pubmed publisher..This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. ..
- Ray M, Wistow G, Su Y, Meltzer P, Trent J. AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma. Proc Natl Acad Sci U S A. 1997;94:3229-34 pubmed..AIM1 is a good candidate for the putative suppressor of malignant melanoma on chromosome 6, possibly exerting its effects through interactions with the cytoskeleton. ..
- Loftus S, Erickson R, Walkley S, Bryant M, Incao A, Heidenreich R, et al. Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum Mol Genet. 2002;11:3107-14 pubmed
- Baccarelli A, Calista D, Minghetti P, Marinelli B, Albetti B, Tseng T, et al. XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk. Br J Cancer. 2004;90:497-502 pubmed..DNA repair capacity was slightly decreased in subjects carrying 751Gln alleles. XPD variants may modify melanoma risk in subjects with specific host characteristics, such as older age, lack of dysplastic naevi or low tanning ability. ..
- Darling T. Hamartomas and tubers from defects in hamartin-tuberin. J Am Acad Dermatol. 2004;51:S9-11 pubmed
- Goila Gaur R, Khan M, Miyagi E, Kao S, Strebel K. Targeting APOBEC3A to the viral nucleoprotein complex confers antiviral activity. Retrovirology. 2007;4:61 pubmed..Our results suggest that the A3G N-terminal domain carries determinants important for targeting the protein to viral NPCs. Transfer of this domain to A3A results in A3A targeting to viral NPCs and confers antiviral activity. ..
- Moos M, Nguyen N, Liu T. Reproducible high yield sequencing of proteins electrophoretically separated and transferred to an inert support. J Biol Chem. 1988;263:6005-8 pubmed
- Park J, Levine M. Purification, cloning and expression of dehydroascorbic acid-reducing activity from human neutrophils: identification as glutaredoxin. Biochem J. 1996;315 ( Pt 3):931-8 pubmed
- Sakai C, Ollmann M, Kobayashi T, Abdel Malek Z, Muller J, Vieira W, et al. Modulation of murine melanocyte function in vitro by agouti signal protein. EMBO J. 1997;16:3544-52 pubmed
- Romanienko P, Camerini Otero R. The mouse Spo11 gene is required for meiotic chromosome synapsis. Mol Cell. 2000;6:975-87 pubmed..We speculate that there is an additional role for Spo11, after it generates DSBs, in synapsis. ..
- Lee Y, Shacter E. Fas aggregation does not correlate with Fas-mediated apoptosis. J Immunol. 2001;167:82-9 pubmed..These results show that Fas aggregation and Fas-mediated apoptosis are not directly correlated and may even be inversely correlated. ..
- Erichsen H, Eck P, Levine M, Chanock S. Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2). J Nutr. 2001;131:2623-7 pubmed..Our findings will serve as the foundation for investigation of the regulation and expression of the tissue-specific sodium-dependent vitamin C transporter, SLC23A2. ..
- Carlson B, Hatfield D. Transfer RNAs that insert selenocysteine. Methods Enzymol. 2002;347:24-39 pubmed
- Ouatas T, Salerno M, Palmieri D, Steeg P. Basic and translational advances in cancer metastasis: Nm23. J Bioenerg Biomembr. 2003;35:73-9 pubmed..This review also discusses therapeutic options on the basis of reexpression of metastasis suppressors. ..
- Bellani M, Romanienko P, Cairatti D, Camerini Otero R. SPO11 is required for sex-body formation, and Spo11 heterozygosity rescues the prophase arrest of Atm-/- spermatocytes. J Cell Sci. 2005;118:3233-45 pubmed
- Rosenberg A. Effects of protein aggregates: an immunologic perspective. AAPS J. 2006;8:E501-7 pubmed
- Zheng P, Dean J. Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis. Proc Natl Acad Sci U S A. 2009;106:7473-8 pubmed publisher..Defects in the well-conserved human homologue could play a similar role and account for recurrent human fetal wastage. ..
- Tanno T, Porayette P, Sripichai O, Noh S, Byrnes C, Bhupatiraju A, et al. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood. 2009;114:181-6 pubmed publisher..These data demonstrate that twisted gastrulation protein interferes with BMP-mediated hepcidin expression and may act with GDF15 to dysregulate iron homeostasis in thalassemia syndromes. ..
- Jozwik C, Pollard H, Srivastava M, Eidelman O, Fan Q, Darling T, et al. Antibody microarrays: analysis of cystic fibrosis. Methods Mol Biol. 2012;823:179-200 pubmed publisher..We describe here a workflow that begins with patient-derived bronchial brush biopsies and progresses to analysis of serum and plasma from patients on antibody microarrays. ..
- Wickner S, Skowyra D, Hoskins J, McKenney K. DnaJ, DnaK, and GrpE heat shock proteins are required in oriP1 DNA replication solely at the RepA monomerization step. Proc Natl Acad Sci U S A. 1992;89:10345-9 pubmed..Thus, the essential role of these three heat shock proteins in this replication system is to change the quaternary structure of a single protein, RepA. ..
- Brown K, Ziv Y, Sadanandan S, Chessa L, Collins F, Shiloh Y, et al. The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. Proc Natl Acad Sci U S A. 1997;94:1840-5 pubmed..These findings are consistent with a role for the ATM protein in ensuring the fidelity of DNA repair and cell cycle regulation following genome damage. ..
- Perez Mediavilla L, Chew C, Campochiaro P, Nickells R, Notario V, Zack D, et al. Sequence and expression analysis of bovine pigment epithelium-derived factor. Biochim Biophys Acta. 1998;1398:203-14 pubmed..Thus, the bovine PEDF cDNA isolated here codes for a functional soluble secreted PEDF glycoprotein. ..
- Asano K, Krishnamoorthy T, Phan L, Pavitt G, Hinnebusch A. Conserved bipartite motifs in yeast eIF5 and eIF2Bepsilon, GTPase-activating and GDP-GTP exchange factors in translation initiation, mediate binding to their common substrate eIF2. EMBO J. 1999;18:1673-88 pubmed..Thus, the bipartite motif in eIF5 appears to be multifunctional, stimulating its recruitment to the 40S pre-initiation complex through interaction with eIF3 in addition to binding of its substrate eIF2. ..
- Tatusov R, Galperin M, Natale D, Koonin E. The COG database: a tool for genome-scale analysis of protein functions and evolution. Nucleic Acids Res. 2000;28:33-6 pubmed..The COG database is accompanied by the COGNITOR program that is used to fit new proteins into the COGs and can be applied to functional and phylogenetic annotation of newly sequenced genomes. ..
- Tong Z, Nelson L, Dean J. Mater encodes a maternal protein in mice with a leucine-rich repeat domain homologous to porcine ribonuclease inhibitor. Mamm Genome. 2000;11:281-7 pubmed..These characterizations of the gene and protein provide the basis for genetic investigations of MATER function in early mammalian development. ..
- Li X, Yang Y, Ashwell J. TNF-RII and c-IAP1 mediate ubiquitination and degradation of TRAF2. Nature. 2002;416:345-7 pubmed..These findings identify a physiologic role for c-IAP1 and define a mechanism by which TNF-RII-regulated ubiquitin protein ligase activity can potentiate TNF-induced apoptosis. ..
- Liu S, Milne G, Kuremsky J, Fink G, Leppla S. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. Mol Cell Biol. 2004;24:9487-97 pubmed..The physiological function of diphthamide and the basis of its ubiquity remain a mystery, but evidence is presented that Dph1 to -3 function in vivo as a protein complex in multiple cellular processes. ..
- Michishita E, Garcés G, Barrett J, Horikawa I. Upregulation of the KIAA1199 gene is associated with cellular mortality. Cancer Lett. 2006;239:71-7 pubmed..These findings suggest that KIAA1199 gene may play a role in cellular mortality of normal human cells, which counters cell immortalization and carcinogenesis. ..
- Smaoui N, Chaabouni M, Sergeev Y, Kallel H, Li S, Mahfoudh N, et al. Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci. 2006;47:3487-95 pubmed
- Chi Y, Cheng L, Myers T, Ward J, Williams E, Su Q, et al. Requirement for Sun1 in the expression of meiotic reproductive genes and piRNA. Development. 2009;136:965-73 pubmed publisher..These findings raise a heretofore unrecognized role of Sun1 in the selective gene expression of coding and non-coding RNAs needed for gametogenesis. ..
- Taylor T, Vaisman I. Discrimination of thermophilic and mesophilic proteins. BMC Struct Biol. 2010;10 Suppl 1:S5 pubmed publisher..Based on our analysis, the strongest contributors to thermostability are an increase in ion pairs on the protein surface and a more strongly hydrophobic interior. ..
- Fitzkee N, Bax A. Facile measurement of ¹H-¹5N residual dipolar couplings in larger perdeuterated proteins. J Biomol NMR. 2010;48:65-70 pubmed publisher..Precision of the RDC measurement is limited by the signal-to-noise ratio, S/N, achievable in the 2D TROSY-HSQC spectrum, and is approximately given by 30/(S/N) Hz. ..
- Kiesewetter D, Jacobson O, Lang L, Chen X. Automated radiochemical synthesis of [18F]FBEM: a thiol reactive synthon for radiofluorination of peptides and proteins. Appl Radiat Isot. 2011;69:410-4 pubmed publisher..The measured specific activity for three batches was 181.3, 251.6, and 351.5 GBq/Î¼mol at the end of bombardment (EOB). ..
- Lee J, Ying J, Bax A. Quantitative evaluation of positive Ï• angle propensity in flexible regions of proteins from three-bond J couplings. Phys Chem Chem Phys. 2016;18:5759-70 pubmed publisher..The combination of (3)JHNC' and (3)JC'C' provides information about the amplitude of Ï• angle dynamics. ..
- Belforte J, Zsiros V, Sklar E, Jiang Z, Yu G, Li Y, et al. Postnatal NMDA receptor ablation in corticolimbic interneurons confers schizophrenia-like phenotypes. Nat Neurosci. 2010;13:76-83 pubmed publisher..These findings suggest that early postnatal inhibition of NMDAR activity in corticolimbic GABAergic interneurons contributes to the pathophysiology of schizophrenia-related disorders. ..
- Lacourciere G, Levine R, Stadtman T. Direct detection of potential selenium delivery proteins by using an Escherichia coli strain unable to incorporate selenium from selenite into proteins. Proc Natl Acad Sci U S A. 2002;99:9150-3 pubmed..A 28-kDa protein identified as deoxyribose phosphate aldolase also contained bound selenium. These (75)Se-labeled proteins may have alternate roles as selenium delivery proteins. ..
- Onodera T, Sakai T, Hsu J, Matsumoto K, Chiorini J, Yamada K. Btbd7 regulates epithelial cell dynamics and branching morphogenesis. Science. 2010;329:562-5 pubmed publisher..Inhibition experiments show that Btbd7 is required for branching of embryonic mammalian salivary glands and lungs. Hence, Btbd7 is a regulatory gene that promotes epithelial tissue remodeling and formation of branched organs. ..
- Chung H, Eaton W. Single-molecule fluorescence probes dynamics of barrier crossing. Nature. 2013;502:685-8 pubmed publisher..It is noteworthy that the new and fundamental information concerning Kramers' theory and the dynamics of barrier crossings obtained here come from experiments on a protein rather than a much simpler chemical or physical system. ..
- Finbloom D, Larner A. Regulation of the Jak/STAT signalling pathway. Cell Signal. 1995;7:739-45 pubmed
- Nir S, Stutzin A, Pollard H. Effect of synexin on aggregation and fusion of chromaffin granule ghosts at pH 6. Biochim Biophys Acta. 1987;903:309-18 pubmed..The analysis showed that the main activity of synexin was an enhancement of the rate of aggregation. At intermediate or excessive synexin concentrations it, respectively, promoted moderately, or inhibited the actual fusion step. ..
- Tkaczyk C, Horejsi V, Iwaki S, Draber P, Samelson L, Satterthwaite A, et al. NTAL phosphorylation is a pivotal link between the signaling cascades leading to human mast cell degranulation following Kit activation and Fc epsilon RI aggregation. Blood. 2004;104:207-14 pubmed..NTAL, thus, appears to be an important link between the signaling pathways that are initiated by these receptors, culminating in mast cell degranulation. ..
- Salgaller M, Liau L. Current status of clinical trials for glioblastoma. Rev Recent Clin Trials. 2006;1:265-81 pubmed..This article summarizes the preclinical proof-of-concept research and human studies involving some of the agents creating the most positive buzz in the medical community. The advantages and limitations of each are described. ..
- Morgulis A, Coulouris G, Raytselis Y, Madden T, Agarwala R, Schäffer A. Database indexing for production MegaBLAST searches. Bioinformatics. 2008;24:1757-64 pubmed publisher..ncbi.nlm.nih.gov/pub/agarwala/indexed_megablast [corrected] Supplementary data are available at Bioinformatics online. ..
- Szentpetery Z, Balla A, Kim Y, Lemmon M, Balla T. Live cell imaging with protein domains capable of recognizing phosphatidylinositol 4,5-bisphosphate; a comparative study. BMC Cell Biol. 2009;10:67 pubmed publisher..These studies also demonstrated that similar changes in PtdIns(4,5)P2 levels in the plasma membrane can differentially regulate multiple effectors if they display different affinities to PtdIns(4,5)P2. ..
- Sherman E, Barr V, Samelson L. Resolving multi-molecular protein interactions by photoactivated localization microscopy. Methods. 2013;59:261-9 pubmed publisher..Our proposed technique, combined with older techniques, could help shed new light on the nature of multimolecular protein complexes and their significance to cell function. ..
- Wang G, Wu W, Pisitkun T, Hoffert J, Knepper M, Shen R. Automated quantification tool for high-throughput proteomics using stable isotope labeling and LC-MSn. Anal Chem. 2006;78:5752-61 pubmed..Compared with a widely used commercial software tool, QUIL showed improvement in ion chromatogram construction and peak integration and significantly reduced relative errors in abundance ratio assessment. ..
- Phillips D, Aponte A, Covian R, Neufeld E, Yu Z, Balaban R. Homogenous protein programming in the mammalian left and right ventricle free walls. Physiol Genomics. 2011;43:1198-206 pubmed publisher..The constant myocyte composition in the LV and RV implies that the ratio of energy metabolism and contractile elements may be optimal for the sustained cardiac contractile activity in the mammalian heart. ..
- Zhang K, Kagan D, DuBois W, Robinson R, Bliskovsky V, Vass W, et al. Mndal, a new interferon-inducible family member, is highly polymorphic, suppresses cell growth, and may modify plasmacytoma susceptibility. Blood. 2009;114:2952-60 pubmed publisher..Mndal is highly polymorphic among inbred mouse strains, because it is absent in 10 of 24 strains. This polymorphism may have implications for other disease modifiers mapping to the same region...
- Matsuo Takasaki M, Lim J, Beanan M, Sato S, Sargent T. Cloning and expression of a novel zinc finger gene, Fez, transcribed in the forebrain of Xenopus and mouse embryos. Mech Dev. 2000;93:201-4 pubmed..The mouse homologue of Fez is similarly expressed in the mouse forebrain by embryonic day 11. ..
- Lokanga R, Entezam A, Kumari D, Yudkin D, Qin M, Smith C, et al. Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat. 2013;34:157-66 pubmed publisher..This could explain, at least in part, the variable penetrance seen in some of these disorders. ..
- Zhang F, Chen H, Zhao L, Liu H, Przytycka T, Zheng J. Generalized logical model based on network topology to capture the dynamical trends of cellular signaling pathways. BMC Syst Biol. 2016;10 Suppl 1:7 pubmed publisher..The proposed simulation tool provides a valuable resource for modeling cellular signaling pathways using a knowledge-based method. ..
- Yasumoto K, Watabe H, Valencia J, Kushimoto T, Kobayashi T, Appella E, et al. Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment. J Biol Chem. 2004;279:28330-8 pubmed..Once this structural reorganization occurs, melanogenic enzymes begin to be targeted to the melanosomes, which are then competent to synthesize melanin pigment. ..
- Kobayashi T, Urabe K, Winder A, Jimenez Cervantes C, Imokawa G, Brewington T, et al. Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J. 1994;13:5818-25 pubmed..This enzyme activity appears to be essential to the further metabolism of DHICA to a high molecular weight pigmented biopolymer. ..
- Di Francesco V, Geetha V, Garnier J, Munson P. Fold recognition using predicted secondary structure sequences and hidden Markov models of protein folds. Proteins. 1997;Suppl 1:123-8 pubmed..We conclude that we have additional evidence that secondary structure information represents an important factor for achieving fold recognition. ..
- Hel Z, Johnson J, Tryniszewska E, Tsai W, Harrod R, Fullen J, et al. A novel chimeric Rev, Tat, and Nef (Retanef) antigen as a component of an SIV/HIV vaccine. Vaccine. 2002;20:3171-86 pubmed..No adverse effects were observed in either naive or SIV-infected rhesus macaques. Thus, an analogous HIV-1-based chimeric vaccine may represent useful component of an HIV-1 vaccine. ..
- Becerra S, Fariss R, Wu Y, Montuenga L, Wong P, Pfeffer B. Pigment epithelium-derived factor in the monkey retinal pigment epithelium and interphotoreceptor matrix: apical secretion and distribution. Exp Eye Res. 2004;78:223-34 pubmed..PEDF can be a useful marker for RPE polarization and differentiation. The polarization of RPE may be an important mechanism to control PEDF secretion and our results offer interesting possibilities on regulation of PEDF. ..
- Stratakis C, Matyakhina L, Courkoutsakis N, Patronas N, Voutetakis A, Stergiopoulos S, et al. Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex). Front Horm Res. 2004;32:253-64 pubmed
- Doyle J, DeSilva U, Miller W, Green E. Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet Cell Genet. 2000;90:285-90 pubmed..These findings reveal another interesting evolutionary difference between the human and mouse WS regions and provide an additional candidate gene to evaluate with respect to its possible role in the pathogenesis of WS. ..
- Tang P, Cheng T, Agnello D, Wu C, Hissong B, Watford W, et al. Cybr, a cytokine-inducible protein that binds cytohesin-1 and regulates its activity. Proc Natl Acad Sci U S A. 2002;99:2625-9 pubmed..Because the binding protein modified activation of ADP ribosylation factor by cytohesin-1, we designate this cytokine-inducible protein Cybr (cytohesin binder and regulator). ..
- Li Q, Yunmbam M, Zhong X, Yu J, Mimnaugh E, Neckers L, et al. Lactacystin enhances cisplatin sensitivity in resistant human ovarian cancer cell lines via inhibition of DNA repair and ERCC-1 expression. Cell Mol Biol (Noisy-le-grand). 2001;47 Online Pub:OL61-72 pubmed
- Yu B, van Ingen H, Vivekanandan S, Rademacher C, Norris S, FREEDBERG D. More accurate 1J(CH) coupling measurement in the presence of 3J(HH) strong coupling in natural abundance. J Magn Reson. 2012;215:10-22 pubmed publisher..We conclude that spectral simulation yields accurate (1)J(CH) with errors as low as 1% in the presence of strong coupling. ..
- Kushimoto T, Basrur V, Valencia J, Matsunaga J, Vieira W, Ferrans V, et al. A model for melanosome biogenesis based on the purification and analysis of early melanosomes. Proc Natl Acad Sci U S A. 2001;98:10698-703 pubmed..These results provide a better understanding of the structural features seen during melanosome biogenesis, and they yield further clues as to the physiological regulation of pigmentation. ..
- Jang L, Lee Z, Kim H, Hill J, Kim J, Kwon B. A novel leucine-rich repeat protein (LRR-1): potential involvement in 4-1BB-mediated signal transduction. Mol Cells. 2001;12:304-12 pubmed..In addition, LRR-1 down-regulated JNK1 activity was induced by 4-1BB. These results indicate that LRR-1 negatively regulates the 4-1BB-mediated signaling cascades which result in the activation of NF-kappaB and JNK1. ..
- Takada K, Aksentijevich I, Mahadevan V, Dean J, Kelley R, Kastner D. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003;48:2645-51 pubmed..Our favorable experience with etanercept for the treatment of HIDS suggests that further investigation of this therapy is warranted. ..
- Paisan Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008;70:1384-9 pubmed publisher..We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia. ..
- Cellmer T, Henry E, Hofrichter J, Eaton W. Measuring internal friction of an ultrafast-folding protein. Proc Natl Acad Sci U S A. 2008;105:18320-5 pubmed publisher..This finding is consistent with the excellent correlation found between experimental and calculated folding rates based on free energy barrier heights using the same diffusion coefficient for every protein. ..
- Wahl S, McNeely T, Janoff E, Shugars D, Worley P, Tucker C, et al. Secretory leukocyte protease inhibitor (SLPI) in mucosal fluids inhibits HIV-I. Oral Dis. 1997;3 Suppl 1:S64-9 pubmed..The high functional levels of SLPI in saliva and the low levels in mature breast milk correlate with negligible rates of HIV-1 transmission by saliva and higher rates by breast feeding. ..
- Frank E, Sayer J, Kroth H, Ohashi E, Ohmori H, Jerina D, et al. Translesion replication of benzo[a]pyrene and benzo[c]phenanthrene diol epoxide adducts of deoxyadenosine and deoxyguanosine by human DNA polymerase iota. Nucleic Acids Res. 2002;30:5284-92 pubmed..In many cases, elongation would, however, require the participation of another polymerase more specialized in extension, such as polkappa. ..
- Vocke C, Yang Y, Pavlovich C, Schmidt L, Nickerson M, Torres Cabala C, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst. 2005;97:931-5 pubmed..These results support a role for BHD as a tumor suppressor gene that predisposes to the development of renal tumors when both copies are inactivated. ..
- Bakowska J, Jupille H, Fatheddin P, Puertollano R, Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking. Mol Biol Cell. 2007;18:1683-92 pubmed..Taken together, our data suggest that spartin is involved in the intracellular trafficking of EGFR and that impaired endocytosis may underlie the pathogenesis of Troyer syndrome. ..
- Zichel R, Chearwae W, Pandey G, Golding B, Sauna Z. Aptamers as a sensitive tool to detect subtle modifications in therapeutic proteins. PLoS ONE. 2012;7:e31948 pubmed publisher..The technique can provide an early warning of structural changes during the manufacturing process that could have consequential outcomes downstream. ..
- Vogel J, Kristie T. The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP. EMBO J. 2000;19:683-90 pubmed..The interaction and coordinated assembly of the enhancer proteins by the C1 factor may be critical for the regulation of the HSV lytic-latent cycle. ..
- Pruitt K, Tatusova T, Klimke W, Maglott D. NCBI Reference Sequences: current status, policy and new initiatives. Nucleic Acids Res. 2009;37:D32-6 pubmed publisher..In addition, we introduce RefSeqGene, a new initiative to support reporting variation data on a stable genomic coordinate system. ..
- McCombie W, Martin Gallardo A, Gocayne J, Fitzgerald M, Dubnick M, Kelley J, et al. Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3. Nat Genet. 1992;1:348-53 pubmed..The structure of one of the new genes, hda1-1, has been determined by characterizing cDNAs from a placental library. This gene is expressed in a variety of tissues and may encode a novel housekeeping gene. ..
- Dell Angelica E, Puertollano R, Mullins C, Aguilar R, Vargas J, Hartnell L, et al. GGAs: a family of ADP ribosylation factor-binding proteins related to adaptors and associated with the Golgi complex. J Cell Biol. 2000;149:81-94 pubmed..Disruption of both GGA genes in yeast resulted in impaired trafficking of carboxypeptidase Y to the vacuole. These observations suggest that GGAs are components of ARF-regulated coats that mediate protein trafficking at the TGN. ..
- Lipman D, Souvorov A, Koonin E, Panchenko A, Tatusova T. The relationship of protein conservation and sequence length. BMC Evol Biol. 2002;2:20 pubmed..For all the organisms studied, there seems to be a significant evolutionary trend favoring shorter proteins in the absence of other, more specific functional constraints. ..
- Yu Y, Wootton J, Altschul S. The compositional adjustment of amino acid substitution matrices. Proc Natl Acad Sci U S A. 2003;100:15688-93 pubmed..Composition-specific substitution matrix adjustment is shown to be of utility for comparing compositionally biased proteins, including those of organisms with nucleotide-biased, and therefore codon-biased, genomes or isochores. ..
- Ulucan H, Gul D, Sapp J, Cockerham J, Johnston J, Biesecker L. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. BMC Med Genet. 2008;9:92 pubmed publisher..The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance...
- Lesourne R, Uehara S, Lee J, Song K, Li L, Pinkhasov J, et al. Themis, a T cell-specific protein important for late thymocyte development. Nat Immunol. 2009;10:840-7 pubmed publisher..Our results identify Themis as a critical component of the T cell developmental program and suggest that Themis functions to sustain and/or integrate signals required for proper lineage commitment and maturation. ..
- Huang J, Dorsey J, Chuikov S, PÃ©rez Burgos L, Zhang X, Jenuwein T, et al. G9a and Glp methylate lysine 373 in the tumor suppressor p53. J Biol Chem. 2010;285:9636-41 pubmed publisher..These data reveal a new methylation site within p53 mediated by the methylases G9a and Glp and indicate that G9a is a potential inhibitory target for cancer treatment. ..
- Li Q, Ding L, Reed E. Proteasome inhibition suppresses cisplatin-dependent ERCC-1 mRNA expression in human ovarian tumor cells. Res Commun Mol Pathol Pharmacol. 2000;107:387-96 pubmed..These results suggest that the effect of proteasome inhibition on cisplatin cytotoxicity, DNA platination, and DNA repair of cisplatin adducts in ovarian cancer cells may be through down-regulating ERCC-1 expression. ..
- Woszczek G, Chen L, Nagineni S, Kern S, Barb J, Munson P, et al. Leukotriene D(4) induces gene expression in human monocytes through cysteinyl leukotriene type I receptor. J Allergy Clin Immunol. 2008;121:215-221.e1 pubmed..Our data show that CysLTs acting through CysLTR(1) can significantly influence the activation and migration of human monocytes and that these effects can be fully inhibited by CysLTR(1) antagonists. ..