Genomes and Genes
Experts and Doctors on molecular sequence data in Philadelphia, Pennsylvania, United States
Locale: Philadelphia, Pennsylvania, United States
Topic: molecular sequence data
Publications578 found, 100 shown here
- Opella S, Marassi F, Gesell J, Valente A, Kim Y, Oblatt Montal M, et al. Structures of the M2 channel-lining segments from nicotinic acetylcholine and NMDA receptors by NMR spectroscopy. Nat Struct Biol. 1999;6:374-9 pubmed..A model built from these solid-state NMR data, and assuming a symmetric pentameric arrangement of M2 helices, results in a funnel-like architecture for the channel, with the wide opening on the N-terminal intracellular side. ..
- Syed V, Gomez E, Hecht N. Messenger ribonucleic acids encoding a serotonin receptor and a novel gene are induced in Sertoli cells by a secreted factor(s) from male rat meiotic germ cells. Endocrinology. 1999;140:5754-60 pubmed..The induction of a serotonin receptor mRNA and a second novel mRNA in Sertoli cells by pachytene spermatocytes demonstrates that meiotic germ cells induce mRNA encoding an important receptor in Sertoli cells. ..
- Thisted T, Lyakhov D, Liebhaber S. Optimized RNA targets of two closely related triple KH domain proteins, heterogeneous nuclear ribonucleoprotein K and alphaCP-2KL, suggest Distinct modes of RNA recognition. J Biol Chem. 2001;276:17484-96 pubmed
- Jin Y, Stayrook S, Albert R, Palackal N, Penning T, Lewis M. Crystal structure of human type III 3alpha-hydroxysteroid dehydrogenase/bile acid binding protein complexed with NADP(+) and ursodeoxycholate. Biochemistry. 2001;40:10161-8 pubmed
- Han Z, Boshra H, Sunyer J, Zwiers S, Paragas J, Harty R. Biochemical and functional characterization of the Ebola virus VP24 protein: implications for a role in virus assembly and budding. J Virol. 2003;77:1793-800 pubmed..These data indicate that VP24 possesses structural features commonly associated with viral matrix proteins and that VP24 may have a role in virus assembly and budding...
- Chennathukuzhi V, Morales C, El Alfy M, Hecht N. The kinesin KIF17b and RNA-binding protein TB-RBP transport specific cAMP-responsive element modulator-regulated mRNAs in male germ cells. Proc Natl Acad Sci U S A. 2003;100:15566-71 pubmed
- Kotzbauer P, Truax A, Trojanowski J, Lee V. Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J Neurosci. 2005;25:689-98 pubmed..These results suggest that NBIA is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity. ..
- Markova M, Koratkar R, Silverman K, Sollars V, MacPhee Pellini M, Walters R, et al. Diversity in secreted PLA2-IIA activity among inbred mouse strains that are resistant or susceptible to Apc Min/+ tumorigenesis. Oncogene. 2005;24:6450-8 pubmed..This approach enables further studies of the mechanisms of sPLA2 action influencing the development and tumorigenesis of the small intestine and colon in both mice and humans. ..
- Greco T, Hodara R, Parastatidis I, Heijnen H, Dennehy M, Liebler D, et al. Identification of S-nitrosylation motifs by site-specific mapping of the S-nitrosocysteine proteome in human vascular smooth muscle cells. Proc Natl Acad Sci U S A. 2006;103:7420-5 pubmed..Interestingly, seven of the 18 proteins identified are localized within the ER/Golgi complex, suggesting a role for S-nitrosylation in membrane trafficking and ER stress response in vascular smooth muscle. ..
- Casta L, Buguliskis J, Matsumoto Y, Taraschi T. Expression and biochemical characterization of the Plasmodium falciparum DNA repair enzyme, flap endonuclease-1 (PfFEN-1). Mol Biochem Parasitol. 2008;157:1-12 pubmed..Plasmodium FEN-1s have enzymatic activities similar to other species but contain extended C-termini and a more internally located PCNA-binding site. ..
- Moore D, Berger B, Degrado W. Protein-protein interactions in the membrane: sequence, structural, and biological motifs. Structure. 2008;16:991-1001 pubmed publisher..We believe that TM interactions are potential therapeutic targets, as evidenced by natural proteins that modulate other TM interactions and recent developments in the design of TM-targeting peptides. ..
- Lau C, Bachorik J, Dreyfuss G. Gemin5-snRNA interaction reveals an RNA binding function for WD repeat domains. Nat Struct Mol Biol. 2009;16:486-91 pubmed publisher..The WD repeat domain is thus a previously undescribed RNA binding domain, and we suggest that the presence of WD repeats should be considered as predictive of potential function in RNA binding. ..
- Ma Z, Kong J, Kallen R. Studies of alpha-helicity and intersegmental interactions in voltage-gated Na+ channels: S2D4. PLoS ONE. 2009;4:e7674 pubmed publisher..4D4 similar to but not identical to those proposed for K+ channels. ..
- Urbanc B, Betnel M, Cruz L, Bitan G, Teplow D. Elucidation of amyloid beta-protein oligomerization mechanisms: discrete molecular dynamics study. J Am Chem Soc. 2010;132:4266-80 pubmed publisher..The oligomer structure of both Arctic peptides resembled Abeta(1-42) more than Abeta(1-40), consistent with their potentially more toxic nature. ..
- La Rocca G, Shi B, Sepp Lorenzino L, Baserga R. Expression of micro-RNA-145 is regulated by a highly conserved genomic sequence 3' to the pre-miR. J Cell Physiol. 2011;226:602-7 pubmed publisher..We show here that flanking sequences on either side of the pre-miR sequence can modulate its expression levels. Surprisingly, a highly conserved sequence 3' to the pre-miR plays a crucial role in miR145 expression. ..
- Phillips J, Weiss S. Pathogenesis of neurotropic murine coronavirus is multifactorial. Trends Pharmacol Sci. 2011;32:2-7 pubmed publisher..We propose that the extreme neurovirulence of JHM.SD is multifactorial and might include as yet unidentified neuron-specific spread mechanisms. ..
- Zhang R, So B, Li P, Yong J, Glisovic T, Wan L, et al. Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly. Cell. 2011;146:384-95 pubmed publisher..These findings provide insight into SMN complex assembly and specificity, linking snRNP biogenesis and SMA pathogenesis. ..
- Gone S, Nicholson A. Bacteriophage T7 protein kinase: Site of inhibitory autophosphorylation, and use of dephosphorylated enzyme for efficient modification of protein in vitro. Protein Expr Purif. 2012;85:218-23 pubmed publisher..The inability to isolate the presumptive autophosphorylation-resistant T7PK Ser216Ala mutant indicates a toxicity of the phosphotransferase activity and suggests a role for Ser216 modification in limiting T7PK activity during infection...
- Linnenbach A, Wojcierowski J, Wu S, Pyrc J, Ross A, Dietzschold B, et al. Sequence investigation of the major gastrointestinal tumor-associated antigen gene family, GA733. Proc Natl Acad Sci U S A. 1989;86:27-31 pubmed..A more evolutionarily distant relationship was found with the alpha chain of the interleukin 2 growth factor receptor. ..
- Sierra F, Walter R, Vautravers P, Guigoz Y. Identification of several isoforms of T-kininogen expressed in the liver of aging rats. Arch Biochem Biophys. 1995;322:333-8 pubmed..From our data we conclude that (i) Several isoforms of T-KG are expressed in the liver of senescent Sprague-Dawley rats and (ii) T1 kininogens appear to be the most highly represented T-KG mRNA species in old rat livers. ..
- Demuth D, Savary R, Golub E, Shenker B. Identification and analysis of fipA, a Fusobacterium nucleatum immunosuppressive factor gene. Infect Immun. 1996;64:1335-41 pubmed
- Evans J, Kopf G, Schultz R. Characterization of the binding of recombinant mouse sperm fertilin beta subunit to mouse eggs: evidence for adhesive activity via an egg beta1 integrin-mediated interaction. Dev Biol. 1997;187:79-93 pubmed..These results suggest that a beta1-containing integrin participates in the binding of recombinant fertilin beta-EC to mouse eggs. ..
- Haas N, Grabowski J, Sivitz A, Burch J. Chicken repeat 1 (CR1) elements, which define an ancient family of vertebrate non-LTR retrotransposons, contain two closely spaced open reading frames. Gene. 1997;197:305-9 pubmed..These results suggest that CR1 elements retrotranspose using a "nick and prime" mechanism similar (but not identical) to other families of non-LTR elements. ..
- Hsu T, Shore S, Seshsmma T, Bagasra O, Walsh P. Molecular cloning of platelet factor XI, an alternative splicing product of the plasma factor XI gene. J Biol Chem. 1998;273:13787-93 pubmed..Thus, platelet factor XI is an alternative splicing product of the factor XI gene, localized to platelets and megakaryocytes but absent from other blood cells. ..
- DeGraff J, Gagnon A, Benovic J, Orsini M. Role of arrestins in endocytosis and signaling of alpha2-adrenergic receptor subtypes. J Biol Chem. 1999;274:11253-9 pubmed..However, endocytosis does not appear to be required for alpha2-adrenergic, epidermal growth factor, lysophosphatidic acid, or beta2-adrenergic receptor-mediated p42/p44 MAP kinase activation in COS-1 cells. ..
- Kieber Emmons T, Luo P, Qiu J, Chang T, O I, Blaszczyk Thurin M, et al. Vaccination with carbohydrate peptide mimotopes promotes anti-tumor responses. Nat Biotechnol. 1999;17:660-5 pubmed
- Srinivasula S, Datta P, Fan X, Fernandes Alnemri T, Huang Z, Alnemri E. Molecular determinants of the caspase-promoting activity of Smac/DIABLO and its role in the death receptor pathway. J Biol Chem. 2000;275:36152-7 pubmed..Combined, these data suggest that Smac/DIABLO plays a critical role in neutralizing IAP inhibition of the effector caspases in the death receptor pathway of Type II cells. ..
- Gardner H, Belka G, Wertheim G, Hartman J, Ha S, Gimotty P, et al. Developmental role of the SNF1-related kinase Hunk in pregnancy-induced changes in the mammary gland. Development. 2000;127:4493-509 pubmed..Together, these observations suggest that Hunk may contribute to changes in the mammary gland that occur during pregnancy in response to ovarian hormones. ..
- Bachmanov A, Li X, Reed D, Ohmen J, Li S, Chen Z, et al. Positional cloning of the mouse saccharin preference (Sac) locus. Chem Senses. 2001;26:925-33 pubmed..This study provides compelling evidence that Tas1r3 is equivalent to the Sac locus and that the T1R3 receptor responds to sweeteners. ..
- Druck T, Podolski J, Byrski T, Wyrwicz L, Zajaczek S, Kata G, et al. The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. J Hum Genet. 2001;46:583-9 pubmed..Mutations in the second DIRC1 allele were not detected. Further studies will be required to determine if disruption of the DIRC1 gene contributed to development of the associated familial clear cell renal cancers. ..
- Chong J, Uren A, Rubin J, Speicher D. Disulfide bond assignments of secreted Frizzled-related protein-1 provide insights about Frizzled homology and netrin modules. J Biol Chem. 2002;277:5134-44 pubmed..The major C-terminal processing event was removal of the terminal amino acid (Lys(313)) with only a trace amount of unprocessed protein detected. ..
- Greene S, Yuan Z, Wright J, Amjad H, Abrams W, Buchanan J, et al. A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. Arch Oral Biol. 2002;47:211-7 pubmed..While greater than 60% of the protein is predicted to be intact, the severity of this phenotype illustrates the importance of the C-terminal region of the amelogenin protein for the formation of enamel with normal thickness. ..
- Simone C, Bagella L, Bellan C, Giordano A. Physical interaction between pRb and cdk9/cyclinT2 complex. Oncogene. 2002;21:4158-65 pubmed
- Bieganowski P, Brenner C. The reported human NADsyn2 is ammonia-dependent NAD synthetase from a pseudomonad. J Biol Chem. 2003;278:33056-9 pubmed..Here we establish that the so-called NADsyn2 is simply ammonia-dependent NAD+ synthetase from Pseudomonas, which is encoded on an operon with nicotinic acid phosphoribosyltransferase and, in some Pseudomonads, with nicotinamidase. ..
- Gillis L, McCallum J, Kaur M, Descipio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004;75:610-23 pubmed..Analysis also suggested a trend toward a milder phenotype in individuals with missense mutations than in those with other types of mutations. ..
- Ibanez de Caceres I, Dulaimi E, Hoffman A, Al Saleem T, Uzzo R, Cairns P. Identification of novel target genes by an epigenetic reactivation screen of renal cancer. Cancer Res. 2006;66:5021-8 pubmed
- Wang L, Figueredo J, Calcedo R, Lin J, Wilson J. Cross-presentation of adeno-associated virus serotype 2 capsids activates cytotoxic T cells but does not render hepatocytes effective cytolytic targets. Hum Gene Ther. 2007;18:185-94 pubmed
- Zhang Q, Wang H, Liu X, Wasik M. STAT5A is epigenetically silenced by the tyrosine kinase NPM1-ALK and acts as a tumor suppressor by reciprocally inhibiting NPM1-ALK expression. Nat Med. 2007;13:1341-8 pubmed..These results show that NPM1-ALK induces epigenetic silencing of STAT5A gene and that STAT5A protein can act as a key tumor suppressor by reciprocally inhibiting expression of NPM1-ALK. ..
- Seavey M, Pan Z, Maciag P, Wallecha A, Rivera S, Paterson Y, et al. A novel human Her-2/neu chimeric molecule expressed by Listeria monocytogenes can elicit potent HLA-A2 restricted CD8-positive T cell responses and impact the growth and spread of Her-2/neu-positive breast tumors. Clin Cancer Res. 2009;15:924-32 pubmed publisher..These encouraging results support future clinical trials using this chimera vaccine and may be applicable to other cancer types expressing the Her-2/neu molecule such as colorectal and pancreatic cancer. ..
- Sepulveda A, Jones D, Ogino S, Samowitz W, Gulley M, Edwards R, et al. CpG methylation analysis--current status of clinical assays and potential applications in molecular diagnostics: a report of the Association for Molecular Pathology. J Mol Diagn. 2009;11:266-78 pubmed publisher..We then conclude by summarizing the most promising areas for future clinical testing in cancer molecular diagnostics. ..
- Luo J, Taylor P, Losen M, De Baets M, Shelton G, Lindstrom J. Main immunogenic region structure promotes binding of conformation-dependent myasthenia gravis autoantibodies, nicotinic acetylcholine receptor conformation maturation, and agonist sensitivity. J Neurosci. 2009;29:13898-908 pubmed publisher..This reveals a structural and functional, as well as antigenic, significance of the MIR. ..
- Ghosh A, Qiu J, Degrado W, Hochstrasser R. Tidal surge in the M2 proton channel, sensed by 2D IR spectroscopy. Proc Natl Acad Sci U S A. 2011;108:6115-20 pubmed publisher..1.3 ps at pH 6.2. Thus, protonation of His37 at low pH causes liquid-like water molecules to flow into the neighborhood of the Gly34. ..
- Yi C, Troutman S, Fera D, Stemmer Rachamimov A, Avila J, Christian N, et al. A tight junction-associated Merlin-angiomotin complex mediates Merlin's regulation of mitogenic signaling and tumor suppressive functions. Cancer Cell. 2011;19:527-40 pubmed publisher..Depletion of Angiomotin in Nf2(-/-) Schwann cells attenuates the Ras-MAPK signaling pathway, impedes cellular proliferation in vitro and tumorigenesis in vivo. ..
- Sundstrom S, Komm B, Ponce de Leon H, Yi Z, Teuscher C, Lyttle C. Estrogen regulation of tissue-specific expression of complement C3. J Biol Chem. 1989;264:16941-7 pubmed..Based on biophysical, DNA sequence, and antibody data we conclude that rat uterine epithelial cells produce C3 in response to estradiol whereas the expression in the liver was not modulated by estrogens. ..
- Philp N, Chu P, Pan T, Zhang R, Chu M, Stark K, et al. Developmental expression and molecular cloning of REMP, a novel retinal epithelial membrane protein. Exp Cell Res. 1995;219:64-73 pubmed..The unique expression of REMP in the RPE in vivo would suggest a role for this protein in development and maintenance of normal retinal function. ..
- Taylor J, Pomerantz R, Oakes J, Khalili K, Amini S. A CNS-enriched factor that binds to NF-kappa B and is required for interaction with HIV-1 tat. Oncogene. 1995;10:395-400 pubmed
- Bullrich F, MacLachlan T, Sang N, Druck T, Veronese M, Allen S, et al. Chromosomal mapping of members of the cdc2 family of protein kinases, cdk3, cdk6, PISSLRE, and PITALRE, and a cdk inhibitor, p27Kip1, to regions involved in human cancer. Cancer Res. 1995;55:1199-205 pubmed..In particular, two of the kinases, cdk3 and PISSLRE and PITALRE, the cdc2-related kinases recently cloned by us, map to regions previously shown to exhibit loss of heterozygosity in breast and other tumors. ..
- Jaiswal A. Human NAD(P)H:quinone oxidoreductase2. Gene structure, activity, and tissue-specific expression. J Biol Chem. 1994;269:14502-8 pubmed
- Chakraborty S, Rafi M, Wenger D. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. Am J Hum Genet. 1994;54:1004-13 pubmed..It appears that the C-->T mutation results in enough functional enzyme to produce a mild adult form of the disease, even in the presence of a second mutation that likely produces nonfunctional enzyme. ..
- Grubmeyer C, Segura E, Dorfman R. Active site lysines in orotate phosphoribosyltransferase. J Biol Chem. 1993;268:20299-304 pubmed
- Burch J, Davis D, Haas N. Chicken repeat 1 elements contain a pol-like open reading frame and belong to the non-long terminal repeat class of retrotransposons. Proc Natl Acad Sci U S A. 1993;90:8199-203 pubmed..This result suggests that CR1-like elements exist in several vertebrate classes that have evolved independently for approximately 400 million years. ..
- Copeland N, Gilbert D, Li K, Sawamura D, Giudice G, Chu M, et al. Chromosomal localization of mouse bullous pemphigoid antigens. BPAG1 and BPAG2: identification of a new region of homology between mouse and human chromosomes. Genomics. 1993;15:180-1 pubmed..Bpag-2 mapped to the distal end of mouse chromosome 19 in a region of homology to human chromosome 10q. These assignments confirm and extend the relationships between the human and the mouse chromosomes. ..
- Ludlow L, Schick B, Budarf M, Driscoll D, Zackai E, Cohen A, et al. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem. 1996;271:22076-80 pubmed
- Pulkkinen L, Smith F, Shimizu H, Murata S, Yaoita H, Hachisuka H, et al. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet. 1996;5:1539-46 pubmed..The function of plectin as a putative attachment protein also in the muscle would explain the clinical phenotype consisting of cutaneous fragility and muscular dystrophy in EB-MD. ..
- Ahmad M, Jarillo J, Klimczak L, Landry L, Peng T, Last R, et al. An enzyme similar to animal type II photolyases mediates photoreactivation in Arabidopsis. Plant Cell. 1997;9:199-207 pubmed
- Barnes G, Alexander P, Hsu C, Mariani B, Tuan R. Cloning and characterization of chicken Paraxis: a regulator of paraxial mesoderm development and somite formation. Dev Biol. 1997;189:95-111 pubmed..These data provide evidence that Paraxis acts as an important regulator of paraxial mesoderm and somite development and functions in axial patterning of the chick embryo. ..
- Waterman M, Stavridi E, Waterman J, Halazonetis T. ATM-dependent activation of p53 involves dephosphorylation and association with 14-3-3 proteins. Nat Genet. 1998;19:175-8 pubmed..Consistent with the lack of p53 activation by IR in ataxia telangiectasia (AT; refs 14,15), neither Ser376 dephosphorylation, nor the interaction of p53 with 14-3-3 proteins occurred in AT cells. ..
- Rojas K, Serrano de la Pena L, Gallardo T, Simmons A, Nyce K, McGrath R, et al. Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. Genomics. 1999;62:177-83 pubmed
- Ishikawa H, Li K, Tamai K, Sawamura D, Uitto J. Cloning of the mouse desmoglein 3 gene (Dsg3): interspecies conservation within the cadherin superfamily. Exp Dermatol. 2000;9:229-39 pubmed..This relatively high level of conservation both at the protein and genomic level suggests that desmoglein 3 plays an important role in keratinocyte cell-cell adhesion. ..
- Yu J, Russell J. Structural and functional analysis of an mRNP complex that mediates the high stability of human beta-globin mRNA. Mol Cell Biol. 2001;21:5879-88 pubmed..In combination, the in vitro and in vivo analyses indicate that the high stabilities of the alpha- and beta-globin mRNAs are maintained through related mRNP complexes that may share a common regulatory pathway. ..
- Lipman R, Wang J, Sowers K, Hou Y. Prevention of mis-aminoacylation of a dual-specificity aminoacyl-tRNA synthetase. J Mol Biol. 2002;315:943-9 pubmed..Prevention of mis-placement by alteration of the core structure or by nucleotide modifications in the tRNA illustrates a novel strategy of the dual-specificity synthetase. ..
- Mukhtar M, Harley S, Chen P, Bouhamdan M, Patel C, Acheampong E, et al. Primary isolated human brain microvascular endothelial cells express diverse HIV/SIV-associated chemokine coreceptors and DC-SIGN and L-SIGN. Virology. 2002;297:78-88 pubmed..These data will assist in further understanding lentiviral entry into the CNS. ..
- Naso M, Uitto J, Klement J. Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression. J Invest Dermatol. 2003;121:1469-78 pubmed..Collectively, these findings attest to the complex regulation of Col7a1 transcription in epidermal keratinocytes. ..
- Isken O, Grassmann C, Yu H, Behrens S. Complex signals in the genomic 3' nontranslated region of bovine viral diarrhea virus coordinate translation and replication of the viral RNA. RNA. 2004;10:1637-52 pubmed..Our data suggest the accuracy of translation termination as a sophisticated device determining viral adaptation to the host. ..
- Doyle G, Sheng X, Lin S, Press D, Grice D, Buono R, et al. Identification of five mouse mu-opioid receptor (MOR) gene (Oprm1) splice variants containing a newly identified alternatively spliced exon. Gene. 2007;395:98-107 pubmed..These exon 19-containing splice variants add to the growing complexity of the mouse Oprm1 gene. ..
- de Zoeten E, Lee I, Wang L, Chen C, Ge G, Wells A, et al. Foxp3 processing by proprotein convertases and control of regulatory T cell function. J Biol Chem. 2009;284:5709-16 pubmed publisher..Our results indicate that the generation of fully functionally competent Tregs is complex and dependent on the generation of multiple forms of Foxp3 that have differing effects on Treg cytokine production and suppressive function. ..
- Zangerl B, Wickström K, Slavik J, Lindauer S, Ahonen S, Schelling C, et al. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis. 2010;16:2791-804 pubmed..Moreover, analyses of multiple canine models will provide additional insight into the molecular basis underlying diseases caused by mutations in BEST1. ..
- Ren D. Sodium leak channels in neuronal excitability and rhythmic behaviors. Neuron. 2011;72:899-911 pubmed publisher..This review discusses the properties of the NALCN complex, its regulation, and its contribution to neuronal function and animal behavior. ..
- Gafvels M, Caird M, Britt D, Jackson C, Patterson D, Strauss J. Cloning of a cDNA encoding a putative human very low density lipoprotein/apolipoprotein E receptor and assignment of the gene to chromosome 9pter-p23. Somat Cell Mol Genet. 1993;19:557-69 pubmed
- Siomi H, Choi M, Siomi M, Nussbaum R, Dreyfuss G. Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell. 1994;77:33-9 pubmed..These results demonstrate an essential role for KH domains in RNA binding. Furthermore, they strengthen the connection between fragile X syndrome and loss of the RNA binding activity of FMR1. ..
- Karki S, LaMonte B, Holzbaur E. Characterization of the p22 subunit of dynactin reveals the localization of cytoplasmic dynein and dynactin to the midbody of dividing cells. J Cell Biol. 1998;142:1023-34 pubmed..We therefore propose that dynein/dynactin complexes may have a novel function during cytokinesis. ..
- Tang W, Tseng H. A GC-rich sequence within the 5' untranslated region of human basonuclin mRNA inhibits its translation. Gene. 1999;237:35-44 pubmed..In vitro study showed that translation of basonuclin RNA containing this putative structure could not be initiated efficiently from the first two AUGs, whereas those that lacked it could. ..
- Lau C, Diem M, Dreyfuss G, Van Duyne G. Structure of the Y14-Magoh core of the exon junction complex. Curr Biol. 2003;13:933-41 pubmed..The structure and properties of the Y14-Magoh complex suggest how the pre-mRNA splicing machinery might control the formation of a stable EJC-mRNA complex at splice junctions. ..
- Hong R, Macfarlan T, Kutney S, Seo S, Mukai Y, Yelin F, et al. The identification of phosphorylation sites of pp32 and biochemical purification of a cellular pp32-kinase. Biochemistry. 2004;43:10157-65 pubmed
- Frankel F, Hsu C, Myers J, Lin E, Lyttle C, Komm B, et al. Regulation of alpha 2(I), alpha 1(III), and alpha 2(V) collagen mRNAs by estradiol in the immature rat uterus. DNA. 1988;7:347-54 pubmed..The third induction, however, was suppressed relative to the first, suggesting that estrogen-stimulated factors may act to negatively regulate the uterine response to estrogen. ..
- Nagayoshi T, Sanborn D, Hickok N, Olsen D, Fazio M, Chu M, et al. Human nidogen: complete amino acid sequence and structural domains deduced from cDNAs, and evidence for polymorphism of the gene. DNA. 1989;8:581-94 pubmed..One of the polymorphisms revealed an allelic frequency of 0.52/0.48. Thus, human nidogen gene displays RFLPs which provide analytical tools to establish genetic linkage between the nidogen gene and a clinical phenotype. ..
- Pulkkinen L, Christiano A, Gerecke D, Wagman D, Burgeson R, Pittelkow M, et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics. 1994;24:357-60 pubmed..This is the first description of a mutation in the laminin beta 3 chain gene (LAMB3) of laminin 5 in an H-JEB patient. ..
- Vara Prasad M, Shore S, Dhanasekaran N. Activated mutant of G alpha 13 induces Egr-1, c-fos, and transformation in NIH 3T3 cells. Oncogene. 1994;9:2425-9 pubmed
- Misra Press A, Cooke N, Liebhaber S. Complex alternative splicing partially inactivates the human chorionic somatomammotropin-like (hCS-L) gene. J Biol Chem. 1994;269:23220-9 pubmed
- Alnemri E, Fernandes Alnemri T, Nelki D, Dudley K, DuBois G, Litwack G. Overexpression, characterization, and purification of a recombinant mouse immunophilin FKBP-52 and identification of an associated phosphoprotein. Proc Natl Acad Sci U S A. 1993;90:6839-43 pubmed..Amino acid sequence analysis of this protein revealed that it is a phosphoprotein or kinase that is associated with the rFKBP-52. ..
- Strayer D, Yang S, Jerng H. Surfactant protein A-binding proteins. Characterization and structures. J Biol Chem. 1993;268:18679-84 pubmed..Further structural, functional, and genetic studies of these proteins may help explain how pulmonary surfactant secretion is regulated. ..
- Sahu A, Kay B, Lambris J. Inhibition of human complement by a C3-binding peptide isolated from a phage-displayed random peptide library. J Immunol. 1996;157:884-91 pubmed..These results indicate that the peptide we have identified interacts with C3 to inhibit its activation. ..
- Steele R, Opella S. Structures of the reduced and mercury-bound forms of MerP, the periplasmic protein from the bacterial mercury detoxification system. Biochemistry. 1997;36:6885-95 pubmed..The structure of the mercury-bound form of merP shows that Hg(II) is bicoordinate with the Cys side chain ligands, and this is confirmed by the chemical shift frequency of the 199Hg resonance. ..
- Jin J, Daniel J, Kunapuli S. Molecular basis for ADP-induced platelet activation. II. The P2Y1 receptor mediates ADP-induced intracellular calcium mobilization and shape change in platelets. J Biol Chem. 1998;273:2030-4 pubmed
- Jensen D, Belka G, Du Bois G. S-Nitrosoglutathione is a substrate for rat alcohol dehydrogenase class III isoenzyme. Biochem J. 1998;331 ( Pt 2):659-68 pubmed..Inclusion of GSH in the reaction mix decreases the yield of the supposed glutathione sulphinamide in favor of GSSG and hydroxylamine. ..
- Tu Z, Mooney S, Lee F. A subdomain of MEKK1 that is critical for binding to MKK4. Cell Signal. 2003;15:65-77 pubmed..Such mutations were also found to impair MEKK1delta-induced activation of an AP1 reporter gene. These studies point to a critical role for subdomain X in the interaction of MEKK1 with MKK4. ..
- Zhang M, Budak M, Lu W, Khurana T, Zhang X, Laties A, et al. Identification of the A3 adenosine receptor in rat retinal ganglion cells. Mol Vis. 2006;12:937-48 pubmed..Retinal ganglion cells express A3 adenosine receptor mRNA. Stimulation of this receptor can reduce the Ca2+ overload following excessive activation of P2X7 receptors. ..
- Covy J, Yuan W, Waxman E, Hurtig H, Van Deerlin V, Giasson B. Clinical and pathological characteristics of patients with leucine-rich repeat kinase-2 mutations. Mov Disord. 2009;24:32-9 pubmed publisher..These findings extend the clinical and pathological features that may be associated with LRRK2 mutations. ..
- Vinocur J, Fesnak A, Liu Y, Charan D, Prak E. Violations of the 12/23 rule at the mouse immunoglobulin kappa locus, including V kappa-V kappa rearrangement. Mol Immunol. 2009;46:2183-9 pubmed publisher..A signal joint derived from the inversional rearrangement of two neighboring V kappas was also recovered. These data suggest that the V kappa-V kappa structures arise via RAG-mediated, intrachromosomal recombination. ..
- Zekavat G, Mozaffari R, Arias V, Rostami S, Badkerhanian A, Tenner A, et al. A novel CD93 polymorphism in non-obese diabetic (NOD) and NZB/W F1 mice is linked to a CD4+ iNKT cell deficient state. Immunogenetics. 2010;62:397-407 pubmed publisher..These data suggest that Cd93 may be an autoimmune susceptibility gene residing within the Idd13 locus, which plays a role in regulating absolute numbers of CD4(+) NKT cells. ..
- Feng D, Liu T, Sun Z, Bugge A, Mullican S, Alenghat T, et al. A circadian rhythm orchestrated by histone deacetylase 3 controls hepatic lipid metabolism. Science. 2011;331:1315-9 pubmed publisher..Thus, genomic recruitment of HDAC3 by Rev-erb? directs a circadian rhythm of histone acetylation and gene expression required for normal hepatic lipid homeostasis. ..