Experts and Doctors on dna in Dallas, Texas, United States

Summary

Locale: Dallas, Texas, United States
Topic: dna

Top Publications

  1. Pierce D, Jordan E, Breen G. Structural organization of a nuclear gene for the alpha-subunit of the bovine mitochondrial ATP synthase complex. Biochim Biophys Acta. 1992;1132:265-75 pubmed
    ..These include Mt1, Mt3, Mt4, a respiratory enhancer, and NRF-2 sites. Tissue-specific differences in the ATPA1 mRNA levels were observed with high levels found in skeletal muscle and heart, and lower levels in other tissues. ..
  2. Jenkins E, Hsieh C, Milatovich A, Normington K, Berman D, Francke U, et al. Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue. Genomics. 1991;11:1102-12 pubmed
    ..In the mouse, a single steroid 5 alpha-reductase gene (Srd5 alpha-1) is linked to Xmv-13 on chromosome 13. ..
  3. Lorence M, Naville D, Graham Lorence S, Mack S, Murry B, Trant J, et al. 3 beta-hydroxysteroid dehydrogenase/delta 5----4-isomerase expression in rat and characterization of the testis isoform. Mol Cell Endocrinol. 1991;80:21-31 pubmed
    ..We conclude that while one gene product is highly expressed in testicular Leydig cells, and probably adrenal and ovary, accounting for their 3 beta-HSD content, a 3 beta-HSD is also expressed in liver in a sex-specific manner. ..
  4. Archer B, Ozcelik T, Jahn R, Francke U, Sudhof T. Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2. J Biol Chem. 1990;265:17267-73 pubmed
    ..A PstI restriction fragment length polymorphism was identified at the SYB2 locus. ..
  5. Dariush N, Fisher C, Cox R, Chuang D. Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex. FEBS Lett. 1991;284:34-8 pubmed
    ..The information on the gene structure for the entire mature E1 alpha subunit will facilitate investigations into the molecular basis of MSUD involving this subunit. ..
  6. Sudhof T. The structure of the human synapsin I gene and protein. J Biol Chem. 1990;265:7849-52 pubmed
    ..Domain C, the central homologous domain implicated in the binding of synapsin I to actin and to synaptic vesicles, is divided into nine exons. ..
  7. Osborne Lawrence S, Sinclair A, Hicks R, Lacey S, Eddy R, Byers M, et al. Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene. Genomics. 1990;8:562-7 pubmed
    ..These results indicate that there has been strong evolutionary pressure against changes in the coding and 3' untranslated regions of the gene encoding cartilage link protein. ..
  8. Wright W, Sassoon D, Lin V. Myogenin, a factor regulating myogenesis, has a domain homologous to MyoD. Cell. 1989;56:607-17 pubmed
    ..Myogenin and MyoD thus form part of a gene family regulating myogenesis, and together with myd may constitute a set of factors that interact to regulate the determination and differentiation of muscle cells. ..
  9. Yang R, Fülle H, Garbers D. Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. Genomics. 1996;31:367-72 pubmed
    ..No apparent disease loci have been yet linked to the locations of the GC-D or GC-F genes. ..

More Information

Publications107 found, 100 shown here

  1. Nirula A, Moore D, Gaynor R. Constitutive binding of the transcription factor interleukin-2 (IL-2) enhancer binding factor to the IL-2 promoter. J Biol Chem. 1997;272:7736-45 pubmed
    ..These results suggest that important regulatory sequences in the IL-2 promoter are bound by ILF and that this binding may be involved in the control of IL-2 gene expression. ..
  2. Clouthier D, Comerford S, Hammer R. Hepatic fibrosis, glomerulosclerosis, and a lipodystrophy-like syndrome in PEPCK-TGF-beta1 transgenic mice. J Clin Invest. 1997;100:2697-713 pubmed
    ..These studies strengthen the link between TGF-beta1 expression and fibrotic disease, and demonstrate the potency of TGF-beta1 in modulating mesenchymal cell differentiation in vivo. ..
  3. Schuppin G, Pons S, Hugl S, Aiello L, King G, White M, et al. A specific increased expression of insulin receptor substrate 2 in pancreatic beta-cell lines is involved in mediating serum-stimulated beta-cell growth. Diabetes. 1998;47:1074-85 pubmed
    ..It is conceivable that IRS-2 expression in beta-cells contributes to maintaining the islet beta-cell population, complementary to observations in the IRS-2 knockout mouse in which beta-cell mass is markedly reduced. ..
  4. Yang B, Ding J, Zhou C, Dimachkie M, Sweetman L, Dasouki M, et al. Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2000;69:259-62 pubmed
    ..Sequence analysis revealed a novel mutation G617T in exon 8 resulting in an arginine to leucine substitution at codon 206 (R206L). Both patients were compound heterozygous for this G617T and the common mutation A985G. ..
  5. Gupta M, Geller D, Auchus R. Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. J Clin Endocrinol Metab. 2001;86:4416-23 pubmed
    ..Mutations R347H and R358Q are the only two such mutations found in humans proven to cause isolated 17,20-lyase deficiency. ..
  6. Garg V, Kathiriya I, Barnes R, Schluterman M, King I, Butler C, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature. 2003;424:443-7 pubmed
    ..These results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5. ..
  7. Chai W, Shay J, Wright W. Human telomeres maintain their overhang length at senescence. Mol Cell Biol. 2005;25:2158-68 pubmed
    ..We thus conclude that a global reduction in overhang length is not the molecular signal that triggers replicative senescence. ..
  8. Rivera Cancel G, Motta Mena L, Gardner K. Identification of natural and artificial DNA substrates for light-activated LOV-HTH transcription factor EL222. Biochemistry. 2012;51:10024-34 pubmed publisher
    ..Taken together, these results shed light on the native function of EL222 and provide useful reagents for further basic and applications research of this versatile protein. ..
  9. Kim J, Hu Z, Cai L, Li K, Choi E, Faubert B, et al. CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells. Nature. 2017;546:168-172 pubmed publisher
    ..The data indicate that the KL oncological genotype imposes a metabolic vulnerability related to a dependence on a cross-compartmental pathway of pyrimidine metabolism in an aggressive subset of NSCLC. ..
  10. Thigpen A, Davis D, Gautier T, Imperato McGinley J, Russell D. Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. N Engl J Med. 1992;327:1216-9 pubmed
  11. Rudling M. Hepatic mRNA levels for the LDL receptor and HMG-CoA reductase show coordinate regulation in vivo. J Lipid Res. 1992;33:493-501 pubmed
    ..The results show that the mRNA levels for the LDLr and HMG-CoA reductase are regulated in parallel in the liver in vivo during various metabolic perturbations as well as at normal physiologic conditions.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  12. Fisher C, Chuang J, Cox R, Fisher C, Star R, Chuang D. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. J Clin Invest. 1991;88:1034-7 pubmed
    ..Moreover, this mutation impedes the assembly of E1 alpha with E1 beta into a stable alpha 2 beta 2 structure, resulting in the degradation of the free E1 beta subunit. ..
  13. Conley A, Graham Lorence S, Kagimoto M, Lorence M, Murry B, Oka K, et al. Nucleotide sequence of a cDNA encoding porcine testis 17 alpha-hydroxylase cytochrome P-450. Biochim Biophys Acta. 1992;1130:75-7 pubmed
    ..We describe the isolation and characterization of a cDNA encoding the complete porcine neonatal testis 17 alpha-hydroxylase/C-17,20-lyase cytochrome P-450. The deduced amino acid sequence is 509 amino acids in length. ..
  14. Dawson P, Ridgway N, Slaughter C, Brown M, Goldstein J. cDNA cloning and expression of oxysterol-binding protein, an oligomer with a potential leucine zipper. J Biol Chem. 1989;264:16798-803 pubmed
    ..The availability of an expressible cDNA for the oxysterol-binding protein should help elucidate its role in sterol metabolism. ..
  15. Hersh L, Takane K, Gylys K, Moomaw C, Slaughter C. Conservation of amino acid sequences between human and porcine choline acetyltransferase. J Neurochem. 1988;51:1843-5 pubmed
    ..These findings demonstrate strong sequence similarity between porcine and human choline acetyltransferase and indicate that they are closely related evolutionarily. ..
  16. Kuziel W, Kienker L, Tucker P. Physical linkage of mouse Tcrg-V genes. I. Evolutionary and regulatory features of the Vg1.1-Vg1.2 intergenic region. Immunogenetics. 1994;39:296-7 pubmed
  17. Davletov B, Sontag J, Hata Y, Petrenko A, Fykse E, Jahn R, et al. Phosphorylation of synaptotagmin I by casein kinase II. J Biol Chem. 1993;268:6816-22 pubmed
    ..Our data demonstrate that synaptotagmin I is an efficient substrate for casein kinase II at a conserved site with a possible modulatory role in nerve terminal function. ..
  18. Moghrabi N, Hughes I, Dunaif A, Andersson S. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metab. 1998;83:2855-60 pubmed
    ..The current findings boost to 16 the number of mutations in the HSD17B3 gene that impair testosterone synthesis and cause male pseudohermaphroditism, and add 1 apparently silent polymorphism to this tally. ..
  19. Antos C, McKinsey T, Dreitz M, Hollingsworth L, Zhang C, Schreiber K, et al. Dose-dependent blockade to cardiomyocyte hypertrophy by histone deacetylase inhibitors. J Biol Chem. 2003;278:28930-7 pubmed
    ..HDAC inhibitors are currently being tested in clinical trials as anti-cancer agents. Our results suggest that these inhibitors may also hold promising clinical value as therapeutics for cardiac hypertrophy and heart failure. ..
  20. Mathian A, Weinberg A, Gallegos M, Banchereau J, Koutouzov S. IFN-alpha induces early lethal lupus in preautoimmune (New Zealand Black x New Zealand White) F1 but not in BALB/c mice. J Immunol. 2005;174:2499-506 pubmed
    ..NZB x NZW)F(1) infused with purified murine IFN-alpha also showed acceleration of lupus. Thus, prolonged expression of IFN-alpha in vivo induces early lethal lupus in susceptible animals...
  21. Condon J, Hardy D, Kovaric K, Mendelson C. Up-regulation of the progesterone receptor (PR)-C isoform in laboring myometrium by activation of nuclear factor-kappaB may contribute to the onset of labor through inhibition of PR function. Mol Endocrinol. 2006;20:764-75 pubmed
  22. Uematsu N, Weterings E, Yano K, Morotomi Yano K, Jakob B, Taucher Scholz G, et al. Autophosphorylation of DNA-PKCS regulates its dynamics at DNA double-strand breaks. J Cell Biol. 2007;177:219-29 pubmed
    ..We suggest a model in which DNA-PK(CS) phosphorylation/autophosphorylation facilitates NHEJ by destabilizing the interaction of DNA-PK(CS) with the DNA ends. ..
  23. Yano K, Morotomi Yano K, Wang S, Uematsu N, Lee K, Asaithamby A, et al. Ku recruits XLF to DNA double-strand breaks. EMBO Rep. 2008;9:91-6 pubmed
    ..Our observations showed the direct involvement of XLF in the dynamic assembly of the NHEJ machinery and provide mechanistic insights into DSB recognition. ..
  24. Liu Z, Kraus W. Catalytic-Independent Functions of PARP-1 Determine Sox2 Pioneer Activity at Intractable Genomic Loci. Mol Cell. 2017;65:589-603.e9 pubmed publisher
    ..The conditional pioneer activity observed with Sox2 at a subset of binding sites may be a key feature of other pioneer TFs operating at intractable genomic loci. ..
  25. Kamibayashi C, Lickteig R, Estes R, Walter G, Mumby M. Expression of the A subunit of protein phosphatase 2A and characterization of its interactions with the catalytic and regulatory subunits. J Biol Chem. 1992;267:21864-72 pubmed
    ..These results suggest that each of the three subunits of protein phosphatase 2A forms direct contacts with both of the others. ..
  26. Cali J, Hsieh C, Francke U, Russell D. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991;266:7779-83 pubmed
    ..These findings underscore the essential role played by sterols in the central nervous system and suggest that mutations in other sterol metabolizing enzymes may contribute to diseases with neurological manifestations. ..
  27. Mumby S, Heukeroth R, Gordon J, Gilman A. G-protein alpha-subunit expression, myristoylation, and membrane association in COS cells. Proc Natl Acad Sci U S A. 1990;87:728-32 pubmed
    ..The results are consistent with a model wherein the hydrophobic interaction of myristate with the bilayer permits continued association of the protein with the plasma membrane when G-protein alpha subunits dissociate from beta gamma. ..
  28. Jelinek D, Andersson S, Slaughter C, Russell D. Cloning and regulation of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis. J Biol Chem. 1990;265:8190-7 pubmed
    ..These results suggest that bile acids and sterols are able to alter the transcription of the 7 alpha-hydroxylase gene and that this control explains the previously observed feedback regulation of bile acid synthesis. ..
  29. Perin M, Fried V, Slaughter C, Sudhof T. The structure of cytochrome b561, a secretory vesicle-specific electron transport protein. EMBO J. 1988;7:2697-703 pubmed
    ..This result agrees well with the putative function of this unique cytochrome and with the notion that this protein is localized to large dense-core synaptic vesicles. ..
  30. Sudhof T, Slaughter C, Leznicki I, Barjon P, Reynolds G. Human 67-kDa calelectrin contains a duplication of four repeats found in 35-kDa lipocortins. Proc Natl Acad Sci U S A. 1988;85:664-8 pubmed
    ..These data place the calelectrins and the lipocortins into the same gene family and suggest that these proteins have similar functions and have evolved from a common ancestor. ..
  31. Wright W, Dac Korytko I, Farmer K. Monoclonal antimyogenin antibodies define epitopes outside the bHLH domain where binding interferes with protein-protein and protein-DNA interactions. Dev Genet. 1996;19:131-8 pubmed
    ..The binding of one antibody to its epitope did not appear to affect the myogenin/E12 interaction but nonetheless interfered with the binding of the complex to DNA, suggesting that this epitope lies near to a surface occupied by DNA. ..
  32. Liu L, Kwak Y, Bex F, García Martínez L, Li X, Meek K, et al. DNA-dependent protein kinase phosphorylation of IkappaB alpha and IkappaB beta regulates NF-kappaB DNA binding properties. Mol Cell Biol. 1998;18:4221-34 pubmed
    ..These results suggest that DNA-PK phosphorylation of IkappaB alpha increases its interaction with NF-kappaB to reduce NF-kappaB DNA binding properties. ..
  33. Rawson R, DeBose Boyd R, Goldstein J, Brown M. Failure to cleave sterol regulatory element-binding proteins (SREBPs) causes cholesterol auxotrophy in Chinese hamster ovary cells with genetic absence of SREBP cleavage-activating protein. J Biol Chem. 1999;274:28549-56 pubmed
    ..These results provide formal proof that SCAP is essential for the cleavage of SREBPs at site 1...
  34. Bruick R. Expression of the gene encoding the proapoptotic Nip3 protein is induced by hypoxia. Proc Natl Acad Sci U S A. 2000;97:9082-7 pubmed
    ..These observations indicate that Nip3 may play a dedicated role in the pathological progression of hypoxia-mediated apoptosis, as observed after ischemic injury. ..
  35. Ishii S, Iizuka K, Miller B, Uyeda K. Carbohydrate response element binding protein directly promotes lipogenic enzyme gene transcription. Proc Natl Acad Sci U S A. 2004;101:15597-602 pubmed
    ..In vivo binding of ChREBP to ACC, FAS, and LPK gene promoters in intact liver nuclei from rats fed a high-carbohydrate diet was demonstrated by using a formaldehyde crosslinking and chromatin immunoprecipitation procedure. ..
  36. Gao S, Wang Q, Huang L, Lum L, Chen C. Chemical and biological studies of nakiterpiosin and nakiterpiosinone. J Am Chem Soc. 2010;132:371-83 pubmed publisher
    ..Nakiterpiosin may be useful as an anticancer agent in those tumors resistant to existing antimitotic agents and those dependent on Hedgehog pathway responses for growth. ..
  37. Lin S, Morrison Bogorad M. Cloning and characterization of a testis-specific thymosin beta 10 cDNA. Expression in post-meiotic male germ cells. J Biol Chem. 1991;266:23347-53 pubmed
    ..Immunohistochemical analysis showed that the protein was present in differentiating spermatids, suggesting that the testis-specific thymosin beta 10 mRNA is translated in haploid male germ cells. ..
  38. Woeltje K, Esser V, Weis B, Sen A, Cox W, McPhaul M, et al. Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II. J Biol Chem. 1990;265:10720-5 pubmed
    ..The predicted amino acid sequence of CPT II shows strong identity with those of two other acyltransferases, namely, rat liver peroxisomal carnitine octanoyltransferase and porcine choline acetyltransferase. ..
  39. Armstrong S, Seabra M, Sudhof T, Goldstein J, Brown M. cDNA cloning and expression of the alpha and beta subunits of rat Rab geranylgeranyl transferase. J Biol Chem. 1993;268:12221-9 pubmed
    ..Comparisons of the amino acid sequences suggest that the proteins encoded by the Saccharomyces cerevisiae genes MAD2 and BET2 are the yeast counterparts of the mammalian Rab GG transferase alpha and beta subunits, respectively. ..
  40. Agarwal A, Garg A. A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab. 2002;87:408-11 pubmed
    ..None of the four unaffected family members harbored the mutation. We conclude that heterozygous, R425C, mutation in PPARG could be the molecular basis for one of the familial partial lipodystrophy phenotypes. ..
  41. Liu K, Li Q, Delgado Vega A, Abelson A, Sanchez E, Kelly J, et al. Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans. J Clin Invest. 2009;119:911-23 pubmed publisher
    ..Collectively, these studies suggest that kallikreins are protective disease-associated genes in anti-GBM antibody-induced nephritis and lupus. ..
  42. Lambracht Washington D, Qu B, Fu M, Anderson L, Stuve O, Eagar T, et al. DNA immunization against amyloid beta 42 has high potential as safe therapy for Alzheimer's disease as it diminishes antigen-specific Th1 and Th17 cell proliferation. Cell Mol Neurobiol. 2011;31:867-74 pubmed publisher
    ..Therefore, A?42 DNA trimer immunization has a high probability to be effective and safe to treat patients with early AD. ..
  43. Fisher C, Fisher C, Chuang D, Cox R. Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population. Am J Hum Genet. 1991;49:429-34 pubmed
    ..The identification of the MSUD mutation in the Philadelphia Mennonites will facilitate diagnosis and carrier detection for this population. ..
  44. Andersson S, Russell D. Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases. Proc Natl Acad Sci U S A. 1990;87:3640-4 pubmed
    ..However, synthetic 4-azasteroids demonstrated marked differences in their abilities to inhibit the human and rat steroid 5 alpha-reductases. ..
  45. Andersson S, Bishop R, Russell D. Expression cloning and regulation of steroid 5 alpha-reductase, an enzyme essential for male sexual differentiation. J Biol Chem. 1989;264:16249-55 pubmed
    ..The data suggest that the steroid 5 alpha-reductase gene is differentially regulated by testosterone in androgen-responsive versus non-responsive tissues. ..
  46. Henderson S, Xu Y, Chien K. Nucleotide sequence of full length cDNAs encoding rat cardiac myosin light chain-2. Nucleic Acids Res. 1988;16:4722 pubmed
  47. Wang C, Lindahl K. Organization and structure of the H-2M4-M8 class I genes in the mouse major histocompatibility complex. Immunogenetics. 1993;38:258-71 pubmed
    ..These genes provide probes for studying the evolution of class I genes in rodents and for the mapping and cloning of genes at the end of the distal inversion in t haplotype chromosomes. ..
  48. Leber R, Wise T, Mizuta R, Meek K. The XRCC4 gene product is a target for and interacts with the DNA-dependent protein kinase. J Biol Chem. 1998;273:1794-801 pubmed
    ..These data are consistent with the hypothesis that XRCC4 functions as an alignment factor in the DNA-PK complex. ..
  49. Barker S, Wang J, Sierra D, Ross E. RGSZ1 and Ret RGS: two of several splice variants from the gene RGS20. Genomics. 2001;78:223-9 pubmed
    ..At least two mRNAs that include the exon that encodes the N-terminal region unique to RGSZ1 were found in brain and a few other tissues, but not retina. RGS20 thus can account for multiple G(z)-selective GAPs in different tissues. ..
  50. Widlak P, Kalinowska M, Parseghian M, Lu X, Hansen J, Garrard W. The histone H1 C-terminal domain binds to the apoptotic nuclease, DNA fragmentation factor (DFF40/CAD) and stimulates DNA cleavage. Biochemistry. 2005;44:7871-8 pubmed
    ..We conclude that the interactions identified here between the histone H1 CTD and DFF40/CAD target and activate linker DNA cleavage during the terminal stages of apoptosis. ..
  51. Liu Y, Li L, Kumar K, Xie C, Lightfoot S, Zhou X, et al. Lupus susceptibility genes may breach tolerance to DNA by impairing receptor editing of nuclear antigen-reactive B cells. J Immunol. 2007;179:1340-52 pubmed
    ..Taken together with a recent report on Sle1(z), these studies suggest that dysregulated receptor-editing of nuclear Ag-reactive B cells may be a major mechanism through which antinuclear Abs arise in lupus. ..
  52. Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, et al. Identification and functional analysis of two novel PAX9 mutations. Cells Tissues Organs. 2009;189:80-7 pubmed publisher
    ..Our finding that the severity of tooth agenesis in the patients was correlated to the DNA-binding capacity of the mutated PAX9 9proteins supports the hypothesis that DNA binding is responsible for the genetic defect. ..
  53. Sun L, Wu J, Du F, Chen X, Chen Z. Cyclic GMP-AMP synthase is a cytosolic DNA sensor that activates the type I interferon pathway. Science. 2013;339:786-91 pubmed publisher
    ..cGAS bound to DNA in the cytoplasm and catalyzed cGAMP synthesis. These results indicate that cGAS is a cytosolic DNA sensor that induces interferons by producing the second messenger cGAMP...
  54. Lau K, Herring W, Chuang J, McKean M, Danner D, Cox R, et al. Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene. J Biol Chem. 1992;267:24090-6 pubmed
    ..However, the E2 pseudogene contains multiple base changes, deletions, and insertions, and is flanked by short direct repeats. The data indicate that the E2 pseudogene is a retroposon. ..
  55. Chen Q, Boggaram V, Mendelson C. Rabbit lung surfactant protein A gene: identification of a lung-specific DNase I hypersensitive site. Am J Physiol. 1992;262:L662-71 pubmed
    ..The presence of this tissue-specific DNase I hypersensitive site in lung nuclei from 21-day gestational age fetal rabbits suggests that the SP-A gene may exist in an accessible conformation prior to the time of transcription initiation...
  56. DeMartino G, Orth K, McCullough M, Lee L, Munn T, Moomaw C, et al. The primary structures of four subunits of the human, high-molecular-weight proteinase, macropain (proteasome), are distinct but homologous. Biochim Biophys Acta. 1991;1079:29-38 pubmed
  57. Brady J, MacDonald R. The expression of two kallikrein gene family members in the rat kidney. Arch Biochem Biophys. 1990;278:342-9 pubmed
    ..In the submaxillary gland the K1 mRNA is expressed at roughly one-fourth the level of true kallikrein mRNA. ..
  58. Imai T, Globerman H, Gertner J, Kagawa N, Waterman M. Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Biol Chem. 1993;268:19681-9 pubmed
    ..Upon expression of these mutant proteins in E. coli, the Tyr64 mutant has 15% of the wild type 17 alpha-hydroxylase activity, whereas the Ile112 duplication shows no activity, results consistent with the observed clinical phenotype. ..
  59. Opperman L, Adab K, Gakunga P. Transforming growth factor-beta 2 and TGF-beta 3 regulate fetal rat cranial suture morphogenesis by regulating rates of cell proliferation and apoptosis. Dev Dyn. 2000;219:237-47 pubmed
    ..Furthermore, a complex interplay between closely related molecules is required to maintain cranial vault sutures in an unossified state, while allowing new bone to be formed at the edges of the bone fronts. ..
  60. Sathyanarayana U, Padar A, Huang C, Suzuki M, Shigematsu H, Bekele B, et al. Aberrant promoter methylation and silencing of laminin-5-encoding genes in breast carcinoma. Clin Cancer Res. 2003;9:6389-94 pubmed
    ..Our findings are of biological interest and potentially of clinical importance. ..
  61. Ramnarain D, Paulmurugan R, Park S, Mickey B, Asaithamby A, Saha D, et al. RIP1 links inflammatory and growth factor signaling pathways by regulating expression of the EGFR. Cell Death Differ. 2008;15:344-53 pubmed
    ..Thus, our study identifies a new link between inflammatory and growth factor signaling pathways mediated by RIP1 and provides insight into the mechanism used by RIP1 to regulate EGFR levels. ..
  62. Huang G, Chen S, Li S, Cha J, Long C, Li L, et al. Protein kinase A and casein kinases mediate sequential phosphorylation events in the circadian negative feedback loop. Genes Dev. 2007;21:3283-95 pubmed
    ..Thus, PKA is a key clock component that regulates several critical processes in the circadian negative feedback loop. ..
  63. Sun J, Lee K, Davis A, Chen D. Human Ku70/80 protein blocks exonuclease 1-mediated DNA resection in the presence of human Mre11 or Mre11/Rad50 protein complex. J Biol Chem. 2012;287:4936-45 pubmed publisher
    ..Our in vitro studies show that Ku can block DNA resection and suggest that Ku must be actively displaced for DNA end processing to occur and is more complicated than the competition model established in yeast. ..
  64. Levanon D, Hsieh C, Francke U, Dawson P, Ridgway N, Brown M, et al. cDNA cloning of human oxysterol-binding protein and localization of the gene to human chromosome 11 and mouse chromosome 19. Genomics. 1990;7:65-74 pubmed
    ..Along with previously mapped genes including Ly-1 and CD20, OSBP defines a new conserved syntenic group on the long arm of chromosome 11 in the human and the proximal end of chromosome 19 in the mouse. ..
  65. Sakata J, Uyeda K. Bovine heart fructose-6-phosphate 2-kinase/fructose-2,6-bisphosphatase: complete amino acid sequence and localization of phosphorylation sites. Proc Natl Acad Sci U S A. 1990;87:4951-5 pubmed
    ..These opposite locations of the phosphorylation sites may explain the contrasting effect of the covalent modification on the enzymes' activities. ..
  66. Gao E, Alcorn J, Mendelson C. Identification of enhancers in the 5'-flanking region of the rabbit surfactant protein A (SP-A) gene and characterization of their binding proteins. J Biol Chem. 1993;268:19697-709 pubmed
    ..These findings suggest that the DBE and PBE act as enhancers that interact with the same or related trans-acting proteins and serve an important role in type II cell-specific, cyclic AMP-mediated regulation of SP-A gene expression. ..
  67. Kayes Wandover K, White P. Steroidogenic enzyme gene expression in the human heart. J Clin Endocrinol Metab. 2000;85:2519-25 pubmed
    ..1% those in the adrenal gland. These findings are consistent with autocrine or paracrine roles for corticosterone and deoxycorticosterone, but not cortisol or aldosterone, in the normal adult human heart. ..
  68. Craft C, Lolley R, Seldin M, Lee R. Rat pineal gland phosducin: cDNA isolation, nucleotide sequence, and chromosomal assignment in the mouse. Genomics. 1991;10:400-9 pubmed
    ..In keeping with a proposed role of retinal phosducin in down-regulation of the photo-transduction cascade, a modulatory role in signal transduction is proposed for pineal phosducin. ..
  69. Word C, White M, Kuziel W, Shen A, Blattner F, Tucker P. The human immunoglobulin C mu-C delta locus: complete nucleotide sequence and structural analysis. Int Immunol. 1989;1:296-309 pubmed
    ..Several polymorphisms in the human population have been identified in the intergenic region and in C delta but not in C mu. ..
  70. Hofmann S, Goldstein J, Orth K, Moomaw C, Slaughter C, Brown M. Molecular cloning of a histidine-rich Ca2+-binding protein of sarcoplasmic reticulum that contains highly conserved repeated elements. J Biol Chem. 1989;264:18083-90 pubmed
    ..We suggest that the histidine-rich Ca2+-binding protein described in the current study be designated HCP. The role of HCP in Ca2+ homeostasis in the sarcoplasmic reticulum of skeletal and cardiac muscle remains to be determined. ..
  71. Reed S, You Z, Friedberg E. The yeast RAD7 and RAD16 genes are required for postincision events during nucleotide excision repair. In vitro and in vivo studies with rad7 and rad16 mutants and purification of a Rad7/Rad16-containing protein complex. J Biol Chem. 1998;273:29481-8 pubmed
    ..We conclude that the products of the RAD7 and RAD16 genes are involved in a postincision event(s) during NER in yeast. ..
  72. Xie Y, Denison C, Yang S, Fancy D, Kodadek T. Biochemical characterization of the TATA-binding protein-Gal4 activation domain complex. J Biol Chem. 2000;275:31914-20 pubmed
    ..The kinetics of the formation and dissociation of the AAD(2)-TBP complex is also probed. The impact of these findings on models for Gal4-mediated transcriptional activation is considered. ..
  73. Rutter J, Reick M, Wu L, McKnight S. Regulation of clock and NPAS2 DNA binding by the redox state of NAD cofactors. Science. 2001;293:510-4 pubmed
    ..These observations raise the possibility that food, neuronal activity, or both may entrain the circadian clock by direct modulation of cellular redox state. ..
  74. Kawaguchi T, Takenoshita M, Kabashima T, Uyeda K. Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein. Proc Natl Acad Sci U S A. 2001;98:13710-5 pubmed
    ..These results thus reveal mechanisms for regulation of ChREBP and the L-PK transcription by excess carbohydrate and cAMP. ..
  75. Fischhaber P, Gerlach V, Feaver W, Hatahet Z, Wallace S, Friedberg E. Human DNA polymerase kappa bypasses and extends beyond thymine glycols during translesion synthesis in vitro, preferentially incorporating correct nucleotides. J Biol Chem. 2002;277:37604-11 pubmed
    ..Our findings suggest a role for polkappa in both nonmutagenic and mutagenic bypass of oxidative damage. ..
  76. Tamura N, Garbers D. Regulation of the guanylyl cyclase-B receptor by alternative splicing. J Biol Chem. 2003;278:48880-9 pubmed
    ..Thus, GC-B isoform levels can be independently regulated. Given that the splice variants serve as dominant negative forms, these will serve as regulators of the full-length GC-B. ..
  77. Ahlgren R, Yanase T, Simpson E, Winter J, Waterman M. Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. 1992;74:667-72 pubmed
    ..The presence of ambiguous external genitalia in this 46 XY individual indicates that greater than 20% of the total normal 17,20-lyase activity is required for complete virilization in the male. ..
  78. Perin M, Johnston P, Ozcelik T, Jahn R, Francke U, Sudhof T. Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. J Biol Chem. 1991;266:615-22 pubmed
    ..The human gene for synaptotagmin was mapped by Southern blot analysis of DNA from somatic cell hybrids to chromosome 12 region cen-q21, and the Drosophila gene by in situ hybridization to 23B. ..
  79. McCauliffe D, Zappi E, Lieu T, Michalak M, Sontheimer R, Capra J. A human Ro/SS-A autoantigen is the homologue of calreticulin and is highly homologous with onchocercal RAL-1 antigen and an aplysia "memory molecule". J Clin Invest. 1990;86:332-5 pubmed
    ..These homologies suggest that this Ro protein has a very basic cellular function(s) which may in part involve calcium binding. ..
  80. Hersh L, Kong C, Sampson C, Mues G, Li Y, Fisher A, et al. Comparison of the promoter region of the human and porcine choline acetyltransferase genes: localization of an important enhancer region. J Neurochem. 1993;61:306-14 pubmed
    ..Analysis of the promoter region of the two genes has led to the localization of an enhancer element that appears necessary for efficient transcription of the gene. ..
  81. Janowski B, Huffman K, Schwartz J, Ram R, Nordsell R, Shames D, et al. Involvement of AGO1 and AGO2 in mammalian transcriptional silencing. Nat Struct Mol Biol. 2006;13:787-92 pubmed
    ..Our data indicate key linkages and important mechanistic distinctions between transcriptional and post-transcriptional silencing pathways in mammalian cells. ..
  82. Masui T, Long Q, Beres T, Magnuson M, Macdonald R. Early pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complex. Genes Dev. 2007;21:2629-43 pubmed
    ..Action within an organ-specific transcription factor is a previously unknown function for RBPJ and is independent of its role in Notch signaling. ..
  83. Liu N, Barbosa A, Chapman S, Bezprozvannaya S, Qi X, Richardson J, et al. DNA binding-dependent and -independent functions of the Hand2 transcription factor during mouse embryogenesis. Development. 2009;136:933-42 pubmed publisher
    ..These findings suggest that Hand2 regulates tissue growth and development in vivo through DNA binding-dependent and -independent mechanisms. ..
  84. Zheng W, Horton C, Kim J, Halvorson L. The orphan nuclear receptors COUP-TFI and COUP-TFII regulate expression of the gonadotropin LH? gene. Mol Cell Endocrinol. 2010;330:59-71 pubmed publisher
    ..To our knowledge, these data are the first to demonstrate COUP-TF expression and function in pituitary gonadotropes. ..
  85. Tanaka Y, Chen Z. STING specifies IRF3 phosphorylation by TBK1 in the cytosolic DNA signaling pathway. Sci Signal. 2012;5:ra20 pubmed publisher
    ..This scaffolding function of STING (and possibly of other adaptor proteins) may explain why IRF3 is activated in only a subset of signaling pathways that activate TBK1. ..
  86. Zhang X, Shi H, Wu J, Zhang X, Sun L, Chen C, et al. Cyclic GMP-AMP containing mixed phosphodiester linkages is an endogenous high-affinity ligand for STING. Mol Cell. 2013;51:226-35 pubmed publisher
    ..The crystal structure of STING bound to 2'3'-cGAMP revealed the structural basis of this high-affinity binding and a ligand-induced conformational change in STING that may underlie its activation. ..
  87. Chen W, Andres D, Goldstein J, Russell D, Brown M. cDNA cloning and expression of the peptide-binding beta subunit of rat p21ras farnesyltransferase, the counterpart of yeast DPR1/RAM1. Cell. 1991;66:327-34 pubmed
    ..The rat beta subunit shows 37% sequence identity with the protein encoded by the yeast DPR1/RAM1 gene, indicating that DPR1/RAM1 is the yeast counterpart of the peptide-binding subunit of the mammalian farnesyltransferase. ..
  88. Hofmann S, Topham M, Hsieh C, Francke U. cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. Genomics. 1991;9:656-69 pubmed
    ..Of particular interest is an Alu-associated poly-d(GA) sequence located in an intron in the middle of the gene, and two stretches of acidic amino acids in the coding region of exon 1 that vary in length among different individuals. ..
  89. Tsuchiya Y, Uyeda K. Bovine heart fructose 6-P,2-kinase:fructose 2,6-bisphosphatase mRNA and gene structure. Arch Biochem Biophys. 1994;310:467-74 pubmed
    ..Exon 16 (also unique), 1820 bp long and located 7 kb downstream of exon 15, encodes the short C-terminus of the enzyme and is completely different from that of the rat heart bifunctional enzyme gene. ..
  90. Soyombo A, Yi W, Hofmann S. Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3. Genomics. 1999;56:208-16 pubmed
    ..These polymorphisms (and a microsatellite discovered within PPT2) will aid in the further delineation of the possible role of PPT2 in lysosomal storage disorders of unknown etiology. ..
  91. Edwards A, Donoso L, Ritter R. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest Ophthalmol Vis Sci. 2001;42:2652-63 pubmed
    ..The PCR-based assay for the 5-bp deletion will facilitate more accurate genetic counseling and identification of other branches of the family. ..
  92. Thigpen A, Russell D. Four-amino acid segment in steroid 5 alpha-reductase 1 confers sensitivity to finasteride, a competitive inhibitor. J Biol Chem. 1992;267:8577-83 pubmed
    ..Finasteride was a competitive inhibitor of the native and all chimeric enzymes tested, suggesting that the tetrapeptide segments form a portion of the substrate-binding domain of steroid 5 alpha-reductase. ..