Genomes and Genes
Experts and Doctors on genes in Philadelphia, Pennsylvania, United States
Locale: Philadelphia, Pennsylvania, United States
- Kumar A, Reddy E. Genomic organization and characterization of the promoter region of murine GSTM2 gene. Gene. 2001;270:221-9 pubmed..Deletion of this SP1 site completely abrogated promoter activity. The promoter contained eight putative Myb responsive elements and its transcriptional activity was upregulated by t-Myb but not by c-Myb. ..
- Berry G, Mallee J, Kwon H, Rim J, Mulla W, Muenke M, et al. The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21. Genomics. 1995;25:507-13 pubmed..The potential consequences include perturbations in the cell membrane potential and tissue osmolyte levels. The SLC5A3 gene may play a role in the pathogenesis of Down syndrome. ..
- Chervoneva I, Li Y, Schulz S, Croker S, Wilson C, Waldman S, et al. Selection of optimal reference genes for normalization in quantitative RT-PCR. BMC Bioinformatics. 2010;11:253 pubmed publisher..This approach identifies gene subset(s) with smaller variability of normalizing factors than current standard approaches, particularly if there is some nontrivial innate correlation among the candidate genes. ..
- Lin E, Orlofsky A, Berger M, Prystowsky M. Characterization of A1, a novel hemopoietic-specific early-response gene with sequence similarity to bcl-2. J Immunol. 1993;151:1979-88 pubmed..These data demonstrate that A1 is a novel early-response gene whose expression is associated with a variety of stimuli and occurs in several hemopoietic cell types. ..
- Sosnoski D, Emanuel B, Hawkins A, Van Tuinen P, Ledbetter D, Nussbaum R, et al. Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. J Clin Invest. 1988;81:1993-8 pubmed
- Das R, Reddy E, Chatterjee D, Andrews D. Identification of a novel Bcl-2 related gene, BRAG-1, in human glioma. Oncogene. 1996;12:947-51 pubmed..Utilizing a bacterial expression vector, we produced BRAG-1 protein which was found to cross-react with a Bcl-2 monoclonal antibody, further suggesting structural and immunological similarity to Bcl-2. ..
- Song W, Deng C, Raszmann K, Moore R, Newbold R, McLachlan J, et al. Mouse decay-accelerating factor: selective and tissue-specific induction by estrogen of the gene encoding the glycosylphosphatidylinositol-anchored form. J Immunol. 1996;157:4166-72 pubmed
- Schoenhaut D, Curtis P. Structure of a mouse erythroid 5-aminolevulinate synthase gene and mapping of erythroid-specific DNAse I hypersensitive sites. Nucleic Acids Res. 1989;17:7013-28 pubmed..Thus, these sites are specific for erythroid chromatin but appear to be established at an earlier stage of differentiation than represented by the uninduced MEL cell. ..
- Moura Neto R, Dudov K, Perry R. An element downstream of the cap site is required for transcription of the gene encoding mouse ribosomal protein L32. Proc Natl Acad Sci U S A. 1989;86:3997-4001 pubmed..The contributions of some of these elements are apparently masked in the presence of simian virus 40 ori-region elements. ..
- Baldwin C, Constantinou C, Dumars K, Prockop D. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple he. J Biol Chem. 1989;264:3002-6 pubmed..Also, glycine 907 of the alpha 2(I) chain is an important component of a cooperative block that determines the melting temperature of the whole molecule. ..
- Luzi P, Rafi M, Wenger D. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics. 1995;26:407-9 pubmed..This information will be useful for studies to identify mutations causing low GALC activity in all patients with GLD and to identify the homologous gene in the important animal models. ..
- Kuivaniemi H, Prockop D, Wu Y, Madhatheri S, Kleinert C, Earley J, et al. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology. 1993;43:2652-8 pubmed..The results indicated that mutations in the gene for type III procollagen (COL3A1) are not a common cause of either intracranial artery aneurysms or cervical artery dissections. ..
- Martinez R, Venturelli D, Perrotti D, Veronese M, Kastury K, Druck T, et al. Gene structure, promoter activity, and chromosomal location of the DR-nm23 gene, a related member of the nm23 gene family. Cancer Res. 1997;57:1180-7 pubmed..Therefore, the regulation of the DR-nm23 gene expression might involve other mechanisms occurring at posttranscriptional and/or translational levels. ..
- Gaughan D, Barbaux S, Kluijtmans L, Whitehead A. The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene. Gene. 2000;257:279-89 pubmed..The multiple MTHFR mRNA species identified in this report may reflect an underlying complex set of gene regulatory mechanisms acting through an alternative transcription start site and/or polyadenylation signal sequence utilization. ..
- Satishchandran C, Hickman Y, Markham G. Characterization of the phosphorylated enzyme intermediate formed in the adenosine 5'-phosphosulfate kinase reaction. Biochemistry. 1992;31:11684-8 pubmed..We have identified a sequence beginning at residue 147 which may reflect a PAPS binding site. This sequence was identified in the carboxy terminal region of 10 reported sequences of proteins of PAPS metabolism. ..
- Kido S, Sakuragi N, Bronner M, Sayegh R, Berger R, Patterson D, et al. D21S418E identifies a cAMP-regulated gene located on chromosome 21q22.3 that is expressed in placental syncytiotrophoblast and choriocarcinoma cells. Genomics. 1993;17:256-9 pubmed..The mRNA was not detected in human brain, liver, lung, kidney, pancreas, heart, skeletal muscle, or myometrium. The D21S418E locus was assigned to a 3.5-Mb region of chromosome 21q22.3. ..
- Nakamura T, Alder H, Gu Y, Prasad R, Canaani O, Kamada N, et al. Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. Proc Natl Acad Sci U S A. 1993;90:4631-5 pubmed..Stretches abundant in basic amino acids are also present in the three proteins. These results suggest that the different proteins fused to ALL-1 polypeptide(s) provide similar functional domains. ..
- Tatarelli C, Linnenbach A, Mimori K, Croce C. Characterization of the human TESTIN gene localized in the FRA7G region at 7q31.2. Genomics. 2000;68:1-12 pubmed..Analysis of the TESTIN coding region in 26 tumor cell lines revealed three missense mutations. Our findings suggest that TESTIN may represent a candidate tumor suppressor gene at 7q31.2. ..
- Dorer D, Christensen A, Johnson D. A novel RNA helicase gene tightly linked to the Triplo-lethal locus of Drosophila. Nucleic Acids Res. 1990;18:5489-94 pubmed..Curiously, genetic analysis shows that the P element inserted into this gene is not responsible for the Tpl mutant phenotype. We present possible explanations for these findings. ..
- Thompson P, Gotoh T, Kok M, White P, Brodeur G. CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system. Oncogene. 2003;22:1002-11 pubmed..These findings suggest that this gene may play a role in the development of the nervous system, and it may also play a role in the pathogenesis of neural tumors. ..
- Hsu C, Frankel F. Conserved and unique sequences in the 3'-untranslated region of rat smooth-muscle alpha-actin mRNA. Gene. 1988;69:345-8 pubmed..An RNA probe containing only the 3'-UTR of the cDNA was synthesized and shown to be specific for smooth-muscle alpha-actin message. ..
- Zhang X, Rafi M, DeGala G, Wenger D. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. Proc Natl Acad Sci U S A. 1990;87:1426-30 pubmed..The presence of 11 additional amino acids in the coding region of mature SAP-1 in this patient causes significant changes in the hydropathy profile compatible with the previous findings at the protein level...
- Hoff H, Tresini M, Li S, Sell C. DBI-1, a novel gene related to the notch family, modulates mitogenic response to insulin-like growth factor 1. Exp Cell Res. 1998;238:359-70 pubmed..Overexpression of DBI-1 in cells which contain the wild-type IGF-1 receptor diminishes the mitogenic response to IGF-1. ..
- Ala Kokko L, Baldwin C, Moskowitz R, Prockop D. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci U S A. 1990;87:6565-8 pubmed..The mutation was found in all affected members of the family but not in unaffected members or in 57 unrelated individuals. ..
- Silberg D, Wang W, Moseley R, Traber P. The Down regulated in Adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein. J Biol Chem. 1995;270:11897-902 pubmed..This functional characterization provides the foundation for investigation of the role of Dra in intestinal sulfate transport and in the malignant phenotype. ..
- Hariharan N, Kelley D, Perry R. Delta, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein. Proc Natl Acad Sci U S A. 1991;88:9799-803 pubmed..Our structural modeling of this protein indicates properties that could endow it with exquisite functional versatility. ..
- Kim U, Wang Y, Sanford T, Zeng Y, Nishikura K. Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing. Proc Natl Acad Sci U S A. 1994;91:11457-61 pubmed..These structural properties are consistent with the enzymatic signature of DRADA, and strengthen the hypothesis that DRADA carries out the RNA editing of transcripts encoding glutamate-gated ion channels in brain. ..
- Porter S, Larue L, Mintz B. Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygous chinchilla-mottled mice. Dev Genet. 1991;12:393-402 pubmed
- Hotta H, Ross A, Huebner K, Isobe M, Wendeborn S, Chao M, et al. Molecular cloning and characterization of an antigen associated with early stages of melanoma tumor progression. Cancer Res. 1988;48:2955-62 pubmed..The ME491 gene has been mapped to chromosome region 12p12----12q13 by somatic cell hybrid analysis and more narrowly localized to 12q12----12q14 by in situ hybridization. ..
- Rader D, Maugeais C. Genes influencing HDL metabolism: new perspectives and implications for atherosclerosis prevention. Mol Med Today. 2000;6:170-5 pubmed..Here, we will discuss those components of the high density lipoprotein metabolism and lipid transport pathways that are potential preventative or therapeutic targets for ASCVD...
- Christiano A, Hoffman G, Chung Honet L, Lee S, Cheng W, Uitto J, et al. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics. 1994;21:169-79 pubmed..The COL7A1 promoter region is found to lack extensive homologies with promoter regions of other genes expressed primarily in skin. ..
- Berger M, Kozak C, Gabriel A, Prystowsky M. The gene for C10, a member of the beta-chemokine family, is located on mouse chromosome 11 and contains a novel second exon not found in other chemokines. DNA Cell Biol. 1993;12:839-47 pubmed
- Berry G, Mallee J, Blouin J, Antonarakis S. The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene. Cytogenet Cell Genet. 1996;73:77-8 pubmed..1 marker VN02, an expressed sequence tag (EST00541). Through DNA sequence analysis, it was determined that this STS marker if part of the 3' untranslated region of the SLC5A3 gene. ..
- Danoff T, Lalley P, Chang Y, Heeger P, Neilson E. Cloning, genomic organization, and chromosomal localization of the Scya5 gene encoding the murine chemokine RANTES. J Immunol. 1994;152:1182-9 pubmed
- Harlow P, Watkins E, Thornton R, Nemer M. Structure of an ectodermally expressed sea urchin metallothionein gene and characterization of its metal-responsive region. Mol Cell Biol. 1989;9:5445-55 pubmed
- Liu X, Karnell J, Yin B, Zhang R, Zhang J, Li P, et al. Distinct roles for PTEN in prevention of T cell lymphoma and autoimmunity in mice. J Clin Invest. 2010;120:2497-507 pubmed publisher..These data suggest multiple and distinct regulatory roles for PTEN in the molecular pathogenesis of lymphoma and autoimmunity. ..
- Brilliant M, King R, Francke U, Schuffenhauer S, Meitinger T, Gardner J, et al. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2. Pigment Cell Res. 1994;7:398-402 pubmed..Mutations in both homologues of the P gene of OCA2 patients who do not have PWS or AS have also been detected. ..
- Virgilio L, Narducci M, Isobe M, Billips L, Cooper M, Croce C, et al. Identification of the TCL1 gene involved in T-cell malignancies. Proc Natl Acad Sci U S A. 1994;91:12530-4 pubmed..The TCL1 gene sequence, which, to our knowledge, shows no sequence homology with other human genes, is preferentially expressed early in T- and B-lymphocyte differentiation. ..
- Sugawara T, Lin D, Holt J, Martin K, Javitt N, Miller W, et al. Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. Biochemistry. 1995;34:12506-12 pubmed
- Goldstein C, Liaw P, Jimenez S, Buchberg A, Siracusa L. Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. Mamm Genome. 1994;5:696-700 pubmed..Fbn2 maps near three mutations [bouncy (bc), plucked (pk), and shaker with syndactyly (sy)] and may be a candidate for the pk mutation. ..
- MacArthur D, Manolio T, Dimmock D, Rehm H, Shendure J, Abecasis G, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508:469-76 pubmed publisher..We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development. ..
- Chang L, Kessler D. Foxd3 is an essential Nodal-dependent regulator of zebrafish dorsal mesoderm development. Dev Biol. 2010;342:39-50 pubmed publisher..These results demonstrate that Foxd3 is an essential upstream regulator of the Nodal pathway in zebrafish dorsal mesoderm development and establish a broadly conserved role for Foxd3 in vertebrate mesodermal development. ..
- 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. ..
- Yeung R, Hino O, Vilensky M, Buetow K, Szpirer C, Szpirer J, et al. Assignment of 22 loci in the rat by somatic hybrid and linkage analysis. Mamm Genome. 1993;4:585-8 pubmed..Results of this study further support the extensive conservation of synteny between the rat and mouse and, to a lesser degree, between rat and human. ..
- Cannon J, Tatchell K. Characterization of Saccharomyces cerevisiae genes encoding subunits of cyclic AMP-dependent protein kinase. Mol Cell Biol. 1987;7:2653-63 pubmed..These findings indicate that the yeast RAS genes are dispensable if there is constitutive cAMP-dependent protein kinase activity. ..
- Tewari D, Cook D, Taub R. Characterization of the promoter region and 3' end of the human insulin receptor gene. J Biol Chem. 1989;264:16238-45 pubmed..Such tissue-specific transcriptional regulation would be a novel finding in a housekeeping promoter. ..
- Blankenhorn E, Duncan R, Huppi K, Potter M. Chromosomal location of the regulator of mouse alpha-fetoprotein, Afr-1. Genetics. 1988;119:687-91 pubmed..These results are discussed with respect to the susceptibility or resistance of different BALB/c sublines (which are either Afr-1a or Afr-1b, respectively) to pristane-induced plasmacytomas. ..
- Ku D, Kagan J, Chen S, Chang C, Baserga R, Wurzel J. The human fibroblast adenine nucleotide translocator gene. Molecular cloning and sequence. J Biol Chem. 1990;265:16060-3 pubmed..Differences among the sequence motifs of the 5'-flanking region of the three human translocase genes could account for differences in their cell type-specific and proliferation-associated expression. ..
- Tartof K, Henikoff S. Trans-sensing effects from Drosophila to humans. Cell. 1991;65:201-3 pubmed
- Sugawara T, Holt J, Driscoll D, Strauss J, Lin D, Miller W, et al. Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13. Proc Natl Acad Sci U S A. 1995;92:4778-82 pubmed..A StAR pseudogene was mapped to chromosome 13. We conclude that StAR expression is restricted to tissues that carry out mitochondrial sterol oxidations subject to acute regulation by cAMP and that StAR mRNA levels are regulated by cAMP. ..
- Clark P, Dawany N, Dampier W, Byers S, Pestell R, Tozeren A. Bioinformatics analysis reveals transcriptome and microRNA signatures and drug repositioning targets for IBD and other autoimmune diseases. Inflamm Bowel Dis. 2012;18:2315-33 pubmed publisher..Integration of mice and human data point to an altered B-cell response as a cause for upregulation of genes in IBD involved in other aspects of immune defense such as interferon-inducible responses. ..
- Gomez M, Cutting S. BofC encodes a putative forespore regulator of the Bacillus subtilis sigma K checkpoint. Microbiology. 1997;143 ( Pt 1):157-70 pubmed..BofC acts negatively on SpoIVB and the results described suggest that BofC regulates SpoIVB activity and its intercompartmental signalling role in the sigma K checkpoint. ..
- Cash F, Monplaisir N, Goossens M, Liebhaber S. Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val). Blood. 1989;74:833-5 pubmed..These results further define the distribution of alpha-globin structural mutations within the alpha-globin gene cluster and substantiate the dominant role of the alpha 2-globin locus in alpha-globin expression. ..
- Ranganathan S, Ciaccio P, Walsh E, Tew K. Genomic sequence of human glyoxalase-I: analysis of promoter activity and its regulation. Gene. 1999;240:149-55 pubmed..Knowledge regarding the regulation of glyoxalase-I may provide insights into the importance of this enzyme in human diseases. ..
- Travali S, Ku D, Rizzo M, Ottavio L, Baserga R, Calabretta B. Structure of the human gene for the proliferating cell nuclear antigen. J Biol Chem. 1989;264:7466-72 pubmed..An interesting feature of the PCNA gene is the presence of extensive sequence similarities among introns and between introns and exons. ..
- George A, Komisarof J, Kallen R, Barchi R. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol. 1992;31:131-7 pubmed..This structural information should provide the necessary backdrop for identifying and evaluating mutations affecting the function of this channel in the periodic paralyses...
- Brilliant M, Gondo Y, Eicher E. Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science. 1991;252:566-9 pubmed..The duplication associated with the mouse pink-eyed unstable mutation may mediate the high reversion frequency characteristic of this mutation. ..
- Ahmad N, Ala Kokko L, Knowlton R, Jimenez S, Weaver E, Maguire J, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A. 1991;88:6624-7 pubmed
- Tweardy D, Cannizzaro L, Palumbo A, Shane S, Huebner K, VanTuinen P, et al. Molecular cloning and characterization of a cDNA for human granulocyte colony-stimulating factor (G-CSF) from a glioblastoma multiforme cell line and localization of the G-CSF gene to chromosome band 17q21. Oncogene Res. 1987;1:209-20 pubmed..Somatic cell hybridization studies and chromosomal in situ hybridization localized the G-CSF gene to the long arm of chromosome 17 in band 17q21, proximal to the 17q breakpoint characteristic of acute promyelocytic leukemia. ..
- Parente M, Chung L, Ryynänen J, Woodley D, Wynn K, Bauer E, et al. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci U S A. 1991;88:6931-5 pubmed
- Schug J, Schuller W, Kappen C, Salbaum J, Bucan M, Stoeckert C. Promoter features related to tissue specificity as measured by Shannon entropy. Genome Biol. 2005;6:R33 pubmed..We have begun to understand the components of promoters that distinguish tissue-specific from ubiquitous genes, to identify associations that can predict the broad class of gene expression from sequence data alone. ..
- Lord K, Hoffman Liebermann B, Liebermann D. Sequence of MyD116 cDNA: a novel myeloid differentiation primary response gene induced by IL6. Nucleic Acids Res. 1990;18:2823 pubmed
- Wilson R, Tatchell K. SRA5 encodes the low-Km cyclic AMP phosphodiesterase of Saccharomyces cerevisiae. Mol Cell Biol. 1988;8:505-10 pubmed..sra5 strains failed to survive prolonged nitrogen starvation in the presence of exogenous cAMP. ..
- Jänne P, Rochelle J, Martin DeLeon P, Stambolian D, Seldin M, Nussbaum R. Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. Genomics. 1995;28:280-5 pubmed..The position of Inpp5b on mouse Chromosome 4 is in the vicinity of the mouse developmental mutation dysgenetic lens (dyl). However, using a genetic approach, we show that Inpp5b maps distal to dyl on mouse Chromosome 4. ..