Experts and Doctors on introns in Houston, Texas, United States

Summary

Locale: Houston, Texas, United States
Topic: introns

Top Publications

  1. Saucedo Cardenas O, Kardon R, Ediger T, Lydon J, Conneely O. Cloning and structural organization of the gene encoding the murine nuclear receptor transcription factor, NURR1. Gene. 1997;187:135-9 pubmed
    ..Isolation and structural characterization of the NURR1 gene provides information for further developmental and transcriptional regulation studies of this gene. ..
  2. Qi J, Su S, McGuffin M, Mattox W. Concentration dependent selection of targets by an SR splicing regulator results in tissue-specific RNA processing. Nucleic Acids Res. 2006;34:6256-63 pubmed
    ..We propose that quantitative differences in regulator expression can give rise to cell-type-specific restrictions in splicing. ..
  3. Chan W, Huang L, Gudikote J, Chang Y, Imam J, Maclean J, et al. An alternative branch of the nonsense-mediated decay pathway. EMBO J. 2007;26:1820-30 pubmed
  4. Parant J, Reinke V, Mims B, Lozano G. Organization, expression, and localization of the murine mdmx gene and pseudogene. Gene. 2001;270:277-83 pubmed
    ..Additionally, a pseudogene for mdmx was also identified that resides on the mouse X chromosome. Expression analysis of mdmx transcripts during mouse embryogenesis revealed constitutive and ubiquitous expression throughout development. ..
  5. Baehr W, Champagne M, Lee A, Pittler S. Complete cDNA sequences of mouse rod photoreceptor cGMP phosphodiesterase alpha- and beta-subunits, and identification of beta'-, a putative beta-subunit isozyme produced by alternative splicing of the beta-subunit gene. FEBS Lett. 1991;278:107-14 pubmed
    ..A 300 residue segment thought to contain the active site is present in the C-terminal half of alpha, beta and beta'. ..
  6. Karpathy S, Qin X, Gioia J, Jiang H, Liu Y, Petrosino J, et al. Genome sequence of Fusobacterium nucleatum subspecies polymorphum - a genetically tractable fusobacterium. PLoS ONE. 2007;2:e659 pubmed
    ..These findings indicate that F. nucleatum subsp. polymorphum is proficient at horizontal gene transfer and that exchange with the Firmicutes, particularly the Clostridia, is common...
  7. Nevozhay D, Zal T, BALAZSI G. Transferring a synthetic gene circuit from yeast to mammalian cells. Nat Commun. 2013;4:1451 pubmed publisher
    ..The steps we have taken should be generally relevant for transferring any gene circuit from yeast into mammalian cells. ..
  8. Vasquez K, Wensel T, Hogan M, Wilson J. High-efficiency triple-helix-mediated photo-cross-linking at a targeted site within a selectable mammalian gene. Biochemistry. 1996;35:10712-9 pubmed
    ..These results indicate that psorTFO1 allows for DNA damage with high precision and high efficiency, and the likely proportion of monoadducts and cross-links can be estimated from the target sequence. ..
  9. Shen M, Mattox W. Activation and repression functions of an SR splicing regulator depend on exonic versus intronic-binding position. Nucleic Acids Res. 2012;40:428-37 pubmed publisher
    ..This suggests a model in which these two opposite functions act in concert to define both the position and extent of alternatively spliced exons. ..

More Information

Publications79

  1. McGuire R, Daiger S, Green E. Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) gene. Genomics. 1997;41:481-4 pubmed
    ..With six coding exons and five introns, the genomic structure of ARF5 is unique among the mammalian ARF genes and provides insight about the evolutionary history of this ancient gene family. ..
  2. Li K, Ramirez M, Rose E, Beaudet A. A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor. Hum Mol Genet. 2002;11:3257-65 pubmed
    ..The data demonstrate the feasibility of using gene fusions to screen for drugs and genetic factors that affect expression of a wide variety of genes of interest. ..
  3. Wang C, Uray I, Mazumdar A, Mayer J, Brown P. SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE). Breast Cancer Res Treat. 2012;134:101-15 pubmed publisher
    ..Since SLC22A5 is a critical regulator of carnitine homeostasis, lipid metabolism, and cell proliferation, SLC22A5 may serve as a potential therapeutic target for breast cancer in the future. ..
  4. Hossain A, Li C, Saunders G. Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing. Mol Endocrinol. 2004;18:1428-37 pubmed
  5. Talerico M, Berget S. Intron definition in splicing of small Drosophila introns. Mol Cell Biol. 1994;14:3434-45 pubmed
    ..We propose that splice sites can be recognized as pairs across either exons or introns, depending on which distance is shorter, and that a pyrimidine-rich region upstream of the 3' splice site facilitates the exon mode. ..
  6. Pan J, Lin J, Izzo J, Liu Y, Xing J, Huang M, et al. Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. Carcinogenesis. 2009;30:785-92 pubmed publisher
    ..These findings warrant further replications in different populations. ..
  7. McCullough A, Berget S. An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5' splice sites. Mol Cell Biol. 2000;20:9225-35 pubmed
    ..We suggest that the G-rich region near vertebrate 5' splice sites promotes accurate splice site recognition by recruiting the U1 snRNP. ..
  8. Waterland R, Dolinoy D, Lin J, Smith C, Shi X, Tahiliani K. Maternal methyl supplements increase offspring DNA methylation at Axin Fused. Genesis. 2006;44:401-6 pubmed
    ..Our results indicate that stochastic establishment of epigenotype at metastable epialleles is, in general, labile to methyl donor nutrition, and such influences are not limited to early embryonic development. ..
  9. Spicer A, Joo A, Bowling R. A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links. J Biol Chem. 2003;278:21083-91 pubmed
    ..Comparison of the genomic structures for the HAPLN, CSPG genes and other members of the link module superfamily provide strong support for a common evolutionary origin from an ancestral gene containing one link module encoding exon. ..
  10. Aguilar Bryan L, Clement J, Gonzalez G, Kunjilwar K, Babenko A, Bryan J. Toward understanding the assembly and structure of KATP channels. Physiol Rev. 1998;78:227-45 pubmed
    ..The availability of cloned KATP channel genes opens the way for characterization of this family of ion channels and identification of additional genetic defects...
  11. de Mars M, Cizdziel P, Murphy E. Activation of thermosensitive RNA splicing and production of a heat-labile P85gag-mos kinase by the introduction of a specific deletion in murine sarcoma virus-124 DNA. J Virol. 1988;62:1907-16 pubmed
  12. Nakashima T, Pak S, Silverman G, Spring P, Frederick M, Clayman G. Genomic cloning, mapping, structure and promoter analysis of HEADPIN, a serpin which is down-regulated in head and neck cancer cells. Biochim Biophys Acta. 2000;1492:441-6 pubmed
    ..Understanding the genomic organization and transcriptional regulation of the ov-serpins clustered within 18q21. 3 provides a critical framework for assessing their potential role in cancer. ..
  13. Singh G, Charlet B N, Han J, Cooper T. ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. Nucleic Acids Res. 2004;32:1232-41 pubmed
    ..These results identify specific regions of ETR-3 and CELF4 that are likely targets of protein-protein interactions required for splicing activation. ..
  14. Deere M, Dieguez J, Yoon S, Hewett Emmett D, de la Chapelle A, Hecht J. Genomic characterization of human DSPG3. Genome Res. 1999;9:449-56 pubmed
    ..Hence, it appears that the majority of the introns in the SLRP genes were inserted after the differentiation of the SLRP genes from an ancestral gene that was most likely composed of 2-3 exons. ..
  15. Lo H, Ali Osman F. Genomic cloning of hGSTP1*C, an allelic human Pi class glutathione S-transferase gene variant and functional characterization of its retinoic acid response elements. J Biol Chem. 1997;272:32743-9 pubmed
    ..The isolation of the hGSTP1*C gene and the evidence that it contains functional RAREs should contribute to a better understanding of the molecular regulation of the GST-Pi gene in human cells. ..
  16. Ye X, Tao Q, Wang Y, Cheng Y, Lotan R. Mechanisms underlying the induction of the putative human tumor suppressor GPRC5A by retinoic acid. Cancer Biol Ther. 2009;8:951-62 pubmed
    ..These results demonstrate the importance of functional analysis for validating the activity of predicted response elements. ..
  17. Loya F, Yang Y, Lin H, Goldwasser E, Albitar M. Transgenic mice carrying the erythropoietin gene promoter linked to lacZ express the reporter in proximal convoluted tubule cells after hypoxia. Blood. 1994;84:1831-6 pubmed
    ..However, anemia induced lacZ expression in both kidney and liver. These findings indicate that, under these conditions, Epo is expressed in tubular cells, specifically PCT cells. ..
  18. Siefert J. Defining the mobilome. Methods Mol Biol. 2009;532:13-27 pubmed publisher
    ..This chapter provides a framework to describe our current understanding of the mobilome and a foundation on which appreciation of its impact on genome evolution can be understood. ..
  19. Venken K, Schulze K, Haelterman N, Pan H, He Y, Evans Holm M, et al. MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes. Nat Methods. 2011;8:737-43 pubmed
    ..Insertions in coding introns can be exchanged with protein-tag cassettes to create fusion proteins to follow protein expression and perform biochemical experiments. The applications of MiMIC vastly extend the D. melanogaster toolkit. ..
  20. Wilkemeyer M, Andrews E, Ledley F. Genomic structure of murine methylmalonyl-CoA mutase: evidence for genetic and epigenetic mechanisms determining enzyme activity. Biochem J. 1993;296 ( Pt 3):663-70 pubmed
    ..These results suggest that, although there may be regulation of MCM activity at the level of mRNA, the significance of genetic regulation is unclear owning to the presence of epigenetic regulation of holoenzyme formation. ..
  21. Seibold A, Brabet P, Rosenthal W, Birnbaumer M. Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am J Hum Genet. 1992;51:1078-83 pubmed
    ..The V2R gene was localized by PCR using DNA from hybrid cells as template. The gene was found to reside in the q28-qter portion of the human X chromosome, a region identified as the locus for congenital nephrogenic diabetes insipidus. ..
  22. Bernard M, Hall C, Hogue D, Cole W, Scott A, Snuggs M, et al. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Cell Motil Cytoskeleton. 2001;48:149-62 pubmed
    ..These results suggest that multiple mutational steps are involved in exostosis development and that EXT genes play a role in cell signaling related to chondrocyte cytoskeleton regulation. ..
  23. Cheung P, Culic O, Qiu Y, Earley K, Thompson N, Hixson D, et al. The cytoplasmic domain of C-CAM is required for C-CAM-mediated adhesion function: studies of a C-CAM transcript containing an unspliced intron. Biochem J. 1993;295 ( Pt 2):427-35 pubmed
    ..Although C-CAM3 cDNA contains the polyadenylation signal and is polyadenylated, these results indicate that C-CAM3 is probably an incomplete spliced product of C-CAM1 gene. ..
  24. Henning D, Valdez B. Expression of p40/Epstein-Barr virus nuclear antigen 1 binding protein 2. Biochem Biophys Res Commun. 2001;283:430-6 pubmed
    ..These two regions contain eight Sp1 and four c-Ets-1 putative binding sites. Analysis of the p40/EBP2 gene and its promoter region will facilitate studies on the regulation of its expression in EBV-infected and noninfected cells. ..
  25. Zhao Q, Chen K, Bejjani B, Lupski J. Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998;49:394-400 pubmed
    ..Although contained within the SMS common deletion interval, FISH experiments show that ZNF179 is not deleted in two SMS patients with smaller deletions. ..
  26. Kobayashi K, Jackson M, Tick D, O Brien W, Beaudet A. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J Biol Chem. 1990;265:11361-7 pubmed
    ..There is extreme heterogeneity of mutations causing citrulinemia. This heterogeneity may prove typical for less common autosomal recessive human genetic diseases. ..
  27. Knoll B, Rothblum K, Longley M. Nucleotide sequence of the human placental alkaline phosphatase gene. Evolution of the 5' flanking region by deletion/substitution. J Biol Chem. 1988;263:12020-7 pubmed
  28. Kirkpatrick L, McIlwain K, Nelson D. Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2. Genomics. 2001;78:169-77 pubmed
    ..Knowledge of the genomic structure and sequence of the FXR family of genes will facilitate further studies into the function of these proteins. ..
  29. Li D, Bachinski L, Roberts R. Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. Genomics. 2001;74:396-401 pubmed
    ..While the function of NAPOR remains to be elucidated, our current characterization of the NAPOR gene will be valuable for further clinical and functional study. ..
  30. Uray I, Shen Q, Seo H, Kim H, Lamph W, Bissonnette R, et al. Rexinoid-induced expression of IGFBP-6 requires RARbeta-dependent permissive cooperation of retinoid receptors and AP-1. J Biol Chem. 2009;284:345-53 pubmed publisher
    ..These results demonstrate a novel cooperative interaction between retinoid receptors and AP-1 orchestrated by RARbeta and highlight a novel mechanism by which RARbeta can mediate the cancer-preventive effects of rexinoids. ..
  31. Rajkovic A, Yan C, Yan W, Klysik M, Matzuk M. Obox, a family of homeobox genes preferentially expressed in germ cells. Genomics. 2002;79:711-7 pubmed
    ..The Obox1 and Obox2 genomic structures revealed the presence of six exons each. The Obox genes represent a new family of tissue-specific homeobox genes preferentially expressed in gonads. ..
  32. Wang J, Hamilton J, Carter M, Li S, Wilkinson M. Alternatively spliced TCR mRNA induced by disruption of reading frame. Science. 2002;297:108-10 pubmed
    ..The finding that translation signals regulate the levels of alternatively spliced mRNAs generated in the nucleus may alter the current view of how gene expression is controlled in eukaryotic cells. ..
  33. Sellheyer K, Bickenbach J, Rothnagel J, Bundman D, Longley M, Krieg T, et al. Inhibition of skin development by overexpression of transforming growth factor beta 1 in the epidermis of transgenic mice. Proc Natl Acad Sci U S A. 1993;90:5237-41 pubmed
  34. Martha A, Ferrell R, Mintz Hittner H, Lyons L, Saunders G. Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet. 1994;54:801-11 pubmed
    ..All five mutations predict truncated PAX6 proteins. Our study indicates that early premature translational termination mutations in the PAX6 gene result in haploinsufficiency and generate the aniridia phenotype...
  35. Aitken J, van Heusden G, Temkin M, Dowhan W. The gene encoding the phosphatidylinositol transfer protein is essential for cell growth. J Biol Chem. 1990;265:4711-7 pubmed
    ..Nonviable spores could be rescued by transformation of the above diploid prior to sporulation, with a plasmid-borne copy of the wild type gene. ..
  36. Li G, Walch E, Yang X, Lippman S, Clifford J. Cloning and characterization of the human retinoid X receptor alpha gene: conservation of structure with the mouse homolog. Biochem Biophys Res Commun. 2000;269:54-7 pubmed
    ..These results provide information necessary to generate constructs for targeting the RXRalpha gene in human cell lines, which may eventually lead to an understanding of the function of RXRalpha in human cancer. ..
  37. Zhu H, Lu W, Laurent C, Shaw G, Lammer E, Finnell R. Genes encoding catalytic subunits of protein kinase A and risk of spina bifida. Birth Defects Res A Clin Mol Teratol. 2005;73:591-6 pubmed
    ..In addition, interactions with other genes such as Sonic Hedgehog (SHH) should also be considered for future investigations. ..
  38. Habib G, Barrios R, Shi Z, Lieberman M. Four distinct membrane-bound dipeptidase RNAs are differentially expressed and show discordant regulation with gamma-glutamyl transpeptidase. J Biol Chem. 1996;271:16273-80 pubmed
    ..Thus, although both enzymes may function in concert to metabolize glutathione in kidney and small intestine, in other tissues they appear to act independently, suggesting that they have independent roles in other biological processes. ..
  39. Santee S, Owen Schaub L. Human tumor necrosis factor receptor p75/80 (CD120b) gene structure and promoter characterization. J Biol Chem. 1996;271:21151-9 pubmed
  40. Ou H, Shen Y, Utama B, Wang J, Wang X, Coselli J, et al. Effect of nuclear actin on endothelial nitric oxide synthase expression. Arterioscler Thromb Vasc Biol. 2005;25:2509-14 pubmed
    ..Our findings represent a novel molecular mechanism regulating eNOS expression, which could potentially lead to discoveries of eNOS specific pharmaceutical agents, eg, active peptides, with clinical applications. ..
  41. Wang H, Yan C, Asangani I, Allgayer H, Boyd D. Identification of an histone H3 acetylated/K4-methylated-bound intragenic enhancer regulatory for urokinase receptor expression. Oncogene. 2007;26:2058-70 pubmed
    ..Thus, we have defined a novel intragenic enhancer in the u-PAR gene required for constitutive and inducible expression. ..
  42. Pappu K, Ostrin E, Middlebrooks B, Sili B, Chen R, Atkins M, et al. Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund. Development. 2005;132:2895-905 pubmed
    ..Our results suggest that the two eye enhancers act redundantly and in concert with each other to integrate distinct upstream inputs and direct the eye-specific expression of dac. ..
  43. Prakash S, Paylor R, Jenna S, Lamarche Vane N, Armstrong D, Xu B, et al. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000;9:477-88 pubmed
    ..These results suggest that ARHGAP6 has two independent functions: one as a GAP with specificity for RhoA and the other as a cytoskeletal protein that promotes actin remodeling. ..
  44. Meservy J, Sargent R, Iyer R, Chan F, McKenzie G, Wells R, et al. Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol Cell Biol. 2003;23:3152-62 pubmed
    ..Instead, they displayed high frequencies of small changes in repeat number. The (CTG)(17) repeats were stable in all assays. These studies indicate that homologous recombination strongly destabilizes long tracts of CTG repeats. ..
  45. Tang H, Xia A, Oghalai J, Pereira F, Alford R. High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. BMC Med Genet. 2005;6:30 pubmed
    ..Additional studies are needed to evaluate the effect of the IVS2-2A>G transition on splicing of SLC26A5 transcripts and characterize the hearing status of individuals homozygous for the IVS2-2A>G variant. ..
  46. Hu M, Shui J, Mihindukulasuriya K, Tan T. Genomic structure of the mouse PP4 gene: a developmentally regulated protein phosphatase. Gene. 2001;278:89-99 pubmed
    ..PP4 was differentially expressed in murine embryos at different developmental stages, suggesting that PP4 is a developmentally regulated protein phosphatase. ..
  47. Cunningham G, Headon D, Conneely O. Structural organization of the mouse lactoferrin gene. Biochem Biophys Res Commun. 1992;189:1725-31 pubmed
    ..2 kb to 4.3 kb. Structural analysis of the mouse lactoferrin gene reveals that this gene shares a similar intron-exon distribution pattern with both human transferrin and chicken ovotransferrin. ..
  48. de Mars M, Cizdziel P, Murphy E. Activation of cryptic splice sites in murine sarcoma virus-124 mutants. J Virol. 1990;64:5260-9 pubmed
  49. Liou G, Ma D, Yang Y, Geng L, Zhu C, Baehr W. Human interstitial retinoid-binding protein. Gene structure and primary structure. J Biol Chem. 1989;264:8200-6 pubmed
    ..A domain consisting of 41 residues at the COOH-terminal end of the third segment has 15 matching residues (38%) with an intradiscal loop of rhodopsin, a retinal-binding protein in rod photoreceptors. ..
  50. Sohn K, Maity S, de Crombrugghe B. Studies on the structure of the mouse CBF-A gene and properties of a truncated CBF-A isoform generated from an alternatively spliced RNA. Gene. 1994;139:147-53 pubmed
    ..This result indicates that the segment corresponding to the exons missing in the truncated isoform of CBF-A is essential for the binding of CBF to DNA. ..
  51. Mishina Y, Suzuki A, Gilbert D, Copeland N, Jenkins N, Ueno N, et al. Genomic organization and chromosomal location of the mouse type I BMP-2/4 receptor. Biochem Biophys Res Commun. 1995;206:310-7 pubmed
    ..Bmpr is closely linked to Rbp3 in the region containing pugnose, a mutation that alters bone development. Knowledge of the genomic structure of Bmpr provides important information to create Bmpr-deficient mice. ..
  52. Zhao Z, Yazdani A, Shen Y, Sun Z, Bailey J, Caskey C, et al. Molecular dissection of a cosmid from a gene-rich region in 17q21 and characterization of a candidate gene for alpha-N-acetylglucosaminidase with two cDNA isoforms. Mamm Genome. 1996;7:686-90 pubmed
    ..Finally, our study has shown that the 46.7-kb cosmid c140c10 encompasses loci for five genes and pseudo-genes: PsiPTP4A, ufHSD, 17-HSDI, 17-HSDII, and 22A1. ..
  53. Winston J, Hong L, Datta S, Kellems R. An intron 1 regulatory region from the murine adenosine deaminase gene can activate heterologous promoters for ubiquitous expression in transgenic mice. Somat Cell Mol Genet. 1996;22:261-78 pubmed
    ..Both the thymic enhancer and the ubiquitous activator within the 3.3EE fragment functioned with heterologous promoters in transgenic mice. ..
  54. Xu P, Liang R, Jankovic J, Hunter C, Zeng Y, Ashizawa T, et al. Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease. Neurology. 2002;58:881-4 pubmed
    ..The clinical features of these homozygote patients with PD did not differ from those of typical PD. The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD. ..
  55. Bowne S, Sullivan L, Ding L, Traer E, Prescott S, Birch D, et al. Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q. Mol Vis. 2000;6:6-9 pubmed
    ..Mutations in diacylglycerol kinase(iota) may yet be the cause of recessive forms of retinal degeneration in humans, either in homozygous or compound heterozygous forms. The data provided here will permit testing of this hypothesis. ..
  56. Oeltjen J, Liu X, Lu J, Allen R, Muzny D, Belmont J, et al. Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995;6:334-8 pubmed
    ..The surprisingly high gene density is similar to that seen previously only in the human major histocompatibility locus. ..
  57. Cubbage M, Suwanichkul A, Powell D. Insulin-like growth factor binding protein-3. Organization of the human chromosomal gene and demonstration of promoter activity. J Biol Chem. 1990;265:12642-9 pubmed
    ..These observations suggest an uncomplicated organization for the IGFBP-3 chromosomal gene and promoter in the human genome. ..
  58. Surh L, Beaudet A, O Brien W. Molecular characterization of the murine argininosuccinate synthetase locus. Gene. 1991;99:181-9 pubmed
    ..The inclusion of exon 2 in murine mRNA, compared to the usual exclusion in human mRNA, may be explained by differences in the donor splice sequences for exon 2. ..
  59. Larsen M, Ressler S, Gerdes M, Lu B, Byron M, Lawrence J, et al. The WFDC1 gene encoding ps20 localizes to 16q24, a region of LOH in multiple cancers. Mamm Genome. 2000;11:767-73 pubmed
    ..Identification and characterization of the WFDC1 gene may aid in better understanding the potential role of this gene and ps20 in prostate biology and carcinogenesis. ..
  60. Chehab E, KIM S, Savchenko T, Kliebenstein D, Dehesh K, Braam J. Intronic T-DNA insertion renders Arabidopsis opr3 a conditional jasmonic acid-producing mutant. Plant Physiol. 2011;156:770-8 pubmed publisher
  61. Wang Y, Suh Y, Fuller M, Jackson J, Xiong S, Terzian T, et al. Restoring expression of wild-type p53 suppresses tumor growth but does not cause tumor regression in mice with a p53 missense mutation. J Clin Invest. 2011;121:893-904 pubmed publisher
    ..Our findings support using p53 restoration as a strategy to treat human cancers with P53 missense mutations and provide direction for optimizing p53 restoration in cancer therapy. ..
  62. Agoulnik I, Tong X, Fischer D, K├Ârner K, Atkinson N, Edwards D, et al. A germline variation in the progesterone receptor gene increases transcriptional activity and may modify ovarian cancer risk. J Clin Endocrinol Metab. 2004;89:6340-7 pubmed
    ..This is of special interest, because only a few genetic markers are available for the majority of women diagnosed with sporadic ovarian cancer. ..
  63. Chan P, Chan F, Morris S, Xie Z. Isolation and characterization of the human nucleophosmin/B23 (NPM) gene: identification of the YY1 binding site at the 5' enhancer region. Nucleic Acids Res. 1997;25:1225-32 pubmed
    ..We confirmed that protein A is transcription factor YY1. These results suggest that YY1 may play a role in NPM gene expression. This is the first report on human NPM gene structure and sequence. ..
  64. Lin X, Wells D, Kimberling W, Kumar S. Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. Hum Hered. 1999;49:75-80 pubmed
    ..To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found. ..
  65. Jiang Y, Wauki K, Liu Q, Bressler J, Pan Y, Kashork C, et al. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics. 2008;9:50 pubmed publisher
    ..In terms of copy number variation and gene organization, this is one of the most polymorphic regions of the human genome, and perhaps the single most polymorphic region of this type. ..
  66. Toman P, de Crombrugghe B. The mouse type-III procollagen-encoding gene: genomic cloning and complete DNA sequence. Gene. 1994;147:161-8 pubmed
    ..A comparison of mCOL3 versus the human type-III collagen (hCOL3) showed 91% identity at the aa level. ..
  67. Maiti S, Doskow J, Li S, Nhim R, Lindsey J, Wilkinson M. The Pem homeobox gene. Androgen-dependent and -independent promoters and tissue-specific alternative RNA splicing. J Biol Chem. 1996;271:17536-46 pubmed
    ..To our knowledge no transcription factors have previously been identified that exhibit androgen-dependent expression in the epididymis. ..
  68. Kennedy C, Kramer A, Berget S. A role for SRp54 during intron bridging of small introns with pyrimidine tracts upstream of the branch point. Mol Cell Biol. 1998;18:5425-34 pubmed
    ..We suggest that U2AF- and/or SRp54-mediated intron bridging may be an alternative early recognition mode to SF1-directed bridging for small introns, suggesting gene-specific early spliceosome assembly. ..
  69. Kelley R, Wang J, Bell L, Kuroda M. Sex lethal controls dosage compensation in Drosophila by a non-splicing mechanism. Nature. 1997;387:195-9 pubmed
    ..Thus, this well characterized alternative splicing factor regulates at least one target transcript by a distinct mechanism. ..
  70. Ansari Lari M, Shen Y, Muzny D, Lee W, Gibbs R. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997;7:268-80 pubmed
    ..The high number of genes with diverse functions and complex transcriptional patterns make this region ideal for addressing challenges of gene discovery and genomic characterization amenable to large-scale sequence analysis. ..