Experts and Doctors on base sequence in Bethesda, Maryland, United States

Summary

Locale: Bethesda, Maryland, United States
Topic: base sequence

Top Publications

  1. Srivastava M, Gibson K, Pollard H, Fleming P. Human cytochrome b561: a revised hypothesis for conformation in membranes which reconciles sequence and functional information. Biochem J. 1994;303 ( Pt 3):915-21 pubmed
    ..These results support the hypothesis that cytochrome b561 is a marker for peptidergic and adrenergic tissues. ..
  2. Agarwal S, Novotny E, Crabtree J, Weitzman J, Yaniv M, Burns A, et al. Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter. Proc Natl Acad Sci U S A. 2003;100:10770-5 pubmed
    ..To conclude, JunD changed from growth suppressor to growth promoter when its binding to menin was prevented by a JunD mutant unable to bind menin or by Men1-null genetic background. ..
  3. Roessler E, Ma Y, Ouspenskaia M, Lacbawan F, Bendavid C, Dubourg C, et al. Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet. 2009;125:393-400 pubmed publisher
  4. Liu X, Robinson G, Gouilleux F, Groner B, Hennighausen L. Cloning and expression of Stat5 and an additional homologue (Stat5b) involved in prolactin signal transduction in mouse mammary tissue. Proc Natl Acad Sci U S A. 1995;92:8831-5 pubmed
    ..The increase of Stat5 expression during pregnancy coincides with the activation of the WAP gene. ..
  5. Tang P, Gannon M, Andrew A, Miller D. Evidence for oestrogenic regulation of heat shock protein expression in human endometrium and steroid-responsive cell lines. Eur J Endocrinol. 1995;133:598-605 pubmed
    ..No clear effect of agonist addition on HSP mRNA expression was apparent in the HRT-18 cultures. A possible mechanism for observed oestrogenic effects on HSP expression is put forward. ..
  6. Merta A, Aksamit R, Kasir J, Cantoni G. The gene and pseudogenes of rat S-adenosyl-L-homocysteine hydrolase. Eur J Biochem. 1995;229:575-82 pubmed
    ..Other potential transcription-factor binding sites including SP1, AP-2, GRE and Oct-1 sites were identified in the 5'-flanking region. Several different processed pseudogenes were found and analyzed. ..
  7. Zhang J, Luo G, Herrera A, Paterson B, Horowits R. cDNA cloning of mouse nebulin. Evidence that the nebulin-coding sequence is highly conserved among vertebrates. Eur J Biochem. 1996;239:835-41 pubmed
    ..The sequence and Southern-blot data suggest that the nebulin sequence is highly conserved among vertebrate species. ..
  8. Srinivasan S, Seaman M, Nemoto Y, Daniell L, Suchy S, Emr S, et al. Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis. Eur J Cell Biol. 1997;74:350-60 pubmed
    ..No defect in carboxypeptidase Y sorting was seen in a processing and targeting assay. Abnormal actin cytoskeleton morphology was present in some of the strains carrying mutations in two of the genes. ..
  9. Bonafe N, Sellers J. Molecular characterization of myosin V from Drosophila melanogaster. J Muscle Res Cell Motil. 1998;19:129-41 pubmed
    ..While vertebrates would need two different myosin V isoforms to accomplish specific functions, we speculate that Drosophila myosin V might provide the equivalent functions by itself. ..

More Information

Publications418 found, 100 shown here

  1. Wagner K, Claudio E, Rucker E, Riedlinger G, Broussard C, Schwartzberg P, et al. Conditional deletion of the Bcl-x gene from erythroid cells results in hemolytic anemia and profound splenomegaly. Development. 2000;127:4949-58 pubmed
    ..Mice conditionally deficient in Bcl-x permitted us for the first time to study the effects of Bcl-x deficiency on cell proliferation, maturation and survival under physiological conditions in an adult animal. ..
  2. Srikantan V, Zou Z, Petrovics G, Xu L, Augustus M, Davis L, et al. PCGEM1, a prostate-specific gene, is overexpressed in prostate cancer. Proc Natl Acad Sci U S A. 2000;97:12216-21 pubmed
  3. Zhao Y, Hermesz E, Yarolin M, Westphal H. Genomic structure, chromosomal localization and expression of the human LIM-homeobox gene LHX5. Gene. 2000;260:95-101 pubmed
    ..Fluorescence in situ hybridization mapped the LHX5 gene to chromosome 12, position 12q24.31-24.32. These results provide a framework for future analysis of possible association of human hereditary disorders with mutations in LHX5. ..
  4. Fiorenza M, Mukhopadhyay M, Westphal H. Expression screening for Lhx3 downstream genes identifies Thg-1pit as a novel mouse gene involved in pituitary development. Gene. 2001;278:125-30 pubmed
    ..No expression is observed in the pituitary rudiment of mutants that lack Lhx3 function. A possible role is thus suggested for Lhx3 activities in the regulation of Thg-1pit function during early steps of pituitary organogenesis. ..
  5. Jung Y, Lyu M, Buckler White A, Kozak C. Characterization of a polytropic murine leukemia virus proviral sequence associated with the virus resistance gene Rmcf of DBA/2 mice. J Virol. 2002;76:8218-24 pubmed
    ..This study identifies an Rmcf-linked MCF provirus and indicates that, like the ecotropic virus resistance gene Fv4, Rmcf may mediate resistance through an interference mechanism. ..
  6. Majdalani N, Hernandez D, Gottesman S. Regulation and mode of action of the second small RNA activator of RpoS translation, RprA. Mol Microbiol. 2002;46:813-26 pubmed
    ..This work suggests a new signal for RpoS translation and extends the global regulation effected by the RcsC/RcsB system to coregulation of RpoS with capsule and FtsZ. ..
  7. Kemp C, Kopish K, Zipperlen P, Ahringer J, O Connell K. Centrosome maturation and duplication in C. elegans require the coiled-coil protein SPD-2. Dev Cell. 2004;6:511-23 pubmed
    ..Thus, we have identified SPD-2 as a factor critical for the two basic functions of the centrosome-microtubule organization and duplication. ..
  8. Zimonjic D, Liu J, Xu W, Zhou X, Popescu N, Shi G. Assignment of murine placental cathepsin R to mouse chromosome bands 13B2-B3 by fluorescence in situ hybridization. Cytogenet Genome Res. 2005;111:96 pubmed
  9. Lee W, Kim Y, Malik N, Ma C, Westphal H. Cloning and characterization of the 5'-flanking region of the Ehox gene. Biochem Biophys Res Commun. 2006;341:225-31 pubmed
    ..These results suggest that NFY is an essential regulatory factor for Ehox transcriptional activity, which is important for the post-implantation stage of the developing embryo. ..
  10. Stojanov S, Dejaco C, Lohse P, Huss K, Duftner C, Belohradsky B, et al. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to e. Ann Rheum Dis. 2008;67:1292-8 pubmed publisher
    ..T-cell senescence does not seem to have a pathogenetic role in affected patients. ..
  11. Shabalina S, Zaykin D, Gris P, Ogurtsov A, Gauthier J, Shibata K, et al. Expansion of the human mu-opioid receptor gene architecture: novel functional variants. Hum Mol Genet. 2009;18:1037-51 pubmed publisher
    ..Our results provide evidence for an essential role for MOR-1K isoforms in nociceptive signaling and suggest that genetic variations in alternative OPRM1 isoforms may contribute to individual differences in opiate responses. ..
  12. Wang Y, DiGiovanna J, Stern J, Hornyak T, Raffeld M, Khan S, et al. Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas. Proc Natl Acad Sci U S A. 2009;106:6279-84 pubmed publisher
    ..This gene is known to be a key regulator of carcinogenesis and therefore these data provide solid mechanistic support for UV protection for prevention of melanoma. ..
  13. Glushakova S, Humphrey G, Leikina E, Balaban A, Miller J, Zimmerberg J. New stages in the program of malaria parasite egress imaged in normal and sickle erythrocytes. Curr Biol. 2010;20:1117-21 pubmed publisher
    ..Separated parasites leave the erythrocyte by breaching its membrane, weakened by putative digestion of erythrocyte cytoskeleton and membrane poration...
  14. Szentpetery Z, Szakacs G, Bojjireddy N, Tai A, Balla T. Genetic and functional studies of phosphatidyl-inositol 4-kinase type III?. Biochim Biophys Acta. 2011;1811:476-83 pubmed publisher
    ..These data draw attention to PI4KIII? as one of the genes found in Chr22q11, a region affected by chromosomal instability, but do not substantiate the existence of a functionally relevant short form of PI4KIII?. ..
  15. Tobin L, Xie Y, Tsokos M, Chung S, Merz A, Arnold M, et al. Pegylated siRNA-loaded calcium phosphate nanoparticle-driven amplification of cancer cell internalization in vivo. Biomaterials. 2013;34:2980-90 pubmed publisher
    ..In conclusion, siRNA-loaded calcium phosphate nanoparticles incorporating non-cytotoxic amounts of doxorubicin markedly enhances nanoparticle internalization and results in increased payload delivery with concomitant on-target effects. ..
  16. Amin N, Peterkofsky A. Requirement for GLY-60 of Escherichia coli adenylyl cyclase for ATP binding and catalytic activity. Biochem Biophys Res Commun. 1992;182:1218-25 pubmed
    ..Smaller effects on kinetic parameters were observed with substitutions of lysine-59, leucine-63 or threonine-65. ..
  17. Wolffe A, Tafuri S, Ranjan M, Familari M. The Y-box factors: a family of nucleic acid binding proteins conserved from Escherichia coli to man. New Biol. 1992;4:290-8 pubmed
    ..Biologically they have roles in both transcriptional and translational regulation. Conserved through evolution from prokaryotic to eukaryotic organisms they represent a new family of nucleic acid binding proteins. ..
  18. Weinstein L, Shenker A, Gejman P, Merino M, Friedman E, Spiegel A. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325:1688-95 pubmed
    ..We analyzed DNA from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation...
  19. Finch P, Rubin J, Miki T, Ron D, Aaronson S. Human KGF is FGF-related with properties of a paracrine effector of epithelial cell growth. Science. 1989;245:752-5 pubmed
    ..By comparison with the expression of other epithelial cell mitogens, only KGF, among known human growth factors, has the properties of a stromal mediator of epithelial cell proliferation. ..
  20. Si J, Borst D, Redmond T, Nickerson J. Cloning of cDNAs encoding human interphotoreceptor retinoid-binding protein (IRBP) and comparison with bovine IRBP sequences. Gene. 1989;80:99-108 pubmed
    ..Thus, the human sequence is virtually full length, is similar to the bovine sequence, and contains a striking fourfold repeat. ..
  21. Mezey E. Cloning of the rat adrenal medullary phenylethanolamine-N-methyltransferase. Nucleic Acids Res. 1989;17:2125 pubmed
  22. Weissman A, Hou D, Orloff D, Modi W, Seuanez H, O Brien S, et al. Molecular cloning and chromosomal localization of the human T-cell receptor zeta chain: distinction from the molecular CD3 complex. Proc Natl Acad Sci U S A. 1988;85:9709-13 pubmed
    ..zeta has no sequence similarity to the CD3 chains and the localization of the human zeta gene to the centromeric region of chromosome 1 underscores the fact that it is a distinct genetic component of the TCR. ..
  23. Larner A, Finbloom D. Protein tyrosine phosphorylation as a mechanism which regulates cytokine activation of early response genes. Biochim Biophys Acta. 1995;1266:278-87 pubmed
  24. Duncan M, Haynes J, Piatigorsky J. The chicken beta A4- and beta B1-crystallin-encoding genes are tightly linked. Gene. 1995;162:189-96 pubmed
  25. Patterton D, Hayes W, Shi Y. Transcriptional activation of the matrix metalloproteinase gene stromelysin-3 coincides with thyroid hormone-induced cell death during frog metamorphosis. Dev Biol. 1995;167:252-62 pubmed
  26. Puck J, Pepper A, Bedard P, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest. 1995;95:895-9 pubmed
    ..Female germ line mosaicism is unusual, but its presence in this X-linked SCID family emphasizes the limitations of genetic diagnosis by linkage as compared with direct mutation analysis. ..
  27. Murphy P, Tiffany H, McDermott D, Ahuja S. Sequence and organization of the human N-formyl peptide receptor-encoding gene. Gene. 1993;133:285-90 pubmed
    ..Thus, FPR1 is a small myeloid-specific gene that is expressed as two alternatively spliced mRNAs encoding the same protein. ..
  28. Wang N, Gottesman S, Willingham M, Gottesman M, Maurizi M. A human mitochondrial ATP-dependent protease that is highly homologous to bacterial Lon protease. Proc Natl Acad Sci U S A. 1993;90:11247-51 pubmed
    ..coli Lon protease. ..
  29. Jensen J, Cenciarelli C, Hou D, Rellahan B, Dean M, Weissman A. T cell antigen receptor-eta subunit. Low levels of expression and limited cross-species conservation. J Immunol. 1993;150:122-30 pubmed
  30. Polymeropoulos M, Lavedan C, Leroy E, Ide S, Dehejia A, Dutra A, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997;276:2045-7 pubmed
    ..This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder. ..
  31. Pu R, Dasso M. The balance of RanBP1 and RCC1 is critical for nuclear assembly and nuclear transport. Mol Biol Cell. 1997;8:1955-70 pubmed
    ..The results further suggest that the balance of GTP- and GDP-Ran is critical for proper nuclear assembly and function in vitro. ..
  32. Altuvia S, Zhang A, Argaman L, Tiwari A, Storz G. The Escherichia coli OxyS regulatory RNA represses fhlA translation by blocking ribosome binding. EMBO J. 1998;17:6069-75 pubmed
    ..We examined the mechanism of OxyS repression of fhlA and found that the OxyS RNA inhibits fhlA translation by pairing with a short sequence overlapping the Shine-Dalgarno sequence, thereby blocking ribosome binding/translation. ..
  33. Strunnikov A, Aravind L, Koonin E. Saccharomyces cerevisiae SMT4 encodes an evolutionarily conserved protease with a role in chromosome condensation regulation. Genetics. 2001;158:95-107 pubmed
    ..The SIZ1 gene disruption is synthetically lethal with the SIZ2 deletion. We propose that SMT4, SIZ1, and SIZ2 are involved in a novel pathway of chromosome maintenance. ..
  34. Difilippantonio M, Petersen S, Chen H, Johnson R, Jasin M, Kanaar R, et al. Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification. J Exp Med. 2002;196:469-80 pubmed
    ..Thus, mice deficient in NHEJ provide excellent models to study the etiology of unbalanced translocations and amplification events during tumorigenesis. ..
  35. Aoki K, Kato J, Shoemaker M, Moss J. Genomic organization and promoter analysis of the mouse ADP-ribosylarginine hydrolase gene. Gene. 2005;351:83-95 pubmed
    ..The promoter activity pattern and involvement of Sp transcription factors are consistent with prior observations of widespread hydrolase expression in mammalian tissues. ..
  36. Brooks B, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulos S, et al. Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. Clin Genet. 2005;68:215-21 pubmed
    ..However, three subjects with classic AAAS did not have mutations in the AAAS gene on both alleles. This finding supports the notion of genetic heterogeneity for this disorder, although other genetic mechanisms cannot be excluded. ..
  37. Hu X, Lipsky R, Zhu G, Akhtar L, Taubman J, Greenberg B, et al. Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder. Am J Hum Genet. 2006;78:815-826 pubmed publisher
    ..The L(A) allele was twofold overtransmitted to the patients with OCD. The HTTLPR L(A)L(A) genotype exerts a moderate (1.8-fold) effect on risk of OCD, which crystallizes the evidence that the HTT gene has a role in OCD. ..
  38. Hasebe T, Hartman R, Fu L, Amano T, Shi Y. Evidence for a cooperative role of gelatinase A and membrane type-1 matrix metalloproteinase during Xenopus laevis development. Mech Dev. 2007;124:11-22 pubmed
    ..Thus, our studies support a cooperative role of these MMPs in embryonic development, likely through the activation of pro-GelA by MT1-MMP. ..
  39. Ngo T, Peng T, Liang X, Akeju O, Pastorino S, Zhang W, et al. The 1p-encoded protein stathmin and resistance of malignant gliomas to nitrosoureas. J Natl Cancer Inst. 2007;99:639-52 pubmed
    ..Loss of heterozygosity for the stathmin gene may be associated with improved outcomes of patients with 1p+/- anaplastic oligodendroglioma tumors. ..
  40. Das B, Dexheimer T, Maddali K, Pommier Y. Role of tyrosyl-DNA phosphodiesterase (TDP1) in mitochondria. Proc Natl Acad Sci U S A. 2010;107:19790-5 pubmed publisher
    ..Together, our findings provide evidence for TDP1 as a novel mitochondrial enzyme...
  41. Rao P, Zigler J. Purification and characterization of zeta-crystallin/quinone reductase from guinea pig liver. Biochim Biophys Acta. 1992;1117:315-20 pubmed
    ..Western blot analysis using antibodies raised against zeta-crystallin peptides demonstrated the presence of substantial amounts of this protein in human liver homogenates...
  42. Battey J, Way J, Corjay M, Shapira H, Kusano K, Harkins R, et al. Molecular cloning of the bombesin/gastrin-releasing peptide receptor from Swiss 3T3 cells. Proc Natl Acad Sci U S A. 1991;88:395-9 pubmed
    ..Expression of the GRP receptor cDNA in model systems potentially provides a powerful assay for the development of subtype-specific receptor antagonists that may prove to be of therapeutic importance in human small cell lung carcinoma. ..
  43. Kim Y, Nirenberg M. Drosophila NK-homeobox genes. Proc Natl Acad Sci U S A. 1989;86:7716-20 pubmed
  44. Morioka H, Magnuson M, Mitsuhashi T, Song M, Rall J, Nikodem V. Structural characterization of the rat malic enzyme gene. Proc Natl Acad Sci U S A. 1989;86:4912-6 pubmed
    ..Analysis of the 3' end of the gene showed that the utilization of alternate polyadenylylation signals in exon 14 results in two mRNAs with 3' untranslated regions of 345 and 1345 nucleotides, respectively. ..
  45. Nichols R, Raben N, Boerkoel C, Plotz P. Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension. Gene. 1995;155:299-304 pubmed
    ..Because human IRS has previously been shown to be the target of antibodies in autoimmune disease, we discuss the role of protein structural features in the development of an autoimmune response to IRS. ..
  46. Martin R, Rosner J. Binding of purified multiple antibiotic-resistance repressor protein (MarR) to mar operator sequences. Proc Natl Acad Sci U S A. 1995;92:5456-60 pubmed
    ..Salicylate appears to induce the mar operon by binding to MarR and inhibiting complex formation, whereas tetracycline and chloramphenicol, which neither bind MarR nor inhibit complex formation, must induce by an indirect mechanism. ..
  47. Kawakami Y, Eliyahu S, Delgado C, Robbins P, Rivoltini L, Topalian S, et al. Cloning of the gene coding for a shared human melanoma antigen recognized by autologous T cells infiltrating into tumor. Proc Natl Acad Sci U S A. 1994;91:3515-9 pubmed
    ..Identification of this gene opens possibilities for the development of immunotherapies for patients with melanoma. ..
  48. Macke J, Hu N, Hu S, Bailey M, King V, Brown T, et al. Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation. Am J Hum Genet. 1993;53:844-52 pubmed
    ..The DGGE screen identified two rare amino acid substitutions, ser205-to-arg and glu793-to-asp, the biological significance of which is unknown. ..
  49. Lehn D, Bustin M. Evolutionarily conserved motifs and protein binding elements in the 5' region of the chromosomal protein HMG-14 gene. DNA Cell Biol. 1993;12:753-61 pubmed
    ..Affinity chromatography on columns containing oligonucleotides corresponding to this sequence indicates that this region is a protein binding site. ..
  50. Yamaguchi Iwai Y, Stearman R, Dancis A, Klausner R. Iron-regulated DNA binding by the AFT1 protein controls the iron regulon in yeast. EMBO J. 1996;15:3377-84 pubmed
    ..A regulon of genes under the control of AFT1 could be defined. AFT1 was able to bind to a consensus binding site (PyPuCACCCPu) in the 5' region of FRE1, FRE2, FTR1, FTH1 and CCC2. ..
  51. Tuscano J, Druey K, Riva A, Pena J, Thompson C, Kehrl J. Bcl-x rather than Bcl-2 mediates CD40-dependent centrocyte survival in the germinal center. Blood. 1996;88:1359-64 pubmed
    ..These data suggest that Bcl-x rather than Bcl-2 may rescue centrocytes during selection in the germinal center. ..
  52. Liu J, Nau M, Zucman Rossi J, Powell J, Allegra C, Wright J. LINE-I element insertion at the t(11;22) translocation breakpoint of a desmoplastic small round cell tumor. Genes Chromosomes Cancer. 1997;18:232-9 pubmed
    ..This case represents the first example of LINE-I DNA transposition at the fusion site of a tumor-associated chromosomal rearrangement. ..
  53. Park G, Morasso M. Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes. Nucleic Acids Res. 2002;30:515-22 pubmed
    ..In the hair follicle, where Dlx3 is expressed in the hair matrix cells, BMP-2 also activates Dlx3 transcription. These results provide a possible mechanism of action for the BMP signaling pathway on the regulation of Dlx3. ..
  54. Tayebi N, Stubblefield B, Park J, Orvisky E, Walker J, LaMarca M, et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet. 2003;72:519-34 pubmed
    ..These findings contribute to a better understanding of genotype-phenotype relationships in Gaucher disease and may provide insights into the mechanisms of DNA rearrangement in other disorders. ..
  55. Sand O, Gingras M, Beck N, Hall C, Trun N. Phenotypic characterization of overexpression or deletion of the Escherichia coli crcA, cspE and crcB genes. Microbiology. 2003;149:2107-17 pubmed publisher
    ..7-fold activation of rcsA. These activities were augmented when crcB was overexpressed with cspE (100-fold camphor resistance and 2.1-fold induction of rcsA)...
  56. Stepchenko A, Nirenberg M. Mapping activation and repression domains of the vnd/NK-2 homeodomain protein. Proc Natl Acad Sci U S A. 2004;101:13180-5 pubmed
    ..No effect was detected of the tinman domain or the NK-2-specific domain on either activation or repression of a beta-galactosidase reporter gene. ..
  57. Lewis D, Adhya S. Axiom of determining transcription start points by RNA polymerase in Escherichia coli. Mol Microbiol. 2004;54:692-701 pubmed
    ..The cAMP-CRP complex, which stimulates P1 and represses P2, did not affect the tsp selection process. The rules of tsp selection by RNA polymerase containing sigma70 in gal and pyr promoters discussed here may be applicable to others. ..
  58. Momeni P, Schymick J, Jain S, Cookson M, Cairns N, Greggio E, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006;6:44 pubmed
    ..Confirmation of the pathogenicity of IFT74 sequence variants will require screening of other chromosome 9p-linked families. ..
  59. Savage S, Giri N, Baerlocher G, Orr N, Lansdorp P, Alter B. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008;82:501-9 pubmed publisher
    ..This represents the first shelterin complex mutation linked to human disease and confirms the role of very short telomeres as a diagnostic test for DC. ..
  60. Zhang A, Rosner J, Martin R. Transcriptional activation by MarA, SoxS and Rob of two tolC promoters using one binding site: a complex promoter configuration for tolC in Escherichia coli. Mol Microbiol. 2008;69:1450-5 pubmed publisher
    ..The multiple tolC promoters may allow the cell to respond to diverse environments by co-ordinating tolC transcription with other appropriate functions. ..
  61. Loftus S, Antonellis A, Matera I, Renaud G, Baxter L, Reid D, et al. Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell Melanoma Res. 2009;22:99-110 pubmed publisher
    ..Future analysis of the Gpnmb locus will provide insight into the transcriptional regulation of melanocytes, and Gpnmb expression can be used as a marker for analyzing melanocyte development and disease progression. ..
  62. Samoshkin A, Arnaoutov A, Jansen L, Ouspenski I, Dye L, Karpova T, et al. Human condensin function is essential for centromeric chromatin assembly and proper sister kinetochore orientation. PLoS ONE. 2009;4:e6831 pubmed publisher
  63. Zheng J, Khil P, Camerini Otero R, Przytycka T. Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome. Genome Biol. 2010;11:R103 pubmed publisher
    ..The putative associations we identified may be a promising step toward uncovering the mechanisms of recombination hotspots. ..
  64. Duverger O, Isaac J, Zah A, Hwang J, Berdal A, Lian J, et al. In vivo impact of Dlx3 conditional inactivation in neural crest-derived craniofacial bones. J Cell Physiol. 2013;228:654-64 pubmed publisher
    ..This study provides new downstream targets for Dlx3 in craniofacial bone, and gives additional evidence of the complex regulation of bone formation and homeostasis in the adult skeleton. ..
  65. Biesecker B, Peay H. Genomic sequencing for psychiatric disorders: promise and challenge. Int J Neuropsychopharmacol. 2013;16:1667-72 pubmed publisher
    ..Research into participant/patient perceptions, preferences and outcomes will identify areas of caution and prepare psychiatrists for eventual integration into clinical care. ..
  66. Lu X, Mazur S, Lin T, Appella E, Xu Y. The pluripotency factor nanog promotes breast cancer tumorigenesis and metastasis. Oncogene. 2014;33:2655-64 pubmed publisher
    ..As Nanog is not expressed in most adult tissues, these findings identify Nanog as a potential therapeutic target in the treatment of Nanog-expressing metastatic breast cancer. ..
  67. Hollstein M, Sidransky D, Vogelstein B, Harris C. p53 mutations in human cancers. Science. 1991;253:49-53 pubmed
    ..These differences may reflect the etiological contributions of both exogenous and endogenous factors to human carcinogenesis. ..
  68. Leslie K, Watanabe S, Lei K, Chou D, Plouzek C, Deng H, et al. Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole. Proc Natl Acad Sci U S A. 1990;87:5822-6 pubmed
    ..The coding region of PSG95 is identical to the previously reported cDNA clones PSG1d and FL-NCA, but PSG95 contains an additional 518 and 523 base pairs in the 3' end as compared with PSG1d and FL-NCA, respectively. ..
  69. Iacangelo A, Okayama H, Eiden L. Primary structure of rat chromogranin A and distribution of its mRNA. FEBS Lett. 1988;227:115-21 pubmed
    ..Chromogranin A mRNA is detectable in adrenal medulla, anterior pituitary, cerebral cortex, and hippocampus, as well as tumor cell lines derived from pancreas, pituitary, and adrenal medulla. ..
  70. Ron D, Tronick S, Aaronson S, Eva A. Molecular cloning and characterization of the human dbl proto-oncogene: evidence that its overexpression is sufficient to transform NIH/3T3 cells. EMBO J. 1988;7:2465-73 pubmed
    ..Taken together, these findings indicate that the human proto-dbl represents a new class of cellular oncogenes that may be related to cytoskeletal elements of the cell. ..
  71. Granston A, Nash H. Characterization of a set of integration host factor mutants deficient for DNA binding. J Mol Biol. 1993;234:45-59 pubmed
    ..We discuss the positions of the mutant amino acid residues as they relate to a proposed molecular model of an IHF:DNA complex. ..
  72. Kelley C, Takahashi M, Yu J, Adelstein R. An insert of seven amino acids confers functional differences between smooth muscle myosins from the intestines and vasculature. J Biol Chem. 1993;268:12848-54 pubmed
  73. Ohno H, Poy G, Bonifacino J. Cloning of the gene encoding the murine clathrin-associated adaptor medium chain mu 2: gene organization, alternative splicing and chromosomal assignment. Gene. 1998;210:187-93 pubmed
    ..The isolation and characterization of the mu 2 gene should be instrumental for future studies of the genetics and physiological role of the adaptor medium chains in mammals. ..
  74. Mishima N, Tomarev S. Chicken Eyes absent 2 gene: isolation and expression pattern during development. Int J Dev Biol. 1998;42:1109-15 pubmed
    ..Expression of Eya2 in the wing and limb buds is consistent with its proposed role in the patterning of limb connective tissues. ..
  75. Ren Z, Lin P, Klintworth G, Iwata F, Munier F, Schorderet D, et al. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum Genet. 2002;110:568-77 pubmed
    ..No sequence abnormalities were detected in a single family in which the GDLD locus was also excluded from the M1S1 region by linkage analysis. These findings demonstrate allelic and locus heterogeneity for GDLD. ..
  76. Choi M, Anderson M, Zhang Z, Zimonjic D, Popescu N, Mukherjee A. Neutral ceramidase gene: role in regulating ceramide-induced apoptosis. Gene. 2003;315:113-22 pubmed
    ..We propose that N-CDase is an essential component of an innate detoxifying mechanism to prevent ceramide-induced apoptosis. ..
  77. Ou W, Silver J. Inhibition of murine leukemia virus envelope protein (env) processing by intracellular expression of the env N-terminal heptad repeat region. J Virol. 2005;79:4782-92 pubmed
    ..The results highlight another mechanism by which the N-helix peptides can inhibit fusion. ..
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