Experts and Doctors on exons in Toronto, Ontario, Canada


Locale: Toronto, Ontario, Canada
Topic: exons

Top Publications

  1. Foussias G, Taylor S, Yousef G, Tropak M, Ordon M, Diamandis E. Cloning and molecular characterization of two splice variants of a new putative member of the Siglec-3-like subgroup of Siglecs. Biochem Biophys Res Commun. 2001;284:887-99 pubmed
  2. Irwin D, Biegel J, Stewart C. Evolution of the mammalian lysozyme gene family. BMC Evol Biol. 2011;11:166 pubmed publisher
    ..Since the lysozyme c and lactalbumin proteins have acquired very different functions during evolution, it is likely that many of the other members of the lysozyme-like family will also have diverse and unexpected biological properties. ..
  3. Ding H, Schertzer M, Wu X, Gertsenstein M, Selig S, Kammori M, et al. Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein. Cell. 2004;117:873-86 pubmed
    ..spretus chromosomes in F1 cells. We conclude that Rtel is an essential gene that regulates telomere length and prevents genetic instability. ..
  4. Thomas G, Forbes J, Roberts E, Walshe J, Cox D. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet. 1995;9:210-7 pubmed
    ..The mutations identified provide an explanation for at least part of the wide phenotypic variation observed in Wilson disease. ..
  5. Gaedigk A, Spielberg S, Grant D. Characterization of the microsomal epoxide hydrolase gene in patients with anticonvulsant adverse drug reactions. Pharmacogenetics. 1994;4:142-53 pubmed
    ..From these observations we conclude that a genetic defect altering the structure and function of the mEH protein is unlikely to be responsible for predisposing patients to anticonvulsant adverse reactions. ..
  6. Weaver I. Epigenetic effects of glucocorticoids. Semin Fetal Neonatal Med. 2009;14:143-50 pubmed publisher
    ..Accordingly, epigenetic modifications in target gene promoters in response to environmental demand may ensure stable yet dynamic regulation that mediates persistent changes in biological and behavioral phenotype over the lifespan. ..
  7. Goard C, Bromberg I, Elliott M, Diamandis E. A consolidated catalogue and graphical annotation of dbSNP polymorphisms in the human tissue kallikrein (KLK) locus. Mol Oncol. 2007;1:303-12 pubmed publisher
    ..Furthermore, "ParSNPs" and "LocusAnnotator" are available at no cost from our website ( to examine other loci. ..
  8. Saltzman A, Kim Y, Pan Q, Fagnani M, Maquat L, Blencowe B. Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay. Mol Cell Biol. 2008;28:4320-30 pubmed publisher
    ..The results further implicate general spliceosomal components in AS regulation. ..
  9. Fadaee M, Kariminejad A, Fattahi Z, Nafissi S, Godarzi H, Beheshtian M, et al. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. Neuromuscul Disord. 2016;26:277-82 pubmed publisher
    ..2257delGinsAA, and c.2380?+?2T?>?G). Our findings indicate that exome sequencing can be a very effective and affordable method to diagnose heterogeneous muscular dystrophies, especially in consanguineous populations such as Iran. ..

More Information


  1. Wei K, Eubanks J, Francis J, Jia Z, Snead O. Cloning and tissue distribution of a novel isoform of the rat GABA(B)R1 receptor subunit. Neuroreport. 2001;12:833-7 pubmed
  2. Zai C, Tiwari A, Basile V, De Luca V, Muller D, King N, et al. Association study of tardive dyskinesia and five DRD4 polymorphisms in schizophrenia patients. Pharmacogenomics J. 2009;9:168-74 pubmed publisher
    ..This study suggests that DRD4 may be involved in TD in the Caucasian population, although further replication studies are needed. ..
  3. Zai G, King N, Wong G, Barr C, Kennedy J. Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia. Eur Neuropsychopharmacol. 2005;15:347-52 pubmed
    ..310, P = 0.038) and a trend was observed between the genotype frequency (chi2 = 4.970, 2 df, P = 0.083) of SCZ individuals and controls. Further investigations of the role of GABBR1 in SCZ are warranted. ..
  4. Xu C, Li P, Cooke R, Parikh S, Wang K, Kennedy J, et al. TRPM2 variants and bipolar disorder risk: confirmation in a family-based association study. Bipolar Disord. 2009;11:1-10 pubmed publisher
    ..Overtransmission of the G allele of rs1556314 at exon 11 of TRPM2 in BD-I but not bipolar disorder type II (BD-II) further supports different genetic contributions to the pathogenesis of these bipolar phenotypes. ..
  5. D Souza V, Nguyen T, Morris G, Karges W, Pillers D, Ray P. A novel dystrophin isoform is required for normal retinal electrophysiology. Hum Mol Genet. 1995;4:837-42 pubmed
    ..Comparison of retinal electrophysiology in mdx and mdxCv3 mouse suggests that Dp260 is required for normal retinal function. ..
  6. van Bakel H, Nislow C, Blencowe B, Hughes T. Most "dark matter" transcripts are associated with known genes. PLoS Biol. 2010;8:e1000371 pubmed publisher
    ..We conclude that, while there are bona fide new intergenic transcripts, their number and abundance is generally low in comparison to known exons, and the genome is not as pervasively transcribed as previously reported. ..
  7. Cameron J, Janer A, Levandovskiy V, Mackay N, Rouault T, Tong W, et al. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011;89:486-95 pubmed publisher
    ..Our results demonstrate that both play essential roles in the production of [Fe-S] centers for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the respiratory chain complexes. ..
  8. Phillips M, Fujii J, Khanna V, DeLeon S, Yokobata K, de Jong P, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996;34:24-41 pubmed
    ..Knowledge of the structure of the RYR1 gene will provide an invaluable resource for the discovery of mutations in the gene that are causal of human malignant hyperthermia and central core disease. ..
  9. Billingsley G, Santhiya S, Paterson A, Ogata K, Wodak S, Hosseini S, et al. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006;79:702-9 pubmed
    ..Protein folding would consequently be impaired, most probably leading to a structure with reduced stability in the mutant. This is the first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia...
  10. Yousef G, Scorilas A, Jung K, Ashworth L, Diamandis E. Molecular cloning of the human kallikrein 15 gene (KLK15). Up-regulation in prostate cancer. J Biol Chem. 2001;276:53-61 pubmed
    ..KLK15 up-regulation was found to be associated with more aggressive forms of prostate cancer. This newly discovered gene has the potential of being used as a diagnostic and/or prognostic marker for prostate cancer. ..
  11. Hosseini S, Herd S, Vincent A, Heon E. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis. 2008;14:71-80 pubmed
    ..As part of the analysis, the expression profile, transcript variants, and evolutionary conserved regions of VSX1, a key candidate gene within the linkage interval, were characterized...
  12. Kwan J, Donaldson L. The NMR structure of the murine DLC2 SAM domain reveals a variant fold that is similar to a four-helix bundle. BMC Struct Biol. 2007;7:34 pubmed
    ..The DLC2-SAM domain adopts a structure that is topologically more similar to an anti-parallel four-helix bundle than a canonical SAM domain. This alternate topology may allow the DLC2-SAM domain to interact with a novel set of ligands. ..
  13. Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens J, et al. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991;10:229-35 pubmed
  14. Lorenzo M, Khan R, Wang Y, Tai S, Chan G, Cheung A, et al. Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization. Biochim Biophys Acta. 2001;1522:46-52 pubmed
  15. Scorilas A, Chiang P, Katsaros D, Yousef G, Diamandis E. Molecular characterization of a new gene, CEAL1, encoding for a carcinoembryonic antigen-like protein with a highly conserved domain of eukaryotic translation initiation factors. Gene. 2003;310:79-89 pubmed
    ..The CEAL1 gene was found to be down-regulated by dexamethasone in BT-474 breast cancer cell lines. Our data suggest that this gene is overexpressed in a subset of ovarian cancers which are clinically more aggressive. ..
  16. Luo L, Soosaipillai A, Diamandis E. Molecular cloning of a novel human gene on chromosome 4p11 by immunoscreening of an ovarian carcinoma cDNA library. Biochem Biophys Res Commun. 2001;280:401-6 pubmed
    ..The high level expression of the shorter form is restricted to the central nervous system, including brain, cerebellum, and spinal cord, suggesting that this form may have a unique function in the central nervous system. ..
  17. Chen B, Rigat B, Curry C, Mahuran D. Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am J Hum Genet. 1999;65:77-87 pubmed
  18. Maegawa G, Poplawski N, Andresen B, Olpin S, Nie G, Clarke J, et al. Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay. Am J Med Genet A. 2008;146A:1581-6 pubmed publisher
    ..This is the first report of a patient with fatty acid oxidation defect caused by a mutation in combination with an interstitial chromosomal deletion. ..
  19. Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008;82:1011-8 pubmed publisher
    ..Identifying the function of CC2D2A, and a possible common pathway with CC2D1A, in correct neuronal development and functioning may help identify possible therapeutic targets for MR. ..
  20. Niedzielski M, Hopewell R, Ismail Z, Estable M. MCEF is localized to the nucleus by protein sequences encoded within three distinct exons, where it represses HIV-1 Tat-transactivation of LTR-directed transcription. Int J Biol Sci. 2007;3:225-36 pubmed
    ..We suggest that portions of MCEF could be exploited for chimeric transcription factor repression (CTFR) of HIV-1. ..
  21. Ehsani S, Tao R, Pocanschi C, Ren H, Harrison P, Schmitt Ulms G. Evidence for retrogene origins of the prion gene family. PLoS ONE. 2011;6:e26800 pubmed publisher
    ..We document that similar genomic insertions involving ZIP transcripts, and probably relying on retropositional elements, have indeed occurred more than once throughout evolution. ..
  22. Yousef G, Ordon M, Foussias G, Diamandis E. Genomic organization of the siglec gene locus on chromosome 19q13.4 and cloning of two new siglec pseudogenes. Gene. 2002;286:259-70 pubmed
    ..The cytoplasmic domain is always encoded by two exons. We further identified two new Siglec pseudogenes in this locus, and analyzed their tissue expression pattern and their structural features. ..
  23. Binkley K, King N, Poonai N, Seeman P, Ulpian C, Kennedy J. Idiopathic environmental intolerance: increased prevalence of panic disorder-associated cholecystokinin B receptor allele 7. J Allergy Clin Immunol. 2001;107:887-90 pubmed
  24. Misquitta Ali C, Cheng E, O Hanlon D, Liu N, McGlade C, Tsao M, et al. Global profiling and molecular characterization of alternative splicing events misregulated in lung cancer. Mol Cell Biol. 2011;31:138-50 pubmed publisher
    ..The results thus reveal widespread AS changes in NSCLC that impact cell signaling in a manner that likely contributes to tumorigenesis. ..
  25. Fan X, Zhang H, Zhang S, Bagshaw R, Tropak M, Callahan J, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet. 2006;79:738-44 pubmed
    ..Mutational analyses of two MPS IIIC cell lines identified a splice-junction mutation that accounted for three mutant alleles, and a single base-pair insertion accounted for the fourth. ..
  26. Mociornita A, Lim Shon J, Joseph J, Ross H, Rao V, Delgado D. Can HLA-G polymorphisms predict the development of cardiac allograft vasculopathy?. Hum Immunol. 2013;74:464-7 pubmed publisher
    ..55). HLA-G polymorphism appears to play an important role as a genetic indicator for cellular rejection post-transplant; however, it is not a reliable marker to identify patients at risk of CAV. ..
  27. Martin A, Tsui H, Shulman M, Isenman D, Tsui F. Murine SHP-1 splice variants with altered Src homology 2 (SH2) domains. Implications for the SH2-mediated intramolecular regulation of SHP-1. J Biol Chem. 1999;274:21725-34 pubmed
    ..e. SHP-1 was globular and resistant to proteolytic digestion, while the splice variant protein was "rod-shaped" and more susceptible to proteolytic digestion. ..
  28. Sinasac D, Crackower M, Lee J, Kobayashi K, Saheki T, Scherer S, et al. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics. 1999;62:289-92 pubmed
    ..5). At E13.5 expression of Slc25a13 is most predominant in epithelial structures, in addition to the forebrain, kidney, and liver...
  29. Yip B, Chen S, Mulder H, Hoppener J, Schachter H. Organization of the human beta-1,2-N-acetylglucosaminyltransferase I gene (MGAT1), which controls complex and hybrid N-glycan synthesis. Biochem J. 1997;321 ( Pt 2):465-74 pubmed
    ..It is concluded that MGAT1 is a typical housekeeping gene although there is, in addition, tissue-specific expression of the larger 3.1 kb transcript. ..
  30. Muise A, Walters T, Wine E, Griffiths A, Turner D, Duerr R, et al. Protein-tyrosine phosphatase sigma is associated with ulcerative colitis. Curr Biol. 2007;17:1212-8 pubmed
    ..We propose that polymorphisms in the human PTPRS gene lead to ulcerative colitis. ..
  31. Hakem R, de la Pompa J, Sirard C, Mo R, Woo M, Hakem A, et al. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell. 1996;85:1009-23 pubmed
    ..Thus, the death of Brca1(5-6) mutant embryos prior to gastrulation may be due to a failure of the proliferative burst required for the development of the different germ layers. ..
  32. Neote K, Bapat B, Dumbrille Ross A, Troxel C, Schuster S, Mahuran D, et al. Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase. Genomics. 1988;3:279-86 pubmed
    ..There are also sequences related or identical to a progesterone response element and an AP-1 binding motif. ..
  33. Foussias G, Yousef G, Diamandis E. Molecular characterization of a Siglec8 variant containing cytoplasmic tyrosine-based motifs, and mapping of the Siglec8 gene. Biochem Biophys Res Commun. 2000;278:775-81 pubmed
  34. Zogopoulos G, Jorgensen C, Bacani J, Montpetit A, Lepage P, Ferretti V, et al. Germline EPHB2 receptor variants in familial colorectal cancer. PLoS ONE. 2008;3:e2885 pubmed publisher
    ..Rare germline EPHB2 variants may contribute to a small fraction of hereditary colorectal cancer. ..
  35. Chen Z, Ma X, Zhang J, Hu J, Gorczynski R. Alternative splicing of CD200 is regulated by an exonic splicing enhancer and SF2/ASF. Nucleic Acids Res. 2010;38:6684-96 pubmed publisher
    ..Taken together, our data suggest for the first time that SF2/ASF regulates the function of CD200 by controlling CD200 alternative splicing, through direct binding to an ESE located in exon 2 of CD200. ..
  36. Bentov Y, Kenigsberg S, Casper R. A novel luteinizing hormone/chorionic gonadotropin receptor mutation associated with amenorrhea, low oocyte yield, and recurrent pregnancy loss. Fertil Steril. 2012;97:1165-8 pubmed publisher
    ..To study the cause for poor oocyte yield, amenorrhea, and recurrent pregnancy loss in a patient undergoing IVF...
  37. Simons R, Riordan J. Single base substitution in codon 74 of the MD rat myelin proteolipid protein gene. Ann N Y Acad Sci. 1990;605:146-54 pubmed
    ..Disruption of these structures apparently has severe consequences for the ability of PLP to contribute normally to myelination. ..
  38. Feng Y, Crosbie J, Wigg K, Pathare T, Ickowicz A, Schachar R, et al. The SNAP25 gene as a susceptibility gene contributing to attention-deficit hyperactivity disorder. Mol Psychiatry. 2005;10:998-1005, 973 pubmed
    ..Our findings continue to support SNAP25 in the susceptibility to ADHD. ..
  39. Botelho R, DiNicolo L, Tsao N, Karaiskakis A, Tarsounas M, Moens P, et al. The genomic structure of SYCP3, a meiosis-specific gene encoding a protein of the chromosome core. Biochim Biophys Acta. 2001;1518:294-9 pubmed
    ..In mouse and rat, but not in hamster, the putative translation start of SYCP3 is present in the first exon. The putative promoter of SYCP3 was also cloned and shown to drive transcription of a reporter gene in somatic cells. ..
  40. Scorilas A, Kyriakopoulou L, Katsaros D, Diamandis E. Cloning of a gene (SR-A1), encoding for a new member of the human Ser/Arg-rich family of pre-mRNA splicing factors: overexpression in aggressive ovarian cancer. Br J Cancer. 2001;85:190-8 pubmed
    ..Furthermore, the mRNA of the SR-A1 gene in these cell lines appears to increase by estrogens, androgens and glucocorticoids, and to a lesser extend by progestins. ..
  41. Yousef G, Diamandis M, Jung K, Diamandis E. Molecular cloning of a novel human acid phosphatase gene (ACPT) that is highly expressed in the testis. Genomics. 2001;74:385-95 pubmed
    ..Our preliminary results indicate that this gene exhibits a lower level of expression in testicular cancer tissues than in their normal counterparts. ..
  42. Zhang M, Xi Z, Fang S, Ghani M, Sato C, Moreno D, et al. Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease. Neurobiol Aging. 2016;38:217.e7-217.e8 pubmed publisher
    ..Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients. ..
  43. Colak R, Kim T, Michaut M, Sun M, Irimia M, Bellay J, et al. Distinct types of disorder in the human proteome: functional implications for alternative splicing. PLoS Comput Biol. 2013;9:e1003030 pubmed publisher
  44. Lionel A, Vaags A, Sato D, Gazzellone M, Mitchell E, Chen H, et al. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet. 2013;22:2055-66 pubmed publisher
    ..Our data also add to the accumulating evidence implicating neuronal synaptic gene products as key molecular factors underlying the etiologies of a diverse range of neurodevelopmental conditions. ..
  45. Aznarez I, Chan E, Zielenski J, Blencowe B, Tsui L. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet. 2003;12:2031-40 pubmed
    ..Taken together, our results suggest that the severity of CF disease could be modulated by changes in the fidelity of CFTR pre-mRNA splicing. ..
  46. Scorilas A, Yousef G, Jung K, Rajpert De Meyts E, Carsten S, Diamandis E. Identification and characterization of a novel human testis-specific kinase substrate gene which is downregulated in testicular tumors. Biochem Biophys Res Commun. 2001;285:400-8 pubmed
    ..These observations suggest a role of TSKS in testicular physiology, most probably in the process of spermatogenesis or spermiogenesis. ..
  47. Carbone M, Mackay N, Ling M, Cole D, Douglas C, Rigat B, et al. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet. 1998;62:1312-9 pubmed
    ..These data provide the first characterization of the human PC gene structure, the identification of common pathogenic mutations, and the demonstration of a founder effect in the Ojibwa and Cree patients...
  48. McCracken S, Longman D, Johnstone I, Caceres J, Blencowe B. An evolutionarily conserved role for SRm160 in 3'-end processing that functions independently of exon junction complex formation. J Biol Chem. 2003;278:44153-60 pubmed
    ..Our combined results provide evidence for an evolutionarily conserved interaction between SRm160 and the 3'-end cleavage machinery that functions independently of EJC formation. ..
  49. Yee K, Moore S, Midmer M, Zanke B, Tong F, Hedley D, et al. NKIAMRE, a novel conserved CDC2-related kinase with features of both mitogen-activated protein kinases and cyclin-dependent kinases. Biochem Biophys Res Commun. 2003;308:784-92 pubmed
    ..NKIAMRE is a member of a conserved family of kinases with homology to both MAP kinases and cyclin-dependent kinases. ..
  50. Sidiropoulos M, Pampalakis G, Sotiropoulou G, Katsaros D, Diamandis E. Downregulation of human kallikrein 10 (KLK10/NES1) by CpG island hypermethylation in breast, ovarian and prostate cancers. Tumour Biol. 2005;26:324-36 pubmed
  51. Blencowe B. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci. 2000;25:106-10 pubmed
    ..Ominously, these latter studies predict that many human genetic diseases linked to mutations within exons might be caused by the inactivation of ESEs. ..
  52. Miao M, Stahl R, Petersen L, Reintsch W, Davis E, Keeley F. Characterization of an unusual tropoelastin with truncated C-terminus in the frog. Matrix Biol. 2009;28:432-41 pubmed publisher
    ..We demonstrate that, in spite of the absence of these motifs, both frog tropoelastin genes are expressed and incorporated into the elastic matrix, although with differential tissue localizations...
  53. Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, et al. Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. J Rheumatol. 2008;35:920-6 pubmed
    ..Early-onset polyarticular OA may occur in adults without a known or obvious underlying skeletal dysplasia. This study provides an approach to the diagnosis of an underlying skeletal dysplasia in such individuals. ..
  54. Wang Y, Newton D, Robb G, Kau C, Miller T, Cheung A, et al. RNA diversity has profound effects on the translation of neuronal nitric oxide synthase. Proc Natl Acad Sci U S A. 1999;96:12150-5 pubmed
    ..Highly structured nNOS mRNA 5'-untranslated regions, which have profound effects on translation both in vitro and in cells, contain cis RNA elements that modulate translational efficiency in response to changes in cellular phenotype. ..
  55. Roux A, Rommens J, McDowell C, Anson Cartwright L, Bell S, Schappert K, et al. Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex. Hum Mol Genet. 1994;3:257-63 pubmed
    ..Analysis of a dinucleotide repeat polymorphism within this gene in families affected with RP3 suggested refinement of the RP3 region. ..
  56. Vincent J, Herbrick J, Gurling H, Bolton P, Roberts W, Scherer S. Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet. 2000;67:510-4 pubmed
    ..Apparent homologues of RAY1 have also been identified in mouse, rat, pig, chicken, fruit fly, and nematode. The human and mouse genes share similar splicing patterns, and their predicted protein products are 98% identical. ..
  57. Wong J, Alon N, McKerlie C, Huang J, Meyn M, Buchwald M. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. Hum Mol Genet. 2003;12:2063-76 pubmed
    ..Taken together, our results suggest that the FA pathway plays a role in the maintenance of reproductive germ cells and in meiotic recombination. ..
  58. Dalal I, Grunebaum E, Cohen A, Roifman C. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet. 2001;59:430-7 pubmed
    ..Both mutations predict severely truncated proteins resulting in a complete deficiency of PNP enzymatic activity, yet the development of profound immunodeficiency in this patient is greatly delayed. ..
  59. Gaedigk R, Karges W, Hui M, Scherer S, Dosch H. Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. Genomics. 1996;38:382-91 pubmed
    ..All splice variants encode the conserved T-cell epitope (in exon 2) recognized by autoreactive T cells in diabetic children and diabetes-prone NOD mice. ..
  60. Alli Z, Ho M, Ackerley C, Abdelhaleem M. Characterization of murine Dhx32. Exp Mol Pathol. 2007;83:115-8 pubmed
    ..Finally, electron microscope immunocytochemistry detected the presence of Dhx32 in the mitochondria of hepatocytes. ..
  61. Zhang S, Chang M, Zylka D, Turley S, Harrison R, Turley E. The hyaluronan receptor RHAMM regulates extracellular-regulated kinase. J Biol Chem. 1998;273:11342-8 pubmed
    ..Consistent with this, overexpression of RHAMMv4 constitutively activates ERK. These results identify a novel mechanism for the regulation of the Ras-ERK signaling pathway and suggest that RHAMM plays multiple roles in this regulation. ..
  62. Wells T, Zhang G, Harley Z, Vaziri H. Genetic hypervariability in two distinct deuterostome telomerase reverse transcriptase genes and their early embryonic functions. Mol Biol Cell. 2009;20:464-80 pubmed publisher
    ..Identification of these unique hypervariable telomerases also suggests presence of a diversity generation mechanism that inculcates hypervariable telomerases and telomere lengths in germline. ..
  63. Sheikh T, Mittal K, Willis M, Vincent J. A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. Orphanet J Rare Dis. 2013;8:108 pubmed publisher
    ..These findings suggest that synonymous variants of MECP2 as well as other known disease genes-and de novo variants in particular- should be re-evaluated for potential effects on splicing. ..
  64. Frey B, Mohammad N, Morris Q, Zhang W, Robinson M, Mnaimneh S, et al. Genome-wide analysis of mouse transcripts using exon microarrays and factor graphs. Nat Genet. 2005;37:991-6 pubmed
    ..GenRate also detected tens of thousands of potential new exons and reconciled discrepancies in current cDNA databases by 'stitching' new transcribed regions into previously annotated genes. ..
  65. Malhotra S, Hart K, Klamut H, Thomas N, Bodrug S, Burghes A, et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science. 1988;242:755-9 pubmed
    ..In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested. ..
  66. Krieger J, Taylor P, Gajadhar A, Guha A, Moran M, McGlade C. Identification and selected reaction monitoring (SRM) quantification of endocytosis factors associated with Numb. Mol Cell Proteomics. 2013;12:499-514 pubmed publisher
    ..Hence, quantitative mass spectrometric analysis of Numb protein-protein interactions has provided new insights into the assembly and regulation of protein complexes important in development and cancer. ..
  67. Mizrahi R, Rusjan P, Kennedy J, Pollock B, Mulsant B, Suridjan I, et al. Translocator protein (18?kDa) polymorphism (rs6971) explains in-vivo brain binding affinity of the PET radioligand [(18)F]-FEPPA. J Cereb Blood Flow Metab. 2012;32:968-72 pubmed publisher
    ..Testing for the rs6971 polymorphism may allow quantitative interpretation of TSPO PET studies with new generation of TSPO PET radioligands. ..
  68. Cheung A, Horvath L, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, et al. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet. 2011;20:2103-15 pubmed publisher
    ..Analysis of isogenic control and mutant hiPS cell-derived neurons represents a promising source for understanding the pathogenesis of RTT and the role of MECP2 in human neurons. ..
  69. Eppert K, Wunder J, Aneliunas V, Tsui L, Scherer S, Andrulis I. Altered expression and deletion of RMO1 in osteosarcoma. Int J Cancer. 2005;114:738-46 pubmed
    ..Northern blot analysis indicated that RMO1 mRNA is ubiquitously expressed in tissues except for peripheral blood leukocytes. These data suggest that RMO1 may be a candidate for a protein involved in inhibiting tumor progression. ..
  70. Iwasaki K, Bajenova E, Somogyi Ganss E, Miller M, Nguyen V, Nourkeyhani H, et al. Amelotin--a Novel Secreted, Ameloblast-specific Protein. J Dent Res. 2005;84:1127-32 pubmed
    ..Amelotin protein was efficiently secreted from transfected cells in culture. Taken together, our findings suggest that amelotin is a novel factor produced by ameloblasts that plays a critical role in the formation of dental enamel. ..
  71. Lee S, Lee J, Li K, Holland D, Maughan H, Guttman D, et al. Disruption of the murine Glp2r impairs Paneth cell function and increases susceptibility to small bowel enteritis. Endocrinology. 2012;153:1141-51 pubmed publisher
    ..Although the Glp2r is dispensable for gut development and the response to colonic injury, Glp2r(-/-) mice exhibit enhanced sensitivity to small bowel injury, and abnormal host-bacterial interactions in the small bowel. ..
  72. Bulman D, Gangopadhyay S, Bebchuck K, Worton R, Ray P. Point mutation in the human dystrophin gene: identification through western blot analysis. Genomics. 1991;10:457-60 pubmed
    ..This is the first reported case of a point mutation in this very large human gene. ..
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