Publications

  1. Brodsky MC, Kotagal S, Pichurin PN, Ho ML. Evidence for Brainstem Motor Nondecussation as a Neurologic Substrate for Periodic Alternating Gaze Deviation. Ophthalmology 2017 Jul; 124 (7):1085-1087 Epub 2017 Apr 28
    View PubMed
  2. Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. Cold Spring Harb Mol Case Stud 2017 May; 3 (3):a001743
    View PubMed
  3. Conboy E, Vairo F, Waggoner D, Ober C, Das S, Dhamija R, Klee EW, Pichurin P. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case Rep Genet 2017; 2017:9184265 Epub 2017 Apr 12
    View PubMed
  4. Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TR, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016 May 05; 98 (5):830-42 Epub 2016 Apr 14
    View PubMed
  5. Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc 2016 Mar; 91 (3):297-307
    View PubMed
  6. Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, Baris HN, Kariv R, Druker H, Chan H, Ling SC, Kortan P, Holter S, Semotiuk K, Malkin D, Farah R, Sayad A, Heald B, Kalady MF, Penney LS, Rideout AL, Rashid M, Hasadsri L, Pichurin P, Riegert-Johnson D, Campbell B, Bakry D, Al-Rimawi H, Alharbi QK, Alharbi M, Shamvil A, Tabori U, Durno C. Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium. Am J Gastroenterol 2016 Feb; 111 (2):275-84 Epub 2016 Jan 05
    View PubMed
  7. Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. PMS2 monoallelic mutation carriers: the known unknown. Genet Med 2016 Jan; 18 (1):13-9 Epub 2015 Apr 09
    View PubMed
  8. Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, Camilleri M. Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic. Neurogastroenterol Motil 2015 Nov; 27 (11):1657-66 Epub 2015 Sept 16
    View PubMed
  9. Wain KE, Ellingson MS, McDonald J, Gammon A, Roberts M, Pichurin P, Winship I, Riegert-Johnson DL, Weitzel JN, Lindor NM. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genet Med 2014 Aug; 16 (8):588-93 Epub 2014 Feb 13
    View PubMed
  10. Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S. Diagnostic exome sequencing identifies two novel iqsec2 mutations associated with x-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis. J Genet Couns. 2014 Jun; 23(3):289-98.
    View PubMed
  11. Toyoda M, Ge S, Suviolahti E, Pichurin P, Shin B, Pao A, Vo A, Deer N, Aguiluz A, Karasyov A, Jordan SC. IFNgamma production by NK cells from HLA-sensitized patients after in vitro exposure to allo-antigens. Transpl Immunol. 2012 Mar; 26(2-3):107-12. Epub 2011 Nov 10.
    View PubMed
  12. McLachlan SM, Aliesky HA, Pichurin PN, Chen CR, Williams RW, Rapoport B. Shared and unique susceptibility genes in a mouse model of Graves' disease determined in BXH and CXB recombinant inbred mice. Endocrinology. 2008 Apr; 149(4):2001-9. Epub 2007 Dec 27.
    View PubMed
  13. McLachlan SM, Nagayama Y, Pichurin PN, Mizutori Y, Chen CR, Misharin A, Aliesky HA, Rapoport B. The link between Graves' disease and Hashimoto's thyroiditis: a role for regulatory T cells. Endocrinology. 2007 Dec; 148(12):5724-33. Epub 2007 Sep 06.
    View PubMed
  14. Pichurin P, Pham N, David CS, Rapoport B, McLachlan SM. HLA-DR3 transgenic mice immunized with adenovirus encoding the thyrotropin receptor: T cell epitopes and functional analysis of the CD40 Graves' polymorphism. Thyroid. 2006 Dec; 16(12):1221-7.
    View PubMed
  15. Aliesky HA, Pichurin PN, Chen CR, Williams RW, Rapoport B, McLachlan SM. Probing the genetic basis for thyrotropin receptor antibodies and hyperthyroidism in immunized CXB recombinant inbred mice. Endocrinology. 2006 Jun; 147(6):2789-800. Epub 2006 Mar 16.
    View PubMed
  16. Pichurin PN, Chen CR, Chazenbalk GD, Aliesky H, Pham N, Rapoport B, McLachlan SM. Targeted expression of the human thyrotropin receptor A-subunit to the mouse thyroid: insight into overcoming the lack of response to A-subunit adenovirus immunization. J Immunol. 2006 Jan 1; 176(1):668-76.
    View PubMed
  17. Guo J, McLachlan SM, Pichurin PN, Chen CR, Pham N, Aliesky HA, David CS, Rapoport B. Relationship between thyroid peroxidase T cell epitope restriction and antibody recognition of the autoantibody immunodominant region in human leukocyte antigen DR3 transgenic mice. Endocrinology. 2005 Nov; 146(11):4961-7. Epub 2005 Aug 04.
    View PubMed
  18. Chazenbalk GD, Pichurin PN, Guo J, Rapoport B, McLachlan SM. Interactions between the mannose receptor and thyroid autoantigens. Clin Exp Immunol. 2005 Feb; 139(2):216-24.
    View PubMed
  19. McLachlan SM, Braley-Mullen H, Chen CR, Aliesky H, Pichurin PN, Rapoport B. Dissociation between iodide-induced thyroiditis and antibody-mediated hyperthyroidism in NOD.H-2h4 mice. Endocrinology. 2005 Jan; 146(1):294-300. Epub 2004 Sep 30.
    View PubMed
  20. Pichurin PN, Chazenbalk GD, Aliesky H, Pichurina O, Rapoport B, McLachlan SM. "Hijacking" the thyrotropin receptor: A chimeric receptor-lysosome associated membrane protein enhances deoxyribonucleic acid vaccination and induces Graves' hyperthyroidism. Endocrinology. 2004 Dec; 145(12):5504-14. Epub 2004 Aug 26.
    View PubMed
  21. Chen CR, Aliesky H, Pichurin PN, Nagayama Y, McLachlan SM, Rapoport B. Susceptibility rather than resistance to hyperthyroidism is dominant in a thyrotropin receptor adenovirus-induced animal model of Graves' disease as revealed by BALB/c-C57BL/6 hybrid mice. Endocrinology. 2004 Nov; 145(11):4927-33. Epub 2004 Jul 29.
    View PubMed
  22. Latrofa F, Chazenbalk GD, Pichurin P, Chen CR, McLachlan SM, Rapoport B. Affinity-enrichment of thyrotropin receptor autoantibodies from Graves' patients and normal individuals provides insight into their properties and possible origin from natural antibodies. J Clin Endocrinol Metab. 2004 Sep; 89(9):4734-45.
    View PubMed
  23. Guo J, Pichurin PN, Morris JC, Rapoport B, McLachlan SM. Naked deoxyribonucleic acid vaccination induces recognition of diverse thyroid peroxidase T cell epitopes. Endocrinology. 2004 Aug; 145(8):3671-8. Epub 2004 May 03.
    View PubMed
  24. Pichurin PN, Chen CR, Nagayama Y, Pichurina O, Rapoport B, McLachlan SM. Evidence that factors other than particular thyrotropin receptor T cell epitopes contribute to the development of hyperthyroidism in murine Graves' disease. Clin Exp Immunol. 2004 Mar; 135(3):391-7.
    View PubMed
  25. Pichurin PN, Pichurina O, Marians RC, Chen CR, Davies TF, Rapoport B, McLachlan SM. Thyrotropin receptor knockout mice: studies on immunological tolerance to a major thyroid autoantigen. Endocrinology. 2004 Mar; 145(3):1294-301. Epub 2003 Nov 20
    View PubMed
  26. Chen CR, Pichurin P, Chazenbalk GD, Aliesky H, Nagayama Y, McLachlan SM, Rapoport B. Low-dose immunization with adenovirus expressing the thyroid-stimulating hormone receptor A-subunit deviates the antibody response toward that of autoantibodies in human Graves' disease. Endocrinology. 2004 Jan; 145(1):228-33. Epub 2003 Oct 23
    View PubMed
  27. Pichurin P, Aliesky H, Chen CR, Nagayama Y, Rapoport B, McLachlan SM. Thyrotrophin receptor-specific memory T cell responses require normal B cells in a murine model of Graves' disease. Clin Exp Immunol. 2003 Dec; 134(3):396-402.
    View PubMed
  28. Pichurin P, Chen CR, Pichurina O, David C, Rapoport B, McLachlan SM. Thyrotropin receptor-DNA vaccination of transgenic mice expressing HLA-DR3 or HLA-DQ6b. Thyroid. 2003 Oct; 13(10):911-7.
    View PubMed
  29. Chen CR, Pichurin P, Nagayama Y, Latrofa F, Rapoport B, McLachlan SM. The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim. J Clin Invest. 2003 Jun; 111(12):1897-904.
    View PubMed
  30. Guo J, Pichurin P, Nagayama Y, Rapoport B, McLachlan SM. Insight into antibody responses induced by plasmid or adenoviral vectors encoding thyroid peroxidase, a major thyroid autoantigen. Clin Exp Immunol. 2003 Jun; 132(3):408-15.
    View PubMed
  31. Schwarz-Lauer L, Pichurin PN, Chen CR, Nagayama Y, Paras C, Morris JC, Rapoport B, McLachlan SM. The cysteine-rich amino terminus of the thyrotropin receptor is the immunodominant linear antibody epitope in mice immunized using naked deoxyribonucleic acid or adenovirus vectors. Endocrinology. 2003 May; 144(5):1718-25.
    View PubMed
  32. Kita-Furuyama M, Nagayama Y, Pichurin P, McLachlan SM, Rapoport B, Eguchi K. Dendritic cells infected with adenovirus expressing the thyrotrophin receptor induce Graves' hyperthyroidism in BALB/c mice. Clin Exp Immunol. 2003 Feb; 131(2):234-40.
    View PubMed
  33. Latrofa F, Pichurin P, Guo J, Rapoport B, McLachlan SM. Thyroglobulin-thyroperoxidase autoantibodies are polyreactive, not bispecific: analysis using human monoclonal autoantibodies. J Clin Endocrinol Metab. 2003 Jan; 88(1):371-8.
    View PubMed
  34. Pichurin PN, Guo J, Estienne V, Carayon P, Ruf J, Rapoport B, McLachlan SM. Evidence that the complement control protein-epidermal growth factor-like domain of thyroid peroxidase lies on the fringe of the immunodominant region recognized by autoantibodies. Thyroid. 2002 Dec; 12(12):1085-95.
    View PubMed
  35. Pichurin P, Schwarz-Lauer L, Braley-Mullen H, Paras C, Pichurina O, Morris JC, Rapoport B, McLachlan SM. Peptide scanning for thyrotropin receptor T-cell epitopes in mice vaccinated with naked DNA. Thyroid. 2002 Sep; 12(9):755-64.
    View PubMed
  36. Chazenbalk GD, Pichurin P, Chen CR, Latrofa F, Johnstone AP, McLachlan SM, Rapoport B. Thyroid-stimulating autoantibodies in Graves disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor. J Clin Invest. 2002 Jul; 110(2):209-17.
    View PubMed
  37. Pichurin P, Pichurina O, Chazenbalk GD, Paras C, Chen CR, Rapoport B, McLachlan SM. Immune deviation away from Th1 in interferon-gamma knockout mice does not enhance TSH receptor antibody production after naked DNA vaccination. Endocrinology. 2002 Apr; 143(4):1182-9.
    View PubMed
  38. Pichurin P, Yan XM, Farilla L, Guo J, Chazenbalk GD, Rapoport B, McLachlan SM. Naked TSH receptor DNA vaccination: A TH1 T cell response in which interferon-gamma production, rather than antibody, dominates the immune response in mice. Endocrinology. 2001 Aug; 142(8):3530-6.
    View PubMed
  39. Pichurin P, Guo J, Yan X, Rapoport B, McLachlan SM. Human monoclonal autoantibodies to B-cell epitopes outside the thyroid peroxidase autoantibody immunodominant region. Thyroid. 2001 Apr; 11(4):301-13.
    View PubMed
  40. Chazenbalk GD, McLachlan SM, Pichurin P, Yan XM, Rapoport B. A prion-like shift between two conformational forms of a recombinant thyrotropin receptor A-subunit module: purification and stabilization using chemical chaperones of the form reactive with Graves' autoantibodies. J Clin Endocrinol Metab. 2001 Mar; 86(3):1287-93.
    View PubMed
  41. Pichurin P, Guo J, Yan X-M, Rapoport B, McLachlan SM. B cell epitopes outside the thyroid peroxidase autoantibody immunodominant region. Thyroid. 2001; 11:301-313.
  42. Pichurin P, Yan X-M, Farilla L, Chazenbalk GD, Rapoport B, McLachlan SM. Naked thyrotropin receptor DNA vaccination: A Th1 T cell response in which interferon-γ production, rather than antibody, dominates the immune response in mice. Endocrinology. 2001; 142:3530-3536.
  43. Yan XM, Guo J, Pichurin P, Tanaka K, Jaume JC, Rapoport B, McLachlan SM. Cytokines, IgG subclasses and costimulation in a mouse model of thyroid autoimmunity induced by injection of fibroblasts co-expressing MHC class II and thyroid autoantigens. Clin Exp Immunol. 2000 Nov; 122(2):170-9.
    View PubMed
  44. Chazenbalk GD, Pichurin P, McLachlan SM, Rapoport B. A direct binding assay for thyrotropin receptor autoantibodies. Thyroid. 1999 Nov; 9(11):1057-61.
    View PubMed