메뉴 건너뛰기




Volumn 7, Issue 7, 2011, Pages

Identification of a mutation associated with fatal foal immunodeficiency syndrome in the fell and dales pony

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; ERYTHROPOIESIS; FATALITY; FOAL; FOAL IMMUNODEFICIENCY SYNDROME; GENE; GENE CONTROL; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; HAPLOTYPE MAP; HOMOZYGOSITY; IMMUNE DEFICIENCY; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OSMOTIC STRESS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SODIUM MYOINOSITOL COTRANSPORTER GENE; ANIMAL; B LYMPHOCYTE; CHROMOSOME; CHROMOSOME MAP; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; HORSE; HUMAN; IMMUNOLOGY; METHODOLOGY; MUTATION; PATHOLOGY; SEQUENCE HOMOLOGY;

EID: 79960956223     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002133     Document Type: Article
Times cited : (26)

References (32)
  • 1
    • 0032491964 scopus 로고    scopus 로고
    • A syndrome of anemia, immunodeficiency and peripheral ganglionopathy in Fell pony foals
    • Scholes SF, Holliman A, May PD, Holmes MA, (1998) A syndrome of anemia, immunodeficiency and peripheral ganglionopathy in Fell pony foals. Vet Rec 142 (6): 128-34.
    • (1998) Vet Rec , vol.142 , Issue.6 , pp. 128-134
    • Scholes, S.F.1    Holliman, A.2    May, P.D.3    Holmes, M.A.4
  • 2
    • 0038446599 scopus 로고    scopus 로고
    • Aid to the antemortem diagnosis of Fell pony foal syndrome by the analysis of B lymphocytes
    • Thomas GW, Bell SC, Phythian C, Taylor P, Knottenbelt DC, et al. (2003) Aid to the antemortem diagnosis of Fell pony foal syndrome by the analysis of B lymphocytes. Vet Rec 152 (20): 618-21.
    • (2003) Vet Rec , vol.152 , Issue.20 , pp. 618-621
    • Thomas, G.W.1    Bell, S.C.2    Phythian, C.3    Taylor, P.4    Knottenbelt, D.C.5
  • 3
    • 11844250024 scopus 로고    scopus 로고
    • Immunoglobulin and peripheral B-lymphocyte concentrations in Fell pony foal syndrome
    • Thomas GW, Bell SC, Carter SD, (2005) Immunoglobulin and peripheral B-lymphocyte concentrations in Fell pony foal syndrome. Equine Vet J 37 (1): 48-52.
    • (2005) Equine Vet J , vol.37 , Issue.1 , pp. 48-52
    • Thomas, G.W.1    Bell, S.C.2    Carter, S.D.3
  • 4
    • 0035512018 scopus 로고    scopus 로고
    • An immunodeficiency in Fell ponies: a preliminary study into cellular responses
    • Bell SC, Savidge C, Taylor P, Knottenbelt DC, Carter SD, (2001) An immunodeficiency in Fell ponies: a preliminary study into cellular responses. Equine Vet J 33 (7): 687-92.
    • (2001) Equine Vet J , vol.33 , Issue.7 , pp. 687-692
    • Bell, S.C.1    Savidge, C.2    Taylor, P.3    Knottenbelt, D.C.4    Carter, S.D.5
  • 5
    • 0034404427 scopus 로고    scopus 로고
    • Discriminant and multiple regression analysis of anemia and opportunistic infection in Fell pony foals
    • Dixon JB, Savage M, Wattret A, Taylor P, Ross G, et al. (2000) Discriminant and multiple regression analysis of anemia and opportunistic infection in Fell pony foals. Vet Clin Pathol 29 (3): 84-86.
    • (2000) Vet Clin Pathol , vol.29 , Issue.3 , pp. 84-86
    • Dixon, J.B.1    Savage, M.2    Wattret, A.3    Taylor, P.4    Ross, G.5
  • 7
    • 79960939911 scopus 로고    scopus 로고
    • Immunodeficiency in Fell Ponies
    • PhD thesis:University of Liverpool
    • Thomas GW, (2003) Immunodeficiency in Fell Ponies. PhD thesis:University of Liverpool.
    • (2003)
    • Thomas, G.W.1
  • 8
    • 0031569608 scopus 로고    scopus 로고
    • A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation
    • Shin EK, Perryman LE, Meek K, (1997) A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. J Immunol 158 (8): 3565-9.
    • (1997) J Immunol , vol.158 , Issue.8 , pp. 3565-3569
    • Shin, E.K.1    Perryman, L.E.2    Meek, K.3
  • 9
    • 0029582791 scopus 로고
    • Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity
    • Wiler R, Leber R, Moore BB, VanDyk LF, Perryman LE, et al. (1995) Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity. Proc Natl Acad Sci U S A 92 (25): 11485-9.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , Issue.25 , pp. 11485-11489
    • Wiler, R.1    Leber, R.2    Moore, B.B.3    VanDyk, L.F.4    Perryman, L.E.5
  • 10
    • 0017159422 scopus 로고
    • Alterations of the thymus and other lymphoid tissue in young horses with combined immunodeficiency
    • McGuire TC, Banks KL, Davis WC, (1976) Alterations of the thymus and other lymphoid tissue in young horses with combined immunodeficiency. Am J Pathol 84 (1): 39-54.
    • (1976) Am J Pathol , vol.84 , Issue.1 , pp. 39-54
    • McGuire, T.C.1    Banks, K.L.2    Davis, W.C.3
  • 11
    • 0034169926 scopus 로고    scopus 로고
    • Primary immunodeficiencies of horses
    • vii
    • Perryman LE, (2000) Primary immunodeficiencies of horses. Vet Clin North Am Equine Pract 16 (1): 105-16 vii.
    • (2000) Vet Clin North Am Equine Pract , vol.16 , Issue.1 , pp. 105-116
    • Perryman, L.E.1
  • 12
    • 48749106109 scopus 로고    scopus 로고
    • The crystal structure of a sodium galactose transporter reveals mechanistic insights into Na+/sugar symport
    • Faham S, Watanabe A, Besserer GM, Cascio D, Specht A, et al. (2008) The crystal structure of a sodium galactose transporter reveals mechanistic insights into Na+/sugar symport. Science 321 (5890): 810-4.
    • (2008) Science , vol.321 , Issue.5890 , pp. 810-814
    • Faham, S.1    Watanabe, A.2    Besserer, G.M.3    Cascio, D.4    Specht, A.5
  • 13
    • 78650306568 scopus 로고    scopus 로고
    • The mechanism of sodium and substrate release from the binding pocket of vSGLT
    • Watanabe A, Choe S, Chaptal V, Rosenberg JM, Wright EM, et al. (2010) The mechanism of sodium and substrate release from the binding pocket of vSGLT. Nature 468 (7326): 988-91.
    • (2010) Nature , vol.468 , Issue.7326 , pp. 988-991
    • Watanabe, A.1    Choe, S.2    Chaptal, V.3    Rosenberg, J.M.4    Wright, E.M.5
  • 14
    • 0000882208 scopus 로고
    • Hypothesis about the function of membrane-buried proline residues in transport proteins
    • Brandl CJ, Deber CM, (1986) Hypothesis about the function of membrane-buried proline residues in transport proteins. Proc Natl Acad Sci U S A 83 (4): 917-21.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , Issue.4 , pp. 917-921
    • Brandl, C.J.1    Deber, C.M.2
  • 15
    • 0024826344 scopus 로고
    • Functional consequences of proline mutations in the cytoplasmic and transmembrane sectors of the Ca2(+)-ATPase of sarcoplasmic reticulum
    • Vilsen B, Andersen JP, Clarke DM, MacLennan DH, (1989) Functional consequences of proline mutations in the cytoplasmic and transmembrane sectors of the Ca2(+)-ATPase of sarcoplasmic reticulum. J Biol Chem 264 (35): 21024-30.
    • (1989) J Biol Chem , vol.264 , Issue.35 , pp. 21024-21030
    • Vilsen, B.1    Andersen, J.P.2    Clarke, D.M.3    MacLennan, D.H.4
  • 16
    • 0030048284 scopus 로고    scopus 로고
    • The role of cellular hydration in the regulation of cell function
    • Haussinger D, (1996) The role of cellular hydration in the regulation of cell function. Biochem J 313 (Pt 3): 697-710.
    • (1996) Biochem J , vol.313 , Issue.Pt 3 , pp. 697-710
    • Haussinger, D.1
  • 17
    • 65549125293 scopus 로고    scopus 로고
    • Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5
    • Kino T, Takatori H, Manoli I, Wang Y, Tiulpakov A, et al. (2009) Brx mediates the response of lymphocytes to osmotic stress through the activation of NFAT5. Sci Signal 2 (57): ra5.
    • (2009) Sci Signal , vol.2 , Issue.57
    • Kino, T.1    Takatori, H.2    Manoli, I.3    Wang, Y.4    Tiulpakov, A.5
  • 18
    • 3242674944 scopus 로고    scopus 로고
    • NFAT5/TonEBP mutant mice define osmotic stress as a critical feature of the lymphoid microenvironment
    • Go WY, Liu X, Roti MA, Liu F, Ho SN, (2004) NFAT5/TonEBP mutant mice define osmotic stress as a critical feature of the lymphoid microenvironment. Proc Natl Acad Sci U S A 101 (29): 10673-8.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , Issue.29 , pp. 10673-10678
    • Go, W.Y.1    Liu, X.2    Roti, M.A.3    Liu, F.4    Ho, S.N.5
  • 19
    • 77954876251 scopus 로고    scopus 로고
    • Brx, a link between osmotic stress, inflammation and organ physiology/pathophysiology
    • Kino T, Segars JH, Chrousos GP, (2010) Brx, a link between osmotic stress, inflammation and organ physiology/pathophysiology. Expert Rev Endocrinol. Metab 5 (4): 603-614.
    • (2010) Expert Rev Endocrinol. Metab , vol.5 , Issue.4 , pp. 603-614
    • Kino, T.1    Segars, J.H.2    Chrousos, G.P.3
  • 20
    • 35648982347 scopus 로고    scopus 로고
    • Cellular response to hyperosmotic stresses
    • Burg MB, Ferraris JD, Dmitrieva NI, (2007) Cellular response to hyperosmotic stresses. Physiol Rev 87 (4): 1441-74.
    • (2007) Physiol Rev , vol.87 , Issue.4 , pp. 1441-1474
    • Burg, M.B.1    Ferraris, J.D.2    Dmitrieva, N.I.3
  • 21
    • 0037111409 scopus 로고    scopus 로고
    • The osmoprotective function of the NFAT5 transcription factor in T cell development and activation
    • Trama J, Go WY, Ho SN, (2002) The osmoprotective function of the NFAT5 transcription factor in T cell development and activation. J Immunol 169 (10): 5477-88.
    • (2002) J Immunol , vol.169 , Issue.10 , pp. 5477-5488
    • Trama, J.1    Go, W.Y.2    Ho, S.N.3
  • 22
    • 40449099957 scopus 로고    scopus 로고
    • Analysis of the transcriptional activity of endogenous NFAT5 in primary cells using transgenic NFAT-luciferase reporter mice
    • Morancho B, Minguillon J, Molkentin JD, Lopez-Rodriguez C, Aramburu J, (2008) Analysis of the transcriptional activity of endogenous NFAT5 in primary cells using transgenic NFAT-luciferase reporter mice. BMC Mol Biol 9: 13.
    • (2008) BMC Mol Biol , vol.9 , pp. 13
    • Morancho, B.1    Minguillon, J.2    Molkentin, J.D.3    Lopez-Rodriguez, C.4    Aramburu, J.5
  • 25
    • 0038719771 scopus 로고    scopus 로고
    • Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea
    • Berry GT, Wu S, Buccafusca R, Ren J, Gonzales LW, et al. (2003) Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea. J Biol Chem 278 (20): 18297-302.
    • (2003) J Biol Chem , vol.278 , Issue.20 , pp. 18297-18302
    • Berry, G.T.1    Wu, S.2    Buccafusca, R.3    Ren, J.4    Gonzales, L.W.5
  • 26
    • 27744499742 scopus 로고    scopus 로고
    • Sodium/myo-inositol cotransporter-1 is essential for the development and function of the peripheral nerves
    • Chau JF, Lee MK, Law JW, Chung SK, Chung SS, (2005) Sodium/myo-inositol cotransporter-1 is essential for the development and function of the peripheral nerves. FASEB J 19 (13): 1887-9.
    • (2005) FASEB J , vol.19 , Issue.13 , pp. 1887-1889
    • Chau, J.F.1    Lee, M.K.2    Law, J.W.3    Chung, S.K.4    Chung, S.S.5
  • 27
    • 0033953635 scopus 로고    scopus 로고
    • An economic method for the fluorescent labeling of PCR fragments
    • Schuelke M, (2000) An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 18 (2): 233-4.
    • (2000) Nat Biotechnol , vol.18 , Issue.2 , pp. 233-234
    • Schuelke, M.1
  • 28
    • 33646887766 scopus 로고    scopus 로고
    • Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers
    • Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, et al. (2006) Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet 78 (6): 922-35.
    • (2006) Am J Hum Genet , vol.78 , Issue.6 , pp. 922-935
    • Silberstein, M.1    Tzemach, A.2    Dovgolevsky, N.3    Fishelson, M.4    Schuster, A.5
  • 29
    • 85007110786 scopus 로고    scopus 로고
    • Arlequin (version 3.0): an integrated software package for population genetics data analysis
    • Excoffier L, Laval G, Schneider S, (2005) Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online 1: 47-50.
    • (2005) Evol Bioinform Online , vol.1 , pp. 47-50
    • Excoffier, L.1    Laval, G.2    Schneider, S.3
  • 30
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 (3): 559-75.
    • (2007) Am J Hum Genet , vol.81 , Issue.3 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.