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Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.

Hubert F.X., Kinkel S.A., Crewther P.E., Cannon P.Z., Webster K.E., Link M., Uibo R., O'Bryan M.K., Meager A., Forehan S.P. et al.

J. Immunol. 182:3902-3918(2009) · Mapped (7)

Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice.

Milicevic N.M., Milicevic Z., Miljkovic M.D., Labudovic-Borovic M., Laan M., Peterson P., Kisand K., Scott H.S., Qu N., Westermann J.

Histochem. Cell Biol. 131:643-649(2009) · Mapped (4)

Hematopoietic defects in the Ts1Cje mouse model of Down syndrome.

Carmichael C.L., Majewski I.J., Alexander W.S., Metcalf D., Hilton D.J., Hewitt C.A., Scott H.S.

Blood 113:1929-1937(2009) · Mapped (3)

NKT cell development in the absence of the autoimmune regulator gene (Aire).

Pitt L.A., Hubert F.X., Scott H.S., Godfrey D.I., Berzins S.P.

Eur. J. Immunol. 38:2689-2696(2008) · Mapped (5)

Autoantigen-specific interactions with CD4+ thymocytes control mature medullary thymic epithelial cell cellularity.

Irla M., Hugues S., Gill J., Nitta T., Hikosaka Y., Williams I.R., Hubert F.X., Scott H.S., Takahama Y., Hollander G.A. et al.

Immunity 29:451-463(2008) · Mapped (28)

Integrative analysis of RUNX1 downstream pathways and target genes.

Michaud J., Simpson K.M., Escher R., Buchet-Poyau K., Beissbarth T., Carmichael C., Ritchie M.E., Schutz F., Cannon P., Liu M. et al.

BMC Genomics 9:363-363(2008) · Mapped (8)

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes.

Kisand K., Link M., Wolff A.S., Meager A., Tserel L., Org T., Murumagi A., Uibo R., Willcox N., Trebusak Podkrajsek K. et al.

Blood 112:2657-2666(2008) · Mapped (2)

The lymphotoxin pathway regulates Aire-independent expression of ectopic genes and chemokines in thymic stromal cells.

Seach N., Ueno T., Fletcher A.L., Lowen T., Mattesich M., Engwerda C.R., Scott H.S., Ware C.F., Chidgey A.P., Gray D.H. et al.

J. Immunol. 180:5384-5392(2008) · Mapped (5)

Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input.

White A.J., Withers D.R., Parnell S.M., Scott H.S., Finke D., Lane P.J., Jenkinson E.J., Anderson G.

Eur. J. Immunol. 38:942-947(2008) · Mapped (44)

Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.

Alimohammadi M., Bjorklund P., Hallgren A., Pontynen N., Szinnai G., Shikama N., Keller M.P., Ekwall O., Kinkel S.A., Husebye E.S. et al.

N. Engl. J. Med. 358:1018-1028(2008) · Mapped (1)

A specific anti-Aire antibody reveals aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery.

Hubert F.X., Kinkel S.A., Webster K.E., Cannon P., Crewther P.E., Proeitto A.I., Wu L., Heath W.R., Scott H.S.

J. Immunol. 180:3824-3832(2008) · Mapped (5)

Expression of Aire and the early wave of apoptosis in spermatogenesis.

Schaller C.E., Wang C.L., Beck-Engeser G., Goss L., Scott H.S., Anderson M.S., Wabl M.

J. Immunol. 180:1338-1343(2008) · Mapped (5)

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Guipponi M., Antonarakis S.E., Scott H.S.

Front. Biosci. 13:1557-1567(2008) · Mapped (3)

AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity.

Ferguson B.J., Alexander C., Rossi S.W., Liiv I., Rebane A., Worth C.L., Wong J., Laan M., Peterson P., Jenkinson E.J. et al.

J. Biol. Chem. 283:1723-1731(2008) · Mapped (7)

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.

Guipponi M., Toh M.-Y., Tan J., Park D., Hanson K., Ballana E., Kwong D., Cannon P.Z.F., Wu Q., Gout A. et al.

Hum. Mutat. 29:130-141(2008) · UniProtKB (4)

Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients.

Butcher C.M., Hahn U., To L.B., Gecz J., Wilkins E.J., Scott H.S., Bardy P.G., D'Andrea R.J.

Leukemia 22:870-873(2008) · Mapped (6)

Redefining epithelial progenitor potential in the developing thymus.

Rossi S.W., Chidgey A.P., Parnell S.M., Jenkinson W.E., Scott H.S., Boyd R.L., Jenkinson E.J., Anderson G.

Eur. J. Immunol. 37:2411-2418(2007) · Mapped (1)

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.

Guipponi M., Tan J., Cannon P.Z., Donley L., Crewther P., Clarke M., Wu Q., Shepherd R.K., Scott H.S.

Am. J. Pathol. 171:608-616(2007) · Mapped (3)

Modulation of Aire regulates the expression of tissue-restricted antigens.

Kont V., Laan M., Kisand K., Merits A., Scott H.S., Peterson P.

Mol. Immunol. 45:25-33(2008) · Mapped (24)

RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla.

Rossi S.W., Kim M.Y., Leibbrandt A., Parnell S.M., Jenkinson W.E., Glanville S.H., McConnell F.M., Scott H.S., Penninger J.M., Jenkinson E.J. et al.

J. Exp. Med. 204:1267-1272(2007) · Mapped (8)

Modifiers of epigenetic reprogramming show paternal effects in the mouse.

Chong S., Vickaryous N., Ashe A., Zamudio N., Youngson N., Hemley S., Stopka T., Skoultchi A., Matthews J., Scott H.S. et al.

Nat. Genet. 39:614-622(2007) · Mapped (9)

Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin.

Hamazaki Y., Fujita H., Kobayashi T., Choi Y., Scott H.S., Matsumoto M., Minato N.

Nat. Immunol. 8:304-311(2007) · Mapped (7)

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.

Webster K.E., O'Bryan M.K., Fletcher S., Crewther P.E., Aapola U., Craig J., Harrison D.K., Aung H., Phutikanit N., Lyle R. et al.

Proc. Natl. Acad. Sci. U.S.A. 102:4068-4073(2005) · Mapped (2)

Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

Liston A., Gray D.H., Lesage S., Fletcher A.L., Wilson J., Webster K.E., Scott H.S., Boyd R.L., Peltonen L., Goodnow C.C.

J. Exp. Med. 200:1015-1026(2004) · Mapped (5)

Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia.

Escher R., Muhlematter D., Scott H.S., Jotterand M., Tobler A.

Haematologica 89:ECR26-ECR26(2004) · Mapped (4)

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