1 - 25 of 30 results for author:"Puck J.M." in Literature citations
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| Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. Punwani D., Simon K., Choi Y., Dutra A., Gonzalez-Espinosa D., Pak E., Naradikian M., Song C.H., Zhang J., Bodine D.M. et al. J. Immunol. 189:1253-1264(2012) · Mapped (4) |
| IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo. Recher M., Berglund L.J., Avery D.T., Cowan M.J., Gennery A.R., Smart J., Peake J., Wong M., Pai S.Y., Baxi S. et al. Blood 118:6824-6835(2011) · Mapped (16) |
| Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening. Dasouki M., Okonkwo K.C., Ray A., Folmsbeel C.K., Gozales D., Keles S., Puck J.M., Chatila T. Clin. Immunol. 141:128-132(2011) · Mapped (7) |
| Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. Walter J.E., Rucci F., Patrizi L., Recher M., Regenass S., Paganini T., Keszei M., Pessach I., Lang P.A., Poliani P.L. et al. J. Exp. Med. 207:1541-1554(2010) · Mapped (15) |
| Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. Woellner C., Gertz E.M., Schaffer A.A., Lagos M., Perro M., Glocker E.O., Pietrogrande M.C., Cossu F., Franco J.L., Matamoros N. et al. J. Allergy Clin. Immunol. 125:424-432.e8(2010) · Mapped (7) |
| Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. Engelhardt K.R., McGhee S., Winkler S., Sassi A., Woellner C., Lopez-Herrera G., Chen A., Kim H.S., Lloret M.G., Schulze I. et al. J. Allergy Clin. Immunol. 124:1289-302.e4(2009) · Mapped (7) |
| The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency. Shiow L.R., Roadcap D.W., Paris K., Watson S.R., Grigorova I.L., Lebet T., An J., Xu Y., Jenne C.N., Foger N. et al. Nat. Immunol. 9:1307-1315(2008) · Mapped (45) |
| STAT3 mutations in the hyper-IgE syndrome. Holland S.M., DeLeo F.R., Elloumi H.Z., Hsu A.P., Uzel G., Brodsky N., Freeman A.F., Demidowich A., Davis J., Turner M.L. et al. N. Engl. J. Med. 357:1608-1619(2007) · UniProtKB (1) · Mapped (6) |
| Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. Bi L.L., Pan G., Atkinson T.P., Zheng L., Dale J.K., Makris C., Reddy V., McDonald J.M., Siegel R.M., Puck J.M. et al. BMC Med. Genet. 8:41-41(2007) · Mapped (3) |
| NRAS mutation causes a human autoimmune lymphoproliferative syndrome. Oliveira J.B., Bidere N., Niemela J.E., Zheng L., Sakai K., Nix C.P., Danner R.L., Barb J., Munson P.J., Puck J.M. et al. Proc. Natl. Acad. Sci. U.S.A. 104:8953-8958(2007) · UniProtKB (1) · Mapped (4) |
| Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Zhu S., Hsu A.P., Vacek M.M., Zheng L., Schaeffer A.A., Dale J.K., Davis J., Fischer R.E., Straus S.E., Boruchov D. et al. |
| Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Vogt G., Chapgier A., Yang K., Chuzhanova N., Feinberg J., Fieschi C., Boisson-Dupuis S., Alcais A., Filipe-Santos O., Bustamante J. et al. Nat. Genet. 37:692-700(2005) · UniProtKB (1) |
| Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. Renner E.D., Puck J.M., Holland S.M., Schmitt M., Weiss M., Frosch M., Bergmann M., Davis J., Belohradsky B.H., Grimbacher B. J. Pediatr. 144:93-99(2004) · Mapped (2) |
| Hypo-active variant of IL-2 and associated decreased T cell activation contribute to impaired apoptosis in autoimmune prone MRL mice. Choi Y., Simon-Stoos K., Puck J.M. Eur. J. Immunol. 32:677-685(2002) · Mapped (12) |
| Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. Fanos J.H., Davis J., Puck J.M. Am. J. Med. Genet. 98:46-56(2001) · Mapped (9) |
| The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Straus S.E., Jaffe E.S., Puck J.M., Dale J.K., Elkon K.B., Roesen-Wolff A., Peters A.M.J., Sneller M.C., Hallahan C.W., Wang J. et al. Blood 98:194-200(2001) · UniProtKB (1) |
| Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndrome. Choi Y., Ramnath V.R., Eaton A.S., Chen A., Simon-Stoos K.L., Kleiner D.E., Erikson J., Puck J.M. Clin. Immunol. 93:34-45(1999) · Mapped (3) |
| Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Wang J., Zheng L., Lobito A., Chan F.K., Dale J., Sneller M., Yao X., Puck J.M., Straus S.E., Lenardo M.J. Cell 98:47-58(1999) · UniProtKB (1) |
| Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Jackson C.E., Fischer R.E., Hsu A.P., Anderson S.M., Choi Y., Wang J., Dale J.K., Fleisher T.A., Middelton L.A., Sneller M.C. et al. Am. J. Hum. Genet. 64:1002-1014(1999) · UniProtKB (1) |
| The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. Infante A.J., Britton H.A., DeNapoli T., Middelton L.A., Lenardo M.J., Jackson C.E., Wang J., Fleisher T., Straus S.E., Puck J.M. J. Pediatr. 133:629-633(1998) · UniProtKB (1) |
| Interleukin-7R alpha mRNA expression increases as stem cells differentiate into T and B lymphocyte progenitors. Orlic D., Girard L.J., Lee D., Anderson S.M., Puck J.M., Bodine D.M. Exp. Hematol. 25:217-222(1997) · Mapped (4) |
| Clinical, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Sneller M.C., Wang J., Dale J.K., Strober W., Middelton L.A., Choi Y., Fleisher T.A., Lim M.S., Jaffe E.S., Puck J.M. et al. Blood 89:1341-1348(1997) · UniProtKB (1) |
| Genomic structure and mapping of human FADD, an intracellular mediator of lymphocyte apoptosis. Kim P.K., Dutra A.S., Chandrasekharappa S.C., Puck J.M. J. Immunol. 157:5461-5466(1996) · UniProtKB (2) |
| The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Puck J.M., Deschenes S.M., Porter J.C., Dutra A.S., Brown C.J., Willard H., Henthorn P.S. Hum. Mol. Genet. 2:1099-1104(1993) · UniProtKB (1) |
| Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Janne P.A., Dutra A.S., Dracopoli N.C., Charnas L.R., Puck J.M., Nussbaum R.L. Cytogenet. Cell Genet. 66:164-166(1994) · Mapped (5) |