1 - 25 of 26 results for author:"Durandy A." in Literature citations
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| Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Chandesris M.O., Melki I., Natividad A., Puel A., Fieschi C., Yun L., Thumerelle C., Oksenhendler E., Boutboul D., Thomas C. et al. Medicine (Baltimore) 91:e1-19(2012) · Mapped (7) |
| The UNG2 Arg88Cys variant abrogates RPA-mediated recruitment of UNG2 to single-stranded DNA. Torseth K., Doseth B., Hagen L., Olaisen C., Liabakk N.B., Graesmann H., Durandy A., Otterlei M., Krokan H.E., Kavli B. et al. DNA Repair (Amst.) 11:559-569(2012) · Mapped (6) |
| Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis. Du L., Peng R., Bjorkman A., Filipe de Miranda N., Rosner C., Kotnis A., Berglund M., Liu C., Rosenquist R., Enblad G. et al. J. Exp. Med. 209:291-305(2012) · Mapped (1) |
| RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. Pangrazio A., Cassani B., Guerrini M.M., Crockett J.C., Marrella V., Zammataro L., Strina D., Schulz A., Schlack C., Kornak U. et al. J. Bone Miner. Res. 27:342-351(2012) · Mapped (6) |
| Human MSH6 deficiency is associated with impaired antibody maturation. Gardes P., Forveille M., Alyanakian M.A., Aucouturier P., Ilencikova D., Leroux D., Rahner N., Mazerolles F., Fischer A., Kracker S. et al. J. Immunol. 188:2023-2029(2012) · Mapped (6) |
| Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Meyers G., Ng Y.S., Bannock J.M., Lavoie A., Walter J.E., Notarangelo L.D., Kilic S.S., Aksu G., Debre M., Rieux-Laucat F. et al. Proc. Natl. Acad. Sci. U.S.A. 108:11554-11559(2011) · Mapped (22) |
| Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. Rigaud S., Lopez-Granados E., Siberil S., Gloire G., Lambert N., Lenoir C., Synaeve C., Stacey M., Fugger L., Stephan J.L. et al. Blood 118:252-261(2011) · Mapped (11) |
| A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). Pons V., Rolland C., Nauze M., Danjoux M., Gaibelet G., Durandy A., Sassolas A., Levy E., Terce F., Collet X. et al. Hum. Mutat. 32:751-759(2011) · Mapped (3) |
| Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Perez de Diego R., Sancho-Shimizu V., Lorenzo L., Puel A., Plancoulaine S., Picard C., Herman M., Cardon A., Durandy A., Bustamante J. et al. |
| Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. Touzot F., Callebaut I., Soulier J., Gaillard L., Azerrad C., Durandy A., Fischer A., de Villartay J.P., Revy P. Proc. Natl. Acad. Sci. U.S.A. 107:10097-10102(2010) · UniProtKB (1) |
| Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. de Pontual L., Mathieu Y., Golzio C., Rio M., Malan V., Boddaert N., Soufflet C., Picard C., Durandy A., Dobbie A. et al. |
| The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. Stewart G.S., Panier S., Townsend K., Al-Hakim A.K., Kolas N.K., Miller E.S., Nakada S., Ylanko J., Olivarius S., Mendez M. et al. Cell 136:420-434(2009) · UniProtKB (15) |
| Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. Peron S., Metin A., Gardes P., Alyanakian M.A., Sheridan E., Kratz C.P., Fischer A., Durandy A. J. Exp. Med. 205:2465-2472(2008) · Mapped (4) |
| ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. Bossaller L., Burger J., Draeger R., Grimbacher B., Knoth R., Plebani A., Durandy A., Baumann U., Schlesier M., Welcher A.A. et al. J. Immunol. 177:4927-4932(2006) · Mapped (4) |
| X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. Filipe-Santos O., Bustamante J., Haverkamp M.H., Vinolo E., Ku C.-L., Puel A., Frucht D.M., Christel K., von Bernuth H., Jouanguy E. et al. J. Exp. Med. 203:1745-1759(2006) · UniProtKB (1) |
| Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Buck D., Malivert L., de Chasseval R., Barraud A., Fondaneche M.-C., Sanal O., Plebani A., Stephan J.-L., Hufnagel M., le Deist F. et al. |
| B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. Kavli B., Andersen S., Otterlei M., Liabakk N.B., Imai K., Fischer A., Durandy A., Krokan H.E., Slupphaug G. J. Exp. Med. 201:2011-2021(2005) · UniProtKB (1) · Mapped (5) |
| Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. de Saint Basile G., Geissmann F., Flori E., Uring-Lambert B., Soudais C., Cavazzana-Calvo M., Durandy A., Jabado N., Fischer A., Le Deist F. J. Clin. Invest. 114:1512-1517(2004) · Mapped (5) |
| Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Imai K., Slupphaug G., Lee W.-I., Revy P., Nonoyama S., Catalan N., Yel L., Forveille M., Kavli B., Krokan H.E. et al. Nat. Immunol. 4:1023-1028(2003) · UniProtKB (1) · Mapped (8) |
| The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. Catalan N., Selz F., Imai K., Revy P., Fischer A., Durandy A. J. Immunol. 171:2504-2509(2003) · Mapped (21) |
| Retinoids regulate survival and antigen presentation by immature dendritic cells. Geissmann F., Revy P., Brousse N., Lepelletier Y., Folli C., Durandy A., Chambon P., Dy M. J. Exp. Med. 198:623-634(2003) · Mapped (1) |
| Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Ferrari S., Giliani S., Insalaco A., Al-Ghonaium A., Soresina A.R., Loubser M., Avanzini M.A., Marconi M., Badolato R., Ugazio A.G. et al. Proc. Natl. Acad. Sci. U.S.A. 98:12614-12619(2001) · UniProtKB (1) · Mapped (2) |
| X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling. Doeffinger R., Smahi A., Bessia C., Geissmann F., Feinberg J., Durandy A., Bodemer C., Kenwrick S.J., Dupuis-Girod S., Blanche S. et al. Nat. Genet. 27:277-285(2001) · UniProtKB (1) |
| Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Revy P., Muto T., Levy Y., Geissmann F., Plebani A., Sanal O., Catalan N., Forveille M., Dufourcq-Lagelouse R., Gennery A. et al. |
| Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. Altare F., Lammas D., Revy P., Jouanguy E., Doeffinger R., Lamhamedi-Cherradi S.-E., Drysdale P., Scheel-Toellner D., Girdlestone J., Darbyshire P. et al. J. Clin. Invest. 102:2035-2040(1998) · UniProtKB (1) · Mapped (3) |