Pannicke U - Search Results

1

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: pannicke u. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.

2

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.

Pannicke U, Tuchschmid P, Friedrich W, Bartram CR, Schwarz K. Pannicke U, et al. Hum Genet. 1996 Dec;98(6):706-9. doi: 10.1007/s004390050290. Hum Genet. 1996. PMID: 8931706

3

Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination.

Ma Y, Pannicke U, Schwarz K, Lieber MR. Ma Y, et al. Among authors: pannicke u. Cell. 2002 Mar 22;108(6):781-94. doi: 10.1016/s0092-8674(02)00671-2. Cell. 2002. PMID: 11955432 Free article.

4

Human severe combined immune deficiency and DNA repair.

Schwarz K, Ma Y, Pannicke U, Lieber MR. Schwarz K, et al. Among authors: pannicke u. Bioessays. 2003 Nov;25(11):1061-70. doi: 10.1002/bies.10344. Bioessays. 2003. PMID: 14579247 Review.

5

Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.

Pannicke U, Ma Y, Hopfner KP, Niewolik D, Lieber MR, Schwarz K. Pannicke U, et al. EMBO J. 2004 May 5;23(9):1987-97. doi: 10.1038/sj.emboj.7600206. Epub 2004 Apr 8. EMBO J. 2004. PMID: 15071507 Free PMC article.

6

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S. Enders A, et al. Among authors: pannicke u. J Pediatr. 2004 Nov;145(5):698-700. doi: 10.1016/j.jpeds.2004.06.065. J Pediatr. 2004. PMID: 15520784

7

Omenn syndrome due to ARTEMIS mutations.

Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Ege M, et al. Among authors: pannicke u. Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24. Blood. 2005. PMID: 15731174 Free article.

8

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Müller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S. Enders A, et al. Among authors: pannicke u. Blood. 2006 Jul 1;108(1):81-7. doi: 10.1182/blood-2005-11-4413. Epub 2006 Mar 21. Blood. 2006. PMID: 16551969 Free article.

9

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S. Enders A, et al. Among authors: pannicke u. J Immunol. 2006 Apr 15;176(8):5060-8. doi: 10.4049/jimmunol.176.8.5060. J Immunol. 2006. PMID: 16585603

10

Disulfide bridge disruption in the alpha2 domain of the HLA class I molecule leads to low expression of the corresponding antigen.

Hirv K, Pannicke U, Mytilineos J, Schwarz K. Hirv K, et al. Among authors: pannicke u. Hum Immunol. 2006 Aug;67(8):589-96. doi: 10.1016/j.humimm.2006.04.010. Epub 2006 May 24. Hum Immunol. 2006. PMID: 16916654

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