Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 79

1.

Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency.

Barthels C, Puchałka J, Racek T, Klein C, Brocker T.

PLoS One. 2013 Sep 17;8(9):e74838. doi: 10.1371/journal.pone.0074838. eCollection 2013.

2.

Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.

Punwani D, Kawahara M, Yu J, Sanford U, Roy S, Patel K, Carbonaro DA, Karlen AD, Khan S, Cornetta K, Rothe M, Schambach A, Kohn DB, Malech HL, McIvor RS, Puck JM, Cowan MJ.

Hum Gene Ther. 2017 Jan;28(1):112-124. doi: 10.1089/hum.2016.064. Epub 2016 Sep 7.

3.

Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

Noordzij JG, Verkaik NS, van der Burg M, van Veelen LR, de Bruin-Versteeg S, Wiegant W, Vossen JM, Weemaes CM, de Groot R, Zdzienicka MZ, van Gent DC, van Dongen JJ.

Blood. 2003 Feb 15;101(4):1446-52. Epub 2002 Oct 24.

4.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD.

J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25.

5.

Reduced immunoglobulin class switch recombination in the absence of Artemis.

Rivera-Munoz P, Soulas-Sprauel P, Le Guyader G, Abramowski V, Bruneau S, Fischer A, Pâques F, de Villartay JP.

Blood. 2009 Oct 22;114(17):3601-9. doi: 10.1182/blood-2008-11-188383. Epub 2009 Aug 19.

6.

Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation.

Li L, Salido E, Zhou Y, Bhattacharyya S, Yannone SM, Dunn E, Meneses J, Feeney AJ, Cowan MJ.

J Immunol. 2005 Feb 15;174(4):2420-8.

7.

Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs.

Waide EH, Dekkers JC, Ross JW, Rowland RR, Wyatt CR, Ewen CL, Evans AB, Thekkoot DM, Boddicker NJ, Serão NV, Ellinwood NM, Tuggle CK.

J Immunol. 2015 Oct 1;195(7):3171-9. doi: 10.4049/jimmunol.1501132. Epub 2015 Aug 28.

8.

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.

Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K.

Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168.

PMID:
19953608
9.

DNA-PKcs deficiency in human: long predicted, finally found.

van der Burg M, van Dongen JJ, van Gent DC.

Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. Review.

PMID:
19823081
10.

Artemis-independent functions of DNA-dependent protein kinase in Ig heavy chain class switch recombination and development.

Rooney S, Alt FW, Sekiguchi J, Manis JP.

Proc Natl Acad Sci U S A. 2005 Feb 15;102(7):2471-5. Epub 2005 Feb 7.

11.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner SÜ, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B.

Hum Mol Genet. 2015 Dec 20;24(25):7361-72. doi: 10.1093/hmg/ddv437. Epub 2015 Oct 16.

12.

Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.

Benjelloun F, Garrigue A, Demerens-de Chappedelaine C, Soulas-Sprauel P, Malassis-Séris M, Stockholm D, Hauer J, Blondeau J, Rivière J, Lim A, Le Lorc'h M, Romana S, Brousse N, Pâques F, Galy A, Charneau P, Fischer A, de Villartay JP, Cavazzana-Calvo M.

Mol Ther. 2008 Aug;16(8):1490-9. doi: 10.1038/mt.2008.118. Epub 2008 Jun 17.

13.

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, Schwarz K, Schulz AS, Hoenig M, Sparber-Sauer M, Gatz SA, Denzer C, Blanche S, Moshous D, Picard C, Horn BN, de Villartay JP, Cavazzana M, Debatin KM, Friedrich W, Fischer A, Cowan MJ.

Blood. 2014 Jan 9;123(2):281-9. doi: 10.1182/blood-2013-01-476432. Epub 2013 Oct 21.

14.

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.

Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D.

Clin Exp Immunol. 2008 Jul;153(1):75-80. doi: 10.1111/j.1365-2249.2008.03681.x. Epub 2008 May 26.

15.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Alsmadi O, Al-Ghonaium A, Al-Muhsen S, Arnaout R, Al-Dhekri H, Al-Saud B, Al-Kayal F, Al-Saud H, Al-Mousa H.

BMC Med Genet. 2009 Nov 13;10:116. doi: 10.1186/1471-2350-10-116.

16.

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH, Brugmans L, Raams A, Jaspers NG, Zdzienicka MZ, van Dongen JJ, van Gent DC.

J Clin Invest. 2006 Jan;116(1):137-45. Epub 2005 Dec 15.

17.

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.

Ijspeert H, Lankester AC, van den Berg JM, Wiegant W, van Zelm MC, Weemaes CM, Warris A, Pan-Hammarström Q, Pastink A, van Tol MJ, van Dongen JJ, van Gent DC, van der Burg M.

Genes Immun. 2011 Sep;12(6):434-44. doi: 10.1038/gene.2011.16. Epub 2011 Mar 10.

PMID:
21390052
18.

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

Niehues T, Perez-Becker R, Schuetz C.

Clin Immunol. 2010 May;135(2):183-92. doi: 10.1016/j.clim.2010.01.013. Epub 2010 Feb 20. Review.

PMID:
20172764
19.

Lymphopoiesis in transgenic mice over-expressing Artemis.

Rivera-Munoz P, Abramowski V, Jacquot S, André P, Charrier S, Lipson-Ruffert K, Fischer A, Galy A, Cavazzana M, de Villartay JP.

Gene Ther. 2016 Feb;23(2):176-86. doi: 10.1038/gt.2015.95. Epub 2015 Oct 1.

PMID:
26361272
20.

RAG mutations in human B cell-negative SCID.

Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR.

Science. 1996 Oct 4;274(5284):97-9.

PMID:
8810255

Supplemental Content

Support Center