180 related articles for article (PubMed ID: 24230999)
1. The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Lee PP; Woodbine L; Gilmour KC; Bibi S; Cale CM; Amrolia PJ; Veys PA; Davies EG; Jeggo PA; Jones A
Clin Immunol; 2013 Dec; 149(3):464-74. PubMed ID: 24230999
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 25917813
[TBL] [Abstract][Full Text] [Related]
3. 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; 24(25):7361-72. PubMed ID: 26476407
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 27611239
[TBL] [Abstract][Full Text] [Related]
5. 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; 101(4):1446-52. PubMed ID: 12406895
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 19953608
[TBL] [Abstract][Full Text] [Related]
7. Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
Mou W; Gao L; He J; Yin J; Xu B; Gui J
Immunogenetics; 2021 Dec; 73(6):425-434. PubMed ID: 34406419
[TBL] [Abstract][Full Text] [Related]
8. A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
Strubbe S; De Bruyne M; Pannicke U; Beyls E; Vandekerckhove B; Leclercq G; De Baere E; Bordon V; Vral A; Schwarz K; Haerynck F; Taghon T
Front Immunol; 2021; 12():674226. PubMed ID: 34220820
[TBL] [Abstract][Full Text] [Related]
9. A hypomorphic Artemis human disease allele causes aberrant chromosomal rearrangements and tumorigenesis.
Jacobs C; Huang Y; Masud T; Lu W; Westfield G; Giblin W; Sekiguchi JM
Hum Mol Genet; 2011 Feb; 20(4):806-19. PubMed ID: 21147755
[TBL] [Abstract][Full Text] [Related]
10. Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.
Nahum A; Somech R; Shubinsky G; Levy J; Broides A
Clin Immunol; 2020 Apr; 213():108366. PubMed ID: 32092471
[TBL] [Abstract][Full Text] [Related]
11. Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.
Sundin M; Marits P; Ramme K; Kolios AGA; Nilsson J
Clin Immunol; 2019 Mar; 200():16-18. PubMed ID: 30630113
[TBL] [Abstract][Full Text] [Related]
12. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
Moshous D; Callebaut I; de Chasseval R; Corneo B; Cavazzana-Calvo M; Le Deist F; Tezcan I; Sanal O; Bertrand Y; Philippe N; Fischer A; de Villartay JP
Cell; 2001 Apr; 105(2):177-86. PubMed ID: 11336668
[TBL] [Abstract][Full Text] [Related]
13. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.
Al-Herz W; Massaad MJ; Chou J; Notarangelo LD; Geha RS
Clin Immunol; 2018 Feb; 187():68-75. PubMed ID: 29051008
[TBL] [Abstract][Full Text] [Related]
14. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
Moshous D; Pannetier C; Chasseval Rd Rd; Deist Fl Fl; Cavazzana-Calvo M; Romana S; Macintyre E; Canioni D; Brousse N; Fischer A; Casanova JL; Villartay JP
J Clin Invest; 2003 Feb; 111(3):381-7. PubMed ID: 12569164
[TBL] [Abstract][Full Text] [Related]
15. Omenn syndrome due to ARTEMIS mutations.
Ege M; Ma Y; Manfras B; Kalwak K; Lu H; Lieber MR; Schwarz K; Pannicke U
Blood; 2005 Jun; 105(11):4179-86. PubMed ID: 15731174
[TBL] [Abstract][Full Text] [Related]
16. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
Buck D; Moshous D; de Chasseval R; Ma Y; le Deist F; Cavazzana-Calvo M; Fischer A; Casanova JL; Lieber MR; de Villartay JP
Eur J Immunol; 2006 Jan; 36(1):224-35. PubMed ID: 16358361
[TBL] [Abstract][Full Text] [Related]
17. Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
Inoue K; Miyamoto S; Tomomasa D; Adachi E; Azumi S; Horikoshi Y; Ishihara T; Osone S; Kawahara Y; Kudo K; Kato Z; Ohnishi H; Kashimada K; Imai K; Ohara O; van Zelm MC; Cowan MJ; Morio T; Kanegane H
J Clin Immunol; 2023 Apr; 43(3):585-594. PubMed ID: 36385359
[TBL] [Abstract][Full Text] [Related]
18. Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
Kobayashi N; Agematsu K; Sugita K; Sako M; Nonoyama S; Yachie A; Kumaki S; Tsuchiya S; Ochs HD; Sugita K; Fukushima Y; Komiyama A
Hum Genet; 2003 Apr; 112(4):348-52. PubMed ID: 12592555
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 21390052
[TBL] [Abstract][Full Text] [Related]
20. Radiation-induced delayed cell death in a hypomorphic Artemis cell line.
Evans PM; Woodbine L; Riballo E; Gennery AR; Hubank M; Jeggo PA
Hum Mol Genet; 2006 Apr; 15(8):1303-11. PubMed ID: 16540517
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
