Corneo B - Search Results

1

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist FL, Fischer A, de Villartay JP. Corneo B, et al. Blood. 2001 May 1;97(9):2772-6. doi: 10.1182/blood.v97.9.2772. Blood. 2001. PMID: 11313270 Free article.

2

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP. Corneo B, et al. J Biol Chem. 2000 Apr 28;275(17):12672-5. doi: 10.1074/jbc.275.17.12672. J Biol Chem. 2000. PMID: 10777560 Free article.

3

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. Moshous D, et al. Among authors: corneo b. Cell. 2001 Apr 20;105(2):177-86. doi: 10.1016/s0092-8674(01)00309-9. Cell. 2001. PMID: 11336668 Free article.

4

A short peptide at the C terminus is responsible for the nuclear localization of RAG2.

Corneo B, Benmerah A, Villartay JP. Corneo B, et al. Eur J Immunol. 2002 Jul;32(7):2068-73. doi: 10.1002/1521-4141(200207)32:7<2068::AID-IMMU2068>3.0.CO;2-6. Eur J Immunol. 2002. PMID: 12115628 Free article.

5

Rag mutations reveal robust alternative end joining.

Corneo B, Wendland RL, Deriano L, Cui X, Klein IA, Wong SY, Arnal S, Holub AJ, Weller GR, Pancake BA, Shah S, Brandt VL, Meek K, Roth DB. Corneo B, et al. Nature. 2007 Sep 27;449(7161):483-6. doi: 10.1038/nature06168. Nature. 2007. PMID: 17898768

6

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.

de Jong JO, Llapashtica C, Genestine M, Strauss K, Provenzano F, Sun Y, Zhu H, Cortese GP, Brundu F, Brigatti KW, Corneo B, Migliori B, Tomer R, Kushner SA, Kellendonk C, Javitch JA, Xu B, Markx S. de Jong JO, et al. Among authors: corneo b. Nat Commun. 2021 Sep 1;12(1):4087. doi: 10.1038/s41467-021-24358-4. Nat Commun. 2021. PMID: 34471112 Free PMC article.

7

CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient.

Torriano S, Baulier E, Garcia Diaz A, Corneo B, Farber DB. Torriano S, et al. Among authors: corneo b. CRISPR J. 2022 Jun;5(3):457-471. doi: 10.1089/crispr.2021.0110. CRISPR J. 2022. PMID: 35686978 Free PMC article.

8

Efficient Cas9-based Genome Editing Using CRISPR Analysis Webtools in Severe Early-onset-obesity Patient-derived iPSCs.

Patel A, Iannello G, Diaz AG, Sirabella D, Thaker V, Corneo B. Patel A, et al. Among authors: corneo b. Curr Protoc. 2022 Aug;2(8):e519. doi: 10.1002/cpz1.519. Curr Protoc. 2022. PMID: 35950852 Free PMC article.

9

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143.

Baulier E, Garcia Diaz A, Corneo B, Farber DB. Baulier E, et al. Among authors: corneo b. Stem Cell Res. 2018 Dec;33:274-277. doi: 10.1016/j.scr.2018.11.016. Epub 2018 Nov 28. Stem Cell Res. 2018. PMID: 30513407 Free article.

10

Small-molecule-directed, efficient generation of retinal pigment epithelium from human pluripotent stem cells.

Maruotti J, Sripathi SR, Bharti K, Fuller J, Wahlin KJ, Ranganathan V, Sluch VM, Berlinicke CA, Davis J, Kim C, Zhao L, Wan J, Qian J, Corneo B, Temple S, Dubey R, Olenyuk BZ, Bhutto I, Lutty GA, Zack DJ. Maruotti J, et al. Among authors: corneo b. Proc Natl Acad Sci U S A. 2015 Sep 1;112(35):10950-5. doi: 10.1073/pnas.1422818112. Epub 2015 Aug 12. Proc Natl Acad Sci U S A. 2015. PMID: 26269569 Free PMC article.

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