(Q35850311)

English

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

scientific article published in December 2000

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scholarly article

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2 November 2019

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains (English)

1 reference

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2 November 2019

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2 November 2019

9

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2 November 2019

author name string

S Santagata

1

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2 November 2019

C A Gomez

2

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2 November 2019

C Sobacchi

3

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2 November 2019

M Abinun

5

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2 November 2019

S Pasic

6

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2 November 2019

P Cortes

7

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2 November 2019

P Vezzoni

8

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2 November 2019

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1 December 2000

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2 November 2019

Proceedings of the National Academy of Sciences of the United States of America

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2 November 2019

97

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2 November 2019

14572-14577

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2 November 2019

26

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2 November 2019

The SCF(HOS/beta-TRCP)-ROC1 E3 ubiquitin ligase utilizes two distinct domains within CUL1 for substrate targeting and ubiquitin ligation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps of V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Programmed ribosomal frameshifting: much ado about knotting!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Major Egr3 isoforms are generated via alternate translation start sites and differ in their abilities to activate transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Molecular cloning and characterization of a mouse homolog of bacterial ClpX, a novel mammalian class II member of the Hsp100/Clp chaperone family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

DNA hairpin opening mediated by the RAG1 and RAG2 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Slip-sliding the frame: programmed -1 frameshifting on eukaryotic transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Hairpin coding end opening is mediated by RAG1 and RAG2 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

The effect of Me2+ cofactors at the initial stages of V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Partial V(D)J recombination activity leads to Omenn syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Natural and engineered disorders of lymphocyte development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Complementation of V(D)J recombination deficiency in RAG-1(-/-) B cells reveals a requirement for novel elements in the N-terminus of RAG-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

A basic motif in the N-terminal region of RAG1 enhances V(D)J recombination activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

V(D)J recombination: modulation of RAG1 and RAG2 cleavage activity on 12/23 substrates by whole cell extract and DNA-bending proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

The 12/23 rule is enforced at the cleavage step of V(D)J recombination in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

A stable RAG1-RAG2-DNA complex that is active in V(D)J cleavage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

RAG mutations in human B cell-negative SCID.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Localization, interaction, and RNA binding properties of the V(D)J recombination-activating proteins RAG1 and RAG2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Genetic evidence that the RAG1 protein directly participates in V(D)J recombination through substrate recognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Initiation of V(D)J recombination in vitro obeying the 12/23 rule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Expression and V(D)J recombination activity of mutated RAG-1 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Initiation of V(D)J recombination in a cell-free system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Somatic generation of antibody diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Extrachromosomal DNA substrates in pre-B cells undergo inversion or deletion at immunoglobulin V-(D)-J joining signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

pEF-BOS, a powerful mammalian expression vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

11 July 2018

Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.97.26.14572

21 January 2018

Identification of two catalytic residues in RAG1 that define a single active site within the RAG1/RAG2 protein complex.

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.97.26.14572

21 January 2018

The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=18960

24 September 2018

The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.97.26.14572

21 January 2018

The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.97.26.14572

21 January 2018

A zinc-binding domain involved in the dimerization of RAG1

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.97.26.14572

21 January 2018

Identifiers

10.1073/PNAS.97.26.14572

1 reference

Europe PubMed Central

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2 November 2019

2000PNAS...9714572S

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1 reference

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2 November 2019

1 reference

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2 November 2019

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