RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency (Q24315739)

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Language	Label	Description	Also known as
English	RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency	scientific article

Statements

scholarly article

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RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency (English)

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Regulatory factor X associated protein

1 reference

GOA release 2020-03-11

positive regulation of transcription by RNA polymerase II

1 reference

GOA release 2020-03-11

bare lymphocyte syndrome 2

1 reference

based on heuristic

inferred from title

author name string

B Durand

1

author given names

B

author last names

Durand

1 reference

PubMed publication ID

20 October 2023

P Sperisen

2

author given names

P

author last names

Sperisen

1 reference

PubMed publication ID

20 October 2023

P Emery

3

author given names

P

author last names

Emery

1 reference

PubMed publication ID

20 October 2023

E Barras

4

author given names

E

author last names

Barras

1 reference

PubMed publication ID

20 October 2023

M Zufferey

5

author given names

M

author last names

Zufferey

1 reference

PubMed publication ID

20 October 2023

B Mach

6

author given names

B

author last names

Mach

1 reference

PubMed publication ID

20 October 2023

W Reith

7

author given names

W

author last names

Reith

1 reference

PubMed publication ID

20 October 2023

language of work or name

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publication date

3 March 1997

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The EMBO Journal

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16

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5

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1045-55

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Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

OBF-1, a novel B cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

A system of shuttle vectors and yeast host strains designed for efficient manipulation of DNA in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

Basic local alignment search tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

Nuclear targeting sequences--a consensus?

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

A consensus motif in the RFX DNA binding domain and binding domain mutants with altered specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Regulation of MHC class II genes: lessons from a disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Two complementation groups account for most cases of inherited MHC class II deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Developmental extinction of major histocompatibility complex class II gene expression in plasmocytes is mediated by silencing of the transactivator gene CIITA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Mutational specificity in bacteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Organ-specific autoimmunity: a 1986 overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Functional dissection of VP16, the trans-activator of herpes simplex virus immediate early gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Functional differences between yeast and human TFIID are localized to the highly conserved region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Sequences and factors: a guide to MHC class-II transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

In-gel digestion of proteins for internal sequence analysis after one- or two-dimensional gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

The bare lymphocyte syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Analysis of HLA-D region-associated molecules with monoclonal antibody

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Stable variants affecting B cell alloantigens in human lymphoid cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Human MHC class II gene transcription directed by the carboxyl terminus of CIITA, one of the defective genes in type II MHC combined immune deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Molecular analysis of G1B and G3A IFN gamma mutants reveals that defects in CIITA or RFX result in defective class II MHC and Ii gene induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

27 September 2017

Human B cell variants immunoselected against a single Ia antigen subset have lost expression of several Ia antigen subsets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

30 May 2018

Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

30 May 2018

Defective HLA DRA X box binding in the class II transactive transcription factor mutant 6.1.6 and in cell lines from class II immunodeficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

30 May 2018

In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

30 May 2018

Genetic complexity of regulatory mutants defective for HLA class II gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

30 May 2018

A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

29 November 2018

Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1169704

29 November 2018

Cooperative binding between factors RFX and X2bp to the X and X2 boxes of MHC class II promoters

1 reference

https://pubmed.ncbi.nlm.nih.gov/9118943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunodeficiency diseases and expression of HLA antigens

1 reference

https://pubmed.ncbi.nlm.nih.gov/9118943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel human class II HLA antigen

1 reference

https://pubmed.ncbi.nlm.nih.gov/9118943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis by sequential immunoprecipitations of the specificities of the monoclonal antibodies TU22,34,35,36,37,39,43,58 and YD1/63.HLK directed against human HLA class II antigens

1 reference

https://pubmed.ncbi.nlm.nih.gov/9118943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/EMBOJ/16.5.1045

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release_7xemmganxzh4bgpuimdbk4s3ci

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PMC publication ID

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PubMed publication ID

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ResearchGate publication ID

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