(Q74595039)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

main subject

Bare lymphocyte syndrome

1 reference

D E Cressman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

K C Chin

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

D J Taxman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J P Ting

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

publication date

1 February 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

163-171

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

How are class II MHC genes turned on and off?

11 November 2019

cites work

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7 January 2021

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

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Multiple and persistent viral infections in a patient with bare lymphocyte syndrome

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Karyopherin beta2 mediates nuclear import of a mRNA binding protein

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7 January 2021

Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.

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Regulation of transcription of MHC class II genes

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7 January 2021

The MHC class II transactivator (CIITA) requires conserved leucine charged domains for interactions with the conserved W box promoter element.

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7 January 2021

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7 January 2021

Class II transactivator regulates the expression of multiple genes involved in antigen presentation

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7 January 2021

Class II transactivator (CIITA) is sufficient for the inducible expression of major histocompatibility complex class II genes.

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7 January 2021

Importance of acidic, proline/serine/threonine-rich, and GTP-binding regions in the major histocompatibility complex class II transactivator: generation of transdominant-negative mutants

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

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7 January 2021

Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains

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7 January 2021

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

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7 January 2021

The HIV-1 Tat nuclear localization sequence confers novel nuclear import properties

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7 January 2021

Nuclear localization signal-independent and importin/karyopherin-independent nuclear import of beta-catenin

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7 January 2021

Nucleocytoplasmic transport

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7 January 2021

Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients

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7 January 2021

Bare lymphocyte syndrome: altered HLA class II expression in B cell lines derived from two patients

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7 January 2021

Regulation of protein transport to the nucleus: central role of phosphorylation

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7 January 2021

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

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7 January 2021

Jaks and STATs: biological implications

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7 January 2021

Regulation of the NF-kappa B/rel transcription factor and I kappa B inhibitor system

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7 January 2021

A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome

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7 January 2021

Regulation of MHC class II genes: lessons from a disease

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7 January 2021

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

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7 January 2021

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

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7 January 2021

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

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7 January 2021

Differential expression and sequence-specific interaction of karyopherin alpha with nuclear localization sequences

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7 January 2021

Definition of a novel complementation group in MHC class II deficiency

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7 January 2021

Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia

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7 January 2021

Differential importin-alpha recognition and nuclear transport by nuclear localization signals within the high-mobility-group DNA binding domains of lymphoid enhancer factor 1 and T-cell factor 1

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7 January 2021

A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency

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7 January 2021

Transcription factors of the NFAT family: regulation and function

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7 January 2021

Molecular defects in the bare lymphocyte syndrome and regulation of MHC class II genes

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7 January 2021

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

1 reference

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7 January 2021

Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA)

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7 January 2021

Protein import into the nucleus

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7 January 2021

A nuclear localization domain in the hnRNP A1 protein

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7 January 2021

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

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7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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7 January 2021

Regulation of MHC gene expression

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7 January 2021

Immunodeficiency diseases and expression of HLA antigens

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7 January 2021

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

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7 January 2021

10.1016/S1074-7613(00)80017-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10072069%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference