Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. (Q36190444)

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29 January 2020

title

Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome (English)

1 reference

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29 January 2020

main subject

haploinsufficiency

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transmembrane protein

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author

Mónica Martínez-Gallo

2

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29 January 2020

Montserrat Cols

4

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Andrea Cerutti

5

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Charlotte Cunningham-Rundles

29 January 2020

11

object named as

Charlotte Cunningham-Rundles

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29 January 2020

6

Lin Radigan

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29 January 2020

10

James R Lupski

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29 January 2020

1

Javier Chinen

1 reference

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Wenli Gu

3

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29 January 2020

Li Zhang

7

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29 January 2020

Lorraine Potocki

8

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29 January 2020

Marjorie Withers

9

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language of work or name

English

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publication date

22 April 2011

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The Journal of Allergy and Clinical Immunology

29 January 2020

published in

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volume

127

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issue

6

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page(s)

1579-1586

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The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency

29 January 2020

cites work

1 reference

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The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

1 October 2017

1 reference

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The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function

1 October 2017

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Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

1 October 2017

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Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency

1 October 2017

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TACI, an enigmatic BAFF/APRIL receptor, with new unappreciated biochemical and biological properties

1 October 2017

1 reference

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Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes

1 October 2017

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TACI, unlike BAFF-R, is solely activated by oligomeric BAFF and APRIL to support survival of activated B cells and plasmablasts

1 October 2017

1 reference

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Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation

1 October 2017

1 reference

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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

1 October 2017

1 reference

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Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID)

1 October 2017

1 reference

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Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428026

TACI is mutant in common variable immunodeficiency and IgA deficiency

1 October 2017

1 reference

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The role of APRIL and BAFF in lymphocyte activation

1 October 2017

1 reference

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TACI and BAFF-R mediate isotype switching in B cells

1 October 2017

1 reference

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Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding

1 October 2017

1 reference

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Impaired IgA class switching in APRIL-deficient mice

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428026

Tumor necrosis factor (TNF) receptor superfamily member TACI is a high affinity receptor for TNF family members APRIL and BLyS

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3428026

Molecular cloning and functional characterization of murine transmembrane activator and CAML interactor (TACI) with chromosomal localization in human and mouse

1 October 2017

1 reference

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TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation

1 October 2017

1 reference

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Transmembrane activator, calcium modulator, and cyclophilin ligand interactor drives plasma cell differentiation in LPS-activated B cells.

1 October 2017

1 reference

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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

2 July 2018

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Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

2 July 2018

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Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency

2 July 2018

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Deficient TACI expression on B lymphocytes of newborn mice leads to defective Ig secretion in response to BAFF or APRIL.

22 September 2018

1 reference

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Regulated expression of BAFF-binding receptors during human B cell differentiation.

22 September 2018

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Synthetic CpG oligodeoxynucleotides augment BAFF- and APRIL-mediated immunoglobulin secretion.

22 September 2018

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Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

22 September 2018

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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

22 September 2018

1 reference

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

22 September 2018

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12 December 2020

Decreased expression of tumor necrosis factor family receptors involved in humoral immune responses in preterm neonates

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12 December 2020

Role of TNFRSF13B variants in patients with common variable immunodeficiency

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12 December 2020

Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency

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12 December 2020

Regulation of the T-independent humoral response by TACI

1 reference

12 December 2020

10.1016/J.JACI.2011.02.046

Identifiers

DOI

1 reference

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29 January 2020

1 reference

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29 January 2020

PubMed publication ID

21514638

1 reference