(Q34519508)

2 August 2017

title

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease (English)

1 reference

2 August 2017

Maria Sarris

7

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Christopher G Bell

Christopher G Bell

4

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Donald B Bloch

Donald B Bloch

3

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Edwin P. Kirk

Edwin P Kirk

10

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Jennifer A Donald

Jennifer A Donald

9

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author name string

Tony Roscioli

1

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2 August 2017

Simon T Cliffe

2

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2 August 2017

Glenda Mullan

5

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2 August 2017

Peter J Taylor

6

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2 August 2017

Joanne Wang

8

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2 August 2017

John B Ziegler

11

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2 August 2017

Ulrich Salzer

12

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2 August 2017

George B McDonald

13

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2 August 2017

Melanie Wong

14

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2 August 2017

Robert Lindeman

15

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2 August 2017

Michael F Buckley

16

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2 August 2017

language of work or name

English

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publication date

30 April 2006

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2 August 2017

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2 August 2017

volume

38

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2 August 2017

issue

6

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2 August 2017

page(s)

620-622

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1780

2 August 2017

exact match

0 references

cites work

Familial hepatic venoocclusive disease with probable immune deficiency

1 reference

Modulation of retinoid signaling by a cytoplasmic viral protein via sequestration of Sp110b, a potent transcriptional corepressor of retinoic acid receptor, from the nucleus

21 January 2018

1 reference

The Universal Protein Resource (UniProt)

21 January 2018

1 reference

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

21 January 2018

1 reference

Cyclophosphamide metabolism, liver toxicity, and mortality following hematopoietic stem cell transplantation

21 January 2018

1 reference

Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator

21 January 2018

1 reference

DNA viruses and viral proteins that interact with PML nuclear bodies

21 January 2018

1 reference

Promyelocytic leukemia nuclear bodies associate with transcriptionally active genomic regions

21 January 2018

1 reference

ND10 components relocate to sites associated with herpes simplex virus type 1 nucleoprotein complexes during virus infection

21 January 2018

1 reference

Ipr1 gene mediates innate immunity to tuberculosis

21 January 2018

1 reference

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

21 January 2018

1 reference

Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70.

21 January 2018

1 reference

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

21 January 2018

1 reference

Localisation of gene for Becker muscular dystrophy

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1780

1 reference

2 August 2017

1 reference