(Q104795021)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

title

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

main subject

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Katta Mohan Girisha

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Valentina C Sladky

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

John B Vincent

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

author name string

Taimoor I Sheikh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Nasim Vasli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Stephen Pastore

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Kimia Kharizi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Ricardo Harripaul

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Zohreh Fattahi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Shruti Pande

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Farooq Naeem

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Abrar Hussain

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Asif Mir

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Muhammad Irfan

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Muhammad Ayub

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Christoph Schwarzer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Hossein Najmabadi

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Anju Shukla

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Vincent Zoran Braun

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Irmina Garcia-Carpio

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

Andreas Villunger

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

publication date

5 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

published in

Translational Psychiatry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

page(s)

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

Genetic mapping and exome sequencing identify variants associated with five novel diseases

12 January 2021

cites work

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS)

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Caspase-2 at a glance

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

NPM1 directs PIDDosome-dependent caspase-2 activation in the nucleolus.

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

The PIDDosome activates p53 in response to supernumerary centrosomes

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

The resurrection of the PIDDosome - emerging roles in the DNA-damage response and centrosome surveillance

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

PIDD mediates NF-kappaB activation in response to DNA damage

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Loss of PIDD limits NF-κB activation and cytokine production but not cell survival or transformation after DNA damage

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Neuronal caspase 2 activity and function requires RAIDD, but not PIDD

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Uncovering the PIDDosome and caspase-2 as regulators of organogenesis and cellular differentiation

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Caspase-2 cleavage of tau reversibly impairs memory

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Caspase-2 promotes AMPA receptor internalization and cognitive flexibility via mTORC2-AKT-GSK3β signaling

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Caspase-2 activation in the absence of PIDDosome formation

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Genetics of intellectual disability in consanguineous families

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Prodynorphin-derived peptides are critical modulators of anxiety and regulate neurochemistry and corticosterone

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Transcriptional landscape of the prenatal human brain

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Spatiotemporal transcriptomic divergence across human and macaque brain development

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

An anatomically comprehensive atlas of the adult human brain transcriptome

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Molecular neuroanatomy of anorexia nervosa

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Molecular Architecture of the Mouse Nervous System

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Autoproteolysis of PIDD marks the bifurcation between pro-death caspase-2 and pro-survival NF-kappaB pathway

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

In vitro reconstitution of the interactions in the PIDDosome

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

PIDD mediates and stabilizes the interaction between RAIDD and caspase-2 for the PIDDosome assembly

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Death Domain Assembly Mechanism Revealed by Crystal Structure of the Oligomeric PIDDosome Core Complex

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

A human cell atlas of fetal gene expression

1 reference

https://api.crossref.org/works/10.1038%2FS41398-020-01158-W

7 January 2021

10.1038/S41398-020-01158-W

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33414379%20AND%20SRC:MED&resulttype=core&format=json

12 January 2021

0 references

1 reference