Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

about

Cohesin mutations in human cancer Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

P2860

Q38840393-2422517F-0E44-4144-A1D4-D079F515CD16 Q48331170-37BF2BC9-B4CF-4166-BC1C-B826305F124B Q50556864-86394F78-09B5-4826-B41A-D93EA7EB2A94

P2860

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

Item

http://www.wikidata.org/entity/Q57573621

description

article

@en

im April 2014 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

@nl

наукова стаття, опублікована у квітні 2014

@uk

name

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@en

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@nl

type

Item

label

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@en

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@nl

prefLabel

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@en

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@nl

P1476

Definition of minimal duplicat ...... Xq25 microduplication syndrome

@en

P2093

Daniela Di Benedetto

http://www.w3.org/2001/XMLSchema#string

Daniela Luciano

http://www.w3.org/2001/XMLSchema#string

Lucia Grillo

http://www.w3.org/2001/XMLSchema#string

Sebastiano Bianca

http://www.w3.org/2001/XMLSchema#string

P2860

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

TREX is a conserved complex coupling transcription with messenger RNA export

Recruitment of the human TREX complex to mRNA during splicing

X-linked inhibitor of apoptosis protein (XIAP) regulates PTEN ubiquitination, content, and compartmentalization

X-linked IAP is a direct inhibitor of cell-death proteases

Intellectual disability associated with a homozygous missense mutation in THOC6

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family

Fragile X and X-linked intellectual disability: four decades of discovery

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

P304

1923-1930

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.36570

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

164

http://www.w3.org/2001/XMLSchema#string

P50

Mariangela Lo Giudice

Marco Fichera

Sebastiano Antonino Musumeci

P577

2014-04-14T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24733578

http://www.w3.org/2001/XMLSchema#string

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

about

P2860

P2860

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698