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22q13.2

A chromosome band present on 22q
National Institutes of Health

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7 relations
22qChromosomesEP300 wt AlleleRBX1 wt Allele
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Papers overview

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Highly Cited
2017
Highly Cited
2017
Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function
Importance Schizophrenia is associated with widespread cognitive impairments. Although cognitive deficits are one of the factors… Expand
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2016
2016
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases
STUDY QUESTION Can spontaneous premature ovarian failure (POF) patients derived from population-based biobanks reveal the… Expand
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2014
2014
A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region
Phelan‐McDermid syndrome, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by… Expand
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2012
2012
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300
Objective Genome-wide association studies (GWAS) have identified multiple risk loci for Crohn's disease (CD). However, the… Expand
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Review
2007
Review
2007
What we know about ST13, a co-factor of heat shock protein, or a tumor suppressor?
This article is to summarize the molecular and functional analysis of the gene “suppression on of tumorigenicity 13” (ST13). ST13… Expand
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Highly Cited
2006
Highly Cited
2006
Loss of the tissue-specific proapoptotic BH3-only protein Nbk/Bik is a unifying feature of renal cell carcinoma
We report for the first time inactivation of a tissue-specific Bcl-2 homology domain 3 (BH3)-only protein as a common aspect in… Expand
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2005
2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
The 22q13 deletion syndrome is associated with global developmental delay, absent or delayed speech, and generalised hypotonia… Expand
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Highly Cited
2004
Highly Cited
2004
Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia
SummaryFrom the chromosomal analysis of 9461 lymphocytes from 57 patients affected by ataxia telangiectasia, it is concluded that… Expand
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2001
2001
Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation.
An expression sequence tag identified in a screen for genes upregulated by retinoic acid induced neuronal differentiation of the… Expand
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Highly Cited
1999
Highly Cited
1999
Common regions of deletion on chromosome 22q12.3-q13.1 and 22q13.2 in human astrocytomas appear related to malignancy grade.
Approximately 30% of human astrocytomas have been reported to display allelic loss of the long arm of chromosome 22, suggesting… Expand
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