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2q31.2

Part of the chromosome bands present on the long (q) arm of chromosome 2.
National Institutes of Health

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Related topics

2 relations
ChromosomesHNRPA3 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Nrf2 at the heart of oxidative stress and cardiac protection.
The NFE2L2 gene encodes the transcription factor Nrf2 best known for regulating the expression of antioxidant and detoxification… Expand
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Review
2018
Review
2018
Genetics of Cushing's Syndrome.
The knowledge on the molecular and genetic causes of Cushing's syndrome (CS) has greatly increased in the recent years. Somatic… Expand
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2016
2016
Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder
Lithium is the mainstay prophylactic treatment for bipolar disorder (BD), but treatment response varies considerably across… Expand
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2014
2014
Genome‐Wide Copy Number Variation Analysis Identifies Deletion Variants Associated With Ankylosing Spondylitis
To identify ankylosing spondylitis (AS)–associated copy number variations (CNVs) in Korean subjects and their synergistic roles… Expand
2014
2014
DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family
Recessive DYT16 dystonia associated with mutations in PRKRA has until now been reported only in seven Brazilian patients. The aim… Expand
2009
2009
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
We describe a patient with an abnormal phenotype and a de novo CCR consisting of a reciprocal translocation between chromosomes 1… Expand
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Highly Cited
2008
Highly Cited
2008
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
BACKGROUND Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations… Expand
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2008
2008
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes
Background: Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size… Expand
2007
2007
Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH
We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q31.2‐2q32.3. The… Expand
2007
2007
Novel mutations in the pejvakin gene are associated with autosomal recessive non‐syndromic hearing loss in Iranian families
To the Editor: Hearing loss is a very heterogeneous disorder and may be due to genetic or environmental causes, or both. The… Expand
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