Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements.

doi:10.1080/15622975.2017.1395072

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Article

Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements.

The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry - 1 Feb 2019

Piluso Giulio, Monteleone Palmiero, Galderisi Silvana, Giugliano Teresa, Bertolino Alessandro, Rocca Paola, Rossi Alessandro, Mucci Armida, Aguglia Eugenio, Andriola Ileana, Bellomo Antonello, Comparelli Anna, Gambi Francesco, Fagiolini Andrea, Marchesi Carlo, Roncone Rita, Sacchetti Emilio, Santonastaso Paolo, Siracusano Alberto, Stratta Paolo, Tortorella Alfonso, Steardo Luca, Bucci Paola, Nigro Vincenzo, Maj Mario

Abstract excerpt

OBJECTIVES: Variants appearing de novo in genes regulating key neurodevelopmental processes and/or in non-coding cis-regulatory elements (CREs), as enhancers, may increase the risk for schizophrenia. However, CREs involvement in schizophrenia needs to be explored more deeply. METHODS: We investigated de novo copy-number variations (CNVs) in the whole-genomic DNA obtained from 46 family trios of schizophrenia...

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Identifiers

PMID: 29069978
DOI: 10.1080/15622975.2017.1395072

Genes

CNTNAP2
MAGI1
MET
TSPAN7
ZIC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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