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Article

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.

Human molecular genetics - 15 Oct 2016

Lania Gabriella, Bresciani Alberto, Bisbocci Monica, Francone Alessandra, Colonna Vincenza, Altamura Sergio, Baldini Antonio

Abstract excerpt

Abstract: Pathological conditions caused by reduced dosage of a gene, such as gene haploinsufficiency, can potentially be reverted by enhancing the expression of the functional allele. In practice, low specificity of therapeutic agents, or their toxicity reduces their clinical applicability. Here, we have used a high throughput screening (HTS) approach to identify molecules capable of increasing the expression of...

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Identifiers

PMID: 28173146
DOI: 10.1093/hmg/ddw267
PMCID: PMC5409220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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