Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.16 (calcineurin)
 17,112 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also noted at birth. Characteristic facial features include medial flare eyebrows, dysmorphic helix of the right ear, cupshaped left ear, anteverted nares, long and smooth philtrum, thin upper lip, high vaulted palate. Array-CGH analysis demonstrated the presence of a 2.6 Mb deletion in 6q24.3-25.1. The phenotypic features of this case are very similar to those previously reported in a patient with a 7Mb overlapping deletion, pointing to a specific new syndrome. Twenty-two genes are present in the common critical deleted region. Among them, there is the PPP1R14C gene that encodes for KEPI, a PKC-potentiated inhibitory protein for type-1 Ser/Thr protein phosphatase. Its selective distribution in brain and heart well correlates with developmental delay and cardiac anomalies observed in the patient.
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PMID:A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears. 1751 13

The aim of this study was to define copy number alterations in a rare laryngeal type basaloid squamous cell carcinoma (laryngeal BSCC) using high throughput array comparative genomic hybridization. This is the first genome wide screening of a laryngeal BSCC describing the unique events of DNA copy number changes. By Nimble-Gen Whole Genome Tiling Array CGH (consisting of 72,000 probes) we were able to identify 3,777 genes altered by copy number changes (1,726 genes with copy number gains and 2,051 genes with copy number with losses). The resolution of the array allowed us to identify a new alteration at the 17q21.31 region covering the DUSP3 gene which encodes the dual-specific protein phosphatase. Functional studies of the altered genes (Database for Annotation, Visualization and Integrated Discovery v6.7 analysis) highlighted molecular pathways including chemokine signaling, cell cycle, adherent junction-, VEGF- and TGF-beta signaling pathways that might be disrupted by copy number alterations in laryngeal BSCC.
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PMID:Array CGH analysis of the rare laryngeal basaloid squamous cell carcinoma: a case report. 2307 66