Disease relevance of DGCR14

• Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region [1].
• Our findings raise the possibility that pericranial muscle tenderness is present early in the development of tension headache, while ES2 suppression only emerges later in the evolution of the disorder [2].
• The second exteroceptive suppression of masseter muscle activity (ES2) and tenderness in pericranial muscles were evaluated in 112 young adults who met IHS criteria in the following diagnostic classifications: 31 chronic tension headache, 31 episodic tension headache, 33 migraine without aura and 17 migraine with aura [2].
• A protein molecular weight map of ES2 clear cell ovarian carcinoma cells using a two-dimensional liquid separations/mass mapping technique [3].
• Consistent asymmetries of ES2 latency and duration were not found among patients with (unilateral) cervicogenic headache [4].

Psychiatry related information on DGCR14

• ES2 produced by four times the sensory threshold was lengthened after tizanidine administration [5].
• ES2 is of limited usefulness for separating chronic tension-type headache and chronic drug-abuse headache, possibly because the latter group comprises both tension-type headache and migraine patients [6].
• Brainstem and spinal pathways of untreated patients with idiopathic restless legs syndrome (RLS) were examined using magnetic resonance imaging (MRI), blink reflex, first and second exteroceptive suppression (ES1, ES2) of temporalis muscle, and H reflex [7].

High impact information on DGCR14

• ES2 is a gene deleted in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) which has homologs in species as distant as Caenorhabditis elegans and Drosophila . The function of ES2 is unknown, and the predicted protein sequence does not contain motifs which suggest a particular role in the developmental defects present in DGS and VCFS [8].
• The corresponding murine Dgsi has been isolated and localized to proximal mouse chromosome 16 [1].
• DGSI has 10 exons and nine introns encompassing 1702 bp of cDNA sequence and 11 kb of genomic DNA [1].
• The mouse gene contains the same number of exons and introns, and the predicted protein has 479 amino acids with 93.2% identity to that of the human DGSI gene [1].
• Here, we evaluated their DNA and histone epigenetic modifications in five ovarian epithelial and carcinoma cell lines (human 'immortalized' ovarian surface epithelium (HIO)-117, HIO-114, A2780, SKOV3 and ES2) [9].

Chemical compound and disease context of DGCR14

• Treatment with sumatriptan during the migraine attack was accompanied by a significant increase in the duration of ES2 (p < or = 0.05), but no significant changes in the durations of the late suppression periods were observed under any other conditions [10].

Biological context of DGCR14

• Recent research has suggested that the DiGeorge syndrome critical region gene 14 (DGCR14) exhibits activity differences of more than 1.5 fold between the haplotypes of the variants in the promoter region [11].
• Hydrolysis of peptides by carboxypeptidase A: equilibrium trapping of the ES2 intermediate [12].
• The substrate, porphobilinogen, binds to the active-site dipyrromethane cofactor to form three intermediate complexes: ES, ES2 and ES3 [13].
• The latency of R1, R2, and R2', the amplitude and size of the R2 and R2' components of the blink reflex, the latency and duration of the ES1 and ES2 components, and the recovery curve of the ES2 component of the temporalis muscle activity did not differ between groups [14].
• The results confirm conserved synteny of the loci DGS-I, CTP, D22S788 (N41), and IGLC on the telomeric end of canine chromosome 26 (CFA26) [15].

Anatomical context of DGCR14

• In experiment 1 painful infusion of hypertonic saline caused a significantly later onset latency of ES2 in the left masseter muscle during the late phase of infusion compared to pre-infusion values (P < 0.05) [16].
• They suggest that the changes observed in tension-type headache are due to hyperexcitability of the reticular nuclei which inhibit the medullary inhibitory interneurons mediating ES2 [17].
• A two-dimensional liquid phase separation of proteins from whole cell lysates coupled on-line to an electrospray-ionization time-of-flight (ESI-TOF) mass spectrometer (MS) is used to map the protein content of ovarian surface epithelial cells (OSE) and an ovarian carcinoma-derived cell line (ES2) [18].
• Furthermore, there seems to be a differential and lateralized effect of jaw-muscle pain on the brain stem reflex circuits involved in the generation of ES1 and ES2 probably through a presynaptic mechanism [16].
• Maximal ES2 lengthening (115-145%) was observed when upper limb nerve stimulation followed that of the Mt by 10 ms [19].

Associations of DGCR14 with chemical compounds

• Isotonic saline did not influence the ES1 or ES2 [16].
• NMR spectroscopy of the ES2 complex confirmed a PBG-derived head-to-tail dipyrromethane attached to the alpha-free pyrrole position of the enzyme [20].
• First ES1 and ES2 were measured (stimulus intensity 20 mA, stimulus duration 0.2 ms, stimulation frequency 2 Hz, averaging of 10 responses), then the medication was given on a double-blind basis with an autoinjector using either 6 mg sumatriptan or a placebo solution [10].
• Capsaicin alone failed to induce significant changes of ES1 and ES2; tactile stimulation alone induced a significant delay in the onset of ES2 (P < 0.001) [21].
• STUDY AIM: There is evidence that the second exteroceptive suppression period of temporalis muscle activity (ES2) is modulated by the 5-HT neuronal activity in the brainstem, and the aggression trait is also connected with the cerebral 5-HT neuronal innervation [22].

Analytical, diagnostic and therapeutic context of DGCR14

• Onset and offset latencies and duration of early and late components of masseter ES (ES1 and ES2, respectively) were evaluated in control conditions and compared to those obtained when a non-noxious electrical stimulation was delivered separately to Med or Rad or simultaneously to both nerves (Med-Rad) of one side [19].
• None of the headache patients had ES2 durations below the control group range [4].
• The effects of noxious and non-noxious limb stimulations on the second exteroceptive suppression of voluntary temporalis muscle activity (ES2) were studied in healthy human volunteers [23].

References