An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis

2017 ◽  
Vol 28 (2) ◽  
pp. 253-255
Author(s):  
Edward Bloch ◽  
Maria Pefkianaki ◽  
Jamil Hakim
Keyword(s):  
Unusual Case ◽  
Systemic Disease ◽  
Gene Array ◽  
Anterior Segment ◽  
Clinical Findings ◽  
Array Analysis ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
Pigmented Lesions ◽  
Gene Array Analysis

Purpose: Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome. Case report: A 49-year-old woman presented with longstanding reduction in vision, evidence of anterior segment dysgenesis, and multiple discrete pigmented lesions throughout the macula bilaterally. Electroretinographic findings were consistent with severe macular dysfunction. Gene array analysis did not reveal any chromosomal imbalances or other specific abnormalities. Conclusions: This is a unique case of bilateral pigmentary maculopathy and anterior segment dysgenesis, with clinical findings that are not characteristic of previously reported disease.

scholarly journals DICER1 and PRKRA in Colon Adenocarcinoma

2008 ◽  
Vol 3 ◽  
pp. BMI.S600 ◽  
Author(s):  
S. Chiosea ◽  
M. Acquafondata ◽  
J. Luo ◽  
SF. Kuan ◽  
RR. Seethala
Keyword(s):  
Rna Interference ◽  
Gene Array ◽  
Colon Adenocarcinoma ◽  
Clinicopathologic Features ◽  
Array Analysis ◽  
Gene Array Analysis ◽  
Microrna Profile ◽  
The Status ◽  
And Function ◽  
Dicer1 Expression

Differential microRNA expression in colon adenocarcinoma (CA) was previously reported. MicroRNA biogenesis and function requires a set of proteins designated as the microRNA machinery, which includes DICER1 and PRKRA. Loss of heterozygosity at 14q32.13 DICER1 locus was detected in up to 60% of CA cases. The in silico gene array analysis of CA showed down-regulation of DICER1 and an up-regulation of PRKRA. Immunohistochemically, DICER1 expression was abnormal in 65% of CA (95 of 147 cases). PRKRA was deregulated in 70% of CA (32 of 46 cases). Expression of DICER1 and PRKRA was correlated with clinicopathologic features of CA. DICER1 up-regulation was seen more commonly in women. Only 10 of 46 cases immunostained for both DICER1 and PRKRA showed normal levels of both DICER1 and PRKRA. Microsatellite status of 32 cases was determined. Microsatellite instable cases showed DICER1 up-regulation more commonly when compared to microsatellite stable cases; however, this trend was not statistically significant. Abnormal DICER1 and/or PRKRA expression might explain the observed changes in microRNA profile. The status of the endogenous DICER1 and PRKRA in CA may help to predict the response to future RNA interference-based therapy.

Stability of gene expression in postmortem brain revealed by cDNA gene array analysis

2002 ◽  
Vol 942 (1-2) ◽  
pp. 120-123 ◽  
Author(s):  
Stacey A. Trotter ◽  
Louis B. Brill II ◽  
James P. Bennett
Keyword(s):  
Gene Expression ◽  
Gene Array ◽  
Postmortem Brain ◽  
Array Analysis ◽  
Gene Array Analysis

Gene array analysis of the expression profile associated with intestinal cell differentiation

2001 ◽  
Vol 120 (5) ◽  
pp. A88
Author(s):  
Qingding Wang ◽  
Robert Thomas ◽  
Nan Li ◽  
Xiaofu Wang ◽  
B. Mark Evers
Keyword(s):  
Cell Differentiation ◽  
Expression Profile ◽  
Gene Array ◽  
Intestinal Cell ◽  
Array Analysis ◽  
Gene Array Analysis

scholarly journals Gene array analysis reveals a common Runx transcriptional programme controlling cell adhesion and survival

Oncogene ◽  
2008 ◽  
Vol 27 (44) ◽  
pp. 5856-5866 ◽  
Author(s):  
S Wotton ◽  
A Terry ◽  
A Kilbey ◽  
A Jenkins ◽  
P Herzyk ◽  
...  
Keyword(s):  
Cell Adhesion ◽  
Gene Array ◽  
Array Analysis ◽  
Gene Array Analysis

scholarly journals Lgr4 in Ocular Development and Glaucoma

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Stefan Siwko ◽  
Li Lai ◽  
Jinsheng Weng ◽  
Mingyao Liu
Keyword(s):  
Anterior Segment ◽  
Cell Loss ◽  
Retinal Ganglion ◽  
Leucine Rich Repeat ◽  
Full Understanding ◽  
Ocular Development ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
G Protein Coupled ◽  
Retinal Vascularization

The leucine-rich repeat-containing G protein-coupled receptor 4 (LGR4, also called GPR48) plays a key role in multiple developmental processes, and mice lackingLgr4display anterior segment dysgenesis leading to early-onset glaucomatous retinal ganglion cell loss as well as defective eyelid formation. This paper will review Lgr4 signaling and its regulation of the Axenfeld-Rieger syndrome genePitx2, a crucial developmental transcription factor. In addition, Wnt signaling plays an important role in eye development, with Norrin functioning to activate the Wnt receptor Frizzled 4 required for proper retinal vascularization. Recent discoveries identifying Lgr4 as a receptor for Norrin highlight the potential for Lgr4 function in retinal vascularization. Finally, several unanswered questions impeding a full understanding of Lgr4 in glaucoma are considered as avenues for further research.

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