PurposeTo retrospectively analyze the clinical characteristics of patients who were screened for mutations with the ATP-binding cassette transporter gene ABCA4 (ABCA4) microarray in a routine clinical DNA diagnostics setting.MethodsWe performed a retrospective analysis of ...

The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins, which transport a variety of substrates across membranes. The ABCA4 protein is expressed in photoreceptors and possibly functions as a transporter for N-retinylidene-phosphatidylethanolamine (N-retinylidene-PE), the Schiff base adduct of all-trans-retinal with PE. Mutations in the ABCA4 gene have been ...

The aim of this study was to characterize the pathological and functional consequences of the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were retrospectively reviewed and all the patients had at least one G1961E mutation. Comprehensive ophthalmic examination, full-field and pattern electroretinograms, and fundus ...

AimTo determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's?eye maculopathy (BEM).MethodsA panel of 49 subjects (comprising 40 probands/families, 7 sibling pairs and a set of three sibs) with BEM, not attributable to toxic causes, was ascertained. Blood samples from each patient were used to extract genomic ...

988876678767666666666677766545454333344434323322221122342112345566655555566657667888788988777887777788899 ;?ABCA4.//3666546133324321122223210,.3563215?@? ...

PurposeTo find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases.MethodsOne hundred and sixty eight patients who had been clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other ABCA4-associated phenotypes, were ...

lines used in the National Cancer Institute's screen for anti-cancer drugs � standard cell lines fromMicroarray applications for the study of cancer By Jake Youngberg #12;Overview � Brief overview of cancer biology � Review of how microarrays work � Theoretical basis of microarrays � Diagnostics

... @ABCA4@? ACCDDCDDEDEDCCDEDEEEFEEEGGGFFGFFEEFGGHJKKLKLLKLLLKJMNONRQPRTRUQSSSTSTTVUVVSSUWSWWWWX [Y\\[]^_^aa^abbcccedkhdhhjmprsrqqqstuwvzty||~~} ~}qteaID,) ...

PurposeTo identify the disease-causing genes in families with autosomal recessive RP (ARRP).MethodsFamilies were screened for homozygosity at candidate gene loci followed by screening of the selected gene for pathogenic mutations if homozygosity was present at a given locus. A total of 34 families were included, of which 24 were consanguineous. ...

Provided is a microarray platform for the culture of cells atop combinatorial matrix mixtures; enabling the study of differentiation in response to a multitude of microenvironments in parallel.

The sandwich ELISA microarray is a powerful screening tool in biomarker discovery and validation due to its ability to simultaneously probe for multiple proteins in a miniaturized assay. The technical challenges of generating and processing the arrays are numerous. However, careful attention to possible pitfalls in the development of your antibody ...

ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as the Rim protein and ABCR, is a large 2,273 amino acid glycoprotein organized as two tandem halves, each containing a single membrane ...

ABCA4 is a member of the ABCA subfamily of ATP binding cassette (ABC) transporters that is expressed in rod and cone photoreceptors of the vertebrate retina. ABCA4, also known as the Rim protein and ABCR, is a large 2273 amino acid glycoprotein organized as two tandem halves, each containing a single membrane ...

ABCA4)06>EGFEGHHG;:77/4;;564677349

ABCA4@O@??=><#8?=N830/-4798::64431/..0/0245876670/,,,1-*((&&'$#! !"#$%'''))**,- 2.3-! MMOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOM ...

We have developed a microarray of cell culture environments composed of a combination of soluble factors and extracellular matrices for screening of cell culture environment. PMID:21076778

BackgroundA genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were selected and evaluated as potential candidate genes associated with day blindness in the breed.ResultsThree of the genes, CNGB3, CNGA3 and GNAT2, ...

Microarrays of spotted PCR amplified cDNA, or gene-specific oligomers, allow one to screen for differential gene expression by comparing mRNA abundance from different tissues. We are using soybean microarrays to screen for gene expression affected by plant association with pathogenic and symbiotic m...

to identify aneuploidies in array CGH datasets and to screen gene To whom correspondence should be addressed to microarray datasets. ChARM allows routine screening of gene expression data for aneuploidies and is sensitiveARM is used to screen for aneuploidies only, gene expression microarray ...

The gene ABCA4 encodes the rod and cone photoreceptor Rim protein, which is a transmembrane transporter of vitamin A intermediates. ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod ...

... Microarrays have been performed to determine differences in gene expression between heterozygotes or homozygotes for the T7271 G mutation ...

Large-scale analysis of gene expression using cDNA microarrays promises the rapid detection of the mode of toxicity for drugs and other chemicals. cDNA microarrays were used to examine chemically-induced alterations of gene expression in HepG2 cells exposed to oxidative ...

An enzyme-linked immunosorbent assay (ELISA) microarray was developed for the specific and sensitive detection of botulinum neurotoxin A (BoNT/A), using high-affinity recombinant monoclonal antibodies against the receptor binding domain of the heavy chain of BoNT/A. The ELISA microarray assay, because of its sensitivity, offers a ...

B:ABCA4==<:>>@AD??>G@>A@FHCCD?8AA@A:A;?>?DBA@B> ?@>A@B?==D:BC=DE??ADB?;9:=>=FE>;88ADDC?;=;997<@? ...

cancers or benign conditions. Studies on new technology involving generation of proteomic spectra of serum, 11810-11813 (1995). Using sera from cancer patients to isolate autoantigens by screening cDNA libraries

Over the last 10 years, DNA microarrays have achieved a robust analytical performance, enabling their use for analyzing the whole transcriptome or for screening thousands of single-nucleotide polymorphisms in a single experiment. DNA microarrays allow scientists to correlate gene expression signatures with disease progression, to ...

Enzyme-linked immunosorbent assay (ELISA) is a standard immunoassay to predict a protein concentration in a sample. Deploying ELISA in a microarray format permits simultaneous prediction of the concentrations of numerous proteins in a small sample. These predictions, however, are uncertain due to processing error and biological variability. Evaluating prediction error is ...

Here we describe lentivirus-infected cell microarrays for the high-throughput screening of gene function in mammalian cells. To create these arrays, we cultured mammalian cells on glass slides 'printed' with lentiviruses pseudotyped as vesicular stomatitis virus glycoprotein, which encode short hairpin RNA or cDNA. Cells that land on the printed 'features' ...

As ever more protease sequences are uncovered through genome sequencing projects, efficient parallel methods to discover the potential substrates of these proteases becomes crucial. Herein we describe the first use of fluorous-based microarrays to probe peptide sequences and begin to define the scope and limitations of fluorous microarray technologies for ...

The turn of the century witnessed the development of small molecule, protein, cell and tissue microarrays, heralding a new era of discovery-driven research using a host of different chemical libraries, biomolecules and tissue types. This highlight takes stock of this first decade of small molecule microarrays (SMMs) and describes how the technology has ...

Purpose.To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone�rod dystrophy (CRD) patients.Methods.One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety of them were screened for known mutations in ABCA4, and those carrying one or two mutations were excluded from further research. ...

The ABCA4 (ABCR) gene encodes a retinal-specific ATP-binding cassette transporter. Mutations in ABCA4 are responsible for several recessive macular dystrophies and susceptibility to age related macular degeneration (AMD). The protein appears to function as a flippase of all-trans-retinaldehyde and/or its derivatives across the membrane of outer segment disks and is a potentially important element ...

ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters, which has been implicated in the clearance of all-trans retinal derivatives from rod and cone photoreceptor cells following photoexcitation as part of the visual cycle. Mutations in ABCA4 are known to cause Stargardt macular degeneration and related disorders, associated with ...

producing a large col- lection of encoded compounds constructed with distinct mo- lecular structures, and 2 of 4608 bi- otinylated OBOC compounds is used to anchor the molecule on the streptavidin-coated glassScreening small-molecule compound microarrays for protein ligands without fluorescence labeling

The combination of trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based technology for comprehensive chromosome screening results in high implantation and live birth rates that could contribute to the practical application of single embryo transfer for infertility patients. PMID:21782169

Traditional high-throughput screening (HTS) is carried out in centralized facilities that require extensive robotic liquid and plate handling equipment. This model of HTS is restrictive as such facilities are not accessible to many researchers. We have designed a simple microarray platform for cell-based screening that can be carried ...

Many studies estimate that chromosomal mosaicism within the cleavage-stage human embryo is high. However, comparison of two unique methods of aneuploidy screening of blastomeres within the same embryo has not been conducted and may indicate whether mosaicism has been overestimated due to technical inconsistency rather than the biological phenomena. The present study ...

Many studies estimate that chromosomal mosaicism within the cleavage-stage human embryo is high. However, comparison of two unique methods of aneuploidy screening of blastomeres within the same embryo has not been conducted and may indicate whether mosaicism has been overestimated due to technical inconsistency rather than the biological phenomena. The present study ...

Congenital hearing loss (HL) is the most common sensory disorder in humans, affecting one in 1000 infants at birth. A high degree of genetic heterogeneity makes it difficult to screen for mutations in all known deafness genes in clinical applications. We have improved a genotyping microarray using the multiplex PCR-based allele-specific primer extension ...

Gene expression microarrays have become an important exploratory tool in many screening experiments that aim to discover the genes that change expression in two or more biological conditions and can be used to build molecular profiles for both diagnostic and prognostic use. The still very high costs of microarrays and the difficulty in ...

Microarray-based Comparative Genomic Hybridization (array-CGH) has been applied for a decade to screen for submicroscopic DNA gains and losses in tumor and constitutional DNA samples. This method has become increasingly flexible with the integration of new biological resources generated by genome sequencing projects. In this chapter, we describe ...

DNA microarray technology is revolutionizing biological science. DNA microarrays (also called DNA chips) allow simultaneous screening of many genes for changes in expression between different cells. Now researchers can obtain information about genes in days or weeks that used to take months or years. The paper activity described in ...

BackgroundEnzyme-linked immunosorbent assay (ELISA) is a standard immunoassay to estimate a protein's concentration in a sample. Deploying ELISA in a microarray format permits simultaneous estimation of the concentrations of numerous proteins in a small sample. These estimates, however, are uncertain due to processing error and biological variability. Evaluating estimation ...

ABCA4 is a photoreceptor-specific ATP-binding cassette transporter implicated in the clearance of all-trans-retinal produced in the retina during light perception. Multiple mutations in this protein have been linked to Stargardt disease and other visual disorders. Here we report the first systematic study of posttranslational modifications in native ...

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype-phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding ...

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype�phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human ...

Despite the controversy of whether genetically modified organisms (GMOs) are beneficial or harmful for humans, animals, and/or ecosystems, the number of cultivated GMOs is increasing every year. Many countries and federations have implemented safety and surveillance systems for GMOs. Potent testing technologies need to be developed and implemented to monitor the increasing number of GMOs. First, ...

Microarrays allowing simultaneous analysis of thousands of parameters can significantly accelerate screening of large libraries of pharmaceutical compounds and biomolecular interactions. For large-scale studies on diverse biomedical samples, reliable, label-free, and high-content microarrays are needed. In this work, using large-area ...

BackgroundHigh-throughput RNAi screening is widely applied in biological research, but remains expensive, infrastructure-intensive and conversion of many assays to HTS applications in microplate format is not feasible.ResultsHere, we describe the optimization of a miniaturized cell spot microarray (CSMA) method, which facilitates utilization of the ...

Although protein microarrays have proven to be an important tool in proteomics research, the technology is emerging as useful for public health and defense applications. Recent progress in the measurement and characterization of biothreat agents is reviewed in this chapter. Details concerning validation of various protein microarray formats, from ...

The possibility to miniaturize and parallelize biological assays has a great impact on the development of biomedical technologies. Here, we describe a simple, miniaturized, and parallelized method employing entire cells from different cell lines displaying a protein of interest on their surface, which were immobilized on a microarray slide. Antibodies were added to these ...

Microarray technology has received considerable attention for rapid analysis of biomolecular interactions and high-throughput screening to identify binding partners. An efficient and selective immobilization technique of substances on the surface is essential for successful construction of microarrays. Although a variety of ...

To screen many small molecules at once, microarray technology is useful. Automated devices have made it possible for thousands of different small molecules to be printed as an array of spots on a glass slide. A single type of protein which has been tagged with a fluorescent marker can then be washed across the array. Any small molecule that binds to the ...

Receptor Tyrosine Kinases (RTKs) have been identified as potential targets for both breast cancer prognosis and therapy. We proposed use of tissue microarrays to evaluate the prognostic value of RTKs with emphasis on the phosphorylation status of these re...

Receptor Tyrosine Kinases (RTKs) have been identified as potential targets for both breast cancer prognosis and therapy. We proposed use of tissue microarrays to evaluate the prognostic value of RTKs with emphasis on the phosphorylation status of these re...

Receptor Tyrosine Kinases (RTKs) have been identified as potential targets for both breast cancer prognosis and therapy. We proposed use of tissue microarrays to evaluate the prognostic value of RTKs with emphasis on the phosphorylation status of these re...

We have developed novel microarray technology for performing large numbers (up to 106) of chemical and cell-based assays in parallel. This technology is particularly relevant to the high-throughput screening methods used by the pharmaceutical industry to identify potential drug candidates. In this paper we provide an overview of the system and its enabling ...

During the course of the project four software tools for BioSPICE were developed. These include Network Component Analysis (NCA), GeneScreen, 1cDNA, and MIcroArray Experimental Spice (MIAMESpice). NCA uses available connectivity information between genes ...

.S.) cent per base [5]. Even for a relatively simple community study on the drainage region of an acid mine the resulting transformed bacteria [8]. Screening may occur on the basis of gene expression using mi- croarrays.1 Microarrays Microarrays [14] permit the study of gene expression and the detection of mu- tations. "Similar

attainable using microarrays (in parallel screening). Alanine-scanning, deletion and positional- ial libraries, namely alanine-scanning (where alanine is systematically substituted in substrate in replicates of five and reacted with p60c-src kinase. 1� 6 Deletion libraries (red), 7�13 Alanine

ATP-binding cassette transporters (ABC transporters) utilize the energy of ATP hydrolysis to translocate an unusually diverse set of substrates across cellular membranes. ABCA4, also known as ABCR, is a ~250 kDa single-chain ABC transporter localized to the disk margins of vertebrate photoreceptor outer segments. It is composed of two symmetrically ...

Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribution of individual alleles because relatively few affected individuals share the same two ...

Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribution of individual alleles because relatively few affected individuals share the same two ...