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70 results about "Diagnostic screening" patented technology
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Screening tests are not diagnostic tests. The primary purpose of screening tests is to detect early disease or risk factors for disease in large numbers of apparently healthy individuals.
Microfluidic devices for the controlled manipulation of small volumes
A method for conducting a broad range of biochemical analyses or manipulations on a series of nano- to subnanoliter reaction volumes and an apparatus for carrying out the same are disclosed. The invention is implemented on a fluidic microchip to provide high serial throughput. In particular, the disclosed device is a microfabricated channel device that can manipulate nanoliter or subnanoliter reaction volumes in a controlled manner to produce results at rates of 1 to 10 Hz per channel. The reaction volumes are manipulated in serial fashion analogous to a digital shift register. The invention has application to such problems as screening molecular or cellular targets using single beads from split-synthesis combinatorial libraries, screening single cells for RNA or protein expression, genetic diagnostic screening at the single cell level, or performing single cell signal transduction studies.
Owner:UT BATTELLE LLC
Cardiovascular imaging and functional analysis system
Owner:NORTH COAST IND INC
Detection of genetic or molecular aberrations associated with cancer
ActiveUS8741811B2Improve accuracyImprove efficiencyMicrobiological testing/measurementLibrary screeningCell freeAfter treatment
Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and / or amplifications in a tumor. Multiple loci are used for each chromosomal region. Such imbalances can then be used to diagnose (screen) a patient for cancer, as well as prognosticate a patient with cancer, or to detect the presence or to monitor the progress of a premalignant condition in a patient. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).
Owner:THE CHINESE UNIVERSITY OF HONG KONG
Microfluidic devices for the controlled manipulation of small volumes
A method for conducting a broad range of biochemical analyses or manipulations on a series of nano- to subnanoliter reaction volumes and an apparatus for carrying out the same are disclosed. The invention is implemented on a fluidic microchip to provide high serial throughput. In particular, the disclosed device is a microfabricated channel device that can manipulate nanoliter or subnanoliter reaction volumes in a controlled manner to produce results at rates of 1 to 10 Hz per channel. The reaction volumes are manipulated in serial fashion analogous to a digital shift register. The invention has application to such problems as screening molecular or cellular targets using single beads from split-synthesis combinatorial libraries, screening single cells for RNA or protein expression, genetic diagnostic screening at the single cell level, or performing single cell signal transduction studies.
Owner:UT BATTELLE LLC
Systems and methods for characterization of molecules
InactiveUS20060269964A1Molecular entity identificationBiological testingMolecular compositionLiquid liquid partition
The present invention generally provides systems and methods for the detection, identification, or characterization of differences between properties or behavior of corresponding species in two or more mixtures comprised of molecules, including biomolecules and / or molecules able to interact with biomolecules, using techniques such as partitioning. The experimental conditions established as distinguishing between the mixtures of the molecules using the systems and methods of the invention can also be used, in some cases, for further fractionation and / or characterization of the biomolecules and / or other molecules, using techniques such as single-step or multiple-step extraction, and / or by liquid-liquid partition chromatography. The methods could also be used for discovering and identifying markers associated with specific diagnostics, and can be used for screening for such markers once discovered and identified during diagnostics screening.
Owner:ANALIZA
Systems and methods for characterization of molecules
InactiveUS20070128618A1Molecular entity identificationMicrobiological testing/measurementLiquid liquid partitionFractionation
The present invention generally provides systems and methods for the detection, identification, or characterization of differences between properties or behavior of corresponding species in two or more mixtures comprised of molecules, including biomolecules and / or molecules able to interact with biomolecules, using techniques such as partitioning. The experimental conditions established as distinguishing between the mixtures of the molecules using the systems and methods of the invention can also be used, in some cases, for further fractionation and / or characterization of the biomolecules and / or other molecules, using techniques such as single-step or multiple-step extraction, and / or by liquid-liquid partition chromatography. The methods could also be used for discovering and identifying markers associated with specific diagnostics, and can be used for screening for such markers once discovered and identified during diagnostics screening.
Owner:ANALIZA
Lupus anticoagulant testing
InactiveUS20070026467A1Improve matchEasy to detectSamplingDead animal preservationSystemic lupus erythematosusBlood plasma
The present invention relates generally to the field of diagnostic screening and diagnostic assays. In particular, the present invention provides an improved, rapid, and efficient method of screening for antiphospholipid antibodies, such as lupus anticoagulants (LA). The invention also relates to a kit for screening plasma levels for antiphospholipid antibodies in subjects in need thereof, such as those at risk for or suffering from, inter alia, antiphospholipid syndrome (APS) and systemic lupus erythromatosus (SLE).
Owner:BIOMEDICA DIAGNOSTICS INC
Regulators of protein misfolding and aggregation and methods of using the same
InactiveUS20070204352A1Increase in protein misfoldingPromote aggregationCompound screeningNervous disorderCell AggregationsNucleotide
Polynucleotide molecules and the proteins encoded by the molecules, diagnostic and treatment methods for neurological disorders characterized by protein aggregation are provided. Genes are described herein that affect the misfolding of, and subsequent aggregation of, aggregation-prone proteins such as alpha-synuclein and have implications for the diagnosis and treatment of neurological diseases related to protein aggregation such as Parkinson's disease. Knockdown of expression of the genes described herein using RNAi results in alpha-synuclein protein aggregation in a C. elegans model of protein aggregation. Dopaminergic neuroprotection after exposure to the neurotoxin 6-OHDA or overexpression of alpha-synuclein may also be provided by overexpression of proteins. Knowledge of genes relating to protein misfolding and aggregation provides powerful means to develop diagnostic screening methods, mutation analysis and drug design information for the development of novel therapeutic and neuroprotective compounds to treat neurodegenerative diseases such as Parkinson's disease.
Owner:UNIVERSITY OF ALABAMA
Systems and methods involving data patterns such as spectral biomarkers
ActiveUS20070198194A1Biological testingSpecial data processing applicationsFractionationNatural abundance
The present invention is generally related to the separation, fractionation, and / or characterization of molecules and / or biomolecules in one or more mixtures. After fractionation, different phases of a partitioning system can be analyzed via an analytical technique such as spectral analysis, chromatography, or the like, to produce a spectrum or other symbolic representation of the species after fractionation, and the spectra of the various fractions / phases compared to define a comparative spectrum as a marker or otherwise providing information about the sample, including such information that is independent of the original level of abundance of the molecules in the mixture. Comparative spectra of various samples can be compared to each other and / or to controls or reference spectra and / or comparative spectra to determine a variety of information. In some embodiments, the methods can be used for discovering and / or identifying patterns in a mixture of species and / or corresponding patterns of species in a second mixture, where each mixture of species originates from biological systems with different physiological conditions as markers associated with specific diagnostics, and can be used for screening for such markers once discovered and identified during diagnostics screening.
Owner:ANALIZA
Systems and methods for characterization of molecules
The present invention generally provides systems and methods for the detection, identification, or characterization of differences between properties or behavior of corresponding species in two or more mixtures comprised of molecules, including biomolecules and / or molecules able to interact with biomolecules, using techniques such as partitioning. The experimental conditions established as distinguishing between the mixtures of the molecules using the systems and methods of the invention can also be used, in some cases, for further fractionation and / or characterization of the biomolecules and / or other molecules, using techniques such as single-step or multiple-step extraction, and / or by liquid-liquid partition chromatography. The methods could also be used for discovering and identifying markers associated with specific diagnostics, and can be used for screening for such markers once discovered and identified during diagnostics screening.
Owner:ANALIZA
Method, marker, and kit used for colorectal cancer diagnosis, screening, and risk prediction
ActiveCN108315418AEasy to detectLow costMicrobiological testing/measurementDNA/RNA fragmentationCpG siteComputer module
The invention discloses a DNA methylation marker used for diagnosis, screening, and prediction of male colorectal cancer. The DNA methylation marker is obtained via methylation of a combination of thefirst groups, or the first group with the second group, or the third groups, (1), +22, +27, and +29; (2), -24,-18, +89, and +92; and (3) +136; of three CpG sites in the front and back sequence of gene RPS24 transcription start site. The sequence number is based on sequence number in SEQ ID NO.1. The 143th site transcription start site A is recorded as +1. The invention also discloses a probe, a method, and a kit used for detecting the DNA methylation marker, and a computer module used for prediction of male colorectal cancer risk using the data of the DNA methylation sites.
Owner:太科航天智能康养技术(深圳)有限责任公司
Application of mycobacterium tuberculosis protein in preparation of products used for diagnosis of latent tuberculosis infection
The invention provides mycobacterium tuberculosis protein Rv2693c and / or Rv1984c in development and / or designing of products capable of discrimination, diagnosis, auxiliary diagnosis, screening and / or auxiliary screening of latent tuberculosis infection. The invention further provides protein chips prepared from the two mycobacterium tuberculosis proteins. The protein chips prepared in the invention are used for detecting the levels of IgM antibodies respectively corresponding to the twp proteins in serum of a patient with latent tuberculosis infection and of a normal person, and detection results of the antibodies respectively corresponding to the three protein are analyzed together so as to determine whether an examined person suffers from latent tuberculosis infection; detection results show that optimal operating points of the protein chips provided by the invention in auxiliary diagnosis of latent tuberculosis infection have specificity of 80.3% and sensitivity of 75.6%, both higher than indexes of diagnosis of latent tuberculosis infection in the prior art.
Owner:TB HEALTHCARE BIOTECHNOLOGY (GUANGDONG) CO LTD
Application of mycobacterium tuberculosis proteins in preparation of products used for diagnosis of latent tuberculosis infection
The invention provides 13 mycobacterium tuberculosis proteins in development and / or designing of products capable of discrimination, diagnosis, auxiliary diagnosis, screening and / or auxiliary screening of latent tuberculosis infection. The invention further provides protein chips prepared from 13 mycobacterium tuberculosis protein antigens. The protein chips prepared in the invention are used for detecting the levels of IgG antibodies respectively corresponding to the 13 protein antigens in serum of a patient with latent tuberculosis infection and of a normal person, and detection results of the antibodies respectively corresponding to the three protein are analyzed together so as to determine whether an examined person suffers from latent tuberculosis infection; detection results show that optimal operating points of the protein chips provided by the invention in auxiliary diagnosis of latent tuberculosis infection have specificity of 89.4% and sensitivity of 80.6%, both higher than indexes of diagnosis of latent tuberculosis infection in the prior art.
Owner:广东希格生物科技有限公司
Molecular combination probe for diagnosing and screening chromosome microdeletion syndrome
InactiveCN103014142AEconomic screeningQuick screeningMicrobiological testing/measurementDNA/RNA fragmentationBiotechnologyPhosphorylation
The invention belongs to the technical field of biology, and particularly relates to a molecular combination probe for diagnosing and screening chromosome microdeletion syndrome. The molecular combination probe is used for selecting the key gene of the Williams syndrome, the 22q11 microdeletion syndrome, the Prader-Willi syndrome, the Angelman syndrome, the 15q13.3 microdeletion syndrome and the Rett syndrome, or the gene within a critical area, or the gens arranged at two ends within a duplication / deletion fragment, selecting the sequence which meets a corresponding condition as a probe sequence according to the sequence of the gene, and adding a general primer sequence and adding a phosphorylation mark to the 5'end of a probe left-half sequence and the 3'end of a right-half probe to prepare the combination probe for the multiple continuous probe amplification technology. According to the combination probe provided by the invention, the defects of the fluorescent quantitative PCR (polymerase chain reaction) can be overcome, a plurality of sequences can be analyzed for once, and the molecular combination probe is higher in resolution ratio, sensitivity and repeatability. The probe can be used for the clinical molecular diagnosing and screening of the six-chromosome microdeletion syndrome.
Owner:FUDAN UNIV
Methods, assays and kits for cancer diagnosis and screening utilizing glycan-binding and glycan epitopes
InactiveUS20100075344A1Highly reproducible resultImprove signal-to-noise ratioDisease diagnosisBiological testingCancer cellCancers diagnosis
The invention relates to the diagnosis, monitoring, prognosis, and / or prediction of cancer utilizing the detection or measurement of glycan-protein interactions, particularly glycan-antibody interactions. The invention relates to carbohydrate-containing molecules that are utilized in bioanalytical systems, methods and kits for detecting neoplasia and methods related thereto and based thereon. In an exemplary embodiment glycans or glycopolymers are carried in an array, on beads or in a microfluidic system for diagnostic screening for risk of neoplasia, the existence of neoplasia in a patient, or for treatment monitoring. In such an embodiment, the bioanalytic system identifies binding interactions between molecules in a patient test sample (e.g., glycan compositions) and the glycans or glycopolymers. The glycan-binding compositions may be used to generate an immune response against cancer cell epitopes. Alternatively, antibody therapeutics can be developed that are useful for binding to glycan compositions on a cell surface.
Owner:VUSKOVIC MARKO +1
Vagus nerve stimulation pre-screening test
Diagnostic screening tests that can be used to identify if a patient is a good candidates for an implantable vagus nerve stimulation device. One or more analyte, such as a cytokine or inflammatory molecule, can be measured from a blood sample taken prior to implantation of a vagus nerve stimulator to determine the patient's responsiveness to VNS for treatment of an inflammatory disorder.
Owner:SETPOINT MEDICAL CORP
Apparatus and method of personal screening for cervical cancer conditions in vivo
InactiveUS20040068162A1Early cancer detectionData generationSurgeryVaccination/ovulation diagnosticsGynecologyMenstrual cycle
A method and apparatus for personal screening for early signs of cervical cancer is claimed, whereby the user performs daily or almost daily a diagnostic self-check for some other aspect of reproductive health, and the electronic testing for cervical cancer type of tissue aberration is performed automatically in the background. The screening is invisible to the user, causing no anxiety and no discomfort. The user only becomes alerted to the need to see a physician if a preset condition of reproducibility is reached in the background evaluation of the measurement data if the aberrant pattern has been detected consecutively in a preset number of menstrual cycles, the device prompts the woman to see a physician with a view to undergoing a more demanding definitive diagnostic examination such as colposcopy with biopsy. The invention provides the diagnostic screen in a manner that does not cause the discomfort, anguish and anxiety associated with the Pap smear screen of the prior art.
Owner:KIRSNER VACLAV
Lupus anticoagulant testing
InactiveUS7932021B2Improve matchEasy to detectSamplingDead animal preservationAntiendomysial antibodiesSystemic lupus erythematosus
Owner:BIOMEDICA DIAGNOSTICS INC
Exosome extraction kit and application thereof in liquid biopsy of diseases including tumors
ActiveCN105087546AAccurate extractionReal-time monitoring of gene statusOrganic active ingredientsMicrobiological testing/measurementDiseasePatient compliance
The invention relates to a method and a kit for extracting RNA and application of RNA. The method comprises the following steps: (S1) centrifuging a biological sample to obtain supernate; (S2) adding an exosome precipitation solution into the supernate, and carrying out uniform mixing and centrifugation, so as to obtain exosome precipitates; (S3) adding a total RNA extraction reagent and isometric alcohol into the exosome precipitates, acutely mixing, and adding the mixture into an adsorption column; (S4) centrifuging the adsorption column, adding RNA pre-washing liquid, RNA cleaning buffer liquid and deionized water, and carrying out repeated flushing and centrifugation, so as to obtain total RNA. The invention further relates to application of fused RNA and other tumor-specific RNA extracted from exosome of body fluid in aspects of early diagnosis, screening and diagnosis of tumors. Fused RNA and other tumor-specific RNA are extracted from the exosome and are applied to the early diagnosis and screening of malignant tumors such as esophagus cancer and breast cancer, thereby simply realizing the cancer liquid diagnosis with the characteristics of little wound, good patient compliance and convenience in collection and storage.
Owner:骞和生物科技(广州)有限公司
Method for ultrasensitive detection of miRNA based on dual amplification SERS signal system
ActiveCN108535236ARealize quantitative detectionNot easy to fall offRaman scatteringEnzyme digestionMagnetite Nanoparticles
The present invention discloses a method for ultrasensitive detection of miRNA based on a dual amplification SERS signal system. The surface of 4-MBA-labeled gold nanoparticles is coated with a layerof polydopamine to form a SERS mark with a gold-PDA-silver satellite structure, the raman signal of the SERS mark is amplified greatly by unique localized surface plasmon resonance of gaps between gold and silver nanoparticles; at the same time, an enzymatic digestion circular reaction is combined with a magnetic capture mechanism to further amplify a SERS signal to achieve rapid and highly-sensitive quantitative detection of the miRNA. The method has the advantages of simple operation, good detection stability and high detection sensitivity; an incubation solution after the enzyme digestion circular reaction is sequentially added to functionalized magnetic nanoparticles for reaction, and then reacted with the SERS mark, and magnetic separation is performed just after the reaction is completed to achieve rapid and quantitative detection of the miRNA. The method can be applied to clinical diagnostic screening for early cancer.
Owner:SOUTH CHINA NORMAL UNIVERSITY
Methods, assays and kits for cancer diagnosis and screening utilizing glycan-binding and glycan epitopes
InactiveUS8298773B2Highly reproducible resultImprove signal-to-noise ratioDisease diagnosisBiological testingEpitopeCancer cell
The invention relates to the diagnosis, monitoring, prognosis, and / or prediction of cancer utilizing the detection or measurement of glycan-protein interactions, particularly glycan-antibody interactions. The invention relates to carbohydrate-containing molecules that are utilized in bioanalytical systems, methods and kits for detecting neoplasia and methods related thereto and based thereon. In an exemplary embodiment glycans or glycopolymers are carried in an array, on beads or in a microfluidic system for diagnostic screening for risk of neoplasia, the existence of neoplasia in a patient, or for treatment monitoring. In such an embodiment, the bioanalytic system identifies binding interactions between molecules in a patient test sample (e.g., glycan compositions) and the glycans or glycopolymers. The glycan-binding compositions may be used to generate an immune response against cancer cell epitopes. Alternatively, antibody therapeutics can be developed that are useful for binding to glycan compositions on a cell surface.
Owner:VUSKOVIC MARKO +1
Detecting, assessing, and diagnosing sleep apnea
InactiveUS20050171432A1Lower carbon dioxide levelsBlood flow measurement devicesSurgerySleep studyIntensive care medicine
The present invention comprises methods for detecting, assessing, diagnosing, and pre-diagnosing sleep apnea, and for assessing the efficacy of a treatment for sleep apnea. Methods for the detection, assessment, diagnosis and pre-diagnosis (screening) of sleep apnea and the assessment of a treatment for sleep apnea according to the present invention may be performed in the absence of a sleep study. The patients subject to these methods may remain awake during their performance. The invention may be applied to other vascular conditions besides sleep apnea, wherein the sleep apnea methods described herein are example methods for the application of the present invention to the detection, assessment, diagnosis and pre-diagnosis (screening) of other vascular conditions.
Owner:NEW HEALTH SCI
DNA diagnostic screening for turner syndrome and sex chromosome disorders
The present invention encompasses methods, assays and kits for the diagnosis, screening and identification of Turner syndrome and other disorders of sexual differentiation in a human using single nucleotide polymorphisms present on the X and Y chromosomes.
Owner:YALE UNIV
Oximetry sensor adjunct for routine diagnostic screening and monitoring
InactiveUS20140171766A1Prolongs sensor lifeRestores adhesion integrityDiagnostic recording/measuringSensorsAdhesiveMedicine
Provided herein is an invention of a disposable adjunct developed to address limitations associated with oximetry sensor use: patient skin irritation and breakdown; compromised or interrupted display of data resulting from ambient light interference; costs incurred from replacing sensors with failed adhesion; and use of extra sensors for acute monitoring of multiple patient sites. This adjunct may be manufactured at a fraction of the cost of traditional oximetry sensors and can be retrofit to any existing sensor. Data aberrations caused by ambient light interference are reduced, utilizing a photo-opaque layer to prevent interference from above and restoring adhesion with a hydrocolloid adhesive layer to prevent interference from below. The hydrocolloid adhesive layer provides an alternative to relatively aggressive adhesives found on the majority of oximetry sensors, thereby improving patient tolerance through reduced skin irritation. Additional intermediate layers may also be provided.
Owner:SPOT CHECK MEDICAL LTD CO A NEW MEXICO
Eyewear pupilometer
InactiveUS9720259B2Pupil size accuratelyAccurate and reliable measurementNon-optical adjunctsDiagnostic recording/measuringCamera lensFiber
The embodiments disclose an apparatus including an eyewear pupilometer for detecting, measuring and processing a wearer's pupil movement and size, for detecting and processing retinal images, for detecting and processing a wearer's field of view, for broadcasting alerts, for pre-diagnostic screening, for overriding vehicle operation and for measuring, recording and transmitting circadian responses, at least one eyewear pupilometer module including a lens fiber optic camera module, an image processor module, a retinal image infrared detector module, an outward camera module, at least one alert module, an alert light and message projector, a WI-FI module, an automated pullover module, an automated steering module, fiber optic & data cables, a contact lens pupilometer image, sensor and processor module, and at least one eyewear pupilometer module coupled to and / or embedded into eyewear frames and lenses, contact lenses, a vehicle wind shield and protective covers for hand held devices and laptop computers.
Owner:HART WILLIAM +4
Methods, assays and kits for cancer diagnosis and screening utilizing glycan-binding and glycan epitopes
InactiveUS20140087957A1Highly reproducible resultImprove signal-to-noise ratioSaccharide librariesLibrary screeningCancer cellCancers diagnosis
The invention relates to the diagnosis, monitoring, prognosis, and / or prediction of cancer utilizing the detection or measurement of glycan-protein interactions, particularly glycan-antibody interactions. The invention relates to carbohydrate-containing molecules that are utilized in bioanalytical systems, methods and kits for detecting neoplasia and methods related thereto and based thereon. In an exemplary embodiment glycans or glycopolymers are carried in an array, on beads or in a microfluidic system for diagnostic screening for risk of neoplasia, the existence of neoplasia in a patient, or for treatment monitoring. In such an embodiment, the bioanalytic system identifies binding interactions between molecules in a patient test sample (e.g., glycan compositions) and the glycans or glycopolymers. The glycan-binding compositions may be used to generate an immune response against cancer cell epitopes. Alternatively, antibody therapeutics can be developed that are useful for binding to glycan compositions on a cell surface.
Owner:VUSKOVIC MARKO +1
Application of Notch1, p16<INK4a> and hTERC genes as screening markers for cervical cancer
The invention belongs to the technical field of clinical medicine, provides application of Notch1, p16<INK4a> and hTERC genes as screening markers for cervical cancer, and relates to molecular markersfor detecting double or triple genes of cervical precancerous lesion and early diagnosis of the cervical cancer. Patients with cervical disease have no significant symptoms in the early stages of onset, and are easily overlooked and fail to be treated in time, so that the risk of the disease and the difficulty of treatment are increased. It is controversial to use p16<INK4a> protein as a diagnostic screening index for the cervical cancer, and the credibility is not high. The invention provides a set of markers, namely, the application of the Notch1, p16<INK4a> and hTERC genes as the screeningmarkers for the cervical cancer, positive correlation exists between p16<INK4a>, Notch1 and hTERC genes and carcinogenesis of HPV16, and significant positive correlation exists between p16<INK4a> andhTERC genes and the carcinogenesis of the HPV16, and the markers can be used for application of molecular marker reagents for detecting double or triple genes of cervical precancerous lesion and early diagnosis or screening of the cervical cancer.
Owner:INNER MONGOLIA UNIV FOR THE NATITIES
DNA methylation marker for early colorectal cancer and adenoma, method for detecting DNA methylation marker and application of DNA methylation marker
PendingCN113278693AStrong specificityHigh sensitivityMicrobiological testing/measurementDNA/RNA fragmentationCpG siteA-DNA
The invention provides a DNA methylation marker for diagnosis, screening and risk prediction of early colorectal cancer and adenoma. The marker is characterized in that a CpG site in an NDRG4 gene is simultaneously methylated on at least two sites of the 38th site, the 47th site, the 50th site and the 52nd site in SEQ ID NO: 1. The invention also provides a method, a primer pair, a probe and a kit for detecting the DNA methylation marker. The method provided by the invention has good specificity and high sensitivity on early colorectal cancer and adenoma, is low in detection cost and simple to operate, and is beneficial to wide application of early colorectal cancer screening.
Owner:SHANGHAI GENECHEM CLINICAL LAB INC
Regulators of protein misfolding and neuroprotection and methods of use
InactiveUS20090111768A1Increase in protein misfoldingPromote aggregationOrganic active ingredientsNervous disorderCell AggregationsADAMTS Proteins
Polynucleotide molecules and the proteins encoded by the molecules, diagnostic and treatment methods for neurological disorders characterized by protein aggregation are provided. Genes are described herein that affect the misfolding of, and subsequent aggregation of, aggregation-prone proteins such as alpha-synuclein and have implications for the diagnosis and treatment of neurological diseases related to protein aggregation such as Parkinson's disease. Knockdown of expression of the genes described herein using RNAi results in alpha-synuclein protein aggregation in a C. elegans model of protein aggregation. Dopaminergic neuroprotection after overexpression of alpha-synuclein may also be provided by overexpression of proteins. Knowledge of genes relating to protein misfolding and aggregation provides powerful means to develop diagnostic screening methods, mutation analysis and drug design information for the development of novel therapeutic and neuroprotective compounds to treat neurodegenerative diseases such as Parkinson's disease.
Owner:UNIVERSITY OF ALABAMA
Oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis
The invention discloses an oculocutaneous albinism type 1 related mutated TYR gene and application thereof to gene diagnosis. By collection of a 4-generation oculocutaneous albinism type 1 family, a transmission manner of 4-generation oculocutaneous albinism type 1 in the family is an autosomal recessive inheritance manner according to judgment; by reading of documents and online databases, possible pathogenic candidate genes are selected, then a propositus and other members in the family are subjected to PCR (polymerase chain reaction) amplification and Sanger sequencing to determine mutant gene loci, and consequently a TYR pathogenic gene (mutant c.107G) which is a novel pathogenic mutation is discovered. Discovery of the novel TYR pathogenic gene mutation locus enriches a pathogenic gene mutation spectrum, and the novel TYR pathogenic gene mutation locus can be used as a prenatal diagnosis screening locus for oculocutaneous albinism type 1 which is a serious recessive hereditary disease to guide prenatal and postnatal care. By providing of the oculocutaneous albinism type 1 related mutated TYR gene, data support is provided for design of prenatal diagnosis chips, and especially,important significance to prenatal gene diagnosis screening of seriously-harmful rare genetic diseases is achieved.
Owner:HARBIN MEDICAL UNIVERSITY
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