384 results about "Gene mutation" patented technology

The invention discloses a multi-omics causal structure relation learning method based on comparative learning, which comprises the following steps: firstly, respectively constructing corresponding encoders for preprocessed gene mutation and gene expression data, and respectively carrying out feature extraction on two kinds of omics data; then, constructing a projection head with shared parameters to realize cross-modal feature alignment; then, using the aligned features as nodes, and constructing causal graph data through a learnable causal graph structure; constructing a graph neural network to learn causal graph representation, and constructing a contrast loss function; and finally, a model prediction result is obtained through a multi-layer perceptron, a survival prediction loss function is constructed, and a total loss function is obtained for multi-omics causal structure model training. Based on gene mutation and gene expression data, a cross-omics causal structure relationship is constructed and learned through comparative learning, more accurate prognosis prediction is provided for diseases such as acute myelogenous leukemia and the like, and potential biomarkers and key regulatory factors are helped to be found.

The invention discloses a lung cancer gene mutation classification method based on frequency domain multi-scale fusion guidance, and relates to the technical field of medical image processing and gene detection. According to the MFHA mechanism provided by the invention, the pathological image is decoupled into low-frequency global and high-frequency detail sub-bands through wavelet transform, and extraction of key high-frequency features such as cell nucleus morphology and local texture is enhanced by combining multi-scale convolution and up-sampling guided by high-frequency information; the problems of insufficient feature detail mining and low feature fusion efficiency in a traditional pathological image analysis method are solved; key features are screened and focused through a channel, frequency domain-space feature deep fusion is realized through up-sampling, robust representation is constructed by combining space attention with cosine similarity and multi-dimensional statistical features, a frequency domain analysis-space focusing collaborative optimization mechanism is formed, information redundancy caused by simple feature splicing is avoided, and the robustness of the system is improved. And the classification stability of the model in a complex pathological scene is improved.

The invention relates to the field of medical image analysis, in particular to a lung adenocarcinoma EGFR gene mutation detection system and method based on PET / CT deep learning, and the system comprises a data collection module which is used for obtaining PET / CT image data and clinical information of a lung adenocarcinoma patient; the image preprocessing module is connected with the data acquisition module and is used for carrying out standardization processing and ROI extraction on the PET / CT image data; the feature extraction module is connected with the image preprocessing module and used for extracting depth features, metabolic parameter features and CT sign features from the PET / CT image data; the multi-modal data fusion module is connected with the feature extraction module and used for fusing the extracted multi-modal features; and the prediction model module is connected with the multi-modal data fusion module and is used for predicting the lung adenocarcinoma EGFR gene mutation state and prognosis based on the fusion features, and the prediction accuracy is improved through multi-modal data fusion and deep learning technologies.

The present invention relates to a method of treating a glucose-6-phosphate dehydrogenase dysregulated disorder in a subject in need thereof, the method comprising administering to the subject an effective amount of oleanolic acid, a conjugated salt thereof, or a prodrug thereof. The glucose 6-phosphate dehydrogenase dysregulated disorder can be myofibrillar myopathy, amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease and Alzheimer's disease caused by BCL2 associated immortal gene mutation.

The invention belongs to the technical field of biotechnology and agricultural biological breeding, and relates to a sorghum double haploid breeding method which comprises the following steps: (1) performing gene mutation on SbMTL and SbDMP to obtain a sorghum double-gene mutant strain according to any one of claims 1 to 3; (2) screening and identifying sorghum haploids by using GFP (Green Fluorescent Protein) marker and Ruby marker genes; and (3) naturally doubling the obtained haploid plant to obtain the double haploid of sorghum. SbMTL and SbDMP genes of sorghum are knocked out by utilizing a CRISPR / Cas9 technology so as to realize high-frequency haploid induction, meanwhile, an effective haploid selection marker is introduced, the induction frequency of a haploid induction system is evaluated, and after the obtained haploid plant is naturally doubled, a double-haploid system of sorghum is successfully obtained. The induction efficiency of the sorghum haploid induction line reaches up to 18% or above, the economic value is high, and the process of sorghum breeding is remarkably promoted.

The invention discloses application of a rice OsbHLH083 gene in regulation and control of seed germination capability, and relates to the technical field of plant genetic engineering. The CDS sequence of the rice OsbHLH083 gene is as shown in SEQ ID NO. 2, and the amino acid sequence of the coded protein is as shown in SEQ ID NO. 3. The molecular biology function of the rice OsbHLH083 gene for regulating rice germination is studied, after the rice OsbHLH083 gene is edited through CRISPR / Cas9, compared with a wild type, the rice OsbHLH083 gene mutant rice seeds germinate slower, the rice OsbHLH083 gene and a protein coded by the rice OsbHLH083 gene can be used for regulating the phenotype of seed germination, and the rice OsbHLH083 gene mutant rice seeds germinate more slowly. And a gene resource is provided for the genetic improvement of rapid germination and seedling formation characters of the direct seeding rice seeds in the field.

The invention discloses a method for regulating and controlling the flowering phase of corn and application of the method, and belongs to the field of plant biotechnology breeding. According to the novel flowering phase regulation gene ZmDB6 provided by the invention, after mutation, the ZmDB6 has a phenotype with early flowering phase and reduced leaf number, the flowering phase is properly advanced, the other agronomic traits are not greatly changed, the planting range can be expanded, the multiple cropping index can be improved, the high-temperature harm in the tasseling and flowering phase can be effectively reduced, and the yield of the tasseling and flowering phase can be improved. Probabilities of early frost damage in a pustulation period, preharvest sprouting in a rainy season in a mature period, late-period pest and disease damage and the like are greatly improved, and the ZmDB6 gene and the mutant thereof provided by the invention have huge application potential in the aspect of regulating and controlling breeding in a proper flowering period of the corn.

The present invention belongs to the field of aquatic biological breeding, and specifically relates to a method and application of creating germplasm without intermuscular spines of economic fish for breeding. runx2b The economic fish, Megalobrama amblycephala, is gene-edited using a gene as the target gene. F0 generation fish with mutations are selected and cultured as parent fish. The F1 generation is produced by mating and breeding the F0 generation mutant male and female parents. F1 fish without intermuscular spines are screened and cultured to adult fish for use in cultivating a new germplasm of Megalobrama amblycephala without intermuscular spines. The present invention utilizes a gene mutation method to obtain a new germplasm of the economically cultivated fish, Megalobrama amblycephala, without intermuscular spines. This provides an improved method for solving the problem of the significant impact of intermuscular spines in the muscles of important aquacultured economic fish such as silver carp, bighead carp, carp, crucian carp, and bream in my country on their consumption and processing. It also provides a basis for subsequent research on the molecular formation mechanism of intermuscular spines, and has important scientific research value and industrial application value.

Methods for selecting a cancer patient for immunotherapy comprise establishing a total passenger gene mutation burden from a tumor of a cancer patient, generating a background distribution for the mutational burden of the tumor, normalizing the total passenger gene mutation burden against the background distribution, and categorizing the cancer patient as an immunotherapy responder when the total passenger gene mutation burden is greater than the mean of the background distribution. When the cancer patient is an immunotherapy responder, the patient may be administered an immunotherapy regimen that comprises activation / inhibition of T cell receptors that promote T cell activation and / or prolong immune cytolytic activities.

The invention discloses a multi-dimensional efficacy evaluation system for colon cancer targeted drug screening, and relates to the technical field of medical assistance. Comprising a data acquisition module, an inference engine module and an output module. The data acquisition module acquires an organ sample response data set (including apoptosis rate A1, activity decline degree A2 and image structure change score B1) and a patient background data set (including gene mutation discrete variable set G and metabolic pathway continuous variable set M). The inference engine module executes dominant condition rules: generating a negative weight factor alpha according to a gene mutation state and a metabolic activation threshold value; generating a deduction item gamma based on a preset drug-resistant mutation subset; performing weighted calculation on the apoptosis rate and the activity decline degree to generate a basic drug effect score beta, and increasing beta through a critical value; and finally generating a comprehensive response score S. And the output module outputs a drug effect judgment result according to the S, and multi-dimensional accurate evaluation is realized.

The invention discloses application of an OsMYB23 gene in improving resistance of rice to ustilaginoidea virens, and belongs to the technical field of gene engineering. The nucleotide sequence of the CDS region of the OsMYB23 gene is as shown in SEQ ID NO. 2. Researches find that the OsMYB23 gene is related to the resistance of rice to the false smut, the over-expression of the OsMYB23 gene significantly reduces the disease resistance of the rice to the false smut, the mutation of the OsMYB23 gene improves the defense capability of the rice to the false smut, and the mutation of the OsMYB23 gene does not influence the normal growth of the rice, so that the OsMYB23 gene of the rice can be used for improving the resistance of the rice to the false smut, and the rice can be used for preparing the rice for preventing and treating the false smut. And a theoretical basis is provided for prevention and control of rice ustilaginoidea virens and diseases caused by the rice

The invention provides an instruction data matching experiment method, system and device and a storage medium, and belongs to the technical field of artificial intelligence, and the method comprises the steps: determining each data set participating in the fine tuning of a large model, setting the parameters of a genetic algorithm, and randomly generating an initial population; each individual in the initial population is used for fine tuning training of a large model; evaluating the large model after fine tuning training to obtain a fitness value corresponding to each individual; selecting an individual with the highest fitness value for generating a next-generation population; pairing the selected individuals, and performing crossover operation according to a set crossover probability; performing gene variation on newly generated individuals according to a set variation probability to generate a new generation of population; and replacing the current population with a new generation of population generated through genetic manipulation, repeatedly executing the steps until a set termination condition is reached, and outputting an individual with the highest fitness value in the new generation of population to obtain an optimal matching scheme. The data matching efficiency is improved, and the labor cost is reduced.

The invention discloses a preparation method of CsPHT1; the invention discloses modification of selenium element absorbed by tea and application of the gene 3 to feed, and relates to the field of agricultural gene engineering. CsPHT1 (CsPHT1); the gene 3 is GenBank: OP219455.1, gene mutation of D144K and T150V is carried out on the gene 3, and the amino acid sequence after mutation is shown as SEQ ID No: 01; tea tree CsPHT1; 3, the cultivation of D144K and T150V gene mutation seedlings is improved by the gene. The new variety cultivated by the invention can improve the selenium content and the oxidation resistance of the selenized tea polysaccharide without being influenced by the change of pH 5-7; the selenium-supplementing feed is obtained by mixing the high-selenium tea leaves with the feed, and the requirements of the current high-end feed market are met.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an oocyte occurrence and maturation disorder detection panel, a detection kit and application thereof, and the detection panel comprises mutation genes related to the oocyte occurrence and maturation disorder for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, by detecting high-risk genes and mutation sites, the risk of occurrence and maturation disorder of the oocytes is predicted in combination with clinic, the development potential of the oocytes is evaluated, the in-vitro maturation strategy is optimized, and the clinical outcome of assisted reproduction is improved. The detection panel can be used for efficiently detecting gene mutation which has clinical diagnosis and treatment significance on oocyte occurrence and maturation disorders; the method has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention measures of patients suffering from recurrent oocyte occurrence disorder, oocyte maturation disorder and low oocyte maturation rate and patients to be subjected to assisted reproduction technology treatment.

The invention discloses a composition for detecting benign and malignant thyroid nodules and a detection method thereof, and relates to the technical field of medical detection, the composition comprises the following components: a DNA / RNA extraction reagent and a fluorescent quantitative PCR reagent; by combining the DNA / RNA extraction reagent and the fluorescent quantitative PCR reagent, nucleic acid can be efficiently and accurately extracted from the thyroid nodule fine needle puncture sample, specific gene mutation and gene fusion are detected through the fluorescent quantitative PCR technology, the accuracy and sensitivity of benign and malignant judgment of the thyroid nodule are remarkably improved, and the method is suitable for clinical application. And a doctor can formulate a treatment scheme earlier and more accurately, and the prognosis of a patient is improved.

The invention relates to the technical field of medical artificial intelligence, and provides a radiotherapy decision support system based on genetic characteristics of tumors, and the system comprises a data collection module which collects clinical data and tumor tissue samples of patients, and obtains gene mutation data and gene expression data; the data preprocessing module performs quality evaluation, duplicate removal and cleaning on the data and integrates the data into a data set; an XGBoost algorithm is adopted to screen out key features related to radiotherapy sensitivity from the cleaned data set; inputting the training set into an LSTM model combined with an attention mechanism for model training to obtain the prediction model, and performing training and parameter adjustment on the model; and the input and output module takes the collected data as input and outputs recommended radiotherapy dose. The system integrates genetic features and clinical features of patients, predicts the radiotherapy dose through a machine learning model, provides a personalized radiotherapy scheme for each patient, and improves the treatment effect.

Techniques for classifying, using a deep learning model, histopathological whole slide images (WSIs) as comprising images of cancerous or non-cancerous tissue and / or as comprising images of cancerous tissue having a genetic mutation or not having a genetic mutation are described herein. The techniques include at least one processor configured to instantiate a container-based processing architecture to train and / or use the deep learning model to process and classify at least one WSI. In some embodiments, a treatment may be selected and administered based on a classification result obtained from the deep learning model.

According to the wireless network intelligent optimization deployment method and system disclosed by the invention, the network deployment strategy is issued to the edge node, so that the calculation amount of the integrated controller is reduced, and the optimization efficiency of the network deployment strategy is improved; besides, strategy chromosomes are evolved through a double-variation mechanism, and a dynamically changing gene mutation probability and an environment evolution range are introduced, so that the algorithm can quickly jump out of a local optimal solution, dynamically track and adapt to the change of a network environment, and the convergence speed of the evolutionary algorithm is remarkably improved; and finally, analyzing the strategy chromosome according to the network state data, and determining an optimized deployment strategy. According to the method, the overall overhead and delay of a network deployment strategy are remarkably reduced, and the efficiency is improved.

The invention discloses a joint detection kit for genetic risk genes and medication genes of Alzheimer's disease and a multivariable risk assessment model. The kit comprises a detection reagent for detecting 25 mutation sites of 15 genes, wherein the 25 mutation sites of the 15 genes comprise 17 mutation sites of 10 risk genes and 10 mutation sites of 6 medication genes. Amplification primer pairs and single-base extension primers of each site are designed for 25 mutation sites of 15 genes, multiple PCR amplification and single-base extension reactions are carried out, and the genotype of each site of a product is analyzed by using matrix-assisted laser desorption ionization time-of-flight mass spectrometry. A multivariable risk assessment model for the Alzheimer's disease is constructed by taking a genetic risk score GRS, age, gender and plasma p-tau217 concentration of a risk gene mutation site as markers, one-stop detection of'early screening and medication guidance 'can be realized in combination with a medication gene detection result, and the application prospect and demand are broad.

The invention provides a novel therapeutic drug for treating Prom1 related retinal diseases. Specifically, the invention provides an optimized Prom1 gene expression cassette, an rAAV virus vector and a gene therapy drug. The medicine provided by the invention can specifically express the PROM1 protein in a retina photoreceptor layer, and is suitable for clinical application to treatment of Prom1 gene mutation related retinal diseases.

The invention discloses an acute myelogenous leukemia prognosis prediction method and device based on multi-omics fusion, and the method comprises the steps: collecting and preprocessing gene mutation data and gene expression data to construct a data set; constructing an acute myelogenous leukemia prognosis prediction model, and training by using the data set; inputting the preprocessed gene mutation data and gene expression data as genomics data and transcriptomics data into the trained prediction model to obtain a risk score of prognosis prediction; wherein the two shared encoders in the model share part of parameters, two modal features extracted by the two shared encoders are subjected to CLIP-based feature alignment, and features extracted by the private encoder and the shared encoder of each modal are subjected to feature decoupling. According to the method, complementarity and synergy of genomics and transcriptomics data are fully mined through a layered feature decoupling and dynamic fusion mechanism, and the prognosis prediction accuracy of the acute myelogenous leukemia patient is improved.

This invention relates to talazoparib, or a pharmaceutically acceptable salt thereof, in combination with enzalutamide, or a pharmaceutically acceptable salt thereof, for the treatment of homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer and methods of increasing overall survival thereof.

This invention relates to the field of organoid disease models, and discloses a method for constructing a human brain organoid model of early-onset Alzheimer's disease (AD) and its applications. This invention introduces [a specific technology] into human embryonic stem cell lines through single-base editing and lead editing techniques. PSEN1 ΔE9、 PSEN1 M146V and APP Human embryonic stem cell lines carrying four familial pathogenic gene mutations (K670N and M671L) were constructed and induced to differentiate into Alzheimer's disease (AD) brain organoids. The AD brain organoid model established by this invention exhibited tau phosphorylation pathological phenotypes as early as 20 days and Aβ-related phenotypes as early as 40 days, with increased total Aβ, decreased Aβ42 / Aβ40 ratio, and simultaneous aggravation of Aβ-Tau pathology. This represents a complex neurodegenerative pathological model where multiple mutations synergistically regulate Aβ production and tau phosphorylation, which is highly valuable for understanding and studying early-onset familial AD. This invention provides a human brain organoid model for in vitro AD studies and offers a tool for studying the pathological mechanisms of AD and screening drugs.

The invention belongs to the technical field of molecular markers, and particularly relates to an SNP molecular marker for high-quality protein waxy corn and application of the SNP molecular marker. The SNP molecular marker is closely linked with functional mutation of a high-quality protein corn o2 gene, and a non-synonymous mutation site base of the SNP molecular marker site is T / C and is located on a corn gene Zm00001d018971. According to the SNP molecular marker developed on the basis of o2 gene mutation sites, Zm00001d018971 variant and wild type alleles can be distinguished specifically and highly sensitively, and a pair of specific primer groups capable of amplifying the SNP molecular marker is provided. The o2 mutant corn sample can be quickly, efficiently and accurately identified only by performing PCR amplification on the corn plant by using the specific primer group disclosed by the invention, lossless and accurate genotype identification in the seedling stage is realized, and reliable and low-cost technical support can be provided for efficient and large-scale breeding of high-quality protein corn.

This invention discloses the application of alismazone B acetate in the preparation of drugs for the prevention or treatment of hypertrophic cardiomyopathy and its related symptoms. This invention is the first to propose the use of alismazone B acetate (AB23a) for the prevention or treatment of hypertrophic cardiomyopathy. The invention utilizes AB23a to directly treat cardiomyocytes obtained from directed differentiation of human embryonic stem cells in vitro, finding that AB23a treatment significantly inhibits the hypertrophic phenotype of human embryonic stem cell-cardiomyocytes. Feeding mice with hereditary hypertrophic cardiomyopathy caused by gene mutations to a diet containing AB23a showed that AB23a significantly alleviated pathological myocardial hypertrophy and improved cardiac function in mice. AB23a can be used to prepare drugs against hereditary hypertrophic cardiomyopathy, providing a new approach and method for treating hypertrophic cardiomyopathy. AB23a is the most important medicinal component of the traditional Chinese medicine Alisma plantago-aquatica, is safe for organisms, and has good clinical application prospects.

The present invention relates to the use of compounds of formula (I) as RAS inhibitors and as a medicament, in particular for use in treating proliferative disorders, inflammatory diseases and / or genetic disorders. The present invention relates further to a pharmaceutical composition comprising the compounds of formula (I). Moreover, the present invention relates to a method of inhibiting growth, proliferation or metastasis of cancer cells in a subject in need thereof, in particular which may encompass subsets of patients defined by their mutational status of the RAS oncogene or patients who might have developed resistance to the standard of care or treatment with RAS mutation specific inhibitors. The present invention also relates to a method of inhibiting RAS molecules in treating genetic disorders like RASopathies or inflammatory disorders like Adenomyosis where KRAS gene is mutationally activated. In addition, the present invention relates to a method of inhibiting proliferation and or secretion of factors from a cell population sensitive towards inhibiting RAS activation in vitro, in particular sensitive towards inhibiting KRAS. HRAS and NRAS activation in vitro. Furthermore, the present invention relates to a kit containing a formulation comprising a pharmaceutical composition comprising a compound of formula (I).

The invention is applicable to the technical field of molecular biology, and provides a mutant gene, a mutant, a transformant and a genetic transformation plant of tobacco deoxycarboxy-putrescine lysine synthase and application of the mutant gene, the mutant, the transformant and the genetic transformation plant of the tobacco deoxycarboxy-putrescine lysine synthase of the tobacco deoxycarboxy-putrescine lysine synthase of the tobacco deoxycarboxy-putrescine lysine synthase. The nucleotide sequence of the mutant gene is shown as SEQ ID NO.2 in a sequence table. After the gene is mutated, a mutant strain shows the phenotype of white veins, and various nutrients are greatly changed. According to the mutant gene of the tobacco deoxycarboxamide lysine synthase provided by the invention, by detecting the mutant and comparing the potassium content in tobacco leaves, the result shows that the mutant gene of the tobacco deoxycarboxamide lysine synthase can improve the potassium content in the tobacco leaves. Therefore, a better choice is provided for genetic improvement of new plant varieties, and the gene has important application value.

The application discloses application of BoDMR1 and BoDMR6 genes in cultivating disease-resistant broccoli varieties, an expression vector and a cultivating method, and relates to the technical field of plant molecular biology. A nucleotide sequence of a broccoli BoDMR1 gene is shown in SEQ ID No: 7, or a nucleotide after gene mutation of the nucleotide sequence shown in SEQ ID No: 7; and a nucleotide sequence of a broccoli BoDMR6 gene is shown in SEQ ID No: 8, or a nucleotide after gene mutation of the nucleotide sequence shown in SEQ ID No: 8. Through gene editing on endogenous BoDMR1 and / or BoDMR6 genes of plants, mutant plants showing resistance to diseases such as sclerotinia, black rot and alternaria blight can be obtained. Therefore, the application is beneficial to providing good resources for cultivating disease-resistant broccoli varieties.

The invention belongs to the field of plant engineering technology and crop germplasm resource innovation, and particularly relates to a rice BEIIb gene mutant, application of the rice BEIIb gene mutant in improving rice resistant starch and an improving method. A mutant material with high resistant starch content is created by knocking out the rice BEIIb gene, and compared with a wild type, mutant seeds show an obvious chalky phenotype, composite starch particles are abnormal in a spherical or ellipsoidal shape, the amylose content is remarkably increased, the protein content is remarkably reduced, the resistant starch content is remarkably increased, and the resistant starch content is remarkably reduced. The hardness of cooked rice is remarkably increased, and the elasticity is remarkably reduced. Through transcriptomics analysis, the protein mainly participates in biological pathways such as carbohydrate metabolism, chloroplast photosynthesis, calmodulin combination and secondary metabolite synthesis, and the expression level of endosperm starch synthesis related genes is obviously changed. The method can provide theoretical basis and method reference for breeding of high-quality rice varieties with high resistant starch.

The invention relates to the technical field of medical treatment, and discloses a lung cancer personalized treatment scheme recommendation method and system and a storage medium. The method comprises the following steps: acquiring clinical and molecular indexes of a patient, and constructing a simplified feature set; distributing weights for treatment targets according to the simplified feature set, constructing and optimizing a scheme evaluation matrix, and generating a preliminary scheme sorting list; through threshold screening and patient feature matching degree verification, a verified scheme set is obtained; the schemes are classified based on gene mutation and driver gene features, and classified optimization scheme subsets are obtained; constructing an interaction model to analyze interaction influence of toxic and side effects and life quality on curative effects, and dynamically adjusting scheme scores; and if the score is lower than a threshold value, triggering iterative optimization, obtaining a scheme list after iteration, and further determining an optimal treatment scheme according to treatment collaboration and target balance. According to the method, intelligent and closed-loop optimization from multi-source data to personalized treatment decision is realized, and the personalization and accuracy of a treatment scheme are improved.