465 results about "Genes mutation" patented technology

The present invention belongs to the technical field of medicinal chemistry, and particularly relates to a pyrimidine macrocyclic compound. The compound has a good inhibitory effect on KRAS mutations, has a good inhibitory effect on the G12V mutation and other types of mutations of the KRAS gene, can be used as a general KRAS inhibitor, and can be used for the treatment of tumors driven by KRASG12V and other types of gene mutations.

The invention discloses a breast cancer lymph node metastasis prediction system based on a gene spectrum, and relates to the technical field of breast cancer prediction systems. Comprising a data acquisition module which collects gene spectrum data of a breast cancer patient and collects detailed clinical information of the patient; the preprocessing module is used for carrying out data cleaning and data normalization processing on the collected data; and the feature extraction module is used for extracting principal component features by applying principal component analysis on the basis of the gene expression data. According to the method, gene expression data are considered, various gene spectrum data such as gene mutation and copy number variation and detailed clinical information are integrated, the biological characteristics of the breast cancer can be reflected more comprehensively, and the prediction accuracy is improved.

Purinostat mesylate (PM) for preventing and treating diffuse large B-cell lymphoma (DLBCL), an analogue thereof, a drug for combined use, and the use. PM exhibits excellent in-vivo and in-vitro anti-tumor therapeutic effects on DLBCL (DEL and DHL) subtypes with poor prognosis, DLBCL subtypes having TP53 deletion and mutation combined with a plurality of poor prognosis gene mutations, and DLBCL having TP53 mutation with double expressors, which are superior to that of most existing DLBCL clinical therapy plans. A doublet or triplet therapy of PM with rituximab, R-CHOP, venetoclax and R-CHP also exhibits excellent in-vivo therapeutic effects against DLBCL and a plurality of subtypes. Thus, PM and the drug for combined use have an important clinical significance for the DLBCL and a plurality of subtypes.

The invention discloses a primer combination for identifying six genital tract pathogens and detecting drug resistance genes, a kit and application, the primer combination comprises a primer combination for identifying chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, mycoplasma hominis, neisseria gonorrhoeae and trichomonas vaginalis and detecting the drug resistance genes of the six genital tract pathogens, and nucleotide sequences are shown as SEQ ID NO.1-SEQ ID NO.50. Microorganisms and related drug-resistant genes in a detection range are identified by utilizing a multiple PCR targeted three-generation sequencing method, the specificity is good, the sensitivity is high, the detection technology has important clinical significance when being applied to identification of genital tract infection pathogens, and compared with a traditional detection method, the detection flux, the coverage range and the sensitivity are higher, and detection is stable; compared with pathogenic microorganism metagenome (mNGS) detection, the method has the advantages that the detection cost is lower, and the detection sensitivity on drug-resistant genes and drug-resistant gene mutation is higher.

An antigen peptide is provided specifically for treating individuals suffering from ovarian cancer, preferably based on BRCA1 gene c. 5470_5477del8 mutation. It is selected from amino acid sequences of SEQ ID NO. 1 to SEQ ID NO. 6, or derived by substitution, deletion and / or addition of at least one amino acid. The neoantigen polypeptides of the present disclosure can significantly activate T lymphocytes specific to the BRCA1 gene c. 5470_5477del8 mutation in vitro, stimulating the release of the cytokine IFN-y, indicating notable immunogenicity. This enhances T lymphocytes' ability to target and kill cancer cells from ovarian cancer patients carrying the BRCA1 gene c. 5470_5477del8 mutation. Additionally, the antigen peptide can activate and expand human T lymphocytes specific to the BRCA1 gene c. 5470_5477del8 mutation in vitro for adoptive cell therapy. The antigen peptide of the present disclosure addresses the gap in personalized antigen peptide therapies for ovarian cancer patients with BRCAl-c. 5470_5477del8 somatic mutations.

The present invention provides a novel therapeutic drug for treating a Prom1-associated retinal disease. Specifically, the present invention provides an optimized Prom1 gene expression cassette, an rAAV viral vector, and a gene therapy drug. The drug of the present invention can specifically express the PROM1 protein in the retinal photoreceptor layer, and is suitable for the clinical treatment of a retinal disease associated with Prom1 gene mutation.

Disclosed in the present invention is a use of alisol-B23-acetate (AB23a) in the preparation of a drug for preventing or treating hypertrophic cardiomyopathy and diseases caused by the hypertrophic cardiomyopathy. The present invention provides for the first time a use of AB23a in the prevention or treatment of hypertrophic cardiomyopathy. According to the present invention, use of AB23a in direct in vitro treatment of cardiomyocytes derived from directed differentiation of human embryonic stem cells revealed that AB23a-based in-vitro treatment can significantly inhibit hypertrophic phenotypes of the human embryonic stem cells-cardiomyocytes; using an AB23a-containing feed to feed mice with hereditary hypertrophic cardiomyopathy caused by a gene mutation revealed that AB23a prominently relieves pathological myocardial hypertrophy of the mice and improves the cardiac function; AB23a can be used for preparing a drug for resisting hereditary hypertrophic cardiomyopathy, offering a novel way and means for treating hypertrophic cardiomyopathy; and AB23a is the main medicinal ingredient in the traditional Chinese medicinal herb-Rhizoma Alismatis, is safe to organisms, and has good clinical application prospects.

The disclosure features systems and methods for correcting a mutation in the human beta-globin (HBB) gene in a cell or population of cells. The disclosure also features methods of increasing repair of a DNA double stranded break (DSB) in an HBB gene by the homology-directed repair (HDR) pathway. The disclosure also features compositions for use in the methods.

The invention relates to the field of plant genetic engineering. Specifically, the invention relates to a method for creating a novel herbicide-resistant plant through a plant basic group editing technology and screening an endogenous gene mutation site capable of endowing the plant with herbicide resistance. The invention also relates to the use of the identified mutated endogenous resistance gene in crop breeding.

The present invention provides compositions and methods of their use in treating dystroglycanopathy, muscular dystrophy and other disorders. In particular, a method of treating a disorder associated with a mutation or loss of function in a fukutin related protein (FKRP) gene and / or a disorder associated with a defect in glycosylation of α-DG in a subject is provided, comprising administering to the subject an effective amount of a ribitol and a selective estrogen receptor modulator (SERM).

The invention discloses an application of ARN2966 in the treatment of UMOD (Urban Molecular Orthodontic Disease) gene mutant autosomal dominant hereditary renal tubular interstitial nephropathy (ADTKD), and belongs to the field of biomedicine. The ARN2966 has the advantages that the ARN2966 can be used for the treatment of UMOD gene mutant autosomal dominant hereditary ADTKD, and the ARN2966 can be used for the treatment of UMOD gene mutant autosomal dominant hereditary ADTKD; the application comprises the application of the amyloid precursor protein (APP)-CD74 signal axis blocking agent in the preparation of the medicine for treating the hereditary tubulointerstitial nephropathy, and the application comprises the application of the amyloid precursor protein (APP)-CD74 signal axis blocking agent in the preparation of the medicine for treating the hereditary tubulointerstitial nephropathy. Compared with the prior art, the key effect of an APP-CD74 signal axis in ADTKD-Umod pathogenesis is disclosed for the first time, and ARN2966 provides a brand new intervention strategy for treatment of ADTKD-Umod through targeted regulation and control of the pathway. Compared with a broad-spectrum anti-inflammatory drug, the ARN2966 has high targeting specificity, and side effects caused by non-specific immunosuppression can be avoided. Although the ARN2966 does not enter a clinical research stage at present, due to the unique action mechanism and verified safety characteristics of the ARN2966, the ARN2966 has remarkable transformation medical value and clinical application prospect in the aspect of developing ADTKD-Umod targeted therapeutic drugs.

The invention relates to the technical field of biology, in particular to application of a rice biological clock gene OsRVED in regulation and control of rice salt stress resistance, and provides application of a rice OsRVED gene as shown in SEQ ID NO.1, a rice OsRVED gene CDS sequence as shown in SEQ ID NO.2 and protein as shown in SEQ ID NO.3 in regulation and control of plant salt stress response. According to the invention, transgenic rice with OsRVED gene mutation is obtained through a CRISPR (clustered regularly interspaced short palindromic repeats) editing technology. After the transgenic rice OsRVED gene knockout mutant is subjected to 180mM NaCl salt stress simulation treatment, the phenotype is observed, the survival rate is counted, it is confirmed that the osrved mutant shows the salt tolerance phenotype compared with receptor rice Zhonghua No.11, and it is indicated that the OsRVED plays an important role in the process of responding to rice salt stress.

The invention relates to the technical field of biological gene mutation prediction, in particular to a multi-omics feature-based missense mutation function classification method and system. The classification method comprises the following steps: S1, collecting a multi-omics comprehensive feature set related to missense mutation; s2, constructing a heterogeneous graph; s3, learning a meta-path-based weight of each node in the heterogeneous graph; s4, calculating weights of different meta-paths by using attention of a semantic level; s5, performing weighted summation on the node weight and the meta-path weight to obtain final embedding representation of each node; s6, training to obtain a multi-omics feature-based missense mutation function classification model; and S7, outputting a prediction score based on the multi-omics feature missense mutation function classification model, and dividing missense mutation according to the prediction score. According to the method, the heterogeneous graph is constructed by utilizing multiple omics characteristics, and the relationship between biological entities is explicitly modeled, so that GOF and LOF mutations are distinguished more accurately.

The disclosure relates to novel plants, plant parts, and nucleotide sequences in soybean plants comprising a mutated JAG1 gene, along with methods of using and making the same. Wherein the mutated JAG1 gene comprises a null mutation in the JAG1 gene encoding the polypeptide of SEQ ID NO: 10 or an allelic variant thereof and wherein the soybean plant cell lacks a loss-of-function mutation in the soybean JAG2 gene.

The invention provides a kit for detecting TP53 gene mutation. The kit for detecting TP53 gene mutation provided by the invention can accurately detect six TP53 gene mutation sites, namely R175H, R249S, R282W, R248Q, R273H and G245S, in genome DNA to be detected at the same time through a multiple fluorescent PCR reaction system and a multi-channel fluorescent signal, can accurately detect the six mutation sites, has ultrahigh amplification efficiency, detection efficiency, sensitivity and specificity, and can be widely applied to detection of TP53 gene mutation. The genotype of a sample with the genome DNA content of 1 ng can be accurately detected, the operation is simple and convenient, and the cost is low.

The invention relates to a haploid induction method based on a brassica napus phospholipase gene BnaPLA2-a and application of the haploid induction method, the BnaPLA2-a gene in brassica napus is knocked out through a gene editing technology, a mutant material capable of inducing haploid generation is obtained, and the application blank of a phospholipase pathway in dicotyledon haploid induction is filled. Compared with a traditional microspore culture technology, the invention provides a brand-new haploid induction path which is derived from the rape and is used for the rape. The invention provides a brand new technical tool and germplasm resources for genetic breeding of brassica napus. Meanwhile, the invention discloses a gene, a mutant, a creation method and application in breeding.

The invention provides a recombinant oncolytic virus for treating solid tumors with rare and rare gene mutations, which is an OAV treatment platform subjected to triple virus structural protein gene modification and triple adenovirus serotype chimerism, and is named as NeoViron. NeoViron can directly deliver tumor neoantigens to a plurality of solid tumors, especially tumors with rare mutations, and a new general strategy is provided for treating a plurality of intractable tumors.

The invention provides a kit for detecting Leber hereditary optic neuropathy and application, and relates to the technical field of biology. The kit comprises: (1) an alkaline lysis solution for releasing mitochondrial DNA in a blood sample; (2) an RPA isothermal amplification reaction system for amplifying the target sequence, wherein the RPA isothermal amplification reaction system comprises an RPA amplification primer; (3) a CRISPR-Cas12a (Clustered Regularly Interspaced Short Palindromic Repeats / Cas12a) system for carrying out high-specificity cutting on a mutation site, wherein the CRISPR-Cas12a system comprises crRNA (Complementary Ribonucleic Acid); and (4) lateral flow chromatography test paper for realizing visual detection. By simplifying the detection process, the kit greatly improves the accessibility of gene diagnosis, so that the gene screening technology can break through the limitation of traditional equipment and is popularized to a wider application scene, and the development of the gene diagnosis technology in the direction of portability, low cost and high precision is promoted. The innovation not only brings a convenient detection tool for gene mutation screening, but also lays a foundation for future gene therapy and personalized medical treatment.

The invention discloses a method and a system for assisting in inputting clinical information of rare diseases and analyzing gene mutation based on phenotypes. The method comprises the following steps: firstly, acquiring clinical information in voice, text and image forms of a patient through a multi-source data acquisition module, converting the clinical information into characters, and performing entity recognition and standardization processing to generate structured medical record data; secondly, extracting clinical phenotypes from the structured data; furthermore, a candidate gene list is obtained according to the gene-disease relationship, comprehensive scoring and sorting are carried out, and a concerned gene list is output. According to the method, efficient structured input and standardization of clinical information are realized, the accuracy and automation level of phenotype-gene matching are remarkably improved, the gene variation interpretation period is effectively shortened, and intelligent support is provided for precise diagnosis of genetic diseases.

The present disclosure relates to methods and compositions that involve isolated peptides derived from SF3B1 mutation-associated tumors, and the use of such methods and compositions for treatment or prevention of cancer.

The invention discloses an oncolytic virus and application of the oncolytic virus in preparation of tumor inhibition drugs. The oncolytic virus is a lentiviral vector, and the lentiviral vector comprises polynucleotide encoding p16 protein or a bioactive part of the p16 protein containing CDKN2A gene, and can effectively inhibit growth of cancer related to CDKN2A gene mutation, so that the problem that the existing oncolytic virus has biological safety risk in delivery of cancer suppressor genes is effectively solved.

The invention discloses a streptomyces Targetron gene targeting vector as well as a construction method and application of the streptomyces Targetron gene targeting vector. According to the invention, an II-type intron Ll.LtrB from lactococcus lactis is cloned to an escherichia coli-streptomyces shuttle plasmid to construct a streptomyces genetic manipulation tool-vector pSC30 based on targeting of the II-type intron, and gene targeting in streptomyces coelicolor is successfully realized by using the tool. Screening a biosynthetic gene cluster of red pigment in streptomyces roseosporus; and activating a biosynthetic gene cluster of janus doxorubicin in streptomyces spinosus. According to the invention, the conversion rate and the gene targeting efficiency of the Ll.LtrB intron in streptomyces with high GC content are effectively improved, and a new tool is provided for construction of a gene mutation library.

The invention provides a pharmaceutical composition. The pharmaceutical composition is prepared from an angiotensin II receptor blocker, folic acid, 5-methyltetrahydrofolic acid and acceptable auxiliary materials. The composition has the advantages that the composition has the functions of reducing blood pressure and preventing and treating osteoporosis, and is particularly suitable for hypertension and osteoporosis susceptible people with MTHFR C677T gene mutation. Through the implementation of the invention, the pharmaceutical composition is provided for people with a specific genetic background, so that precise medical treatment is realized, the curative effect is improved, the side effect is reduced, and the medication compliance is improved.

The invention discloses an organ-like drug resistance prediction method and device and a storage medium, and relates to the technical field of bioinformatics, and the method comprises the steps: S1, constructing an initial prediction model; s2, acquiring a training data set; s3, training an optimization prediction model; s4, acquiring related data of a to-be-predicted drug; s5, obtaining a prediction result of the drug resistance of the to-be-predicted drug; according to the method, the drug resistance of the organoid to the drug can be predicted more accurately. By fusing multi-dimensional features of gene mutation, target mutation and drug functional groups, the understanding and learning ability of the model to the drug resistance mechanism is enhanced, and the reliability of drug resistance prediction is improved. The method not only can accurately capture key information of influence of gene and target mutation on drug resistance, but also can highlight unique mutant genes of the organoid on drug resistance by comparing feature differences of the organoid and a common cell line, so that an efficient and accurate calculation framework is provided for drug resistance detection.

The invention relates to the technical field of molecular detection, in particular to a method, a system, a kit and a probe for detecting BRCA2 gene mutation. The detection method comprises the following steps: carrying out pretreatment and PCR amplification on a blood sample, carrying out a hybridization reaction with a probe to obtain a sample, detecting the sample based on an SERS technology, and collecting an SERS spectrum. Whether BRCA2 gene mutation exists or not is judged by identifying characteristic double peaks of a cy3 fluorophore at 1188 cm <-1 > and 1393 cm <-1 >, and the whole detection process can be completed within 2 hours. According to the scheme, the region, carrying the BRCA2 gene, on the DNA can be amplified through the specific primer pair, then the DNA is specifically combined through the improved oligonucleotide probe, and detection is achieved through the reporter molecule on the oligonucleotide probe; therefore, the detection method provided by the scheme has the advantages of high detection speed, high sensitivity and high detection result accuracy, and the problems of long time consumption and high cost of the traditional PCR or NGS technology are effectively solved.

Compounds, compositions and their use in the treatment of a proliferative disease or condition such as a said proliferative disease or disorder is associated with a RAF gene mutation and / or a RAS gene mutation. The compounds disclosed are of Formula I or a pharmaceutically acceptable salt or solvate thereof, wherein R1, R2, R3, X1, X2, X3 and X4 are as defined herein:

This invention discloses a method for inhibiting Tamdy virus infection and the use of TCP1 inhibitors. Specifically, this invention discloses a method for inhibiting Tamdy virus (TAMV) infection of host cells, the method comprising the step of reducing or inhibiting the expression level and / or activity of the TCP1 gene or its encoded protein in host cells, wherein the reduction or inhibition of the expression level and / or activity of the TCP1 gene or its encoded protein is achieved by methods selected from the group consisting of: gene mutation, gene knockout, gene interruption, RNA interference technology, gene editing technology, introduction of inhibitors of genes or proteins, or combinations thereof.

The invention provides a spot universal CFR64-T cell prepared on the basis of CRISPR / Cas9 as well as a preparation method and application thereof. The CFR64-T cell is obtained by induced differentiation of recombinant human embryonic stem cells; in the recombinant human embryonic stem cell, a coding sequence of a CFR64 molecule is knocked into a TRAC site of the human embryonic stem cell at a fixed point through a CRISPR / Cas9 editing system; the CFR64 molecule comprises an antigen binding structural domain, a transmembrane structural domain and an intracellular costimulatory signal structural domain, the antigen binding domain is a human Fc gamma receptor extracellular domain, and the amino acid sequence of the antigen binding domain is shown in SEQ ID NO: 1. The CRISPR / Cas9 technology is adopted, gene integration sites are controllable and free of oncogene mutation risks, TCR genes are knocked out, the immunological rejection risk of universal CFR64-T cells to hosts is reduced, and meanwhile gene expression is more stable.

The present invention relates to the field of gene therapy in the medical field, and in particular to the use of overexpressing normal genes to restore hearing in patients with hereditary hearing loss caused by gene mutations or deletions. The present invention relates to a dual vector system expressing an OTOF protein. The dual vector system comprises two segments of nucleotide sequence, the first segment comprising two ITR sequences and a gene expression cassette inserted between the ITR sequences, and the second segment comprising two ITR sequences and a gene expression cassette inserted between the ITR sequences. An adeno-associated virus packaged with the vector is also provided. The vector and virus can restore hearing in both ears by administering them to one ear, in the field of large-scale dual vector gene delivery for hearing loss gene therapy.

The present application belongs to the field of plant genetic engineering and biotechnology, and particularly relates to a method for creating a dwarf material of Brassica napus by using CRISPR / Cas9 gene editing technology and application. The method edits the Brassica napus BnaA06G0083400WE gene by using CRISPR / Cas9 gene editing technology to obtain a dwarf material of Brassica napus; the nucleotide sequence of the coding gene mutant of the Brassica napus dwarf material is SEQ ID NO. 1. The present application edits the Brassica napus BnaA06G0083400WE gene by using CRISPR / Cas9 gene editing technology to obtain a dwarf Brassica napus, which provides valuable genetic resources and germplasm resources for Brassica napus breeding; the method has strong characteristics and is easy to obtain, is an effective way to realize the improvement of target traits and cultivate new materials, and can be applied to Camellia sinensis breeding.