67 results about "Gene mutation" patented technology

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.

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 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.

This invention provides a gene related to the glossy leaf trait in Rugao black cabbage and its application, belonging to the field of molecular genetics and breeding technology. Specifically, this invention identifies the gene controlling the glossy leaf trait in 'Rugao black cabbage', confirms that this trait is controlled by a single dominant gene, and successfully locates the candidate gene. BraA02g02617P This study confirmed the association between the gene mutation and the glossy leaf trait. The discovery of the new dominant gene controlling glossy leaves greatly improves the convenience of molecular breeding of cruciferous plants, especially Brassica species, and has promising application prospects.

This invention discloses an anti-phage system based on ESCRT-III and its applications, relating to the field of biotechnology. This invention utilizes the coding genes for two structural proteins of the Hoda_Snf7_1 and Hoda_Snf7_2 from the Hoda archaea ESCRT-III. Hoda_ snf7_1 and Hoda_snf7_2 This invention is applied to antiphage systems. Compared with existing technologies, the main advantages of the antiphage system of this invention are: (1) it consists of only two genes, making system construction simple and quick; (2) it is composed of structural proteins, making it less prone to losing antiphage activity due to gene mutations; (3) it has a broad-spectrum antiphage effect; and (4) it does not affect the normal growth of host bacteria. This system expands the understanding of antiphage systems and provides new ideas and technical means for preventing and controlling phage contamination in industrial microbial production processes.

This invention discloses a visual analysis and prediction method for the ZNF469 gene mutation status in colorectal cancer, belonging to the field of intelligent medical image analysis technology. It involves acquiring whole-slice images of H&E-stained tissue from colorectal cancer patients and corresponding ZNF469 gene mutation status data, constructing an image label pairing dataset; preprocessing the whole-slice images, cutting them into image patches, and using a pre-trained three-class classification model to filter out cancerous region image patches; extracting the macroscopic structural features of each image patch, and simultaneously constructing a nuclear perception map (Transformer) to extract microscopic nuclear morphological features and cell nuclear spatial topological features. This invention achieves rapid prediction of the ZNF469 gene mutation status in colorectal cancer based on pathological images, without relying on gene sequencing technology, reducing detection costs, shortening the diagnostic cycle, and enabling simultaneous mutation status prediction during pathological slide reading, thus improving the efficiency of colorectal cancer diagnosis.

The application discloses an IGFBP-2 derived polypeptide and application thereof in preparation of an antidepressant, and relates to the technical field of biological medicines. The amino acid sequence of the polypeptide is Pro-Lys-Lys-Leu-Arg-Pro, the N terminal of which is acetylated and the C terminal of which is amidated, and the amino acid sequence is shown as SEQ ID NO:1. The polypeptide has a small molecular weight, can easily penetrate the blood-brain barrier, and has good stability after terminal modification. Animal experiments prove that the polypeptide can significantly improve the depressive behavior of Shank3 gene knockout mice, including improving the spatial cognitive ability, enhancing the social interaction and curiosity, and relieving the anxiety behavior. Cell experiments prove that the polypeptide can significantly improve the viability of hippocampal neuron cells from Shank3 gene knockout mice, and up-regulate the expression level of synaptic plasticity related proteins GluA1 and SYN1. The polypeptide can be prepared by a chemical synthesis method, has low cost, and can be used for preparing a medicine for preventing or treating depression (especially depression related to Shank3 gene mutation).

The present application relates to the field of agricultural technology, in particular to a plant temperature-sensitive male sterility gene mutant tms17 and application thereof.The nucleotide sequence of the plant temperature-sensitive male sterility gene mutant tms17 comprises the nucleotide sequence shown in SEQ ID NO.1 in the sequence listing.The present application screens a new temperature-sensitive male sterile line tms17 by chemical mutagen ethyl methyl sulfone (EMS) mutagenesis of japonica rice variety ZH11, which is completely sterile at high temperature and fertility is restored at low temperature, and the mechanism of temperature-sensitive fertility restoration is disclosed, which provides a new germplasm resource with application potential for rice two-line hybrid breeding.

This invention relates to the fields of microbial genetic engineering and brewing technology, and provides a PDC1 gene mutant strain resistant to 2-phenylethanol and its application in the brewing of wheat-aroma baijiu. The mutant strain is *Saccharomyces cerevisiae* PDC1_473 (HM 03), with the preservation number CCTCC M20252996. The PDC1 gene of this strain has a base mutation from T to C at position 473. When this mutant strain is applied to the solid-state fermentation of wheat-aroma baijiu, it becomes the absolutely dominant fungal community, significantly altering the microbial community structure of the fermentation system, inhibiting the growth of various conditionally pathogenic and spoilage bacteria, strengthening the fermentation environment centered on *Lactobacillus*, and significantly enhancing the rose, citrus, grassy, ​​fatty, and caramel aromas of the baijiu. It imparts a pleasant, rich ester aroma and complex aroma to the baijiu, increasing its fullness, and has broad application potential in the brewing of wheat-aroma baijiu.

Provided is a method for production by direct transdifferentiation of somatic cells into another somatic cells which is convenient, has good reproducibility, is excellent in production efficiency, and is performed in a short period of time. The method for production by direct transdifferentiation of somatic cells into another somatic cells comprises: (a) a step of introducing a GLIS family gene, a mutated GLIS family gene or a gene product thereof into somatic cells; and (b) a step of culturing the gene-introduced somatic cells in a culture medium containing a component that induces differentiation of the somatic cells or precursor cells of the somatic cells into another somatic cells.

The application discloses a NtPPO gene homozygous mutant and application thereof, and the application is: (1) reducing polyphenol oxidase activity of tobacco leaves; (2) reducing browning degree of tobacco in curing; the NtPPO gene mutant comprises mutant types of NtPPO1, NtPPO2, NtPPO3 and NtPPO4; the NtPPO gene mutant comprises mutant types of NtPPO1, NtPPO2, NtPPO3 and NtPPO4; the nucleotide sequence of the NtPPO1 gene mutant type is shown in SEQ ID NO. 1; the nucleotide sequence of the NtPPO2 gene mutant type is shown in SEQ ID NO. 2; the nucleotide sequence of the NtPPO3 gene mutant type is shown in SEQ ID NO. 3; and the nucleotide sequence of the NtPPO4 gene mutant type is shown in SEQ ID NO. 4.

This invention belongs to the pharmaceutical field and relates to the application of nikkomycin in the preparation of drugs for treating lipid storage myopathy. This invention discloses the use of nikkomycin in the treatment of lipid storage myopathy, particularly in the treatment of simple myopathic neutral lipopathy caused by PNPLA2 gene mutations. Simple myopathic neutral lipopathy is an autosomal recessive, progressive lipid storage myopathy affecting multiple systems throughout the body. Currently, there is no treatment available, and patients develop fatal symptoms such as generalized muscle weakness and cardiomyopathy in the late stages. This invention discovers that nikkomycin can significantly reverse lipid droplet deposition in fibroblasts of patients with simple myopathic neutral lipopathy, reduce inflammatory responses, improve autophagy inhibition, and increase energy production. It can serve as an effective ingredient for treating this disease and has clear application prospects in patients with untreatable simple myopathic neutral lipopathy.

The application belongs to the technical field of biological medicine, and specifically discloses a kind of Exosc9 The application discloses application of a gene mutation animal in construction of an anxiety model and in screening of an anti-anxiety drug. Exosc9 The gene mutation animal is a known model, but the application finds that the animal shows behavior phenotypes related to anxiety through systematic behavior experiments, including a decrease in central zone activity in an open field experiment, a decrease in open arm staying time in a high cross maze experiment, and a decrease in exploration behavior. Through behavior observation and quantitative analysis of the animal, the application can be used to study behavior characteristics of anxiety, compare phenotype differences of animals of different genotypes, genders and ages, and analyze influences of genetic and environmental factors on anxiety behavior. The application also constructs a method for screening of an anti-anxiety candidate drug and evaluation of drug efficacy based on the model, which can greatly shorten an early screening period of drug research and development, and has a wide application prospect in the field of neuropsychiatric disease research and drug research and development.

This invention belongs to the field of agricultural biotechnology and molecular detection technology, and relates to a mutation site in the SdhB gene related to fluopyram resistance in the southern root-knot nematode, along with detection primers and applications. The mutation site involves a change in nucleotide position 1108 from cytosine (C) to thymine (T) at the 5' end of the SdhB gene coding sequence, resulting in a change in amino acid position 190 from proline (P) to leucine (L) at the N-terminus of the SdhB subunit protein encoded by this gene. By introducing a base mismatch, the invention effectively overcomes the problem of false positives in SNP detection using LAMP technology, exhibiting high specificity. No PCR instrument is required; only a constant temperature water bath is needed, significantly shortening the detection cycle. It is simple, rapid, and suitable for field use. Results can be determined visually based on color changes, eliminating the need for electrophoresis, making it suitable for grassroots promotion and large-scale application.

Aspects of the disclosure relate to plants containing one or more of a mutant sler (Solyc08g061560) gene or a homolog thereof, a mutant sp5g (So1yc05g053850) gene or a homolog thereof and a mutant sp (Solyc06g074350) gene or a homolog thereof, as well as methods of producing such plants. In some aspects, such plants have one or more improved traits, such as modified stem length and modified time for flowering and fruit production.

The present invention relates to the use of cannabidiol (CBD) for the treatment of seizures associated with rare epilepsy syndromes. In particular the seizures associated with rare epilepsy syndromes that are treated are those which are experienced inpatients diagnosed with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) with DEPDC5 gene mutation. In a further embodiment the types of seizures include tonic, tonic-clonic and focal seizures without impairment. Preferably the dose of CBD is between 5 mg / kg / day to 50 mg / kg / day.

The application discloses a lung cancer gene mutation prediction method based on unsupervised clustering double-stage attention multi-instance learning, and relates to the technical field of pathological image analysis and gene detection. H&E staining pathological whole section images of non-small cell lung cancer patients and corresponding gene mutation data are collected to construct a data set; the images are preprocessed by using the OTSU method, segmented into blocks and high-dimensional feature vectors are extracted; the block features are grouped into cluster feature sets through unsupervised clustering; a double-stage attention mechanism composed of intra-cluster and inter-cluster is used to hierarchically aggregate and generate global features; finally, a classification model is used to output mutation positive / negative prediction results. The application groups the features through unsupervised clustering and structures the features, combines double-stage attention to strengthen key information, does not need complex manual annotation, adapts to various driver gene mutation prediction requirements, effectively deals with tumor heterogeneity and feature sparsity, improves prediction accuracy and generalization ability, and provides low-cost and efficient targeted therapy preliminary screening technical support for clinics.

The present application provides use of a PI3Kα inhibitor in the manufacture of a medicament for treating a disease associated with a PIK3CA or / and TEK gene mutation. In particular, the present application provides use of a PI3Kα inhibitor CYH33 or a pharmaceutical composition comprising CYH33 in the manufacture of a medicament for preventing, treating or alleviating a PIK3CA-related overgrowth syndrome (PROS) and / or a PIK3CA-related vascular malformation (PRVM), and / or a TEK gene mutation-related vascular malformation.

Provided are a method for augmenting crop genotype data based on genotype position information and a method for constructing a training dataset of a crop phenotype prediction model by using same. The method for augmenting genotype data, according to an embodiment of the present invention, extracts an embedding vector from genome data including genotype data of crops and positional data of each genotype, and generates, from the extracted embedding vector, new genotype data different from the genotype data of the preprocessed genome data. Accordingly, diverse and sufficient training datasets for the crop phenotype prediction model are constructed, thus solving the problem of insufficient training datasets, and when the genotype data is augmented, SNP positional dependencies may be reflected so that genetic mutations occur only at realistically significant positions, thereby augmenting the genotype data to match actual biological characteristics.

The application relates to the technical field of genetic engineering, in particular to application of a maize MYBR47 gene in regulation of grain traits and variety selection and a transgenic plant cultivation method, wherein the sequence of the MYBR47 gene is shown as SEQ ID NO:1. A nitrogen response gene MYBR47 is found in the maize, the MYBR47 mutation can affect the grain size, starch and protein content; the yeast single hybridization result shows that the gene regulates the development of the maize grain by affecting cell division / expansion. The gene MYBR47 can be used to cultivate new varieties with different grain sizes and improved nitrogen utilization efficiency, and lays a foundation for the application practice of maize breeding.

Provided herein are compositions and methods for treating and / or preventing chronic kidney disease (CKD) in a subject harboring a mutation in a terminal complement gene. The disclosed compositions and methods employ an agent capable of modulating, inhibiting, or otherwise affecting the formation and / or activity of the membrane attack complex (MAC), thereby reducing or preventing complement-mediated kidney injury associated with terminal complement gene defects.

This invention discloses a recessive nuclear male sterility gene. BoaGMS1 Application in regulating male development in Chinese kale. This invention screens recessive nuclear male sterility mutants from Chinese kale breeding and isolates the Chinese kale male fertility gene using forward genetics. BoaGMS1 Further experiments confirmed that BoaGMS1 A gene mutation resulted in recessive nuclear male sterility in Chinese kale. Meanwhile, targeting... BoaGMS1 Cosegregating molecular markers developed for male-sterile lines can be used for identifying fertility alleles in plants, screening target plants in marker-assisted breeding, and determining seed purity. Furthermore, they can be used in the development of kale. BoaGMS1 Male-sterile lines can be applied to the breeding and production of new hybrid varieties of Chinese kale. Therefore, the male fertility gene for Chinese kale provided by this invention... BoaGMS1 BoaGMS1 BoaGMS1 BoaGMS1 BoaGMS1 BoaGMS1 BoaGMS It plays an important role in the utilization of heterosis and hybrid seed production of Chinese kale and even Brassica oleracea vegetables.

This invention discloses a PVA / Fe3O4 / GO nanocomposite material, its preparation method, and a method for cryopreservation of oocytes based on a synergistic anti-icing effect. This composite nanomaterial combines polyvinyl alcohol, iron(III) oxide, and graphene oxide through hydrogen bonding and electrostatic interactions. It can reduce the supercooling of the solution during freezing, inhibiting the formation of sharp ice crystals. During the rewarming stage, it can inhibit recrystallization of ice crystals. Under the influence of external laser and alternating magnetic field, it can rapidly heat the solution, reducing internal thermal stress and anti-vitrification during the rewarming stage. This invention utilizes this nanocomposite material and a single, low-concentration permeable cryopreservative to achieve mass cryopreservation of oocytes. Oocytes cryopreserved using this nanocomposite-assisted method have higher survival rates after thawing and fewer gene mutations compared to traditional methods. Oocytes thawed using this cryopreservation method can achieve normal fertilization, development, and in vivo transplantation to produce healthy mouse offspring.

The present application relates to the field of biotechnology, in particular to a tobacco NtClpR4 gene and application. The present application clones a nicotine transformation related gene NtClpR4 from tobacco for the first time, which encodes an ATP-dependent tyrosine protease Clp related subunit, the amino acid sequence is shown as SEQ ID NO: 2, and the nucleotide sequence is shown as SEQ ID NO: 1; the gene product affects the synthesis of nornicotine. After mutation of the NtClpR4 gene, the nicotine content of cured tobacco leaves decreases, and the nornicotine content increases, which provides a new technical means for nicotine transformation regulation and tobacco breeding.

This application belongs to the field of molecular biology technology, specifically relating to nucleic acid combinatorial products, kits for identifying Mycobacterium tuberculosis complexes and detecting drug resistance gene mutations, and their applications. This application provides a nucleic acid combinatorial product for tNGS detection of Mycobacterium tuberculosis complexes and related drug resistance genes, comprising at least one pair of primers selected from the nucleotide sequences shown in SEQ ID NO.1 to SEQ ID NO.344. Through optimized primer design, this product significantly improves multiplex PCR amplification efficiency and detection sensitivity. Compared to other NGS technologies such as single-molecule sequencing, this product significantly reduces detection costs while ensuring comprehensive detection, and can complete the entire analysis process from sample processing to result reporting within 24 hours. Furthermore, this nucleic acid combinatorial product also has species identification capabilities, accurately distinguishing Mycobacterium tuberculosis complexes and their species and variant levels, thereby achieving synergistic improvements in detection breadth, cost, timeliness, and identification accuracy.

The application discloses a same-disease patient matching method and system based on pathological characteristics and treatment cycles, and the method comprises the following steps: acquiring multi-dimensional data of objective medicine, social demography and platform behavior of a user; pre-processing and extracting features of the multi-dimensional input data, and constructing a multi-dimensional rehabilitation feature model comprising biological, social demographic and behavior cognitive feature vectors; based on dynamic weight matching calculation of the whole treatment cycle, matching and calculating the multi-dimensional rehabilitation feature model of the target user with a candidate user database; according to the calculation result of the matching calculation, combining the calculation result of the time sequence prognosis guidance logic, generating a sorted patient friend recommendation list, and pushing it to the target user. The application can accurately recommend the same-disease patient friends with the same gene mutation, treatment path coverage and survival guidance value for the critical patients by mining multi-dimensional medical data and dynamic behavior characteristics.