66 results about "Genes human" patented technology

To provide a new composition for increasing expression of the Klotho gene and an application thereof.SOLUTION: The present disclosure provides, in one aspect, the following invention: a composition for enhancing expression of the human Klotho / KL gene, the composition comprising at least a portion of a protein belonging to the TNF superfamily or a nucleic acid encoding at least a portion of the protein.SELECTED DRAWING: None

Disclosed are capsid-modified rAAV expression vectors, as well as infectious virions, compositions, and pharmaceutical formulations containing them. Also provided are methods of preparing and using the disclosed capsid-protein-mutated rAAV constructs in a variety of diagnostic and therapeutic modalities, including, inter alia, as mammalian cell-targeting delivery agents, and as human gene therapy vectors. Also disclosed are large-scale production methods for capsid-modified rAAV expression vectors, viral particles, and infectious virions having improved transduction efficiencies over those of the corresponding, un-modified, rAAV vectors, as well as use of the disclosed compositions in the manufacture of medicaments for a variety of in vitro and / or in vivo applications.

Studies of non-human species are often pursued to validate or extend the biological insights of studies exploring gene-phenotype relationships in humans. When the results of non-human studies do not align with those of human studies, various questions arise regarding the study design, contextual factors, reagents and assays employed, and other related aspects. It is arguable that outside of the experimental conditions, there could be biological reasons why non-human and human studies produce discordant results exploring gene-phenotype relationships. These reasons might include the possibility that the gene in question has evolved a different function in one of the species or that the regulatory mechanisms governing its expression have undergone changes. This study assessed the potential of certain gene features, such as sequence conservation levels and aspects of regulatory architecture, to explain the concordant and discordant results obtained from studies involving humans and mice.

The invention provides a construction method and application of a WARS2 point mutation mouse model. A part of gene segments of a sixth exon of an endogenous WARS2 gene in a homologous chromosome of a mouse are humanized, and WARS2 c.799Ggt, WARS2 c.799Ggt, WARS2 c.799Ggt, WARS2 c.799Ggt, WARS2. And the C (p.Ala267Pro) site is subjected to point mutation. The construction method disclosed by the invention provides convenience for obtaining a mouse model which is similar to human WARS2 gene p.Ala267Pro pathogenic mutation, and provides a basis for researching related factors of human WARS2 A267P / A267P mutation and diagnosing and treating the human WARS2 gene p.Ala267Pro pathogenic mutation. Therefore, researchers can deeply analyze the biological function of the WARS2 gene, an effective research way and method are provided for exploring the internal relation between the WARS2 gene function and the PD pathogenesis, and a foundation is laid for related application.

The invention discloses an enhancer regulatory element for transcriptional regulation expression of a human LTF gene and application of the enhancer regulatory element. The sequence of the regulatory element is SEQ ID No.1. Experiments prove that the human specific regulatory element can significantly activate report gene expression (improved by 14.93 times) in a bovine mammary epithelial cell line (MACT), the limitation of dependence on species conservative elements in the prior art is broken through, and an expression system designed based on the element can realize human level LTF high-efficiency expression. And a brand new tool is provided for development of mammary gland bioreactors and functional dairy products.

Disclosed are in vitro transcribed (IVT) messenger RNAs (mRNAs) comprising a polynucleotide that encodes human TJP2 gene, a 5' terminal cap, and a poly-adenylation (poly- A) tail at the 3' terminal end. In aspects, the polynucleotide is substantially free of uridine bases and comprises pseudouridine bases. Methods, compositions and uses employing the IVT mRNA for treating or preventing progressive familial intrahepatic Cholestasis type IV (PFIC type 4) in a patient in need thereof is also disclosed.

The present invention relates to a method for the expression of genes belonging to different organisms (bacteria, fungi, plants, animals and humans) in P. pastoris cells, comprising the following processing steps;i. Transfer of the gene to be expressed into the plasmid carrying the alcohol oxidase 1 (AOX1) promoterii. Cloning of the plasmid carrying the geneiii. Transfer of the recombinant plasmid carrying the AOX1 promoter and gene into the expression hostiv. Induction of the AOX1 promoter with farnesol and consequent expression of the heterologous gene.The present invention will be used in the field of recombinant protein production.

The invention relates to a method and a kit for detecting severe acute respiratory syndrome coronavirus type 2. A detection primer group is provided and takes a specific genosome fragment of the severe acute respiratory syndrome coronavirus type 2 as an amplification marker. When the primer group is used for detecting the severe acute respiratory syndrome coronavirus type 2, the primer group can tolerate at least 200-resistance human genosome DNA interference reverse transcription polymerase chain reaction, so that the detection sensitivity is not easily interfered by the human genosome DNA in a detected body.

The invention belongs to the technical field of gene editing, and particularly relates to sgRNA for TYROBP allele knockout and application of the sgRNA. According to the present invention, the action site of the sgRNA is located on the first exon of the human TYROBP gene, and specifically comprises the TYROBP-gRNA2 represented by the nucleotide sequence such as SEQ ID NO. 2; on the basis of a CRISPR / Cas9 technology, allele editing of the human TYROBP gene is achieved through specific sgRNA, and the allele knockout efficiency of the human TYROBP gene reaches 90% or above. Therefore, according to the technical scheme, the knockout efficiency of the TYROBP gene is improved, the construction cost of the TYROBP allele knockout cell strain is reduced, and the TYROBP allele knockout cell strain has actual popularization and application value.

The application discloses a method for constructing a CRBN gene humanized mouse model, which comprises replacing a knockout region of a mouse CRBN gene with a knock-in region of a human CRBN gene, so that the CRBN gene humanized mouse model is constructed, and the CRBN gene of the CRBN gene humanized mouse model is subjected to amino acid substitution of S369C, V380E, I391V and E431D. The application replaces a key functional domain of a mouse endogenous CRBN gene with a corresponding sequence of a human CRBN gene, so that the mouse can express a functional human CRBN protein, thereby solving the problem of lack of sensitivity of a wild-type mouse to a CRBN-dependent drug. The model provides an ideal preclinical experimental platform for studying the efficacy, toxicity and mechanism of action of a CRBN-related drug.

The invention relates to a construction method and application of a spontaneous and persistent ventricular tachycardia animal model, in particular to a spontaneous and persistent ventricular tachycardia rat model based on MYL4 gene defect and myocardial infarction induction. The model is constructed by utilizing the synergistic effect of double pathological factors of MYL4 gene conserved gene defects and acquired myocardial infarction, the induction rate of the model is greater than or equal to 90%, the spontaneous duration time reaches 1-3 min, and the method is obviously superior to an existing construction method for inducing the spontaneous and continuous ventricular tachycardia model. The model can simulate the pathophysiological process of ventricular tachycardia after human MYL4 gene related cardiovascular diseases combined with myocardial infarction, provides general technical support for ventricular arrhythmia pathogenesis research, drug screening and medical instrument research and development, and has wide scientific research and clinical transformation value.

Provided herein are compositions and methods for modifying the human gene, APOC3. Such compositions and methods may result in the reduction of the protein, apolipoprotein C3 (apoC-III) when administered to a human subject. Compositions and methods provided herein may comprise a CRISPR-associated (Cas) protein or uses thereof. Compositions and methods of the present disclosure may be useful for treatment of APOC3 associated conditions, including persistent chylomicronemia, familial chylomicronemia syndrome (FCS) and severe hypertriglyceridemia (SHTG).

The invention relates to a method for associating gene mutation points with specific physiological characteristics. The method comprises the following steps: receiving a sequenced test gene sequence from a human gene database; taking out a test sequence fragment with the gene length equal to the window length from the test gene sequence by adopting a sliding window with the window length; analyzing the test sequence fragments by using the prediction model; based on the analysis, determining whether the test sequence fragment is associated with a specific physiological feature; and determining that the test gene locus located at the center of the test sequence fragment is a gene mutation point associated with the specific physiological feature in response to judging that the test sequence fragment is associated with the specific physiological feature.

Provided herein are compositions, systems, and methods for modifying a human APOC3 gene, PCSK9 gene, or ANGPTL3 gene. Systems, compositions, and methods may comprise a CRISPR-associated (Cas) protein or uses thereof. Systems, compositions, and methods of the present disclosure may be useful for treatment of APOC3 associated conditions, including familial chylomicronemia syndrome (FCS) and severe hypertriglyceridemia (SHTG).

Provided is a method of differentiating a pluripotent stem cell of mammalian origin into a desired cell type by predicting the direction of cell differentiation to be caused by induction of expression of a transcription factor. A human gene expression correlation matrix using human cells has been newly created, and further, it has been confirmed that human pluripotent stem cells can be differentiated into a desired cell type by introducing, into the human pluripotent stem cells, a transcription factor cocktail selected from the matrix.

The invention discloses an lncRNA m5C methylation site prediction method based on deep learning, and relates to the technical field of m5C site prediction. The invention aims to solve the problem of low prediction accuracy of the existing lncRNA m5C methylation site method. The method comprises the following steps: acquiring an lncRNA sequence fragment corresponding to a methylated data file in a human gene pool, and constructing a training set by using the lncRNA sequence fragment; performing sequence coding on data in the training set to obtain an original feature vector of the lncRNA, and obtaining a coded training set; and training an lncRNA m5C methylation site prediction model by using the encoded training set to obtain a trained lncRNA m5C methylation site prediction model. Obtaining the original characteristics of the lncRNA sequence to be detected; and inputting the original characteristics of the lncRNA sequence to be detected into the trained lncRNA m5C methylation site prediction model to obtain an m5C site prediction result. The method disclosed by the invention is used for predicting the m5C methylation site of the lncRNA.

A DNA immortalization construct includes a first nucleic acid sequence derived from the 5′ end of human CDKN2A gene exon 2. An EF1α promoter sequence is connected to the first sequence. A first LoxP sequence is connected to the EF1α promoter sequence. A human TERT gene sequence is connected to the first LoxP sequence. A second LoxP sequence is connected to the human TERT gene sequence. An internal ribosomal entrance site (IRES) sequence is connected to the second LoxP sequence. An antibiotic selection gene sequence is connected to the IRES sequence. An SV40 poly-A signal sequence is connected to the antibiotic selection gene sequence. A second nucleic acid sequence is connected to the SV40 poly-A signal sequence and derived from 3′ end of human CDKN2A gene exon 2.

Non-human animals comprising a human or humanized IL-4 and / or IL-4Rα nucleic acid sequence are provided. Non-human animals that comprise a replacement of the endogenous IL-4 gene and / or IL-4Rα gene with a human IL-4 gene and / or IL-4Rα gene in whole or in part, and methods for making and using the non-human animals, are described. Non-human animals comprising a human or humanized IL-4 gene under control of non-human IL-4 regulatory elements is also provided, including non-human animals that have a replacement of non-human IL-4-encoding sequence with human IL-4-encoding sequence at an endogenous non-human IL-4 locus. Non-human animals comprising a human or humanized IL-4Rα gene under control of non-human IL-4Rα regulatory elements is also provided, including non-human animals that have a replacement of non-human IL-4Rα-encoding sequence with human or humanized IL-4Rα-encoding sequence at an endogenous non-human C IL-4Rα locus. Non-human animals comprising human or humanized IL-4 gene and / or IL-4Rα sequences, wherein the non-human animals are rodents, e.g., mice or rats, are provided.

The present invention relates to a novel antisense transcript to the human SLC2A1 (Glut1) gene, variants and fragments thereof. This antisense transcript can be used to modulate Glut1 expression and serve to restore Glut1, and as a therapeutic for treating or preventing Glut 1 deficiency syndrome, or other Glut1 related conditions including certain cancers, diabetes, Alzheimer's disease, and retinitis pigmentosa.

The invention provides a genetic marker detection system containing 68 high-performance autosomal haplotypes and application, and relates to the field of forensic identification. The detection system is formed by combining 68 amplification primer pairs after amplification, and the sequences of the amplification primers are as shown in SEQ ID No. 1 to SEQ ID No. 136. The invention also provides a method for identifying the genetic relationship, which comprises the following steps: S1, collecting a sample, extracting DNA (Deoxyribonucleic Acid), and obtaining a corresponding original sequencing result; s2, comparing an original sequencing result with a human reference genome hg38, and screening to obtain a genetic typing of each MiniHap gene locus; and S3, calculating the likelihood ratio of the specific genetic relationship between the sample pairs, and judging whether the sample pairs have the genetic relationship or not. According to the invention, a haplotype panel containing 68 human MiniHaps gene loci is constructed, and by combining multiple PCR and nanopore sequencing, very high personal identification and genetic relationship identification system efficiency can be achieved, and genetic relationship identification within third level is expected to be realized.

To provide improved nuclease variants, compositions, and methods of using the same for editing the human program cell death 1 (PDCD-1) gene.SOLUTION: The present disclosure generally relates to compositions comprising homing endonuclease variants and megaTALs having improved stability and activity for cleaving a target site of the human PDCD-1 gene and methods of using the same. The present disclosure also contemplates a polypeptide comprising an engineered homing endonuclease modified to improve stability, binding, and cleavage of a target site. The polypeptide includes an I-OnuI homing endonuclease (HE) variant.SELECTED DRAWING: None

DP-2 antagonists reversed PGD2-mediated human hair growth inhibition in a dose-dependent manner in vitro by reducing PGD2-triggered apoptosis and maintaining proliferation of keratinocytes. Hair follicles from approximately half of the alopecia patients exhibited little susceptibility to PGD2's effect in vitro. SNPs in the human DP-2 gene were identified that are associated with hair growth inhibition by PGD2. These findings underscore the role of DP-2 in regulating hair growth and indicate that DP-2 can be an effective approach in preventing and / or treating androgenetic alopecia in patients sensitive to PGD2. Furthermore, the SNPs identified here can be used to identify patients who will benefit from treatment.

The disclosure relates to methods of selecting a cancer patient for treatment with an immune checkpoint inhibitor therapy, including assaying a biological sample from a cancer patient for an expression profile of human genes or human proteins encoded by the human genes, wherein the expression profile (i) is identified using a Cross-Species Tumor Immune Microenvironment algorithm, which is based on murine quantitative trait loci (QTL) mapping, and (ii) is associated with immune checkpoint inhibitor response, selecting the cancer patient who has the expression profile for treatment with an immune checkpoint inhibitor therapy, and optionally administering the immune checkpoint inhibitor therapy to the cancer patient.

The present invention provides a genetically modified non-human animal or the like that functionally lacks an endogenous ABCB1 gene and that functionally expresses the human ABCB1 gene, the genetically modified non-human animal or the like retaining a DNA construct for functionally expressing the human ABCB1 gene, wherein the DNA construct includes a coding sequence for the human ABCB1 gene, a CAR / PXR response element present in the 5' promoter region of the human ABCB1 gene, at least one intron of the human ABCB1 gene, and a sequence of the enhancer region present at the 3' end side of the human ABCB1 gene, and the DNA construct does not include at least a portion of the coding sequence for the human ABCB4 gene or includes only a portion of the human RUNDC3B gene.

To provide a method of generating a hypo-immunogenic pluripotent stem cell.SOLUTION: Provided is a method of generating a hypo-immunogenic pluripotent stem cell, comprising: eliminating activity of both alleles of a B2M gene in an induced pluripotent stem cell (iPSC); eliminating activity of both alleles of a CIITA gene in the iPSC; and increasing expression of CD47 in the iPSC. In one aspect, the iPSC is human, the B2M gene is human, the CIITA gene is human, and the increased CD47 expression results from introducing at least one copy of a human CD47 gene under control of a promoter into the iPSC cell.SELECTED DRAWING: None

Provided herein are methods comprising administering to a cancer patient an agent that modifies expression of a gene or function of a product encoded by the gene, wherein the gene is a human ortholog of a gene that maps to a mouse Chromosome 15 quantitative trait locus (QTL), for example, the human NCF4 gene.

The invention relates to a method for detecting influenza A and B viruses and a kit thereof, and provides a primer group capable of simultaneously detecting the influenza A and B viruses, a first primer pair takes a specific gene body fragment of the influenza A as an amplification label, and a second primer pair takes a specific gene body fragment of the influenza B as an amplification label. When the primer group is used for detecting the influenza A virus and the influenza B virus, the primer group can tolerate at least 300 nanograms (ng) of human genosome DNA interference reverse transcription polymerase chain reaction, so that the detection sensitivity is not easily interfered by the human genosome DNA in a sample.

This application relates to a molecular diagnostic reference for human gene detection, its preparation method, and its application. The reference is a recombinant cell, and the chromosome of the recombinant cell integrates the exogenous human variant gene to be detected in the form of homologous recombination; wherein the recombinant cell is selected from either recombinant mammalian cells or recombinant insect cells. This reference is substantially similar to clinical samples or cell lines of the human variant gene to be detected in terms of structure, performance, and composition, and can fully simulate gene deletion, gene insertion, gene fusion, gene amplification, fragment duplication, gene breakage, SNP, and gene overexpression. Furthermore, the preparation method of the reference is simple to operate, has a short preparation cycle, produces large quantities, has low production costs, and its source and performance are sufficiently stable. During use, the entire process from sample processing to detection can be monitored, exhibiting high biosafety and making it well-suited for application in molecular diagnostic products for human gene detection.

The invention relates to the field of genomes, in particular to an LTalpha humanized genome, a vector and application. According to the application, the human LT alpha gene is used for replacing the LT alpha gene of the mouse, so that the humanized LT alpha mouse can better simulate human immune response.

Compositions and treatment methods for cancer, such as enzalutamide resistant cancers, using one or more alternatives to daclatasvir (DCV). DCV has been shown to inhibit the Tribbles homolog 2 (TRIB2) pseudokinase encoded in humans by the TRIB2 gene, but more potent compounds are described herein that bind and inhibit the TRIB2 pseudokinase with greater affinity. TRIB2 is a target for several types of very aggressive cancers, such as castration resistant prostate cancer (CRPC), small cell lung cancer (SCLC), pancreatic neuroendocrine cancer (PNEC), triple negative breast cancer (TNBC), sarcomatoid kidney cancer, and melanoma.