94 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

1. The name of the product of this design: Fully automatic nucleic acid detection analyzer (iGenebox 3A). 2. Purpose of the product of this design: used for the detection of nucleic acids of multiple pathogenic pathogens and human gene target nucleic acids. 3. The design key point of this appearance design product lies in the shape. 4. The picture or photo that best illustrates the design points: three-dimensional picture.

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.

The present disclosure relates to computer-implemented methods and systems for identifying biosynthetic gene clusters (BGCs) that encode pathways for the production of secondary metabolites. Secondary metabolites that target genes or gene products that are homologous to, e.g., human genes or gene products may have utility as potential drug compounds.

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.

Provided herein are compositions, systems, and methods comprising effector proteins, and uses thereof. These effector proteins may be characterized as CRISPR-associated (Cas) proteins. Various compositions, systems, and methods of the present disclosure may leverage the activities of these effector proteins for the editing and / or engineering of nucleic acids.

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.

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 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.

Drug-inducible, tunable, and multiplexable Clustered Regularly Interspaced Short Palindromic Repeats from Prevotella and Francisella 1 (Cpf1)-based activators, and methods of use thereof.

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

The present invention relates to the technical field of human blood type gene detection, and in particular to a probe PCR detection method capable of specifically detecting human Mur gene. The present invention can rapidly and specifically detect human Mur blood type gene, and establishes a fluorescent quantitative PCR detection method of human Mur blood type gene by using designed primers. The method enhances the specificity of the reaction and greatly shortens the detection time. The detection result can be directly interpreted on computer software, breaking through the limitation of traditional serological detection methods. Compared with the PCR-SSP detection method, the method is more economical and practical, and is simple to operate. The present invention is conducive to large-scale automated screening, is suitable for hospitals, blood stations and other units, can provide an effective reference for the detection of Mur antigen in clinical practice, and ensures the safety of blood transfusion. In this way, the technical problem that the Mur blood type detection technology in the prior art is high in cost and inconvenient for large-scale detection is solved.

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 invention discloses a human CYP2C19 genotype detection method based on a near infrared spectrum technology, a detection model and a model construction method. The detection method comprises the following steps: collecting a human blood sample for near infrared transmission and reflection spectrum detection; determining the CYP2C19 genotype in the human blood sample based on a microarray chip method; the method comprises the following steps: constructing a data matrix of a CYP2C19 genotype and a near-infrared transmission and reflection spectrum of the CYP2C19 genotype, preprocessing data, and establishing a discriminant analysis model; and inputting near infrared reflection spectrum data of a blood sample to be detected into the discriminant analysis model to obtain the CYP2C19 genotype of the blood sample to be detected. According to the method, the data block model is established on the basis of the near infrared spectrum data, the method has the advantages of being rapid, simple and economical in data acquisition method, rapid and accurate recognition of the CYP2C19 gene can be achieved, and rapid and accurate guidance suggestions can be provided for clinical medication.

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.