23 results about "Novel mutation" patented technology

The present disclosure concerns polynucleotides and amino acids of Acidaminococcussp. Casl2a (Cpfl) and methods for their use for genome editing in eukaryotic cells. 20 24 20 14 49 05 M ar 2 02 4 A B S T R A C T 2 0 2 4 2 0 1 4 4 9 0 5 M a r 2 0 2 4

This description relates to polynucleotides and amino acids from Acidaminococcus sp. Cas12a (Cpf1) and methods for their use for genome editing in eukaryotic cells.

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

The present disclosure provides tobacco having genetic modification(s) in a group of ERF genes. Also provided are tobacco plants with altered total alkaloid and nicotine levels and commercially acceptable leaf grade, their development via breeding or transgenic approaches, and production of tobacco products from these tobacco plants. Further provided are compositions and methods for producing tobacco plants having novel mutations or alleles to reduce nicotine levels. Further provided are sequence polymorphisms and molecular markers for breeding tobacco with reduced nicotine or alkaloids while maintaining tobacco leaf grade and tobacco product quality.

The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.

The invention disclosed herein is based on the identification of novel mutations in the JAK2 gene and JAK2 protein. The invention provides compositions and methods useful for diagnosing hematopoietic diseases including, for example, myeloproliferative diseases. The invention also provides compositions and methods useful for determining a prognosis of an individual diagnosed as having a hematopoietic disease.

The present invention relates to the area of improved anti-IgE antibodies and antigen binding agents, and compositions thereof, which target IgE, for instance: for use in treating disorders caused by IgE (such as allergic responses, or certain autoimmune responses); and, in particular, disorders caused by the interaction of IgE with the FcεRI receptor. In particular, this invention relates to improved anti-IgE antibodies and antigen binding agents related to novel mutants of omalizumab (Xolair®). The improved anti-IgE antibodies and antigen binding agents of the invention may have improved affinity for IgE and / or an improved interaction with the Cε2 domain of IgE and / or an improved modified epitope on IgE (for instance further involving the Cε2 domain of IgE) and / or the ability to disassociate IgE from the FcεRI receptor for instance at pharmaceutically-relevant concentrations. In one aspect, improved or novel treatments for IgE mediated disorders are disclosed in which IgE is targeted (for instance free IgE and / or IgE complexed with the FcεRI receptor).

The present disclosure provides tobacco Nic1b locus and associated genes (e.g., a group of ERF genes). Also provided are tobacco plants with altered total alkaloid and nicotine levels and commercially acceptable leaf grade, their development via breeding or transgenic approaches, and production of tobacco products from these tobacco plants. Further provided are compositions and methods for producing tobacco plants having novel mutations or alleles to reduce nicotine levels. Further provided are sequence polymorphisms and molecular markers for breeding tobacco with reduced nicotine or alkaloids while maintaining tobacco leaf grade and tobacco product quality.

The present disclosure relates to polynucleotides and amino acids of Acidaminococcus sp. Cas12a (Cpf1) and methods for their use for genome editing in eukaryotic cells.

The invention belongs to the technical field of molecular detection, and particularly relates to a GluCl2 subunit mutation site-based detection reagent for drug resistance of spider mites to abamectin and a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) detection method. The GluCl gene sequence in a tetranychus urticae population collected from a field is analyzed to find that a new mutation site T76S exists on a GluCl2 subunit, the mutation exists in a field population with multiple abamectin resistance, and the mutation frequency of the site is increased after abamectin treatment. In the process of identifying the mutation site, the mutation site is identified; according to the present invention, the specific recognition site (T 'CAG) of the DdeI restriction enzyme in the sequence is identified, such that the amplification primer is designed, the PCR-RFLP method for T76S mutation site detection is established, and the method has characteristics of rapid enzyme digestion reaction, simple operation, pollution resistance, short time, accurate experiment result, and easy determination.

The present invention relates to polypeptides (in particular, bispecific antibodies) including new mutations that reduce immunogenicity and / or improve purity during manufacture.

The present disclosure concerns polynucleotides and amino acids of Acidaminococcus sp. Cas12a (Cpf1) and methods for their use for genome editing in eukaryotic cells.

The application belongs to the technical field of biology, and specifically discloses a new mutation of ANKRD11 related to KBG syndrome and application thereof. The ANKRD11 gene mutation is any one of the following: a nucleic acid, the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 6281 to No. 6282 are deleted; a polypeptide, compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2, has a p.L2095Gfs*6 mutation. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutation in screening of a KBG syndrome risk population. In the disclosure, the pathogenic gene spectrum of KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The present disclosure provides tobacco having genetic modifications in a panel of ERF genes. Also provided are tobacco plants having altered total alkaloid and nicotine levels and commercially acceptable leaf grades, the development of the tobacco by breeding or transgenic methods, and the production of tobacco articles from these tobacco plants. Compositions and methods for producing tobacco plants with novel mutations or alleles to reduce nicotine levels are also provided. Also provided are sequence polymorphisms and molecular markers for breeding tobacco having reduced nicotine or alkaloid content while maintaining tobacco leaf grade and tobacco product quality.

The present disclosure provides tobacco Nic1b locus and associated genes. Also provided are tobacco plants with altered total alkaloid and nicotine levels and commercially acceptable leaf grade, their development via breeding or transgenic approaches, and production of tobacco products from these tobacco plants. Further provided are compositions and methods for producing tobacco plants having novel mutations or alleles to reduce nicotine levels. Further provided are sequence polymorphisms and molecular markers for breeding tobacco with reduced nicotine or alkaloids while maintaining tobacco leaf grade and tobacco product quality.

The present invention relates to an NP antigen peptide of the SFTS virus, the NP antigen peptide including a novel mutation. NP protein sequences of 56 strains collected from the entire genotype were analyzed, consensus sequences of NP proteins were derived therefrom, and then an NP peptide antigen incorporating an amino acid substitution mutation and having improved structural stability was designed through structural analysis modeling. As a result of evaluating immunogenicity and protective ability using an SFTS virus vaccine composition prepared using the NP peptide antigen, it was found that a vaccine composition comprising the NP antigen of the present invention has an excellent ability to produce an immune response and an excellent ability to protect against SFTS virus infection, and thus the NP antigen peptide according to the present invention can be used in a vaccine composition for severe fever with thrombocytopenia syndrome.

The present disclosure provides tobacco having genetic modification(s) in a group of ERF genes. Also provided are tobacco plants with altered total alkaloid and nicotine levels and commercially acceptable leaf grade, their development via breeding or transgenic approaches, and production of tobacco products from these tobacco plants. Further provided are compositions and methods for producing tobacco plants having novel mutations or alleles to reduce nicotine levels. Further provided are sequence polymorphisms and molecular markers for breeding tobacco with reduced nicotine or alkaloids while maintaining tobacco leaf grade and tobacco product quality.

The invention discloses a construction method and application of an ovarian cancer BRCA1 mutant cell model based on CRISPR / Cas9 (clustered regularly interspaced short palindromic repeats / associated protein 9). According to the invention, an ovarian cancer BRCA1 (c.5091 Tgt; A and c.5521 del) endogenous point mutation cell model is constructed by adopting a CRISPR / Cas9 technology, and experimental conditions of editing BRCA1 by CRISPR / Cas9 in ovarian cancer cells are optimized by adopting multiple transfections or by interfering a mismatch repair pathway key factor MLH1, so that the mutation rate is increased. According to the invention, the novel mutation c.5091 Tgt of BRCA1 is jointly verified in a manner of combining endogenous mutation and exogenous mutation; a and c.5521del can increase the sensitivity of ovarian cancer cells to carboplatin and interfere with the expression of carboplatin sensitive genes. Theoretical and experimental basis is provided for precise diagnosis and treatment and prognosis evaluation of ovarian cancer, and more clinical problems can be solved.

The present disclosure relates to a novel mutant form of an alpha-fucosidase (alpha-L-fucosidase) that exhibits enhanced alpha-(1, 6) fucosidase activity. The present disclosure also relates to compositions comprising the novel mutated forms of alpha-fucosidase, and methods of cleaving alpha-(1, 6) linked fucose in glycoconjugates using the novel mutated forms of alpha-fucosidase.

To find a new mutation effective for improving transglutaminase, and to provide a highly useful modified transglutaminase.SOLUTION: Disclosed is a highly useful modified transglutaminase having an amino acid substitution that results in a reduction in temperature stability, an improvement in heat resistance, an improvement in oxidation resistance, an improvement in reactivity, or conversion into deamidase.SELECTED DRAWING: None

The present disclosure relates to a novel mutant form of alpha-fucosidase (alpha-L-fucosidase) that exhibits enhanced alpha-(1,6) fucosidase activity. The present disclosure also relates to compositions comprising the novel mutant form of alpha-fucosidase, and methods of using the novel mutant form of alpha-fucosidase to cleave alpha-(1,6)-linked fucose in a glycoconjugate.

This invention pertains to mutant Cas9 nucleic acids and proteins for use in CRISPR / Cas endonuclease systems, and their methods of use. In particular, the invention pertains to an isolated mutant Cas9 protein, wherein the isolated mutant Cas9 protein is active in a CRISPR / Cas endonuclease system, wherein the CRISPR / Cas endonuclease system displays increased on-target editing activity relative to a wild-type CRISPR / Cas endonuclease system. The invention also includes isolated nucleic acids encoding mutant Cas9 proteins, ribonucleoprotein complexes and CRSPR / Cas endonuclease systems having mutant Cas9 proteins that display increased on-target editing activity relative to a wild-type CRISPR / Cas endonuclease system.

The present disclosure relates to polynucleotides and amino acids of the Aminococcus sp. Cas12a (Cpf1) and methods for their use in genome editing in eukaryotic cells.