8 results about "Loss of function mutation" patented technology

A Cucurbita pepo subsp. pepo plant is provided. The Cucurbita pepo subsp. pepo plant comprises a genome having a loss of function mutation in a Cp4.1LG13g07780 gene or ortholog thereof, wherein the loss of function mutation confers a multiflowering (mf) trait. Also provided are methods of producing and using such plants.

A gene signature for evaluating likely sensitivity of a cancer cell to treatment with inhibitors of Werner syndrome RecQ helicase (WRN) is provided. For cancer cells that have microsatellite instability (MSI) and / or mismatch repair deficiency (dMMR), sensitivity to treatment with a WRN inhibitor is likely if the cancer cell has a loss of function mutation in at least two of KMT2D, ARID1A or RAD50, or if the cancer cell has a loss of function mutation in ARID1A only, without loss of function mutations in KMT2D and RAD50. Cancer cells that are MSI and / or dMMR in which both ARID1A and at least one of KMT2D and RAD50 are wild type or have only missense mutations are unlikely to be sensitive to treatment with WRN inhibitors.

Provided is a method for acquiring data on efficacy of a CDK4 / 6 inhibitor in a lung cancer cell, the method including detecting EGFR gene mutation, and CDKN2A / B gene deletion or loss-of-function mutation in a lung cancer cell derived from a lung cancer patient. Presence of EGFR gene mutation, and CDKN2A / B gene deletion or loss-of-function mutation indicates that the CDK4 / 6 inhibitor has efficacy.

A Solanaceous plant exhibiting a parthenocarpy and down-regulation in activity or expression of MBP3 and at least one of AGL6 and MBP22, as compared to a control plant, wherein the control plant is of the same genetic background and developmental stage. Also provided are methods of producing the plant and uses thereof.

To provide pharmaceutical formulations for treating or preventing C5-related diseases. [Solution] A pharmaceutical formulation for use in a method of treating CD55 deficiency accompanied by complement hyperactivation, vascular thrombosis, and protein-losing enteropathy (CHAPLE disease) in a subject, wherein the pharmaceutical formulation comprises an antibody or antigen-binding fragment thereof that specifically binds to C5 and includes three heavy chain complementarity-determining regions of a heavy chain variable region (HCVR) containing a specific amino acid sequence, and three light chain complementarity-determining regions of a light chain variable region (LCVR) containing a specific amino acid sequence, wherein the subject has hypoalbuminemia and is determined to have a CD55 loss-of-function mutation by genetic analysis.

The application discloses OsRNE A gene and application of the gene and a coded protein in rice leaf color regulation and chloroplast development. OsRNE The nucleotide sequence of the gene is shown as SEQ ID NO. 1, and the amino acid sequence of the coded protein is shown as SEQ ID NO. 2. OsRNE The application utilizes CRISPR / Cas9 gene editing technology to knockout the gene and obtain a loss-of-function mutant. The mutation of the gene leads to impaired chloroplast development of rice, affects chlorophyll synthesis, albino of seedlings and death within three-leaf stage, and thus can be used as a marker trait to assist rice molecular breeding at the seedling stage. OsRNE The gene is mainly expressed in leaves, the coded protein is located in chloroplasts, and the chloroplast development and normal growth of seedlings are affected by affecting the metabolism of ribosomal RNA in chloroplasts. Therefore, the application can be applied to molecular genetic breeding of rice leaf color traits, and has important significance for further understanding of a chloroplast development regulation mechanism of rice and yield increase of rice.

Provided are compositions useful for treating an ophthalmological condition due to one or more loss-of-function mutations in the gene encoding the Retinol Dehydrogenase 12 (RDH12) protein. Provided herein are nucleic acids encoding a human RDH12 and vectors comprising an expressible coding region for human RDH12. Also provided are uses of such nucleic acids and vectors for treating ophthalmological disease, including, but not limited to Leber Congenital Amaurosis.

Provided herein are cell lines (e.g., HEK293 cell lines) that comprise a loss-of-function mutation in each of the human Bax and Bak genes, as well as cell cultures comprising the cell lines. The cell lines and / or cell cultures may find use, e.g., in methods for producing a recombinant polypeptide (such as an antibody or antigen-binding fragment thereof) or a viral vector.