Search Results - mutations

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Human Cell Lines with NGLY1 Mutations for the Study of NGLY1 Deficiency and Therapeutic Development

Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. Although more than 100 different CDGs have been reported, only one has been thoroughly described, namely NGLY1 deficiency or NGLY1-CDG. NGLY1 encodes N-glycanase 1, an enzyme involved in the cytosolic...

Published: 7/25/2024 | Inventor(s): William Gahl, May Malicdan, Lynne Wolfe

Keywords(s): Cell, Human, Lines, Mutations, NGL, VEXXXX, WIXXXX, Y1

Category(s): Application > Research Materials, TherapeuticArea > Neurology

Human Serous Endometrial Cancer Cell Lines CRISPR-edited to knock-in FBXW7 mutations for Use in Cancer related Molecular and Cellular Studies

This technology includes endometrial cancer cell lines for use in molecular and cellular studies to determine the effects of cancer-associated FBXW7 (F-box and WD repeat domain-containing 7) mutations, including but not limited to biochemical studies, proteomic studies, and drug sensitivity/resistance studies. Clustered Regularly Interspaced Palindromic...

Published: 7/25/2024 | Inventor(s): Mary Urick, Daphne Bell

Keywords(s): CANCER, Cell, CRISPR-edited, endometrial, FBXW7, Human, Knock-in, Lines, Mutations, Serous, VCXXXX, WIXXXX, XEXXXX

Category(s): TherapeuticArea > Oncology, Application > Therapeutics, Application > Research Materials

Synthetic Genes for the Treatment of Propionic Acidemia (PA) Caused by Mutations in Propionyl-coA Carboxylase Alpha (PCCA)

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed...

Published: 7/25/2024 | Inventor(s): Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALPHA, Carbox, CAUSED, GENES, Lase, Mutations, PA, Pcca, Propionic, PropionylcoA, Synthetic, treatment, VPXXXX, WIXXXX, XEXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Infectious Disease, TherapeuticArea > Cardiology, TherapeuticArea > Oncology, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Research Materials

Improved Live-Attenuated Vaccine for Respiratory Syncytial Virus (RSV) Bearing Codon-Pair Deoptimized NS1, NS2, N, P, M and SH Genes and Additional Point Mutations in the P Gene

RSV is the most important viral agent of severe respiratory disease in infants and young children worldwide and also causes substantial morbidity and mortality in older adults. RSV is estimated to cause more than 33 million lower respiratory tract illnesses, three million hospitalizations, and nearly 200,000 childhood deaths worldwide annually, with...

Published: 7/25/2024 | Inventor(s): Cyril Le Nouen, Ursula Buchholz, Peter Collins

Keywords(s): ADDITIONAL, BEARING, Codonpair, DA4BXX, DA4XXX, DAXXXX, DC5BXX, DC5XXX, DCXXXX, DDXXXX, Deoptimized, DXXXXX, GENES, Improved, Live-Attenuated, M, Mutations, N, NS1, NS2, P, Pgene, POINT, respiratory, RSV, SH, Syncytial, Vaccine, virus

Category(s): Collaboration Sought > Collaboration, Application > Research Materials, Application > Diagnostics, Application > Vaccines, TherapeuticArea > Infectious Disease

A Genetic System in Yeast for Functional Identification of Human p53 Mutations

Mutations in the p53 gene are associated with 50% of all cancers and nearly 80% of the p53 mutations are missense changes. We have developed genetic assays based in yeast that can functionally categorize expressed p53 mutant proteins. The combined assays are referred to as the FIP53 system. Because human p53 cDNA can be conveniently cloned in yeast,...

Published: 7/25/2024 | Inventor(s): Alberto Inga, Michael Resnick

Keywords(s): CA1XXX, CAXXXX, FUNCTIONAL, GAXXXX, Genetic, Human, Identification, Listed LPM Wong as of 4/15/2015, Mutations, p53, Patent Category - Biotechnology, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, SACGHS DNA Patent Initial Set, System, X, Yeast

Category(s): Collaboration Sought > Licensing, TherapeuticArea > Oncology, Application > Diagnostics, Application > Therapeutics

Dengue Vaccines: Tools for Redirecting the Immune Response for Safe, Efficacious Dengue Vaccination

This CDC-developed invention relates to dengue vaccines that have been specifically developed for improved efficacy and directed immune response to avoid antibody-dependent enhancement (ADE) safety issues that, theoretically, may be associated with dengue vaccines and vaccinations. Dengue viral infection typically causes a debilitating but non-lethal...

Published: 7/25/2024 | Inventor(s): Wayne Crill, Holly Hughes, Brent Davis, Gwong-Jen Chang

Keywords(s): CDC Docket Import, CDC Docket Import CDC Prosecuting, Containing, Cross-Reactive, DB4BXX, DB4XXX, DC5BXX, DC5XXX, DCXXXX, DDXXXX, DENGUE, DNA vaccine, DXXXXX, E-GLYCOPROTEIN, Eliminate, Epitopes, Immunodominant, insect, Insects, Mosquito, Mosquitoes, MULTIVALENT, Mutations, OID-NCEZID-DVBD, POLYPEPTIDES, Serotype, Serotypes, That, Vacccination, Vaccine, Vector-borne, Vector-borne diseases, virus, VLXXXX, WJXXXX, WMXXXX, XCXXXX, XEXXXX, YBXXXX, YCXXXX

Category(s): Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Infectious Disease, Application > Vaccines, Application > Consumer Products, Application > Research Materials, Application > Diagnostics

Rapid and Sensitive Detection of Nucleic Acid Sequence Variations

The ability to easily detect small mutations in nucleic acids, such as single base substitutions, can provide a powerful tool for use in cancer detection, perinatal screens for inherited diseases, and analysis of genetic polymorphisms such as genetic mapping or for identification purposes. Current approaches make use of the mismatch that occurs between...

Published: 4/8/2024 | Inventor(s): Kenji Adzuma, Kiyoshi Mizuuchi, Katsuhiko Yanagihara

Keywords(s): (4)r syndrome, AC6XXX, ACXXXX, AXXXXX, C syndrome, CA1AXX, CA1XXX, CAXXXX, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, CXXXXX, Cystic fibrosis, Detection, DNA, Fragile X syndrome, G syndrome, Genetic, Huntington disease, Huntington disease; Huntington's disease, Hypertelorism with esophageal abnormality and hypospadias, IA6XXX, IAXXXX, Insertion, IXXXXX, Method, Mismatch-Targeted, Muscular dystrophy, Mutations, N syndrome, R(6) syndrome, R(7) syndrome, Syndrome X, Transposon, W syndrome, W syndrome; Syndrome W

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Diagnostics, Application > Research Materials, Application > Therapeutics, TherapeuticArea > Oncology

Development of Mutations Useful for Attenuating Dengue Viruses and Chimeric Dengue Viruses

Although flaviviruses cause a great deal of human suffering and economic loss, there is a shortage of effective vaccines. This invention relates to dengue virus mutations that may contribute to the development of improved dengue vaccines. Site directed and random mutagenesis techniques were used to introduce mutations into the dengue virus genome...

Published: 7/25/2024 | Inventor(s): Joseph Blaney, Kathryn Hanley, Brian Murphy, Stephen Whitehead

Keywords(s): ATTENUATING, chimeric, DC5BXX, DC5XXX, DCXXXX, DENGUE, Dengue (Flaviviridae), Dengue Vaccine, Development, DXXXXX, Mutations, UAXXXX, UBXXXX, USEFUL, Viruses

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Vaccines, TherapeuticArea > Rare / Neglected Diseases, TherapeuticArea > Infectious Disease