Search Results - allele

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Lymphoblastoid Cell Lines with a Specific Allele of ABCA7 Gene for the Screening of Small Molecules for Therapeutic Development
This technology includes lymphoblastoid cell lines from individuals genotyped as carrying the minor (G) allele of ABCA7 SNP rs113809142 [ss491752998; SNV-chr19-1007244], to be used for small molecule screening and eventual therapeutic development. The ABCA7 gene is the ATP-binding cassette, sub-family A (ABC1), member 7. It encodes a protein that is...
Published: 10/28/2024   |   Inventor(s): James ("Jim") Mullikin, Jennifer Johnston, Leslie Biesecker
Keywords(s): ABCA7, ALLELE, Cell, Gene, Lines, Listed LPM Contreras as of 4/15/2015, Lymphoblastoid, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, RXXXXX, Specific, VHXXXX, VPXXXX, WIXXXX, WJXXXX, XEXXXX
Category(s): TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Ophthalmology, Application > Research Materials, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease
Mmut P.R106C/P.R106C Knock-In Methylmalonyl-CoA Mutase (Mmut) Allele mouse models for the Study of Methylmalonic Acidemia (MMA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of the Mmut allele - p.R106C. This allele recapitulates a missense mutation...
Published: 10/28/2024   |   Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, MutaseMmut, P.R106C, P.R106C/, VPXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Ophthalmology, Application > Therapeutics, Application > Research Materials, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Endocrinology, TherapeuticArea > Dental
Mmut P.Pro207_Lysl10del/P.Pro207_Lysl10del Knock-In Methylmalonyl-CoA Mutase (Mmut) Allele Mouse Models for the Study of Methylmalonic Acidemia (MMA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of the Mmut allele -p.Pro207 _Lys210del. In order to create mouse...
Published: 10/28/2024   |   Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, P.Pro207_Lys210del, P.Pro207_Lys210del/, VPXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Dental, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, Application > Research Materials, Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Oncology
Mmut p.G715v/p.G71 Knock-ln Methylmalonyl-CoA Mutase (Mmut) Allele Mouse Models for the Study of Methylmalonic Acidemia (MMA)
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of Mmut allele -p.G715V. This allele recapitulates a missense mutation...
Published: 10/28/2024   |   Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, P.G715V, P.G715V/, VPXXXX, WIXXXX, XEXXXX
Category(s): Application > Research Materials, Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology
Mice with a Floxed Allele of the alpha Subunit of the Heterotrimeric G Protein Go or Gi2
Heterotrimeric G proteins couple signals between GPCRs (G protein coupled receptors) and effectors such as adenylyl cyclase, phospholipase C and ion channels. Among the G proteins are Go and Gi2. Go is highly expressed in the brain and some endocrine tissues while Gi2 is widely expressed throughout the body. The ß?-subunits of Go interact with ion...
Published: 10/28/2024   |   Inventor(s): Joel Abramowitz, Lutz Birnbaumer
Keywords(s): ?, ALLELE, ALPHA, Floxed, G, Gi2, Go, Heterotrimeric, Listed LPM Tong as of 4/15/2015, Mice, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Protein, SUBUNIT, WBXXXX, WIXXXX, WJXXXX, WKXXXX, XEXXXX, YAXXXX
Category(s): Collaboration Sought > Licensing, Application > Therapeutics, Application > Diagnostics, Application > Research Materials
TRPC Knockout (KO) Mice and Mice with a Floxed Allele of TRPC Ion Channel Genes
TRPCs (Canonical Transient Receptor Potential Channels) are a group of non-selective cation channels that allow sodium and calcium into cells. There are seven different genes in mice that code TRPCs. The in vivo roles played by TRPCs as a whole are poorly understood and very little is known about the in vivo roles played by individual TRPCs nor the...
Published: 10/28/2024   |   Inventor(s): Joel Abramowitz, Lutz Birnbaumer
Keywords(s): ALLELE, CHANNEL, Floxed, Gene, ION, Knockout, Listed LPM Tong as of 4/15/2015, Mice, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, TRPC3, TRPC5, TRPC7, WBXXXX, WIXXXX, WJXXXX, WKXXXX, XEXXXX, YAXXXX
Category(s): Collaboration Sought > Licensing, Application > Therapeutics, Application > Research Materials, Application > Diagnostics
2022-084 HUMAN LEUKOCYTE ANTIGEN HAPLOTYPE ANALYSIS TOOLKIT (HLA-HAT)
SUMMARY: UCLA researchers in the department of Medicine, Hematology and Oncology have developed software which facilitates the clinically relevant investigation of genetic antigen heterogeneity within human leukocytes BACKGROUND: Human leukocyte antigen system is a critical component of the immune system. A major part of this is a series of genes...
Published: 9/19/2024   |   Inventor(s): Katie Campbell
Keywords(s): Algorithm, Allele, Autoimmune Disease, Bioinformatics, Biotechnology, CD3 (Immunology) Human Leukocyte Antigen, Functional Genomics, Genetic Algorithm, Genetic Testing, Immunology, Inflammation, Instrumentation & Analysis, Sequencing, Software, Software & Algorithms
Category(s): Life Science Research Tools, Software & Algorithms, Software & Algorithms > Bioinformatics