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SYNGAP1 Mouse Models
Unmet NeedIt is estimated that there are 177 million people in the world affected by non-syndromic intellectual disability and of that group 1% (or 1.77 million people) have a mutation in the SYNGAP1 gene (see SynGAP Research Fund). The SYNGAP1 gene is essential for mental health, and it is known that mutations in the gene lead to severe intellectual...
Published: 6/21/2024   |   Inventor(s): Richard Huganir
Keywords(s):  
Category(s): Technology Classifications > Research Tools > Animal Models
Col3a1G209S heterozygous mice
Unmet Need:Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder. Patients with vEDS present with thin, translucent skin, easy bruising, and a characteristic facial appearance. Most critically, they are at risk for spontaneous rupture of the major arteries, hollow organs, and gravid uterus. Preclinical investigation of...
Published: 6/21/2024   |   Inventor(s): Harry Dietz, Caitlin Bowen, Juan Calderon Giadrosic, Mark Helmers
Keywords(s):  
Category(s): Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Animal Models
Col3a1G938D heterozygous mice
Unmet Need:Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder. Patients with vEDS present with thin, translucent skin, easy bruising, and a characteristic facial appearance. Most critically, they are at risk for spontaneous rupture of the major arteries, hollow organs, and gravid uterus. Preclinical investigation of...
Published: 6/21/2024   |   Inventor(s): Harry Dietz, Caitlin Bowen
Keywords(s):  
Category(s): Clinical and Disease Specializations > Genetic Diseases, Technology Classifications, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Animal Models
Loeys-Dietz Syndrome (LDS) Mouse Strains (Tgfbr2G357W/+ and Tgfbr1M318R/+)
Unmet Need:Loeys-Dietz Syndrome (LDS) is a rare genetic connective tissue disorder that is characterized by a high risk for aneurysm and dissection throughout the arterial tree and phenotypically resembles Marfan Syndrome. Marfan Syndrome and related disorders, such as LDS, have an incidence of 1 in 3000 to 5000 individuals (see UpToDate). LDS is specifically...
Published: 6/21/2024   |   Inventor(s): Harry Dietz, Elena MacFarlane, David Loch
Keywords(s):  
Category(s): Clinical and Disease Specializations > Genetic Diseases, Technology Classifications > Research Tools, Technology Classifications > Research Tools > Animal Models
Inducible OGT Knockout Cell Line
Marketing Summary DraftInducible OGT Knock-out Cell LineJHU Ref #: C17974Value Proposition·        Mouse embryonic fibroblast cell line·        Rapid and reproducible depletion of essential OGT gene·        Enables O-GlcNAc modification studiesUnmet Need·        O-GlcNAcylation (O-GlcNAc) is a nutrient- and stress-responsive post-translational modification...
Published: 6/21/2024   |   Inventor(s): Natasha Zachara, Hana Chang, Michael Wolfgang, Zahra Kazemi
Keywords(s):  
Category(s): Technology Classifications, Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools > Cell Lines
Alpha 2 Collagen VIII (Col8a2) Q455K Knock-in Mouse Model of Fuchs Endothelial Corneal Dystrophy
Unmet Need:Fuchs’ endothelial corneal dystrophy (FECD) is a genetic disease affecting the cornea and is estimated to affect 7% of the adult population (see Aiello et al. 2022). The first genetic defect shown to cause FECD was a point mutation in the alpha 2 collagen 8 gene (Col8a2). The disease results in a buildup of fluid in the cornea and causes...
Published: 6/20/2024   |   Inventor(s): Albert Jun
Keywords(s): Basic Research Biomarker, Cell Lines, Corneal Dystrophy, Discovery/Research Tools, Disease Indication, Eye Disorders, Fuchs' Endothelial Corneal Dystrophy, Fuchs Endothelial Corneal Dystrophy (FECD), In Vitro Research Tool, Mouse Cell Lines
Category(s): Clinical and Disease Specializations, Clinical and Disease Specializations > Rare Diseases, Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools > Cell Lines, Clinical and Disease Specializations > Ophthalmology, Technology Classifications > Research Tools, Clinical and Disease Specializations > Ophthalmology > Corneal Dystrophy, Clinical and Disease Specializations > Ophthalmology > Fuchs' Endothelial Corneal Dystrophy
TC-1/A2
TITLE:  TC-1/A2 cell lineCASE NUMBER:    C04953TECHNOLOGYJHU Scientists characterized the ability of DNA-encoding calreticulin linked to DNA-encoding E7 antigen to generate HLA-A2-restricted E7-specific CD8+ T-cell responses in HLA-A2 (AAD) transgenic mice, as well as antitumor effects against an E7+ HLA-A2+ tumor cell line, TC-1/A2.TECHNICAL DETAILSScientists...
Published: 6/20/2024   |   Inventor(s): Chien-Fu Hung, T.c. Wu
Keywords(s): Basic Research Biomarker, Discovery/Research Tools, In Vivo Research Tool, Knock In Mouse Model, Mouse Model
Category(s): Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools
SEP-GluA1 mouse line
Unmet Need:AMPA-type glutamate receptors (AMPARs) are crucial molecules to study to understand the function the nervous system. These receptors mediate the majority of fast excitatory activities in the mammalian brain, and their regulation is regarded as a key mechanism underlying long-lasting changes that give rise to learning and memory. Elucidating...
Published: 6/21/2024   |   Inventor(s): Richard Huganir
Keywords(s):  
Category(s): Clinical and Disease Specializations > Neurology, Technology Classifications > Research Tools > Animal Models, Technology Classifications > Research Tools
B7-DC Knockout Mice
Detailed DescriptionThe Pdcd1lg2 gene encodes the costimulatory molecule PD-L2 which is expressed in dendritic cells (DCs). To establish the mouse line Stk 017515 - B6N.129(Cg)-Pdcd1lg2tm2Dmp/J which is deficient for PD-L2, a genomic fragment containing exon 2 of the programmed cell death 1 ligand 2 (Pdcd1lg2 which encodes PD-L2) gene, two of loxP sites...
Published: 6/20/2024   |   Inventor(s): Drew Pardoll, Lieping Chen, Kevin Gorski, Haruo Tsuchiya, Tahiro Shin
Keywords(s): Discovery/Research Tools, In Vivo Research Tool, Knock Out Mouse Model, Mouse Model, Translational Research Biomarker
Category(s): Technology Classifications > Research Tools > Animal Models
Targeting PTPN22 in Cancer Therapy
Unmet NeedTumor-infiltrating lymphocytes (TILs) such as B-cells, T-cells, and natural killers are gaining traction in anti-tumor immune responses. TILs involve the use of special immune cells called T-cells, otherwise known as lymphocytes, which protect the body from viral infections, fight cancer, and coordinate the activities of other cells during...
Published: 6/20/2024   |   Inventor(s): Elizabeth Jaffee, Won Jin Ho, Soren Charmsaz
Keywords(s): Cancers, Combination, Discovery/Research Tools, Disease Indication, In Vivo Research Tool, Knock Out Mouse Model, Mouse Model, Target, Targeted Therapy/Immunotherapy, Therapeutic Matter, Therapeutics, Therapy Type
Category(s): Clinical and Disease Specializations > Oncology, Technology Classifications > Therapeutic Modalities > Targets, Technology Classifications > Therapeutic Modalities > Immunotherapies, Technology Classifications > Research Tools > Animal Models
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