Technologies related to NHGRI

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Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation
Ref: E-113-2010 | Updated: 06/21/2021
Treatment of Oculocutaneous/Ocular Albinism and for Increasing Pigmentation
Ref: NCI-E-113-2010 | Updated: 06/21/2021
Gene Therapy for Niemann-Pick Disease Type C
Ref: TAB-3413 | Updated: 06/04/2021
Codon-Optimized Gene Therapy for Niemann-Pick Disease Type C
Ref: TAB-3414 | Updated: 06/04/2021
Assay for Predicting the Time of Onset of Niemann-Pick Disease Type C (NPC)
Ref: TAB-3415 | Updated: 06/04/2021
Novel Codon-optimized And Tagged Human NPC1 Genes And AAV Vectors For The Treatment Of Niemann-Pick Type C1 Deficiency And Related Conditions
Ref: E-100-2017-0 | Updated: 06/04/2021
Adeno-associated Viral Gene Therapy As A New Treatment For Niemann-Pick Disease Type C
Ref: E-185-2014-0 | Updated: 06/08/2021
An Assay For Predicting The Time Of Onset Of Niemann-Pick Disease Type C (NPC)
Ref: E-060-2013-0 | Updated: 06/08/2021
Non-invasive Pan-Cancer Detection Method
Ref: TAB-3084 | Updated: 06/04/2021
New Pan-Cancer Detection Methods
Ref: E-177-2015-0 | Updated: 06/08/2021
Gene Therapy for Niemann-Pick Disease Type C
Ref: TAB-3004 | Updated: 06/04/2021
Tagged Form of Mut Enzyme and Its Use in Gene Therapy
Ref: TAB-3005 | Updated: 06/04/2021
Tagged Form Of Mutenzyme, Genetic Constructs Incorporating It, And Its Use In Gene Therapy
Ref: E-090-2015-0 | Updated: 06/08/2021
Novel Codon-Optimized Gene Therapeutic for Methylmalonic Acidemia
Ref: TAB-2884 | Updated: 06/04/2021
A Synthetic Methylmalonyl-CoA Mutase Transgene For The Treatment Of Mut Class Methylmalonic Acidemia (MMA)
Ref: E-243-2012-0 | Updated: 06/08/2021
Use of Small Molecules to Treat PARP1-deficient Cancers
Ref: TAB-2870 | Updated: 06/04/2021
Use Of Small Molecules (UT2, C418 And Z26S) To Treat PARP1-deficient Cancers
Ref: E-039-2014-0 | Updated: 06/08/2021
Mouse Model for Methylmalonic Acidemia, an Inherited Metabolic Disorder
Ref: TAB-2683 | Updated: 06/04/2021
Mouse Model Of Renal And Mitochondrial Dysfunction
Ref: E-285-2011-1 | Updated: 06/08/2021
Blood-Based Assay for the Diagnosis and Monitoring of Hyposialylation Disorders
Ref: TAB-2619 | Updated: 06/04/2021
Biomarker For Diagnosis Of Hyposialylation Disorders And Prediction Of Treatment Efficacy
Ref: E-056-2013-0 | Updated: 06/08/2021
Human Melanoma Metastasis Cell Lines Harboring Bcl-2-Like Protein 12 (BCL2L12) Mutations
Ref: TAB-2609 | Updated: 06/04/2021
Human Melanoma Cell Lines Harboring The Bcl-2-Like Protein 12 (BCL2L12) Mutation
Ref: E-145-2012-0 | Updated: 06/08/2021
Predicting Age of Onset of Niemann-Pick Disease
Ref: TAB-2578 | Updated: 06/04/2021
Human Melanoma Metastasis Cell Lines Harboring TRRAP, GRIN2A, and PLCB4 Mutations
Ref: TAB-2523 | Updated: 06/04/2021
Analysis Of The G-Protein Coupled Receptor Family Reveals A High Frequency Of Mutations In Glutamate Receptor, Metabotropic 3 (GRM3) In Melanoma; GRM3 Mutations Identified In Human Melanoma Metastasis Cell Lines
Ref: E-244-2010-0 | Updated: 06/08/2021
Human Melanoma Cell Lines Harboring Mutations In MITF (Microphthalmia-associated Transcription Factor) Pathway
Ref: E-023-2012-0 | Updated: 06/08/2021
Human Melanoma Cell Lines Harboring Mutations In GRIN2A, TRRAP, Or PLCB4
Ref: E-024-2012-0 | Updated: 06/08/2021
Human Melanoma Cell Lines Harboring Mutations In Glutamate Receptor, Metabotropic 3 (GRM3)
Ref: E-029-2012-0 | Updated: 06/08/2021
Mutations in the G Protein Coupled Receptor (GPCR) Gene Family in Melanoma
Ref: TAB-2520 | Updated: 06/04/2021
Human Melanoma Metastasis Cell Lines Harboring GRM3 Mutations
Ref: TAB-2521 | Updated: 06/04/2021
Human Melanoma Metastasis Cell Lines Harboring MITF Mutations
Ref: TAB-2522 | Updated: 06/04/2021
Glucocerebrosidase Non-inhibitory Chaperones for the Treatment of Gaucher Disease, Parkinson's Disease, and Other Proteinopathies
Ref: TAB-2493 | Updated: 06/04/2021
Non-inhibitory Chaperones Of Glucocerebrosidase
Ref: E-144-2012-0 | Updated: 06/08/2021
Non-inhibitory Chaperones Of Glucocerebrosidase
Ref: E-144-2012-1 | Updated: 06/08/2021
Non-inhibitory Chaperones Of Glucocerebrosidase
Ref: E-144-2012-2 | Updated: 06/08/2021
Zuma Mutant Mice as a Tool for Investigating Mammalian Developmental Defects
Ref: TAB-2485 | Updated: 06/04/2021
Small Ribosomal Protein 57 (RPS7) Mouse Mutant As A Tool For Investigating Defects Of Mammalian Development, Such As Those Causing Diamond-Biackfan Anemia
Ref: E-294-2012-0 | Updated: 06/08/2021
Human Renal Epithelial Tubular Cells for Studies of Cystinosis
Ref: TAB-2469 | Updated: 06/04/2021
Human Renal Tubular Cells From Subjects With Cystinosis
Ref: E-204-2012-0 | Updated: 06/08/2021
Model Cell Lines With and Without AKT1 Mutations Derived from Proteus Syndrome Patients
Ref: TAB-2372 | Updated: 06/04/2021
Single-cell Lines Derived From Proteus Syndrome Patients
Ref: E-033-2012-0 | Updated: 06/08/2021
Antagonists of the Hedgehog Pathway as Treatment of Heterotopic Ossification, Vascular Calcification, and Pathologic Mineralization
Ref: TAB-2367 | Updated: 06/04/2021
Heterotopic Ossification (HO) Small Molecule Therapeutic Compounds
Ref: E-116-2011-0 | Updated: 06/08/2021
Encapsulated N-Acetylmannosamine or N-Acetylneuraminic Acid as a Therapeutic Agent for Increasing Sialylation in Certain Muscular Atrophies, Kidney Disorders, Cancers or Poor Immune Function
Ref: TAB-2359 | Updated: 06/04/2021
Use Of Microencapsulated N-acetyl-mannosamine (ManNAc) And Nacetylneuraminic Acid (NANA Or Neu5Ac) To Increase Sialylation In A Mammal.
Ref: E-270-2011-0 | Updated: 06/08/2021
TRRAP and GRIN2A Mutations for the Diagnosis and Treatment of Melanoma
Ref: TAB-2300 | Updated: 06/04/2021
Whole Genome Exome Sequencing In Melanoma Reveals A High Number Of Mutations And/or Recurring Mutations In 16 Genes Including TRRAP And GRIN2A
Ref: E-013-2011-0 | Updated: 06/08/2021
Glucocerebrosidase Activators as a Treatment for Gaucher Disease
Ref: TAB-2252 | Updated: 06/04/2021
Glucocerebrosidase Activators As A Treatment For Gaucher Disease
Ref: E-257-2010-0 | Updated: 06/08/2021
ERBB4 Mutations Identified In Human Melanoma Cell Lines (2690, 2379, 2197, 2183, 2535, 2645, 1770, 2359, 2238, 2319, 2190
Ref: E-229-2010-0 | Updated: 06/08/2021
Isocitrate Dehydrogenase 1 (IDH1) R132 Mutation Human Melanoma Metastasis Cell Line
Ref: TAB-2193 | Updated: 06/04/2021
ERBB4 Mutations Identified in Human Melanoma Metastasis Cell Lines (2690, 2379, 2197, 2183, 2535, 2645, 1770, 2359, 2238, 2319, 2190)
Ref: TAB-2194 | Updated: 06/04/2021
Isocitrate Dehydrogenase 1 (IDH1) R132 Mutation Identified In One Human Melanoma Metastasis Cell Line Named 2633
Ref: E-232-2010-0 | Updated: 06/08/2021
Use of Adenosine Agonists to Prevent Arterial Vascular Calcification Disorder
Ref: TAB-2166 | Updated: 06/04/2021
Use Of Adenosine Agonists To Prevent Arterial Vascular Calcification
Ref: E-094-2010-0 | Updated: 06/08/2021
Mutations of the ERBB4 Gene in Melanoma
Ref: TAB-2055 | Updated: 06/04/2021
Analysis Of The Protein Kinase Family Reveals A High Frequency Of Mutations In ERBB4 In Melanoma
Ref: E-272-2008-0 | Updated: 06/08/2021
Device and Method for Direct Measurement of Isotopes of Expired Gases: Application in Research of Metabolism and Metabolic Disorders, and in Medical Screening and Diagnostics
Ref: TAB-2046 | Updated: 06/04/2021
A Respiratory Chamber And Method Using Direct CO2 Measurement And Isotope Ratio Mass Spectrometry To Measure In Vivo Oxidation Rates Of Amino, Organic And Fatty Acid Substrates In Mice By The Detection And Quantitation Of C13CO2 Production
Ref: E-099-2009-0 | Updated: 06/08/2021
C57BL/6J Embryonic Stem Cell Lines, HGTC-8 (and Others)
Ref: E-038-2009-0 | Updated: 06/08/2021
C57BL/6J Embryonic Stem Cell Lines Generated Using Serum-Free Media
Ref: TAB-1948 | Updated: 06/04/2021
A Parameterized Model for Simulating Microarrays
Ref: TAB-1889 | Updated: 06/04/2021
Simulating Microarrays Using A Parameterized Model
Ref: E-089-2003-0 | Updated: 06/04/2021
Fluorescent Cell Lines for Detection of DNA Damage
Ref: TAB-1797 | Updated: 06/04/2021
hELG-CFP Cell Line For Detection Of Genotoxin
Ref: E-108-2008-0 | Updated: 06/04/2021
N-Acetyl Mannosamine as a Therapeutic Agent
Ref: TAB-1726 | Updated: 06/04/2021
Provision Of The Neutral Sugar N-acetyl Nammosamine (ManNAc) For Increased Intracellular Production Of Sialic Acids
Ref: E-217-2007-0 | Updated: 06/08/2021
Genetic Markers for Body Size in Dogs
Ref: TAB-1532 | Updated: 06/04/2021
Body Size In Dogs Determined By Insulin Growth Factor 1 (IGF1)
Ref: E-009-2007-0 | Updated: 06/08/2021
Genes For Niemann-Pick Type C Disease
Ref: TAB-18 | Updated: 06/04/2021
GENES FOR NIEMANN-PICK TYPE C DISEASE
Ref: E-122-1997-0 | Updated: 06/04/2021
Rapid Integration Site Mapping
Ref: TAB-922 | Updated: 06/04/2021
Technology For Rapidly Mapping Retroviral Intergrations In A High Throughput Manner.
Ref: E-027-2004-0 | Updated: 06/04/2021
SAP/SH2D1A Knockout Mice: A Model for X-linked Lymphoproliferative Disease
Ref: TAB-868 | Updated: 06/04/2021
SAP/SH2D1A Knockout Mice: A Model For X-Linked Lymphoproliferative Disease
Ref: E-343-2003-0 | Updated: 06/04/2021
Methods for Detecting Cancer Cells
Ref: TAB-811 | Updated: 06/04/2021
Tec Kinase Deficient Mice
Ref: TAB-815 | Updated: 06/04/2021
Methods for Detecting Cancer Cells
Ref: E-211-1998-0 | Updated: 06/04/2021
Mice Deficient In The Tec Kinase Rlk
Ref: E-178-2003-0 | Updated: 06/08/2021
RLK/ITK Double Knockout Mice
Ref: E-178-2003-1 | Updated: 06/08/2021
LMNA Gene and Its Involvement in Hutchinson-Gilford Progeria Syndrome and Arteriosclerosis
Ref: TAB-749 | Updated: 06/04/2021
LYMA GENE AND ITS INVOLVEMENT IN HUTCHINSON-GILFORD PROGERIA SYNDROME (HGPS) AND ARTERIOSCLEROSIS
Ref: E-020-2003-1 | Updated: 06/08/2021
Use of Interferon-Inducible 2',5'-Oligoadenylate-Dependent RNase in the Diagnosis, Prognosis, and Treatment of Prostate Cancer
Ref: TAB-650 | Updated: 06/04/2021
Use of Interferon-inducible 2',5'-Oligoadenylate-dependent RNase L in The Diagnosis, Prognosis And Treatment of Cancer
Ref: E-196-2001-0 | Updated: 06/04/2021
Specific Inhibition of Gene Expression By Small Double Strands RNAS
Ref: E-284-2001-0 | Updated: 06/04/2021
Transgenomic Viruses
Ref: TAB-452 | Updated: 06/04/2021
TRANSGENOMIC VIRUSES
Ref: E-011-1997-0 | Updated: 06/08/2021
Tissue Microarray For Rapid Molecular Profiling
Ref: TAB-72 | Updated: 06/04/2021
Tissue Microarrays for Rapid Molecular Profiling
Ref: E-007-1999-0 | Updated: 06/04/2021
Tumor Tissue Microarrays For Rapid Molecular Profiling
Ref: TAB-38 | Updated: 06/04/2021
TUMOR TISSUE MICROARRAYS FOR RAPID MOLECULAR PROFILING
Ref: E-002-1998-0 | Updated: 06/04/2021
AIB1, A NOVEL STEROID RECEPTOR CO-ACTIVATOR AMPLIFIED IN BREAST CANCER
Ref: E-018-1997-0 | Updated: 06/04/2021
AIB-1, A Steroid Receptor Co-Activator Amplified In Breast And Ovarian Cancer
Ref: TAB-33 | Updated: 06/04/2021
MEN1, The Gene For Multiple Endocrine Neoplasia Type 1
Ref: TAB-1745 | Updated: 06/04/2021
Transgenic And Chimeric Viral Delivery Systems
Ref: TAB-365 | Updated: 06/04/2021
MEN1, THE GENE FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE 1
Ref: E-094-1997-0 | Updated: 06/04/2021
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