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GenomicsNational Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) Consortium Glaucoma Genome-Wide Association Study

This is a case-control study of primary open angle glaucoma (POAG). POAG is an intraocular pressure (IOP) related progressive optic neuropathy that ultimately leads to blindness. For this study we have formed a collaborative consortium contributing 2170 POAG cases and 2347 controls with a unified...

phs000238.v1.p1 | EGA
UnknownAge-associated B Cells Appear in Patients with Granulomatous Lung Diseases.
Not available
S-EPMC7528799 | biostudies-literature
ProteomicsHeterogeneous adaptation of cysteine reactivity to a covalent oncometabolite
Metabolism and signaling intersect in the genetic cancer syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a disease in which mutation of the TCA cycle enzyme fumarate hydratase (FH) causes hyperaccumulation of fumarate. This electrophilic oncometabolite can alter gene activity at...
ORGANISM(S): Homo sapiens (Human) 
2021-05-06 | PXD020073 | Pride
Human Cysteine reactivity Kidney Hlrcc Uok268 
UnknownTargeting aberrant glutathione metabolism to eradicate human acute myelogenous leukemia cells.
Not available
S-EPMC3837103 | biostudies-literature
UnknownThe genetic legacy of a global marine invader.
Not available
S-EPMC12012486 | biostudies-literature
UnknownTargeting NAD+ Metabolism Vulnerability in FH-Deficient Hereditary Leiomyomatosis and Renal Cell Carcinoma with the Novel NAMPT Inhibitor OT-82.
Not available
S-EPMC12278184 | biostudies-literature
UnknownA rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Not available
S-EPMC4167609 | biostudies-literature
UnknownBuilding a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
Not available
S-EPMC10806731 | biostudies-literature
UnknownThe challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Not available
S-EPMC11340206 | biostudies-literature
UnknownIND-Enabling Studies for a Clinical Trial to Genetically Program a Persistent Cancer-Targeted Immune System.
Not available
S-EPMC6359988 | biostudies-literature
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