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The overall goal of this proposed project is to identify rare genetic variants contributing to childhood onset-Crohn disease. Crohn disease is a chronic inflammatory disorder of the gastrointestinal tract of unclear etiology and no known cure. Affected children suffer from diarrhea, abdominal pai...

Rare disease susceptibility alleles in children with Crohn disease
Rare disease susceptibility alleles in children with Crohn disease
Fibrolamellar carcinoma (FLC) is a liver tumor with a high mortality burden and few treatment options. A promising therapeutic vulnerability in this disease is its highly conserved driver mutation: a gene fusion between DNAJB1 and PRKACA, which is expressed in virtually all FLC tumors and could be a...
ORGANISM(S): Homo sapiens (Human) 
2024-05-24 | PXD042316 | Pride
Genomics
Identification of rare HLA alleles
Maize diversity to study rare alleles
Grain weight is an important crop yield component; however, its underlying regulatory mechanisms are largely unknown. Here, we identify a grain-weight quantitative trait locus (QTL) encoding a new-type GNAT-like protein that harbors intrinsic histone acetyltransferase activity (OsglHAT1). Our geneti...
ORGANISM(S): Oryza sativa Japonica Group 
Genomics
Biology of Rare Alleles in Maize
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