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In non-neuronopathic type 1 Gaucher disease (GD1) mutations in GBA1 gene results in deficiency of glucocerebrosidase and the accumulation of glucocerebroside in lysosomes of mononuclear phagocytes. The metabolic defect leads to a complex phenotype involving the viscera, the bone marrow and the skele...
ORGANISM(S): Mus musculus 
The XPF-ERCC1 endonuclease is required for repair of helix-distorting DNA damage and interstrand crosslinks. Here we have engineered a severe mutation in Ercc1 gene (in which the last 7 amino acids are missing; named as "Ercc1-delta") leading to extreme sensitivity to DNA crosslinks and progeria.To ...
ORGANISM(S): Mus musculus 
We compared the complete mouse liver, spleen, lung and kidney transcriptome of adult 13- and 130-wk old wt C57Bl/6J mice (n=3) to develop gene sets for young adult and aged wt mice, respectively
ORGANISM(S): Mus musculus 
Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct subgroup of childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) shown to have a dismal outcome on standard therapy. For improved diagnosis and prognosis of these patients, the initiating genetic events need to ...
ORGANISM(S): Homo sapiens 
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