GEO DataSets

Analysis of muscle from mdx males with a human-specific deletion in the Cmah (cytidine monophosphate-sialic acid hydroxylase) gene. Cmah-/-mdx mice show increased disease severity that better approximates DMD in humans. Results provide insight into the contributions of glycosylation defects to DMD.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 4 genotype/variation, 2 strain sets

Platform:

GPL1261

Series:

GSE16438

12 Samples

Download data: CEL

(Submitter supplied) A deletion in the CMAH gene in humans occurred approximately 3.5 million years ago. This resulted in the inactivation of the CMP-Neu5Ac hydroxylase enzyme, and hence, in the specific deficiency in N-glycolylneuraminic acid (Neu5Gc), a form of sialic acid, in all modern humans. Although there is evidence that this molecular milestone in the origin of humans may have led to the evolution of human-specific pathogens, how deficiency in Neu5Gc might alter progression of non-infectious human diseases remains unanswered. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Datasets:

GDS4200 GDS4770

Platform:

GPL1261

24 Samples

Download data: CEL

Analysis of muscle from mdx males with a human-specific deletion in the Cmah (cytidine monophosphate-sialic acid hydroxylase) gene. Cmah-/-mdx mice show increased disease severity that better approximates DMD in humans. Results provide insight into the contributions of glycosylation defects to DMD.

Organism:

Mus musculus

Type:

Expression profiling by array, count, 4 genotype/variation, 2 strain sets

Platform:

GPL1261

Series:

GSE16438

12 Samples

Download data: CEL

(Submitter supplied) C57BL/6 male mice were fed with normal diet or high fat diet and treated with vehicle or 30 mg/kg/day s.c. of ER-beta ligand, B-LGND2. Genes differentially expressed by H.F.D. and B-LGND2 are represented in this RNA-Sequencing data

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL16331

9 Samples

Download data: TSV

(Submitter supplied) N-glycolylneuraminic acid (Neu5Gc) is generated by hydroxylation of CMP-Neu5Ac to CMP-Neu5Gc, catalyzed by CMP-Neu5Ac hydroxylase (CMAH). However, humans lack this common mammalian cell surface molecule, Neu5Gc, due to inactivation of the CMAH gene during evolution. CMAH is one of several human-specific genes whose function has been lost by disruption or deletion of the coding frame. It has been suggested that CMAH inactivation has resulted in biochemical or physiological characteristics that have resulted in human-specific diseases. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL6885

24 Samples

Download data: TXT, XLSX