GEO DataSets

(Submitter supplied) Despite recent advances in achalasia diagnosis, our understanding of the pathogenesis of achalasia at the molecular level is still very limited and gene expression profiling has yet to be performed. We performed bulk RNA-sequencing on esophageal mucosa from 14 achalasia and 8 healthy subjects.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20301

44 Samples

Download data: TXT

(Submitter supplied) The ALADIN protein is a component of the nuclear pore complex in higher eukaryotes. Alteration in ALADIN is the basis for the human disease called triple A syndrome (Achalasia-Addisonianism-Alacrima Syndrome). A recent report showed that ALADIN deficiency decreases the tolerance to oxidative stress in human cells and impairs their ability to proliferate. An ALADIN homologue exists in plants, but its functions are still unknown. more...

Organism:

Arabidopsis thaliana

Type:

Expression profiling by array

Platform:

GPL17416

12 Samples

Download data: CEL

(Submitter supplied) Background: Moyamoya is a cerebrovascular condition of unknown mechanism characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICA) and the compensatory development of abnormal “moyamoya” vessels. It leads to ischemic and hemorrhagic stroke. We describe a novel autosomal recessive disease leading to severe moyamoya and early onset achalasia and report its cause in 3 unrelated families. more...

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array

Platform:

GPL3718

9 Samples

Download data: CEL, CHP