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Skin biopsies were obtained from a patient with Mitchell-Riley syndrome caused by a homozygous frame-shift mutation (c.1129C>T) in the RFX6 gene that leads to a premature stop codon (p.Arg377X). The patient suffered severe pancreatic agenesis, in common with other Mitchell-Riley syndrome patients. F...
ORGANISM(S): Homo sapiens 
A ptp-3 mutant and wildtype C. elegans were SILAC labeled and subjected to whole proteome analysis and phosphotyrosine enrichment.
ORGANISM(S): Caenorhabditis elegans 
2016-12-14 | PXD003233 | Pride
Transgenerational effects likely have wide-ranging implications for human health, biological adaptation and evolution, however their mechanism and biology remain poorly understood. Here we demonstrate that a germline nuclear small RNA/chromatin pathway can maintain epi-allelic inheritance for many g...
ORGANISM(S): Caenorhabditis elegans 
Recently a new neonatal diabetes syndrome, Mitchell-Riley syndrome, was discovered. To identify the genetic cause of the syndrome homozygosity mapping was used, several chromosomal regions were linked to Mitchell-Riley syndrome. In situ hybridization of genes from one such region using model organ...
ORGANISM(S): Xenopus laevis 
Skin biopsies were obtained from a patient with Mitchell-Riley syndrome and her unaffected father. The patient suffered neonatal diabetes, anaemia, intrauterine growth restriction, pancreatic hypoplasia and duodenal atresia, in common with other Mitchell-Riley syndrome patients. The disease was foun...
ORGANISM(S): Homo sapiens 
This experiment set contains the raw data for 8 arrays that were used in the genomic typing of the pre- and post-mouse H. pylori strains SS1 and SS2000. 10700 is the pre-mouse clinical isolate of SS1 and PMSS2000 is the pre-mouse clinical isolate of SS2000. gDNA from these strains were labeled and h...
ORGANISM(S): Helicobacter pylori 
Endothelial cells form a barrier between the components present in the blood and the underlying tissue. Essential to formation of this barrier are junctional complexes present between cells. These complexes are dynamic, tightly regulated and remodel during key physiological processes such as inflamm...
ORGANISM(S): Homo sapiens (Human) 
2019-11-06 | PXD013003 | Pride
Age-related microvascular dysfunction disrupts nutrient homeostasis and waste clearance, leading to organ failure. However, a critical gap remains in our understanding of the specific molecular drivers of vascular deterioration and how they orchestrate organism-wide aging. Here, we identify progress...
ORGANISM(S): Mus musculus 
Male and female Plasmodium falciparum gametocytes are the parasite lifecycle stage responsible for transmission of malaria from the human host to the mosquito vector. Not only are gametocytes able to survive in radically different host environments, but they are also precursors for male and female g...
2022-04-05 | MTBLS4137 | MetaboLights
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