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TranscriptomicsTranscriptome analysis of pancreatic progenitors differentiated from H9 human embryonic stem cells and induced pluripotent stem cells derived from a Mitchell-Riley Syndrome patient
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 
2020-03-30 | E-MTAB-6626 | biostudies-arrayexpress
MetabolomicsAnalysis of sex-specific lipid metabolism of Plasmodium falciparum points to the importance of sphingomyelin for gametocytogenesis
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
TranscriptomicsExpression data from Xenopus anterior gut RFX6 knockdown
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 
2011-01-24 | E-GEOD-23642 | biostudies-arrayexpress
ProteomicsUbiquitination of a small molecule
Ubiquitin is a small, highly conserved protein that acts as a post-translational modification in eukaryotes. Ubiquitination of proteins frequently serves as a degradation signal, marking them for disposal by the proteasomal. Here, we report a novel small molecule from a diversity- oriented synthesis...
ORGANISM(S): Homo sapiens (Human) 
2025-09-11 | PXD065168 | Pride
Proteomics Degradation Ubiquitin 
TranscriptomicsTranscriptome analysis of pancreatic endoderm differentiated from induced pluripotent stem cells derived from a patient with Mitchell-Riley Syndrome and her unaffected father
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 
2020-10-23 | E-MTAB-9243 | biostudies-arrayexpress
TranscriptomicsMetformin mild supplementation improves health and survival of mice
Metformin, a commonly used drug prescribed to treat type-2 diabetes, has been found to extend health span and delay cancer incidence and progression. Here, we report that starting chronic treatment with low dose of metformin (0.1% w/w in diet) at one year of age extends health and lifespan in male m...
ORGANISM(S): Mus musculus 
2013-07-31 | E-GEOD-40936 | biostudies-arrayexpress
UnknownThe toxic effects of chloroquine and hydroxychloroquine on skeletal muscle: a systematic review and meta-analysis.
Not available
S-EPMC7988151 | biostudies-literature
UnknownThe skeletal muscles of mice infected with Plasmodium berghei and Plasmodium chabaudi reveal a crosstalk between lipid mediators and gene expression.
Not available
S-EPMC7362477 | biostudies-literature
UnknownPhase I/II, open-label trial of safety and immunogenicity of meningococcal (groups A, C, Y, and W-135) polysaccharide diphtheria toxoid conjugate vaccine in human immunodeficiency virus-infected adolescents.
Not available
S-EPMC2868314 | biostudies-literature
UnknownMitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Not available
S-EPMC9257252 | biostudies-literature
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