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ATP-binding cassette (ABC) transporters serve a variety of physiological functions as well as play key roles in drug resistance. The genome of the human malaria parasite, Plasmodium falciparum, encodes multiple members of this family, one of which, gABCG2, is transcribed predominantly in the gametoc...
2016-09-14 | MTBLS98 | MetaboLights
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 
Resistance to endocrine treatments and CDK4/6 inhibitors is considered a near-inevitability in most patients with estrogen receptor positive breast cancers (ER + BC). By genomic and metabolomics analyses of patients' tumours, metastasis-derived patient-derived xenografts (PDX) and isogenic cell line...
2023-06-27 | MTBLS3342 | MetaboLights
Here we report the design, construction and characterization of a 770 Kb synthetic yeast chromosome II (synII). With the UPLC-MS method, we demonstrated synII maintains a nearly wild-type phenotype and fitness despite hundreds of designer editing to it. Our phenomics, transcriptomics, proteomics dat...
2016-10-13 | MTBLS296 | MetaboLights
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 
Petunia x hybrida strain:Mitchell Diploid Transcriptome or Gene expression
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
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 
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
Transcriptome analysis of pancreatic endoderm differentiated from induced pluripotent stem cells derived from a patient with Mitchell-Riley Syndrome and her unaffected father
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