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CHEBI ID
CHEBI:15551
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CHEBI:15555
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CHEBI:15843
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CHEBI:16566
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(1)
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(1)
Study type
Transcription profiling by array
(19)
Methylation profiling by array
(6)
RNA-seq of non coding RNA
(4)
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(3)
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Lab affiliation
Biosciences Institute, Newcastle University, Newcastle, UK
(1)
Chair, Cancer Biology & Genetics Program, SKI; Chair, Geoffrey Beene Cancer Research Center; Investigator, Howard Hughes Medical Institute;
(1)
Department of Biochemistry, The University of Western Ontario, London, Ontario, Canada. 2 Bioinformatic Solutions Inc., Waterloo, Ontario, Canada. Department of Chemistry, The University of Western Ontario, London, Ontario, Canada.
(1)
Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne, UK.
(1)
Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee; Dow Street, Dundee DD1 5EH, U.K.
(1)
Translational Genomic Research Institute
(1)
University of Washington
(1)
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Revision of the genus-group
Hystricella
R. T. Lowe, 1855 from Porto Santo (Madeira Archipelago), with descriptions of new recent and fossil taxa (Gastropoda, Helicoidea, Geomitridae).
Not available
S-EPMC5799741
|
biostudies-literature
Cite
Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P
2
hydrolysis in the plasma membrane.
Not available
S-EPMC10279916
|
biostudies-literature
Cite
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Not available
S-EPMC4383555
|
biostudies-literature
Cite
BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins
BLUEPRINT DNA methylation profiles of monocytes, T cells and B cells in type 1 diabetes-discordant monozygotic twins
EGAS00001001598
|
EGA
Cite
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Not available
S-EPMC5793168
|
biostudies-literature
Cite
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Not available
S-EPMC8091038
|
biostudies-literature
Cite
Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.
Not available
S-EPMC12099292
|
biostudies-literature
Cite
CD2 molecules redistribute to the uropod during T cell scanning: implications for cellular activation and immune surveillance.
Not available
S-EPMC124291
|
biostudies-literature
Cite
Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.
Not available
S-EPMC5103007
|
biostudies-literature
Cite
Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.
Not available
S-EPMC6732312
|
biostudies-literature
Cite
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