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GenomicsExome sequencing of autosomal recessive progressive external ophthalmoplegia (arPEO)

Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO). AdPEO is a genetically heterogeneous disease and several genes including POLG1 and C10orf2/Twinkle have been id...

phs000392.v1.p1 | EGA
UnknownAssociation and synergistic interaction between promoter variants of the DRD4 gene in Japanese schizophrenics.
Not available
S-EPMC1705471 | biostudies-literature
TranscriptomicsAffymetrix SNP array data for Japanese schizophrenia samples
Genome-wide association study (GWAS) was performed in 120 patient-parents trio samples from Japanese schizophrenia pedigrees ABSTRACT: Schizophrenia is a devastating neuropsychiatric disorder with genetically complex traits. Genetic variants should explain a considerable portion of the risk for sch...
ORGANISM(S): Homo sapiens 
2011-06-13 | E-GEOD-27923 | biostudies-arrayexpress
UnknownFunctional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies.
Not available
S-EPMC4240203 | biostudies-literature
ProteomicsMature proteins of LAG-3 with or without mutations were digested with chymotrypsin followed by data-dependent LC-MS/MS analysis
The FLAG-tagged soluble monomeric proteins of LAG-3-WT, LAG-3-V20A, and LAG-3-L14Q/V20A were immunoprecipitated from culture supernatants of Plat-E cells transfected with the corresponding plasmid vectors using ANTI-FLAG M2 Magnetic Beads. Proteins on the beads were digested with chymotrypsin (Roche...
ORGANISM(S): Homo Sapiens (human) 
2022-04-11 | PXD023929 | JPOST Repository
ProteomicsN-terminal peptides of LAG-3 (WT, V20A, and L14Q/V20A) were quantified by PRM
The abundance of N-terminal fragments starting from V21 (pV21–W33), S22 (pS22–W33), S23 (pS23–W33), and G24 (pG24–W33) along with three control peptides (Ctrl1, pH81–Y95; Ctrl2, pR106–L118; Ctrl3, pH113–L123) were measured by parallel reaction monitoring (PRM), an MS/MS-based targeted quantification...
ORGANISM(S): Homo Sapiens (human) 
2022-04-11 | PXD023930 | JPOST Repository
UnknownDifferent solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment.
Not available
S-EPMC10449817 | biostudies-literature
ProteomicsAGE-modification sites of human CRMP2 in vitro
AGE-modification sites of human recombinant CRMP2 (1-532) in vitro under enhanced carbonyl stress
ORGANISM(S): Homo Sapiens (human) 
2019-10-01 | PXD013522 | JPOST Repository
ProteomicsAGE-modification sites of human CRMP2 in GLO1 -/- iPS cells
AGE-modification sites of human CRMP2 in GLO1 -/- iPS cells under enhanced carbonyl stress.
ORGANISM(S): Homo Sapiens (human) 
2019-10-01 | PXD013524 | JPOST Repository
UnknownCFH and VIPR2 as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy.
Not available
S-EPMC6004488 | biostudies-literature
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