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UnknownRNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
Not available
S-EPMC8222830 | biostudies-literature
ProteomicsTau immunoprecipitation from human organoids
Immunoprecipitation was performed on two organoid lines. Eluted proteins were digested to peptides and analyzed by DIA mass spectrometry. A spectral library was generated from 16 samples. Label-free quantities in the 8 Tau-IP samples were compared between the two organoid lines.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-04-14 | MSV000091713 | MassIVE
ProteomicsTau immunoprecipitation from human neurons
Immunoprecipitation was performed on human neuron samples. Protein eluates were digested to peptides which were analyzed by DIA mass spectrometry. A spectral library was generated from all samples. Quantities in Tau-IP samples were compared to control-IP samples.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-04-14 | MSV000091714 | MassIVE
UnknownSomatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum Deformity.
Not available
S-EPMC11918561 | biostudies-literature
UnknownMoyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Not available
S-EPMC10047491 | biostudies-literature
TranscriptomicsFetal transcripts in maternal blood
The discovery of fetal mRNA transcripts in maternal circulation holds great promise for noninvasive prenatal diagnosis. To identify potential fetal biomarkers, we studied whole blood and plasma transcripts common to term pregnant women and their newborns but reduced or absent in the postpartum mothe...
ORGANISM(S): Homo sapiens 
2014-01-08 | E-GEOD-53669 | biostudies-arrayexpress
UnknownGenotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Not available
S-EPMC8070780 | biostudies-literature
ProteomicsAn Integrated Proteomic Portrait of Prostate Cancer Progression
Cancer forms a local tumor that subsequently metastasizes to distant organs. In prostate cancer, the latter part of the trajectory is influenced by the inhibition of the androgen receptor (AR). The study of proteomic changes along disease progression may reveal insights into how prostate cancer evol...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) Mus Musculus (ncbitaxon:10090) 
2024-10-30 | MSV000096252 | MassIVE
ProteomicsThe Pan-Human Library: A repository of assays to quantify 10 000 proteins by SWATH-MS
The â??Pan-Human Libraryâ?? is a compendium of highly specific assays covering more than 10 000 human proteins and enabling their targeted analysis in SWATH-MS datasets acquired from research or clinical specimens.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-03-16 | MSV000079593 | MassIVE
ProteomicsThe Pan-Human Library: A repository of assays to quantify 10 000 proteins by SWATH-MS / SWATH-MS validation data
The â??Pan-Human Libraryâ?? is a compendium of highly specific assays covering more than 10 000 human proteins and enabling their targeted analysis in SWATH-MS datasets acquired from research or clinical specimens. This dataset contains validation SWATH-MS data and OpenSWATH results of whole cell ly...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-03-16 | MSV000079592 | MassIVE
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