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GenomicsBest practices for eCLIP experiments and analysis [uncertain quality]
Best practices for eCLIP experiments and analysis [uncertain quality]
PRJNA421346 | ENA
TranscriptomicsA microRNA network regulates expression and biosynthesis of CFTR and CFTR-M-NM-^TF508.
Production of functional proteins requires multiple steps including gene transcription and post-translational processing. MicroRNAs (miRNA) can regulate individual stages of these processes. Despite the importance of the cystic fibrosis transmembrane conductance regulator (CFTR) channel for epithe...
ORGANISM(S): Homo sapiens 
2012-09-04 | E-GEOD-38956 | biostudies-arrayexpress
ProteomicsFunctional Classification of DDOST Variants of Uncertain Clinical Significance in Congenital Disorders of Glycosylation
identification of OST48 as a transient inetactor of lysyl oxidase (LOX)OST48 is a non catalytic component of the OST complex which transfers glycans to substrate proteins. OST48 is encoded by DDOST.43 cariants of DDOST are described in CDG patients
ORGANISM(S): Homo sapiens (Human) 
2023-10-18 | PXD042959 | Pride
Congeniatal disorders of glycosylation Lysl oxidase Functional assay Apex2 proximity labelling 
UnknownTTN truncation variants produce sarcomere-integrating proteins of uncertain functional significance.
Not available
S-EPMC10786689 | biostudies-literature
TranscriptomicsTranscriptome analysis reveals molecular profiles associated with evolving steps of monoclonal gammopathies
To gain further insights into the role of the transcriptome deregulation in the transition from a normal plasma cell (NPC) to a clonal PC and from an indolent clonal PC to a malignant PC, we performed gene expression profiling in 20 patients with MGUS, 33 with high-risk SMM and 41 with MM. The analy...
ORGANISM(S): Homo sapiens 
2014-05-22 | E-GEOD-47552 | biostudies-arrayexpress
ProteomicsChr18 Consortium MS-data for missing proteins mining
Despite direct or indirect efforts of proteomic community, the fraction of blind spots on the protein map is still significant. Almost 10% (?) of human master protein has no experimental validation up to now. Apparently, proteomics has reached the stage where all easy scores are achieved (?), and ev...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-11-11 | MSV000086439 | MassIVE
UnknownThere will always be variants of uncertain significance. Analysis of VUSs.
Not available
S-EPMC11616676 | biostudies-literature
GenomicsMultiplex, multimodal mapping of variant functional effects in secreted proteins
Multiplex, multimodal mapping of variant functional effects in secreted proteins
PRJNA1014772 | ENA
UnknownFunctional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Not available
S-EPMC10582084 | biostudies-literature
UnknownFunctional assays in <i>Drosophila</i> facilitate classification of variants of uncertain significance associated with rare diseases.
Not available
S-EPMC12212082 | biostudies-literature
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