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ProteomicsHuman CCDC114-mutant patient derived air-liquid interface (ALI) organoids proteome
In this experiment we investigate the different expressed proteins between healthy control ALI organoids and CCDC114-mutant ALI organoids.
ORGANISM(S): Homo sapiens (Human) 
2026-04-06 | PXD064456 | Pride
Human Organoids Airway Ccdc114 
UnknownExome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
Not available
S-EPMC3542458 | biostudies-literature
UnknownIdentification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
Not available
S-EPMC7444340 | biostudies-literature
UnknownSplice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
Not available
S-EPMC3542455 | biostudies-literature
UnknownPrimary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Not available
S-EPMC9314105 | biostudies-literature
UnknownCarrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
Not available
S-EPMC4367086 | biostudies-literature
UnknownTTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
Not available
S-EPMC4974089 | biostudies-literature
UnknownCCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Not available
S-EPMC4157146 | biostudies-literature
UnknownExpression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
Not available
S-EPMC8835943 | biostudies-literature
UnknownGenetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.
Not available
S-EPMC7934102 | biostudies-literature
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