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ProteomicsAnalysis of impact of clinical mutations in WDR34 by GFP-trap proteomics.
The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium lead to ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as t...
ORGANISM(S): Homo sapiens (Human) 
2022-09-06 | PXD032758 | Pride
Human Cilia Wdr34 Ciliopathy Epithelial cells Dynein-2 
GenomicsEffect of WDR34 and WDR60 loss of function on the transcriptome in IMCD3 cells
Effect of WDR34 and WDR60 loss of function on the transcriptome in IMCD3 cells
PRJNA860650 | ENA
UnknownWDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways.
Not available
S-EPMC7527273 | biostudies-literature
TranscriptomicsEffect of WDR34 and WDR60 loss of function on the transcriptome in IMCD3 cells
Wdr34 and Wdr60 human disease causing missense alleles are responsible for ciliary chondrodysplasias including Jeune Syndrome. Resulting donwstream cell signallling effects and effect on gene expression are unknown.
ORGANISM(S): Mus musculus 
2026-06-15 | GSE208712 | GEO
UnknownWDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Not available
S-EPMC8049445 | biostudies-literature
ProteomicsDisease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2
The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium lead to ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as t...
ORGANISM(S): Homo sapiens (Human) 
2024-04-15 | PXD046827 | Pride
Human Cilia Dynein-2 
UnknownMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Not available
S-EPMC3824113 | biostudies-literature
ProteomicsAnalysis of interactions with truncated cytoplasmic dynein-2 intermediate chain WDR34-Q158*
Analysis of proteins interactiong with the trucated form of the cytoplasmic dynein-2 intermediate chain WDR34-Q158* using GFP-trap
ORGANISM(S): Homo sapiens (Human) 
2022-09-06 | PXD025686 | Pride
Human 
ProteomicsProtein interactions with HA-tagged cytoplasmic dynein-2 DATASET1
To identify those proteins interacting with the cytoplasmic dynein-2 using mammalian cell lines stably expressing HA-tagged intermediate chain subunits, WDR34 (DYNC2I2) or WDR60 (DYNC2I1).
ORGANISM(S): Homo sapiens (Human) 
2023-01-24 | PXD031151 | Pride
Dynein-2 Cilia Intraflagellar transport 
ProteomicsProtein interactions with HA-tagged cytoplasmic dynein-2 DATASET2
To identify those proteins interacting with the cytoplasmic dynein-2 using mammalian cell lines stably expressing HA-tagged intermediate chain subunits, WDR34 (DYNC2I2) or WDR60 (DYNC2I1).
ORGANISM(S): Homo sapiens (Human) 
2023-01-24 | PXD031153 | Pride
Dynein-2 Cilia Intraflagellar transport 
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