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two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene, are reported.
Kif7 may contribute to pathogenesis of gestational trophoblastic disease through enhancing survival and promoting dissemination of trophoblasts.
We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C).
results suggested that PPFIA1 (show PPFIA1 ELISA Kits) functioned with PP2A (show PPP2R4 ELISA Kits) to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli (show GLI1 ELISA Kits) transcriptional activity.
Studied the ExoS to identify unknown cellular targets associated with ExoS-induced cytotoxicity in a P. aeruginosa infection model.A pull-down assay revealed that ExoS bound the truncated KIF7 gene encoding the N-terminal domain (residues 1-109) of KIF7.
six novel mutations were identified at the KIF7 locus in five suspected Acrocallosal syndrome (show TXN ELISA Kits) cases
This study confirms that KIF7 mutations can cause acrocallosal syndrome (show TXN ELISA Kits).
report the first missense homozygous disease-causing mutation in KIF7 and expand the clinical spectrum associated with mutations in this gene to include multiple epiphyseal dysplasia
The high-resolution structure of the human KIF7 motor domain is reported and is compared with that of conventional kinesin, the founding member of the kinesin superfamily.
Data report mutations in the KIF7 gene, a known regulator of sonic hedgehog (show SHH ELISA Kits) signaling and a putative ciliary motor protein, in Joubert syndrome patients.
Mouse UBR3 poly-ubiquitinates Kif7, the mammalian homologue of Cos2. Finally, loss of UBR3 up-regulates Kif7 protein levels and decreases Hh signaling in cultured cells.
Our data suggest that Kif7 may function to regulate the maintenance of the respiratory airway architecture by controlling cellular density, cell proliferation, and cycle exit through its role as a microtubule associated protein (show SPAG5 ELISA Kits).
findings demonstrate that perturbations of Sufu (show SUFUH ELISA Kits) and Kif7 affect Gli (show GLI1 ELISA Kits) activity and recapitulate the full spectrum of vertebrate limb defects, ranging from severe truncation to polydactyly.
results suggested that PPFIA1 (show PPFIA1 ELISA Kits) functioned with PP2A to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli (show GLI1 ELISA Kits) transcriptional activity.
Kif7 localizes to the cilium tip, the site of microtubule plus ends, where it limits cilium length and controls cilium structure
Knockdown of Kif7, and retinoic acid receptors alpha (Rara (show RARA ELISA Kits)), beta (Rarb (show RARB ELISA Kits)), and gamma (Rarg (show RARG ELISA Kits)) indicated that RA signaling is dependent on these genes to promote tendonogenesis within the embryonic diaphragm.
Antagonistic and cooperative actions of Kif7 and Sufu (show SUFUH ELISA Kits) are responsible for setting up distinct Gli (show GLI1 ELISA Kits) activity in ventral cell fate specification.
These studies establish Sufu (show SUFUH ELISA Kits) and Kif7 as crucial components in the regulation of Gli2 (show GLI2 ELISA Kits) localization and activity, and illustrate their overlapping functions in skin development and tumor suppression.
Kif7 regulates the activity of Gli (show GLI1 ELISA Kits) transcription factors through both Sufu (show SUFUH ELISA Kits)-dependent and -independent mechanisms.
The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.
both osm-3/kif17 and cos2/kif7 have comparable outer segment developmental delays, although through independent mechanisms.
We show that Kif7 interacts with both Gli1 (show GLI1 ELISA Kits) and Gli2a and suggest that it functions to sequester Gli (show GLI1 ELISA Kits) proteins in the cytoplasm, in a manner analogous to the regulation of Ci by Cos2 in Drosophila
zebrafish Costal2 acts as an intracellular repressor of signal transduction
This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies.
kinesin family member 7
, kinesin-like protein KIF7
, kinesin 7
, kinesin-like protein costal2
, kinesin-like protein kif7