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UnknownGenetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Not available
S-EPMC9274454 | biostudies-literature
UnknownNovel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Not available
S-EPMC5686170 | biostudies-literature
GenomicsKIAA0753 human fibroblasts treated with control media, Smoothened Agonist (SAG) or WNT3A
KIAA0753 human fibroblasts treated with control media, Smoothened Agonist (SAG) or WNT3A
PRJNA755674 | ENA
TranscriptomicsKIAA0753 human fibroblasts treated with control media, Smoothened Agonist (SAG) or WNT3A
Human fibroblasts from a control or a patient with compound heterozygous variants in KIAA0753 treated with SAG or WNT3A to test responses within canonical Hedgehog or WNT signaling.
ORGANISM(S): Homo sapiens 
2021-08-24 | GSE182286 | GEO
UnknownMutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Not available
S-EPMC5395200 | biostudies-literature
UnknownCEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Not available
S-EPMC8559671 | biostudies-literature
UnknownProximity interactions among centrosome components identify regulators of centriole duplication.
Not available
S-EPMC4004176 | biostudies-literature
UnknownHigh diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Not available
S-EPMC8472897 | biostudies-literature
UnknownFifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Not available
S-EPMC5557276 | biostudies-literature
UnknownMolecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Not available
S-EPMC11528337 | biostudies-literature
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