Search Results - "Mok, Calvin A"
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Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans
Published in PLoS genetics (01-10-2011)“…Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome…”
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An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes
Published in PLoS genetics (01-03-2008)“…MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1),…”
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MIP-MAP: High-Throughput Mapping of Caenorhabditis elegans Temperature-Sensitive Mutants via Molecular Inversion Probes
Published in Genetics (Austin) (01-10-2017)“…Mutants remain a powerful means for dissecting gene function in model organisms such as Massively parallel sequencing has simplified the detection of variants…”
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BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population
Published in Human mutation (01-07-2009)“…Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were…”
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Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome-Associated Phenotypes in Caenorhabditis elegans: e1002335
Published in PLoS genetics (01-10-2011)“…Ciliopathies are pleiotropic and genetically heterogeneous disorders caused by defective development and function of the primary cilium. Bardet-Biedl syndrome…”
Get full text
Journal Article -
7
An Essential Role for DYF-11/MIP-T3 in Assembling Functional Intraflagellar Transport Complexes: e1000044
Published in PLoS genetics (01-03-2008)“…MIP-T3 is a human protein found previously to associate with microtubules and the kinesin-interacting neuronal protein DISC1 (Disrupted-in-Schizophrenia 1),…”
Get full text
Journal Article