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inconsistent expression levels of human CDV-1 and mouse Cdv-1 in heart implied that cardiac hypertrophy in human SCD might not be associated with the abnormal expression of CDV-1.
Cdv-1R might be involved in the carnitine pathway in the epididimis
Our data highlights the importance of detection and careful characterization of intragenic duplication CNVs, presenting them as a novel and very rare genetic mechanism in IFT81-related Jeune syndrome and MATN3-related MED.
This represents the first report of mutations in IFT81 as a candidate gene for nonsyndromic retinal dystrophy, hence expanding the phenotype spectrum of IFT-B components.
this study found that the two core intraflagellar transport proteins IFT74 and IFT81 form a tubulin-binding module and mapped the interaction to a calponin homology domain of IFT81 and a highly basic domain in IFT74.
inconsistent expression levels of human CDV-1 and mouse Cdv-1 in heart implied that cardiac hypertrophy in human SCD might not be associated with the abnormal expression of CDV-1
mouse homolog is a downregulated gene in the hypertrophied ventricle of carnitine-deficient juvenile visceral steatosis mice
carnitine deficiency-associated gene expressed in ventricle 1
, carnitine deficiency-associated protein expressed in ventricle 1
, intraflagellar transport 81 homolog
, intraflagellar transport protein 81 homolog