HIGHLIGHTS
SUMMARY
Variants in IFT140 are implicated in the pathogenesis of CED and MZSDS, but also in JATD, Bardet-Biedl syndrome (BBS), Optiz trigonocephaly C syndrome (OTCS), and isolated retinitis pigmentosa (RP) displaying the complexity of ciliopathies (Cole and Snell, 2009; Schmidts et_al, 2013; Bifari et_al, 2016; Schaefer et_al, 2016; Pena-Padilla et_al, 2017). Dysfunctional IFT140 results in an accumulation of IFT proteins at the ciliary tip and in cilium shortening (Piperno et_al, 1998; Miller et_al, 2013). The cilium length was measured using the ALPACA tool, described in detail by Doornbos et_al, based on the length . . .
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