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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Archive ouverte | Grampa, Valentina | CCSD

International audience. Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathway...

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of NPHP1 ciliopathy-gene transcripts

Archive ouverte | Mahuzier, Alexia | CCSD

Ciliopathies are a class of multi-systemic genetic diseases characterized by ciliary dysfunction. Here, we report a novel ANKS3 variant in patients with a renal ciliopathy known as nephronophthisis (NPH) associated with hepatic de...

Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity

Archive ouverte | Schneider-Maunoury, Sylvie | CCSD

International audience

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