Article

The Joubert gene <i>TMEM67</i> is required for the correct establishment of spinal dorsal identities in human organoids

2026-01-20

Abstract excerpt

Primary cilia are essential signaling organelles that mediate key developmental pathways, including Sonic Hedgehog (SHH) and WNT, and are crucial for tissue patterning and homeostasis. Ciliary dysfunction underlies a spectrum of human ciliopathies—such as Joubert syndrome (JBTS) and Meckel syndrome (MKS)—which present with profound neurodevelopmental abnormalities. Although the role of cilia in SHH-dependent ventr...

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Literature Corpus work: 20310177-300f-536e-b75f-1e1bff66c234
DOI: 10.64898/2026.01.20.700675

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