Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

doi:10.1016/j.ajhg.2020.04.010

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Article

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

American journal of human genetics - 4 Jun 2020

Le Thuy-Linh, Sribudiani Yunia, Dong Xiaomin, Huber Céline, Kois Chelsea, Baujat Geneviève, Gordon Christopher T, Mayne Valerie, Galmiche Louise, Serre Valérie, Goudin Nicolas, Zarhrate Mohammed, Bole-Feysot Christine, Masson Cécile, Nitschké Patrick, Verheijen Frans W, Pais Lynn, Pelet Anna, Sadedin Simon, Pugh John A, Shur Natasha, White Susan M, El Chehadeh Salima, Christodoulou John, Cormier-Daire Valérie, Hofstra R M W, Lyonnet Stanislas, Tan Tiong Yang, Attié-Bitach Tania, Kerstjens-Frederikse Wilhelmina S, Amiel Jeanne, Thomas Sophie

Abstract excerpt

The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cilium (PC) where major pathway components are dynamically enriched. These factors include smoothened (SMO) and patched, which constitute the core reception system for...

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PMID: 32413283
DOI: 10.1016/j.ajhg.2020.04.010
PMCID: PMC7273534

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