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Article

Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.

Biochemical and biophysical research communications - 30 Apr 2018

Matsumoto Naoto, Kaneko Minami, Watanabe Natsumi, Itaoka Misa, Seki Yoich, Morimoto Takako, Torii Tomohiro, Miyamoto Yuki, Keiichi Homma, Yamauchi Junji

Abstract excerpt

Treacher Collins syndrome (TCS) is a craniofacial developmental disorder whose key feature is a combination of symptoms. For example, a patient could have bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, and atresia of the external auditory canals. TCS3 is caused by mutations of the polr1c gene,...

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Identifiers

PMID: 29567474
DOI: 10.1016/j.bbrc.2018.03.136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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