SPECC1L regulates palate development downstream of IRF6.

doi:10.1093/hmg/ddaa002

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Article

SPECC1L regulates palate development downstream of IRF6.

Human molecular genetics - 27 Mar 2020

Hall Everett G, Wenger Luke W, Wilson Nathan R, Undurty-Akella Sraavya S, Standley Jennifer, Augustine-Akpan Eno-Abasi, Kousa Youssef A, Acevedo Diana S, Goering Jeremy P, Pitstick Lenore, Natsume Nagato, Paroya Shahnawaz M, Busch Tamara D, Ito Masaaki, Mori Akihiro, Imura Hideto, Schultz-Rogers Laura E, Klee Eric W, Babovic-Vuksanovic Dusica, Kroc Sarah A, Adeyemo Wasiu L, Eshete Mekonen A, Bjork Bryan C, Suzuki Satoshi, Murray Jeffrey C, Schutte Brian C, Butali Azeez, Saadi Irfan

Abstract excerpt

SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P). These mutations cluster in the second coiled-coil and calponin homology domains of SPECC1L and severely affect the ability of SPECC1L to associate with microtubules. We previously showed that gene-trap knockout of Specc1l in mouse results in early embryonic lethality. We now...

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Identifiers

PMID: 31943082
DOI: 10.1093/hmg/ddaa002
PMCID: PMC7104672

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SPECC1L regulates palate development downstream of IRF6.PMID 31943082Read ↗

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