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Article

The RSPH4A Gene in Primary Ciliary Dyskinesia.

International journal of molecular sciences - 18 Jan 2023

De Jesús-Rojas Wilfredo, Meléndez-Montañez Jesús, Muñiz-Hernández José, Marra-Nazario André, Alvarado-Huerta Francisco, Santos-López Arnaldo, Ramos-Benitez Marcos J, Mosquera Ricardo A

Abstract excerpt

The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the RSPH4A gene alter an important protein structure involved in ciliary pathogenesis. Radial spoke proteins, such as RSPH4A, have been conserved across multiple species. In humans, ciliary function deficiency caused by RSPH4A pathogenic...

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PMID: 36768259
DOI: 10.3390/ijms24031936
PMCID: PMC9915723

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