The <i>RSPH4A</i> Gene in Primary Ciliary Dyskinesia
The radial spoke head protein 4 homolog A (<i>RSPH4A</i>) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the <i>RSPH4A</i> gene alter an important protein structure involved in ciliary pathogenesi...
Main Authors: | Wilfredo De Jesús-Rojas, Jesús Meléndez-Montañez, José Muñiz-Hernández, André Marra-Nazario, Francisco Alvarado-Huerta, Arnaldo Santos-López, Marcos J. Ramos-Benitez, Ricardo A. Mosquera |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-01-01
|
Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/24/3/1936 |
Similar Items
-
Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican <i>RSPH4A</i> Founder Mutation
by: Wilfredo De Jesús-Rojas, et al.
Published: (2021-02-01) -
The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
by: Wilfredo De Jesús-Rojas, et al.
Published: (2022-05-01) -
Mapping the Most Common Founder Variant in <i>RSPH9</i> That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
by: Dalal A. Al-Mutairi, et al.
Published: (2023-10-01) -
Ciliary Feature Counter: A program for the Quantitative Assessment of Cilia to Diagnose Primary Ciliary Dyskinesia
by: Andreia L. Pinto, et al.
Published: (2020-07-01) -
Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study
by: Ali Alsuheel Asseri, et al.
Published: (2023-10-01)