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Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions

Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in exons 8 to 24, result in Lowe syndrome. Recen...

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Autors principals: Rini Rossanti, Eri Okada, Nana Sakakibara, Ryota Suzuki, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2025-05-01
Col·lecció:Kidney International Reports
Matèries:
Dent disease-2
isoform
Lowe syndrome
minigene system
OCRL
Splicing
Accés en línia:http://www.sciencedirect.com/science/article/pii/S2468024925001135
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