A common intronic single nucleotide variant modifies <scp> <i>PKD1</i> </scp> expression level-Reference-Cited by-同舟云学术

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A common intronic single nucleotide variant modifies PKD1 expression level

Published:2022-09-14 Issue:6 Volume:102 Page:483-493
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Zhang Zhengmao¹,Blumenfeld Jon²³,Ramnauth Andrew¹,Barash Irina²³,Zhou Pengbo¹,Levine Daniel³⁴,Parker Thomas³⁴,Rennert Hanna¹

Affiliation:

1. Departments of Pathology and Laboratory Medicine Weill Cornell Medicine New York New York USA

2. Department of Medicine Weill Cornell Medicine New York New York USA

3. The Rogosin Institute New York New York USA

4. Department of Biochemistry Weill Cornell Medicine New York New York USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14214

Reference52 articles.

1. Kidney: polycystic kidney disease

2. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

3. Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

4. Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

5. Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease

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1. Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;Molecular Therapy - Nucleic Acids;2024-03

2. RegulatingPCCAgene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;2023-07-05

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