Publications:

Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.

Physiological Reports

Bissonnette, Pierre P; Lussier, Yoann Y; Matar, Jessica J; Leduc-Nadeau, Alexandre A; Da Cal, Sandra S; Arthus, Marie-Françoise MF; Unwin, Robert J RJ; Steinke, Julia J; Rangaswamy, Dharshan D; Bichet, Daniel G DG

Publication Date: 2021-06

Variant appearance in text: AQP2: H201Y

PubMed Link: 34120413

Variant Present in the following documents:

• PHY2-9-e14866.pdf

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Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Frontiers In Pediatrics

Liao, Panli P; Xiang, Tianchao T; Li, Hongxia H; Fang, Ye Y; Fang, Xiaoyan X; Zhang, Zhiqing Z; Cao, Qi Q; Zhai, Yihui Y; Chen, Jing J; Xu, Linan L; Liu, Jialu J; Tang, Xiaoshan X; Liu, Xiaorong X; Wang, Xiaowen X; Luan, Jiangwei J; Shen, Qian Q; Chen, Lizhi L; Jiang, Xiaoyun X; Ma, Duan D; Xu, Hong H; Rao, Jia J

Publication Date: 2021

Variant appearance in text: AQP2: His201Tyr

PubMed Link: 33996673

Variant Present in the following documents:

• Data_Sheet_1.pdf

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AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Cells

Gao, Chao C; Higgins, Paul J PJ; Zhang, Wenzheng W

Publication Date: 2020-09-26

Variant appearance in text: AQP2: H201Y

PubMed Link: 32993088

Variant Present in the following documents:

• Main text
• cells-09-02172.pdf

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus.

Clinics (Sao Paulo, Brazil)

Liberatore Junior, Raphael D RD; Carneiro, Juliana G JG; Leidenz, Franciele B FB; Melilo-Carolino, Rachel R; Sarubi, Helena C HC; De Marco, Luiz L

Publication Date: 2012

Variant appearance in text: AQP2: 601C>T; H201Y

PubMed Link: 22249485

Variant Present in the following documents:

• Main text
• cln-67-01-79.pdf

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