Publications:

Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.

Frontiers In Endocrinology

Shi, Wei-Hui WH; Zhou, Zhi-Yang ZY; Ye, Mu-Jin MJ; Qin, Ning-Xin NX; Jiang, Zi-Ru ZR; Zhou, Xuan-You XY; Xu, Nai-Xin NX; Cao, Xian-Lin XL; Chen, Song-Chang SC; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2023

Variant appearance in text: PKD1: 12712C>T; Gln4238Ter

PubMed Link: 37152951

Variant Present in the following documents:

• Main text
• fendo-14-1130536.pdf

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Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics

He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J

Publication Date: 2018-10-17

Variant appearance in text: PKD1: 12712C>T; Gln4238*

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One

Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K

Publication Date: 2016

Variant appearance in text: PKD1: 12712C>T; Q4238X

PubMed Link: 27835667

Variant Present in the following documents:

• Main text
• pone.0166288.s006.xls, sheet 1
• pone.0166288.pdf

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Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports

Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM

Publication Date: 2015-12-03

Variant appearance in text: PKD1: Gln4238Ter

PubMed Link: 26632257

Variant Present in the following documents:

• Main text
• srep17468.pdf

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