Publications:

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PKD1: S2235L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine

Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T

Publication Date: 2020-01-05

Variant appearance in text: PKD1: 6704C>T; Ser2235Leu

PubMed Link: 31948117

Variant Present in the following documents:

• jcm-09-00146-s001.pdf

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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports

Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C

Publication Date: 2019-11-18

Variant appearance in text: PKD1: 6704C>T; Ser2235Leu

PubMed Link: 31740684

Variant Present in the following documents:

• 41598_2019_52474_MOESM1_ESM.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: 6704C>T; Ser2235Leu

PubMed Link: 30333007

Variant Present in the following documents:

• Main text
• 12881_2018_Article_693.pdf

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Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.

Scientific Reports

Ameku, Tomonaga T; Taura, Daisuke D; Sone, Masakatsu M; Numata, Tomohiro T; Nakamura, Masahiro M; Shiota, Fumihiko F; Toyoda, Taro T; Matsui, Satoshi S; Araoka, Toshikazu T; Yasuno, Tetsuhiko T; Mae, Shin-Ichi S; Kobayashi, Hatasu H; Kondo, Naoya N; Kitaoka, Fumiyo F; Amano, Naoki N; Arai, Sayaka S; Ichisaka, Tomoko T; Matsuura, Norio N; Inoue, Sumiko S; Yamamoto, Takuya T; Takahashi, Kazutoshi K; Asaka, Isao I; Yamada, Yasuhiro Y; Ubara, Yoshifumi Y; Muso, Eri E; Fukatsu, Atsushi A; Watanabe, Akira A; Sato, Yasunori Y; Nakahata, Tatsutoshi T; Mori, Yasuo Y; Koizumi, Akio A; Nakao, Kazuwa K; Yamanaka, Shinya S; Osafune, Kenji K

Publication Date: 2016-07-15

Variant appearance in text: PKD1: S2235L

PubMed Link: 27418197

Variant Present in the following documents:

• Main text
• srep30013.pdf

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