IFT140-related ADPKD

doi:10.1016/j.ekir.2024.12.008

2025-02-01

PRE

Martina Catania *

Giulia Mancassola

Liliana Italia De Rosa

Maria Teresa Sciarrone Alibrandi

DOI：10.1016/j.ekir.2024.12.008

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摘要

期刊

Kidney International Reports

IF:

5.7

论文数:

3.7K

被引数:

7.3K

机构

IRCCS Ospedale San Raffaele

学者数:

1.4W

论文数: 1.0W

被引数: 6.0K

Vita-Salute San Raffaele University

学者数:

2.7W

论文数: 1.6W

被引数: 1.4W

引用论文

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History IFT140在无家族史的多囊肾患者中的重要性

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IF5.7

2024-09-01

OAAI

Fujimaru, Takuya; Mori, Takayasu; Sekine, Akinari; Chiga, Motoko; Mandai, Shintaro; Kikuchi, Hiroaki; Mori, Yutaro; Hara, Yu; Fujiki, Tamami; Ando, Fumiaki; Susa, Koichiro; Iimori, Soichiro; Naito, Shotaro; Hanazawa, Ryoichi; Hirakawa, Akihiro; Mochizuki, Toshio; Suwabe, Tatsuya; Ubara, Yoshifumi; Uchida, Shinichi; Sohara, Eisei

Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype 单等位基因致病性IFT140变异是常染色体显性多囊肾病谱系表型的常见原因

CLINICAL KIDNEY JOURNAL

IF4.6

2024-02-15

OAAI

Dordoni, Chiara; Zeni, Letizia; Toso, Diego; Mazza, Cinzia; Mescia, Federica; Cortinovis, Roberta; Econimo, Laura; Savoldi, Gianfranco; Alberici, Federico; Scolari, Francesco; Izzi, Claudia

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IF55

2022-12-27

OAAI

Chang, Alexander R.; Moore, Bryn S.; Luo, Jonathan Z.; Sartori, Gino; Fang, Brian; Jacobs, Steven; Abdalla, Yoosif; Taher, Mohammed; Carey, David J.; Triffo, William J.; Singh, Gurmukteshwar; Mirshahi, Tooraj

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype 单等位基因IFT140致病变异是常染色体显性多囊肾谱系表型的重要原因

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-01-01

OAAI

Senum, Sarah R.; Li, Ying (Sabrina) M.; Benson, Katherine A.; Joli, Giancarlo; Olinger, Eric; Lavu, Sravanthi; Madsen, Charles D.; V. Gregory, Adriana; Neatu, Ruxandra; Kline, Timothy L.; Audrezet, Marie -Pierre; Outeda, Patricia; Nau, Cherie B.; Meijer, Esther; Ali, Hamad; Steinman, Theodore I.; Mrug, Michal; Phelan, Paul J.; Watnick, Terry J.; Peters, Dorien J. M.; Ong, Albert C. M.; Conlon, Peter J.; Perrone, Ronald D.; Cornec-Le Gall, Emilie; Hogan, Marie C.; Torres, Vicente E.; Saver, John A.; Harris, Peter C.