日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis

麻省总医院布里格姆生物样本库的肾病综合征基因组学发现表明,单等位基因MEFV变异是局灶节段性肾小球硬化症的风险因素。

Wongboonsin, Janewit; Gibson, Kristen M; Ke, Juntao; Sentell, Zachary T; Arcila-Galvis, Juliana E; Koyama, Satoshi; Greenberg, Anya; Reynolds, Kaylia M; Montini, Giovanni; Magistroni, Riccardo; Mitrotti, Adele; Gesualdo, Loreto; Pezzuto, Alessandro; Peruzzi, Licia; Caliskan, Yasar; Onuchic-Whitford, Ana C; Bunlungsup, Srichan; McNulty, Michelle; Gbadegesin, Rasheed; Saleem, Moin A; Pollak, Martin R; Hildebrandt, Friedhelm; Natarajan, Pradeep; Lee, Dongwon; Nigwekar, Sagar U; Sayer, John A; Sanna-Cherchi, Simone; Sampson, Matthew G

Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant

利用p.N264K M1保护性变异进行APOL1肾病精准诊断

Martinelli, Elena; Ke, Juntao; Khan, Atlas; Wongboonsin, Janewit; Vanderwall, David R; Lim, Tze Y; Santoriello, Dominick; Gupta, Yask; McNulty, Michelle T; Koyama, Satoshi; Puntambekar, Sidhant; Bomback, Andrew S; Canetta, Pietro; Kretzler, Matthias; Montini, Giovanni; Morello, William; Maggiore, Umberto; Fiaccadori, Enrico; Gesualdo, Loreto; Ghiggeri, Gian Marco; Oliveira, Eduardo Araújo; Simoes E Silva, Ana Cristina; Bendapudi, Pavan K; Motelow, Joshua; Garcia, Christine K; Paul, Dirk S; Petrovski, Slavé; Goldstein, David B; Friedman, David J; Radhakrishnan, Jai; Lin, Fangming; Mohan, Sumit; Appel, Gerald B; Saleem, Moin A; Natarajan, Pradeep; Hildebrandt, Friedhelm; Westland, Rik; D'Agati, Vivette D; Gbadegesin, Rasheed; Gharavi, Ali G; Pollak, Martin R; Kiryluk, Krzysztof; Sampson, Matthew G; Sanna-Cherchi, Simone

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因。

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes

作者更正:外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease

利用大型基因组生物样本库深入了解遗传性肾脏疾病

Chang, Alexander R; Wongboonsin, Janewit; Mallett, Andrew J; Morales, Ana; Retterer, Kyle; Mirshahi, Tooraj; Sayer, John A

A Randomized Control Trial of Ravulizumab for Treatment of Patients With COVID-19 Infection and Kidney Injury

一项关于拉武利珠单抗治疗COVID-19感染合并肾损伤患者的随机对照试验

Memon, Aliza A; Ahmed, Hasban; Li, Yi; Wongboonsin, Janewit; Hundert, Joshua; Benoit, Stefanie; Chaudhari, Advika; Sher, Jawad; Ghimire, Pratima; Hopkins, Rebecca; Patel, Jay; Stegman, Melinda; Lim, Kenneth; Azzi, Jamil; Siedlecki, Andrew M

Osmotic Tubulopathy in a Patient With COVID-19 Treated With Remdesivir

接受瑞德西韦治疗的 COVID-19 患者出现渗透性肾小管病

Wongboonsin, Janewit; Shah, Sujal I; Marty, Francisco M; Mount, David B; Rennke, Helmut G; Murakami, Naoka

Infectious Pneumorachis Due to Clostridium septicum

由败血梭菌引起的传染性气管炎

Wongboonsin, Janewit; Duran, Alisa; Johnson, James R

Acetazolamide Therapy in Patients with Heart Failure: A Meta-Analysis

乙酰唑胺治疗心力衰竭患者:一项荟萃分析

Wongboonsin, Janewit; Thongprayoon, Charat; Bathini, Tarun; Ungprasert, Patompong; Aeddula, Narothama Reddy; Mao, Michael A; Cheungpasitporn, Wisit

Gli1+ Mesenchymal Stromal Cells Are a Key Driver of Bone Marrow Fibrosis and an Important Cellular Therapeutic Target

Gli1+间充质基质细胞是骨髓纤维化的关键驱动因素,也是重要的细胞治疗靶点。

Rebekka K Schneider ,Ann Mullally ,Aurelien Dugourd ,Fabian Peisker ,Remco Hoogenboezem ,Paulina M H Van Strien ,Eric M Bindels ,Dirk Heckl ,Guntram Büsche ,David Fleck ,Gerhard Müller-Newen ,Janewit Wongboonsin ,Monica Ventura Ferreira ,Victor G Puelles ,Julio Saez-Rodriguez ,Benjamin L Ebert ,Benjamin D Humphreys ,Rafael Kramann