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

Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome

多基因风险评分和HLA II类变异是儿童肾病综合征中皮质类固醇反应的生物标志物。

Tu, Tiffany; Ochoa, Alejandro; Sood, Amika; Dabrik, Ashley; Chryst-Stangl, Megan; Lane, Brandon; Wu, Guanghong; Donovan, Frank; Harper, Ursula; Chandrasekharappa, Settara; Esezobor, Christopher; Solarin, Adaobi; Hooper, David; Sethna, Christine; Amaral, Sandra; Kallash, Mahmoud; Rheault, Michelle; Verghese, Priya; Dharnidharka, Vikas; Salmon, Eloise; Weng, Patricia; Srivastava, Tarak; Seifert, Michael E; Pruette, Cozumel; Selewski, David; Gibson, Keisha; Hunley, Tracy; Abeyagunawardena, Asiri; Thalgahagoda, Shenal; Bagga, Arvind; Sinha, Aditi; Webb, Nicholas; Greenbaum, Larry; Gharavi, Ali; Kiryluk, Krzysztof; Kretzler, Matthias; Guay-Woodford, Lisa; Sanna-Cherchi, Simone; Bierzynska, Agnieszka; Koziell, Ania; Welsh, Gavin; Saleem, Moin; Rotimi, Charles; Chambers, Eileen; Chan, Cliburn; Jackson, Annette; Adeyemo, Adebowale; Gbadegesin, Rasheed

Urobiota analysis and genome-wide association study in pediatric recurrent urinary tract infections and vesicoureteral reflux

儿童复发性尿路感染和膀胱输尿管反流的尿路菌群分析和全基因组关联研究

Verbitsky, Miguel; Khosla, Pavan; Bivona, Daniel; Khan, Atlas; Gupta, Yask; Park, Heekuk; Shen, Tian H; Ghotra, Aryan; Xu, Katherine; Ghavami, Iman A; Krithivasan, Priya; Martino, Jeremiah; Sezin, Tanya; Lim, Tze Y; Kolupaeva, Victoria; Limdi, Nita A; Luo, Yuan; Hakonarson, Hakon; Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Mendelsohn, Cathy L; Uhlemann, Anne-Catrin; Barasch, Jonathan; Gharavi, Ali G

Opportunities and challenges in recurrent diffuse podocytopathy post-transplantation: the critical value of the definition

移植后复发性弥漫性足细胞病的机遇与挑战:定义的关键价值

Nuccitelli, Rachel; Toutoungis, Amadea; Martinelli, Elena; Sanna-Cherchi, Simone; Weins, Astrid; Morris, Heather K; Bomback, Andrew S; Batal, Ibrahim

Context matters: reconsidering resilience factors in dehumanization pathways to dysfunctional eating among transgender and gender diverse individuals

情境很重要:重新审视跨性别者和性别多元个体在非人化路径中导致功能失调性饮食的韧性因素

Bonato, Marina; Cherchi, Benedetta; Meneguzzo, Paolo; Ronconi, Lucia; Scala, Alberto; Tascini, Benedetta; Gatta, Michela; Garolla, Andrea; Miscioscia, Marina

Population-scale analysis reveals inherited C1-inhibitor deficiency is a polyphenotypic thrombotic disorder

人群规模分析表明,遗传性C1抑制剂缺乏症是一种多表型血栓性疾病。

Rodriguez Espada, Alfonso; Haj, Amelia K; Jurgens, Sean J; Eswaran, Harish; Sundler Björkman, Linda; Ryu, Justine; Chaudhry, Sharjeel; Koyama, Satoshi; Wang, Xin; Choi, Seung Hoan; Sanna-Cherchi, Simone; Banerji, Aleena; Rämö, Joel T; Ellinor, Patrick T; Grover, Steven P; Bendapudi, Pavan K

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

Population-Scale Studies of Protein S Abnormalities and Thrombosis

蛋白质S异常与血栓形成的人群规模研究

Chaudhry, Sharjeel A; Haj, Amelia K; Ryu, Justine; Jurgens, Sean J; Rodriguez Espada, Alfonso; Wang, Xin; Choi, Seung Hoan; Sanna-Cherchi, Simone; Grover, Steven P; Bauer, Kenneth A; Ellinor, Patrick T; Bendapudi, Pavan K

CLINICAL EPIDEMIOLOGY OF THE EFFECT OF NOVEL HYPNOTICS ON PRESCRIBING CHANGES IN PATIENTS USING BENZODIAZEPINE RECEPTOR AGONISTS

新型催眠药对使用苯二氮卓受体激动剂患者处方变化的影响的临床流行病学研究

Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S; Canetta, Pietro A; Appel, Gerald B; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C; Reich, Heather; Pei, York; Ravani, Pietro; Galesic, Kresimir; Maixnerova, Dita; Tesar, Vladimir; Stengel, Benedicte; Metzger, Marie; Canaud, Guillaume; Maillard, Nicolas; Berthoux, Francois; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato; Nelson, Raoul; Wyatt, Robert J; Smoyer, William; Mahan, John; Samhar, Al-Akash; Hidalgo, Guillermo; Quiroga, Alejandro; Weng, Patricia; Sreedharan, Raji; Selewski, David; Davis, Keefe; Kallash, Mahmoud; Vasylyeva, Tetyana L; Rheault, Michelle; Chishti, Aftab; Ranch, Daniel; Wenderfer, Scott E; Samsonov, Dmitry; Claes, Donna J; Akchurin, Oleh; Goumenos, Dimitrios; Stangou, Maria; Nagy, Judit; Kovacs, Tibor; Fiaccadori, Enrico; Amoroso, Antonio; Barlassina, Cristina; Cusi, Daniele; Del Vecchio, Lucia; Battaglia, Giovanni Giorgio; Bodria, Monica; Boer, Emanuela; Bono, Luisa; Boscutti, Giuliano; Caridi, Gianluca; Lugani, Francesca; Ghiggeri, GianMarco; Coppo, Rosanna; Peruzzi, Licia; Esposito, Vittoria; Esposito, Ciro; Feriozzi, Sandro; Polci, Rosaria; Frasca, Giovanni; Galliani, Marco; Garozzo, Maurizio; Mitrotti, Adele; Gesualdo, Loreto; Granata, Simona; Zaza, Gianluigi; Londrino, Francesco; Magistroni, Riccardo; Pisani, Isabella; Magnano, Andrea; Marcantoni, Carmelita; Messa, Piergiorgio; Mignani, Renzo; Pani, Antonello; Ponticelli, Claudio; Roccatello, Dario; Salvadori, Maurizio; Salvi, Erica; Santoro, Domenico; Gembillo, Guido; Savoldi, Silvana; Spotti, Donatella; Zamboli, Pasquale; Izzi, Claudia; Alberici, Federico; Delbarba, Elisa; Florczak, Michał; Krata, Natalia; Mucha, Krzysztof; Pączek, Leszek; Niemczyk, Stanisław; Moszczuk, Barbara; Pańczyk-Tomaszewska, Malgorzata; Mizerska-Wasiak, Malgorzata; Perkowska-Ptasińska, Agnieszka; Bączkowska, Teresa; Durlik, Magdalena; Pawlaczyk, Krzysztof; Sikora, Przemyslaw; Zaniew, Marcin; Kaminska, Dorota; Krajewska, Magdalena; Kuzmiuk-Glembin, Izabella; Heleniak, Zbigniew; Bullo-Piontecka, Barbara; Liberek, Tomasz; Dębska-Slizien, Alicja; Hryszko, Tomasz; Materna-Kiryluk, Anna; Miklaszewska, Monika; Szczepańska, Maria; Dyga, Katarzyna; Machura, Edyta; Siniewicz-Luzeńczyk, Katarzyna; Pawlak-Bratkowska, Monika; Tkaczyk, Marcin; Runowski, Dariusz; Kwella, Norbert; Drożdż, Dorota; Habura, Ireneusz; Kronenberg, Florian; Prikhodina, Larisa; van Heel, David; Fontaine, Bertrand; Cotsapas, Chris; Wijmenga, Cisca; Franke, Andre; Annese, Vito; Gregersen, Peter K; Parameswaran, Sreeja; Weirauch, Matthew; Kottyan, Leah; Harley, John B; Suzuki, Hitoshi; Narita, Ichiei; Goto, Shin; Lee, Hajeong; Kim, Dong Ki; Kim, Yon Su; Park, Jin-Ho; Cho, BeLong; Choi, Murim; Van Wijk, Ans; Huerta, Ana; Ars, Elisabet; Ballarin, Jose; Lundberg, Sigrid; Vogt, Bruno; Mani, Laila-Yasmin; Caliskan, Yasar; Barratt, Jonathan; Abeygunaratne, Thilini; Kalra, Philip A; Gale, Daniel P; Panzer, Ulf; Rauen, Thomas; Floege, Jürgen; Schlosser, Pascal; Ekici, Arif B; Eckardt, Kai-Uwe; Chen, Nan; Xie, Jingyuan; Lifton, Richard P; Loos, Ruth J F; Kenny, Eimear E; Ionita-Laza, Iuliana; Köttgen, Anna; Julian, Bruce A; Novak, Jan; Scolari, Francesco; Zhang, Hong; Gharavi, Ali G; Ayani, *Nobutaka John; Kurokawa, Takuya; Matsumoto, Yoshihiro; Oya, Nozomu; Kitaoka, Riki; Yokoi, Takato; Narumoto, Jin

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