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

Testican-2 Interaction with the Extracellular Matrix and Podocyte Protection.

Testican-2 与细胞外基质的相互作用及足细胞保护。

Wen Donghai, Zhang Qian, van Agthoven Johannes, Weins Astrid, Rosales Ivy A, Zhou Wen, Kim Taesoo, Vela Parada Xavier, Colvin Robert B, Pollak Martin R, Grams Morgan E, Schmidt Insa M, Waikar Sushrut S, Arnaout M Amin, Rhee Eugene P

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

APOL1 Bi- and Monoallelic Variants and Chronic Kidney Disease in West Africans

APOL1双等位基因和单等位基因变异与西非慢性肾病的关系

Gbadegesin, Rasheed A; Ulasi, Ifeoma; Ajayi, Samuel; Raji, Yemi; Olanrewaju, Timothy; Osafo, Charlotte; Ademola, Adebowale D; Asinobi, Adanze; Winkler, Cheryl A; Burke, David; Arogundade, Fatiu; Ekem, Ivy; Plange-Rhule, Jacob; Mamven, Manmak; Matekole, Michael; Amodu, Olukemi; Cooper, Richard; Antwi, Sampson; Adeyemo, Adebowale A; Ilori, Titilayo O; Adabayeri, Victoria; Nyarko, Alexander; Ghansah, Anita; Amira, Toyin; Solarin, Adaobi; Awobusuyi, Olugbenga; Kimmel, Paul L; Brosius, Frank Chip; Makusidi, Muhammad; Odenigbo, Uzoma; Kretzler, Matthias; Hodgin, Jeffrey B; Pollak, Martin R; Boima, Vincent; Freedman, Barry I; Palmer, Nicholette D; Collins, Bernard; Phadnis, Milind; Smith, Jill; Agwai, Celia I; Okoye, Ogochukwu; Abdu, Aliyu; Wilson, Jillian; Williams, Winfred; Salako, Babatunde L; Parekh, Rulan S; Tayo, Bamidele; Adu, Dwomoa; Ojo, Akinlolu

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

TRPC6相关足细胞病的自然史和临床病理学关联

Wooden, Benjamin; Beenken, Andrew; Martinelli, Elena; Saida, Ken; Knob, Andrea L; Ke, Juntao; Pisani, Isabella; Jin, Gina; Lane, Brandon; Mitrotti, Adele; Colby, Elizabeth; Lim, Tze Y; Guglielmi, Francesca; Osborne, Amy J; Ahram, Dina F; Wang, Chen; Armand, Farid; Zanoni, Francesca; Bomback, Andrew S; Delsante, Marco; Appel, Gerald B; Ferrari, Massimo R A; Martino, Jeremiah; Sahdeo, Sunil; Breckenridge, David; Petrovski, Slavé; Paul, Dirk S; Hall, Gentzon; Magistroni, Riccardo; Murtas, Corrado; Feriozzi, Sandro; Rampino, Teresa; Esposito, Pasquale; Helmuth, Margaret E; Sampson, Matthew G; Kretzler, Matthias; Kiryluk, Krzysztof; Shril, Shirlee; Gesualdo, Loreto; Maggiore, Umberto; Fiaccadori, Enrico; Gbadegesin, Rasheed; Santoriello, Dominick; D'Agati, Vivette D; Saleem, Moin A; Gharavi, Ali G; Hildebrandt, Friedhelm; Pollak, Martin R; Goldstein, David B; Sanna-Cherchi, Simone

The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event

APOL1 p.N264K 变异体与 G2 肾病风险变异体通过邻近重组事件共同遗传。

Simeone, Christopher A; McNulty, Michelle T; Gupta, Yask; Genovese, Giulio; Sampson, Matthew G; Sanna-Cherchi, Simone; Friedman, David J; Pollak, Martin R

In Search of the Mechanism of APOL1 Kidney Disease

探寻APOL1肾病的机制

Friedman, David J; Pollak, Martin R

Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

推进肾脏疾病基因检测:国家肾脏基金会工作组报告

Franceschini, Nora; Feldman, David L; Berg, Jonathan S; Besse, Whitney; Chang, Alexander R; Dahl, Neera K; Gbadegesin, Rasheed; Pollak, Martin R; Rasouly, Hila Milo; Smith, Richard J H; Winkler, Cheryl A; Gharavi, Ali G

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant

如果不检测保护性M1修饰基因p.N264K变异,APOL1基因分型是不完整的。

Gbadegesin, Rasheed; Martinelli, Elena; Gupta, Yask; Friedman, David J; Sampson, Matthew G; Pollak, Martin R; Sanna-Cherchi, Simone