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

The landscape of allele-specific expression in human kidneys

人类肾脏中等位基因特异性表达的图谱

Onuchic-Whitford, Ana C; Sung, Junmo; Sakkas, Eric D; McNulty, Michelle T; O'Connor, Christopher L; Greenberg, Anya; Yoon, Jihoon G; Badina, Sowmya; Mariani, Laura H; Bitzer, Markus; Sampson, Matthew G; Lee, Dongwon

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

A guide to gene-disease relationships in nephrology

肾脏病学中基因-疾病关系指南

Stark, Zornitza; Byrne, Alicia B; Sampson, Matthew G; Lennon, Rachel; Mallett, Andrew J

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

Loss of genome maintenance is linked to mTOR complex 1 signaling and accelerates podocyte damage.

基因组维护的丧失与 mTOR 复合物 1 信号传导有关,并加速足细胞损伤

Braun Fabian, Mandel Amrei M, Blomberg Linda, Wong Milagros N, Chatzinikolaou Georgia, Meyer David H, Reinelt Anna, Nair Viji, Akbar-Haase Roman, McCown Phillip J, Haas Fabian, Chen He, Rahmatollahi Mahdieh, Fermin Damian, Ebbestad Robin, Slaats Gisela G, Bork Tillmann, Schell Christoph, Koehler Sybille, Brinkkoetter Paul T, Lindenmeyer Maja T, Cohen Clemens D, Kann Martin, Unnersjö-Jess David, Bloch Wilhelm, Sampson Matthew G, Dollé Martijn Et, Puelles Victor G, Kretzler Matthias, Garinis George A, Huber Tobias B, Schermer Bernhard, Benzing Thomas, Schumacher Björn, Kurschat Christine E

Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology

下一代肾脏病学:第一部分——儿科肾脏病学中基因和基因组检测的辅助工具

Gupta, Asheeta; Jayasinghe, Kushani; Majmundar, Amar; Mann, Nina; Sinha, Rajiv; Sampson, Matthew G; Quinlan, Catherine

Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective

下一代肾脏病学:第二部分——肾脏病学基因组学主流化:全球视角

Gupta, Asheeta; Jayasinghe, Kushani; Majmundar, Amar; Mann, Nina; Sinha, Rajiv; Sampson, Matthew G; Quinlan, Catherine

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

The Significance of Hematuria in Podocytopathies

血尿在足细胞病中的意义

Marchel, Dorota; Trachtman, Howard; Larkina, Maria; Helmuth, Margaret; Lai Yee, Jennifer Y; Fermin, Damian; Bomback, Andrew S; Canetta, Pietro A; Gipson, Debbie S; Mottl, Amy K; Parekh, Rulan S; Saha, Manish K; Sampson, Matthew G; Lafayette, Richard A; Mariani, Laura H