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

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies

基于网络的原发性纤毛病病因和表型多样性研究框架

Aarts, Ellen M; Laman Trip, Diederik S; Neatu, Ruxandra; Martin, Charlotte G; Riley, Beth; Kraus, Alison; Green, Abigail; Al-Hamed, Mohamed H; Armstrong, Rachel E; Sayer, John A; Bachmann-Gagescu, Ruxandra; Beltrao, Pedro

PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development

PKD1 5'UTR变异是ADPKD中一种罕见的致病因素,提示了治疗研发的新方向。

Wedd, Laura; Hort, Yvonne; Patel, Chirag; Sayer, John A; Rius, Rocio; Mallett, Andrew J; Cottle, Denny L; Smyth, Ian M; Furlong, Timothy; Shine, John; Mallawaarachchi, Amali

The UK kidney association 2025 academic census: a national survey to identify workforce improvements

英国肾脏协会2025年学术普查:一项旨在确定劳动力改进的全国性调查

Oni, Louise; Saunders, Alice; Vernon, Kelly; Hardwick, Hayley; Sayer, John A; Parker, Kathrine

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype

双等位基因<italic>TMEM72</italic>变异体在具有肾痨样表型的患者中

Claus, Laura R; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius J C; Sendino Garví, Elena; Peters, Edith D J; Savelberg, Sanne M C; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q; Broekhuizen, Roel; Brummelhuis, Walter J; Rookmaaker, Maarten; van der Veen, Suzanne W; Elferink, Martin G; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A; Olinger, Eric; Neatu, Ruxandra; Klämbt, Verena; Stokman, Marijn F; Knoers, Nine V A M; Tessadori, Federico; Gale, Daniel P; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; van Haaften, Gijs; van Eerde, Albertien M

Quantitative ultrasound assessment of lower limb muscle morphology in type 2 diabetes with and without peripheral neuropathy

2型糖尿病伴或不伴周围神经病变患者下肢肌肉形态的定量超声评估

Al Alawi, Intisar; Al Awadi, Maha; Al Awaid, Fatma; Pillai, Joshua; Sampson, Matthew; Arcila Galvis, Juliana E; Al Maimani, Ashwaq; Al Hashmi, Zainab; Sayer, John A; S, Sharath; Maiya, G Arun; Kadavigere, Rajagopal; K, Prakashini; Nagri, Shivashankar Kaniyoor

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

与单等位基因ALG8和ALG9致病变异相关的囊性表型的特征

Jawaid, Tabinda; Elbarougy, Doaa E; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R; Olinger, Eric; Yang, Hana; McDonnell, Shannon K; Bublitz, Joshua T; Ma, Jun; Audrézet, Marie-Pierre; Madsen, Charles D; Schauer, Rachel S; Baker, Tracy A; Gregory, Adriana V; Orr, Sarah E; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K; Kline, Timothy L; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D; Steinman, Theodore I; Peters, Dorien J M; Gitomer, Berenice Y; Watnick, Terry J; Coto, Eliecer; Chebib, Fouad T; Hogan, Marie C; Olson, Janet E; Larson, Nicholas B; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E; Sayer, John A; Cornec-Le Gall, Emilie; Harris, Peter C

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

尿源性肾上皮细胞用于法布里病的深度表型分析和转录组治疗反应研究

Sudhindar Praveen Dhondurao, Orr Sarah E, Miller-Hodges Eve, Molinari Elisa, Wood Katrina, Srivastava Shalabh, Miles Colin G, Mabillard Holly R, Sentell Zachary T, Trevisan-Herraz Marco, Arcila-Galvis Juliana E, Sayer John A

Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome

吉特曼综合征的临床特征、症状和长期预后

Wieërs, Michiel L A J; Allard, Lise; D'Ambrosio, Viola; Arango-Sancho, Pedro; de Baaij, Jeroen H F; Becherucci, Francesca; Bertholet-Thomas, Aurelia; Besouw, Martine; Blanchard, Anne; Cacciapuoti, Martina; Carbone, Vincenza; Cornelissen, Elisabeth A; Daffara, Federico; Degenhardt, Jan; Devuyst, Olivier; Dorresteijn, Eiske; Evans, Rhys; Figueres, Lucile; Fila, Marc; Giliberti, Marica; Gillion, Valentine; Haumann, Sophie; Hawkins-van der Cingel, Gerlineke; Houillier, Pascal; Hureaux, Marguerite; Knauf, Felix; Knebelmann, Bertrand; Konrad, Martin; Kwon, Theresa; Lemoine, Sandrine; Longo, Germana; Nijenhuis, Tom; Engberink, Rik H G Olde; Duro, Hector Ríos; Saadé, Chloé; Sayer, John A; Schlingmann, Karl-Peter; Simon, Thomas; Speeckaert, Marijn M; Tan, Hai Liang; Trepiccione, Francesco; Vargas-Poussou, Rosa; Veligratti, Faidra; Walsh, Stephen B; Salih, Mahdi; Imenez Silva, Pedro H; Hoorn, Ewout J

Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working Group

常染色体显性多囊肾病肾切除术:ERA基因与肾脏工作组共识声明

Geertsema, Paul; Gansevoort, Ron T; Arici, Mustafa; Capasso, Giovambattista; Cornec-Le Gall, Emilie; Furlano, Monica; Fuster, Daniel G; Galletti, Flavia; Gómez Dos Santos, Victoria; Perez Gomez, Maria Vanessa; Goumenos, Dimitrios; Halbritter, Jan; Jambon, Eva; Korst, Uwe; Leliveld-Kors, Anna M; Musquera, Mireia; Figueiredo, Arnaldo; Nijenhuis, Tom; Olsburgh, Jonathon; Pol, Robert A; Sayer, John A; Stippel, Dirk; Torra, Roser; Müller, Roman-Ulrich; Casteleijn, Niek F