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J

John A. Sayer

newcastle university

56H指数
1.2K论文数
1.2W被引数
收录论文 129
发表时间
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Nephrin missense variants affecting post-translational modifications and surface exposure in the slit diaphragmNephrin错义变异影响裂隙隔膜的后翻译修饰和表面暴露
errKidney International
IF12.6
err2026-09-18
err0
PREAI
errJoshua P. Pillai; John A. Sayer
err分享
err收藏
Genetic Evaluation Practices in Living Kidney Donor Candidates活体肾捐献候选者的遗传评估实践
errKidney International Reports
IF5.7
err2026-06-18
err0
errOAAI
errYasar Caliskan; Ozgur Akin Oto; Tarek Alhamad; Halil Yazici; Arzu Velioglu; Abdulmecit Yildiz; Danilo Radunovic; Neetika Garg; Andreas Kousios; Zeynep Ural; Christina Mejia; Ondrej Viklicky; John Sayer; Arksarapuk Jittirat; Mingyao Becky Ma; Mohit Madken; Sultan Ozkurt; Reem Daloul; Hernando Trujillo; Karim Soliman
err分享
err收藏
Primary hyperoxaluria type 1 – current practice in the siRNA era: an ERA Genes & Kidney Working Group survey原发性高草酸尿症1型——siRNA时代的当前实践：ERA基因与肾脏工作组调查
errClinical Kidney Journal
IF4.6
err2026-05-25
err0
errOAAI
errMalte P Bartram; Giovambattista Capasso; Emilie Cornec-Le Gall; Lisa J Deesker; Albertien M van Eerde; Lucile Figueres; Maria Vanessa Perez Gomez; Jaap Groothoff; Laila Oublam; Jan Halbritter; Ewout J Hoorn; Tom Nijenhuis; John A Sayer; Bodo B Beck; Roman-Ulrich Müller; the PH1 Survey Study Group
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Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies编者按：不同的表型但相同的基因型：关于纤毛病表型多样性的提示
errFrontiers in Molecular Biosciences
IF4
err2025-12-11
err0
errOAAI
errJohn A. Sayer; Heymut Omran; Ewa Zietkiewicz
err分享
err收藏
#3174 Monoallelic IFT172 variants as a genetic contributor to the ADPKD spectrum#3174 单等位基因 IFT172 变异作为 ADPKD 谱的遗传贡献因素
errNephrology Dialysis Transplantation
IF5.6
err2025-10-21
err0
errOAAI
errNikola Zagorec; Doaa Elbarougy; Marie-Pierre Audrezet; Hana Yang; Laurence Michel-Calemard; Pierre André Massard; John Sayer; Peter Harris; Emilie Cornec-Le Gall
err分享
err收藏
A Novel Founder PKHD1 Disease Causing Variant in Israeli Bedouins With Autosomal Recessive Polycystic Kidney Disease一种在患有常染色体隐性多囊肾病以色列贝都因人中发现的PKHD1基因新型始祖致病变异
errAmerican Journal of Kidney Diseases
IF8.2
err2025-10-18
err0
PREAI
errJohn A. Sayer; Joshua Pillai
err分享
err收藏
Mono-allelic pathogenic variants in JAG1 cause Autosomal Dominant Tubulo-interstitial Kidney Disease (ADTKD-JAG1)JAG1基因的单等位基因致病性变异可导致常染色体显性肾小管间质性肾脏病（ADTKD-JAG1）。
errKidney International
IF12.6
err2025-10-06
err0
PREAI
errLucie Menguy; Laurent Hudier; Mohamad Zaidan; Bertrand Knebelmann; John A. Sayer; Juliana Arcila Galvis; Christelle Arondel; Aurélie Hummel; Guillaume Dorval; Vincent Morinière; Landrine Fula-Pitu; Chiara Guerrera; David Buob; Maud Rabeyrin; Pierre Marijon; Nolwen Jean-Marcais; Chloé Fournier; Jean-Paul Duong Van Huyen; Corinne Antignac; Sophie Saunier; Laurence Heidet
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Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy尿路肾上皮细胞可用于NPHP1表型分析和个性化治疗策略。
errJOURNAL OF CELL SCIENCE
IF3.6
err2025-10-01
err0
PREAI
errSudhindar, Praveen Dhondurao; Olinger, Eric; Sentell, Zachary T.; Mabillard, Holly; Dicka, Barbora; Wood, Katrina; Rutland, Dominic; Collins, Catherine; Trevisan-Herraz, Marco; Sayer, John A.; Arcila-Galvis, Juliana E.
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Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies解决纤毛特化问题以理解人类原发性纤毛病的表型可变性
errJOURNAL OF CELL SCIENCE
IF3.6
err2025-10-01
err0
PREAI
errBachmann-Gagescu, Ruxandra; Sayer, John A.
err分享
err收藏
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic developmentPKD1 5’UTR变异是ADPKD中疾病的罕见原因，并提示了一个新的治疗开发焦点。
errEuropean Journal of Human Genetics
IF4.6
err2025-09-26
err0
errOAAI
errLaura Wedd; Yvonne Hort; Chirag Patel; John A. Sayer; Rocio Rius; Andrew J. Mallett; Denny L. Cottle; Ian M. Smyth; Timothy Furlong; John Shine; Amali Mallawaarachchi
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err收藏
10 tips on how to take a proper family history in CKD patient care10 条关于如何在 CKD 患者护理中获取正确家族史的建议
errCLINICAL KIDNEY JOURNAL
IF4.6
err2025-09-01
err2
errOAAI
errCornec-Le Gall, Emilie; van Eerde, Albertien M.; Figueres, Lucile; Simons, Matias; Capasso, Giovambattista; Perez Gomez, Maria Vanessa; Nijenhuis, Tom; Sayer, John A.; Zagorec, Nikola; Mueller, Roman-Ulrich; Halbritter, Jan
err分享
err收藏
Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease利用大型基因组生物银行生成对遗传性肾脏疾病的见解
errSeminars in Nephrology
IF3.5
err2025-07-11
err0
PREAI
errAlexander R. Chang; Janewit Wongboonsin; Andrew J. Mallett; Ana Morales; Kyle Retterer; Tooraj Mirshahi; John A. Sayer
err分享
err收藏
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies基因型-表型相关性及遗传性TRPC6足细胞病变的临床结局
errNephrology Dialysis Transplantation
IF5.6
err2025-06-01
err0
PREAI
errMcAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J.
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SOX9-dependent fibrosis drives renal function in nephronophthisisSOX9依赖性纤维化驱动肾小管间质性肾炎的肾功能
errEMBO MOLECULAR MEDICINE
IF8.3
err2025-04-10
err0
errOAAI
errPatel, Maulin Mukeshchandra; Gerakopoulos, Vasileios; Lettenmaier, Bryan; Petsouki, Eleni; Zimmerman, Kurt A.; Sayer, John A.; Tsiokas, Leonidas
err分享
err收藏
Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN全球原发性高草酸尿症的管理：代表OxalEurope、ERA的G&K Working Group及ESPN开展的调查
errNEPHROLOGY DIALYSIS TRANSPLANTATION
IF5.6
err2025-02-21
err1
PREAI
errLisa J Deesker; Laila Oubram; Reham Almardini; Michelle A Baum; M Bonilla-Felix; Lucile Figueres; Sander F Garrelfs; Jaap W Groothoff; Pépé M Ekulu; Roman-Ulrich Müller; Michiel J S Oosterveld; Shen Qian; John A Sayer; Neveen Soliman; Shabbir H Moochhala; Justine Bacchetta
err分享
err收藏
SGLT2-Inhibition in Patients With Alport Syndrome
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2024-12-01
err1
errOAAI
errBoeckhaus, Jan; Gale, Daniel P.; Simon, James; Ding, Jie; Zhang, Yanqin; Bergmann, Carsten; Turner, A. Neil; Hall, Matthew; Sayer, John A.; Srivastava, Shalabh; Kang, Hee Gyung; Cerkauskaite-Kerpauskiene, Agne; Gillion, Valentine; Claes, Kathleen J.; Krueger, Bastian; de Fallois, Jonathan; Walden, Ulrike; Choi, Mira; Schueler, Markus; Mueller, Roman-Ulrich; Todorova, Polina; Hohenstein, Bernd; Zeisberg, Michael; Friede, Tim; Knebelmann, Bertrand; Halbritter, Jan; Gross, Oliver
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Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140由单等位基因致病性变异引起的IFT140非典型常染色体显性多囊肾病临床谱与预后
errAMERICAN JOURNAL OF KIDNEY DISEASES
IF8.2
err2024-12-01
err0
PREAI
errZagorec, N; Calamel, A; Delaporte, M; Olinger, E; Orr, S; Sayer, JA; Pillay, VG; Denommé-Pichon, AS; Mau-Them, FT; Nambot, S; Faivre, L; Ars, E; Torra, R; Ong, ACM; Devuyst, O; Perico, N; Després, AM; Lemoine, H; de Fallois, J; Brousse, R; Hummel, A; Knebelmann, B; Maisonneuve, N; Halbritter, J; Le Meur, Y; Audrézet, MP; Cornec-Le Gall, E
err分享
err收藏
UMOD Genotype and Determinants of Urinary Uromodulin in African Populations
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2024-12-01
err1
errOAAI
errStrauss-Kruger, Michel; Olinger, Eric; Hofmann, Patrick; Wilson, Ian J.; Mels, Carina; Kruger, Ruan; Gafane-Matemane, Lebo F.; Sayer, John A.; Ricci, Cristian; Schutte, Aletta E.; Devuyst, Olivier
err分享
err收藏
Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline
errHYPERTENSION
IF8.2
err2024-09-01
err0
PREAI
errWopperer, Florian J.; Olinger, Eric; Wiesener, Antje; Broeker, Katharina A. E.; Knaup, Karl X.; Schaefer, Jan T.; Galiano, Matthias; Schneider, Karen; Schiffer, Mario; Buettner-Herold, Maike; Reis, Andre; Schmieder, Roland; Pasutto, Francesca; Hilgers, Karl F.; Poglitsch, Marko; Ziegler, Christine; Shoemaker, Robin; Sayer, John A.; Wiesener, Michael S.
err分享
err收藏
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort英国国家罕见肾脏疾病登记队列中25,880名成人和儿童的描述和横断面分析
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2024-07-01
err0
errOAAI
errWong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Coward, Richard J.; Chrysochou, Tina; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R.; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A.; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick W. K.; Thomas, Kay; Turner, A. Neil; Walsh, Stephen B.; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Sy, Karla Therese L.; Huang, Kui; Ye, Jamie; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P.
err分享
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研究方向

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