日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

隐性 NOS1AP 变异会损害肌动蛋白重塑并导致人类和小鼠出现肾小球病

Amar J Majmundar, Florian Buerger, Thomas A Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch, Thomas M Kitzler, Sara E Howden, Michelle Scurr, Ker Sin Tan, Mickaël Krzeminski, Eugen Widmeier, Daniela A Braun, Ethan Lai, Ihsan Ullah, Ali Amar, Amy Kolb, Kaitlyn Eddy, Chin Heng Chen, Daanya

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

胱氨酸基因变异导致常染色体隐性多囊肾病,与 Myc 表达改变有关

Chaozhe Yang, Naoe Harafuji, Amber K O'Connor, Robert A Kesterson, Jacob A Watts, Amar J Majmundar, Daniela A Braun, Monkol Lek, Kristen M Laricchia, Hanan M Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M Guay-Woodford

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

新的肾痨相关变异揭示了 MAPKBP1 二聚化对中心粒募集的功能重要性

Ria Schönauer, Wenjun Jin, Anastasia Ertel, Melanie Nemitz-Kliemchen, Nydia Panitz, Elena Hantmann, Anna Seidel, Daniela A Braun, Shirlee Shril, Matthias Hansen, Khurrum Shahzad, Richard Sandford, Sophie Saunier, Alexandre Benmerah, Carsten Bergmann, Friedhelm Hildebrandt, Jan Halbritter

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

DAAM2 变异通过肌动蛋白失调引起肾病综合征

Ronen Schneider, Konstantin Deutsch, Gregory J Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A Braun, Steve Seltzsam, Thomas M Kitzler, Youying Mao, Florian Buerger, Amar J Majmundar, Ana C Onuchic-Whitford, Caroline M Kolvenbach, Luca Schierbaum, Sophia Schneider, Abdul A Halawi, Makiko Nakaya

Monogenic causes of chronic kidney disease in adults

成人慢性肾脏病的单基因病因

Dervla M Connaughton ,Claire Kennedy ,Shirlee Shril ,Nina Mann ,Susan L Murray ,Patrick A Williams ,Eoin Conlon ,Makiko Nakayama ,Amelie T van der Ven ,Hadas Ityel ,Franziska Kause ,Caroline M Kolvenbach ,Rufeng Dai ,Asaf Vivante ,Daniela A Braun ,Ronen Schneider ,Thomas M Kitzler ,Brona Moloney ,Conor P Moran ,John S Smyth ,Alan Kennedy ,Katherine Benson ,Caragh Stapleton ,Mark Denton ,Colm Magee ,Conall M O'Seaghdha ,William D Plant ,Matthew D Griffin ,Atif Awan ,Clodagh Sweeney ,Shrikant M Mane ,Richard P Lifton ,Brenda Griffin ,Sean Leavey ,Liam Casserly ,Declan G de Freitas ,John Holian ,Anthony Dorman ,Brendan Doyle ,Peter J Lavin ,Mark A Little ,Peter J Conlon ,Friedhelm Hildebrandt

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

由于 GON7 和 YRDC 突变导致 t6A tRNA 修饰缺陷,从而导致 Galloway-Mowat 综合征

Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

ADAMTS9 突变导致肾痨相关纤毛病

Yo Jun Choi, Jan Halbritter, Daniela A Braun, Markus Schueler, David Schapiro, John Hoon Rim, Sumeda Nandadasa, Won-Il Choi, Eugen Widmeier, Shirlee Shril, Friederike Körber, Sidharth K Sethi, Richard P Lifton, Bodo B Beck, Suneel S Apte, Heon Yung Gee, Friedhelm Hildebrandt

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

基因组测序确定了 235 个巴基斯坦肾结石家族中 7% 的肾结石可能由单基因病因引起

Ali Amar, Amar J Majmundar, Ihsan Ullah, Ayesha Afzal, Daniela A Braun, Shirlee Shril, Ankana Daga, Tilman Jobst-Schwan, Mumtaz Ahmad, John A Sayer, Heon Yung Gee, Jan Halbritter, Thomas Knöpfel, Nati Hernando, Andreas Werner, Carsten Wagner, Shagufta Khaliq, Friedhelm Hildebrandt

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

六种肾病基因突变揭示出一种可治疗的致病途径

Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pab

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

核孔复合体多个成分的突变导致肾病综合征

Daniela A Braun, Svjetlana Lovric, David Schapiro, Ronen Schneider, Jonathan Marquez, Maria Asif, Muhammad Sajid Hussain, Ankana Daga, Eugen Widmeier, Jia Rao, Shazia Ashraf, Weizhen Tan, C Patrick Lusk, Amy Kolb, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Kaitlyn Eddy,