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

Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome

鳃肾综合征的致病机制和肾脏疾病的遗传修饰因子的探索

Sebastian Sewerin, Charlotte Aurnhammer, Cene Skubic, Kaja Blagotinšek Cokan, Jera Jeruc, Damjana Rozman, Frederick Pfister, Katalin Dittrich, Brigitte Mayer, Ria Schönauer, Friederike Petzold, Jan Halbritter

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

新型体细胞 PBX1 嵌合体可能掩盖了患有双侧肾发育不全的成人的综合征性 CAKUT

Friederike Petzold, Wenjun Jin, Elena Hantmann, Katharina Korbach, Ria Schönauer, Jan Halbritter

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

A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles

失调的应激反应是 INF2 相关疾病特征的基础

Samet Bayraktar, Julian Nehrig, Ekaterina Menis, Kevser Karli, Annette Janning, Thaddäus Struk, Jan Halbritter, Ulf Michgehl, Michael P Krahn, Christian E Schuberth, Hermann Pavenstädt, Roland Wedlich-Söldner

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

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition

常染色体显性肾小管间质性肾病中黏蛋白-1的双等位基因表达:对非遗传性疾病识别的意义

Karl X Knaup, Thomas Hackenbeck, Bernt Popp, Johanna Stoeckert, Andrea Wenzel, Maike Büttner-Herold, Frederick Pfister, Markus Schueler, Didem Seven, Annette M May, Jan Halbritter, Hermann-Josef Gröne, André Reis, Bodo B Beck, Kerstin Amann, Arif B Ekici, Michael S Wiesener

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development

核苷二磷酸激酶 NME3 与肾痨蛋白相关,是肾脏发育过程中纤毛功能所必需的

Sylvia Hoff, Daniel Epting, Nathalie Falk, Sophie Schroda, Daniela A Braun, Jan Halbritter, Friedhelm Hildebrandt, Albrecht Kramer-Zucker, Carsten Bergmann, Gerd Walz, Soeren S Lienkamp

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

MAPKBP1基因突变导致青少年或晚发性纤毛非依赖性肾痨

Maxence S Macia ,Jan Halbritter ,Marion Delous ,Cecilie Bredrup ,Arthur Gutter ,Emilie Filhol ,Anne E C Mellgren ,Sabine Leh ,Albane Bizet ,Daniela A Braun ,Heon Y Gee ,Flora Silbermann ,Charline Henry ,Pauline Krug ,Christine Bole-Feysot ,Patrick Nitschké ,Dominique Joly ,Philippe Nicoud ,André Paget ,Heidi Haugland ,Damien Brackmann ,Nayir Ahmet ,Richard Sandford ,Nurcan Cengiz ,Per M Knappskog ,Helge Boman ,Bolan Linghu ,Fan Yang ,Edward J Oakeley ,Pierre Saint Mézard ,Andreas W Sailer ,Stefan Johansson ,Eyvind Rødahl ,Sophie Saunier ,Friedhelm Hildebrandt ,Alexandre Benmerah

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

全外显子组测序可识别出大多数近亲或家族性儿童期发病肾脏回声增强病例的致病突变。

Daniela A Braun # ,Markus Schueler # ,Jan Halbritter ,Heon Yung Gee ,Jonathan D Porath ,Jennifer A Lawson ,Rannar Airik ,Shirlee Shril ,Susan J Allen ,Deborah Stein ,Adila Al Kindy ,Bodo B Beck ,Nurcan Cengiz ,Khemchand N Moorani ,Fatih Ozaltin ,Seema Hashmi ,John A Sayer ,Detlef Bockenhauer ,Neveen A Soliman ,Edgar A Otto ,Richard P Lifton ,Friedhelm Hildebrandt