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

Pathogenic PHIP Variants are Variably Associated With CAKUT

致病性 PHIP 变异与 CAKUT 存在不同程度的关联

Jonathan de Fallois, Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, Melissa Pauly, Georgia Vasileiou, Christin Findeisen, Antje Kampmeier, Alma Kuechler, André Reis, Eva Decker, Carsten Bergmann, Konrad Platzer, Velibor Tasic, Karin Michaela Kirschner, Shirlee Shril, Friedhelm

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants

双等位基因 DNAJC3 变异导致人类先天性高胰岛素血症和小鼠胰岛素分泌功能障碍

Alena Welters, Oliver Nortmann, Laura Wörmeyer, Clemens Freiberg, Daniel Eberhard, Nadine Bachmann, Carsten Bergmann, Ertan Mayatepek, Thomas Meissner, Sebastian Kummer

PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity

PATJ 抑制组蛋白去乙酰化酶 7,以控制紧密连接形成和细胞极性

Julia Fiedler #, Thomas Moennig #, Johanna H Hinrichs #, Annika Weber, Thomas Wagner, Tim Hemmer, Rita Schröter, Thomas Weide, Daniel Epting, Carsten Bergmann, Pavel Nedvetsky, Michael P Krahn

A novel role for the chloride intracellular channel protein Clic5 in ciliary function

氯离子细胞内通道蛋白 Clic5 在纤毛功能中的新作用

Elisabeth Ott, Sylvia Hoff, Lara Indorf, Franck Anicet Ditengou, Julius Müller, Gina Renschler, Soeren S Lienkamp, Albrecht Kramer-Zucker, Carsten Bergmann, Daniel Epting

Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

原发性 UREC:更好地了解儿童遗传性囊性肾病肾小管上皮病理的来源

Wolfgang H Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

通过全外显子组测序检测多囊肾近亲家族中的 DZIP1L 突变

Jens Michael Hertz, Per Svenningsen, Henrik Dimke, Morten Buch Engelund, Hanne Nørgaard, Anita Hansen, Niels Marcussen, Helle Charlotte Thiesson, Carsten Bergmann, Martin J Larsen

Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases

肾小球基底膜疾病中的胶原蛋白 IVα345 功能障碍。I. 在家族性古德帕斯彻病和阿尔波特病中发现 COL4A3 变体

Elena N Pokidysheva, Harald Seeger, Vadim Pedchenko, Sergei Chetyrkin, Carsten Bergmann, Dale Abrahamson, Zhao Wei Cui, Eric Delpire, Fernando C Fervenza, Aaron L Fidler, Agnes B Fogo, Ariana Gaspert, Maik Grohmann, Oliver Gross, George Haddad, Raymond C Harris, Clifford Kashtan, A Richard Kitching,

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

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

TBC1D8B 突变提示 RAB11 依赖性囊泡运输参与肾病综合征的发病机制

Lina L Kampf,Ronen Schneider,Lea Gerstner,Roland Thünauer,Mengmeng Chen,Martin Helmstädter,Ali Amar,Ana C Onuchic-Whitford,Reyner Loza Munarriz,Afig Berdeli,Dominik Müller,Eva Schrezenmeier,Klemens Budde,Shrikant Mane,Kristen M Laricchia,Heidi L Rehm,Daniel G MacArthur,Richard P Lifton,Gerd Walz,Winfried Römer,Carsten Bergmann,Friedhelm Hildebrandt,Tobias Hermle

Interaction of different Chlamydiae species with bovine spermatozoa

不同衣原体种类与牛精子的相互作用

Eckert, Thomas; Goericke-Pesch, Sandra; Heydel, Carsten; Bergmann, Martin; Kauffold, Johannes; Failing, Klaus; Wehrend, Axel