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Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing

心肌病相关的桥粒胶蛋白-2前结构域变体影响细胞内钙粘蛋白的运输和加工

doi:10.3389/fcvm.2023.1127261

Greta Marie Pohl, Manuel Göz, Anna Gaertner, Andreas Brodehl, Tolga Cimen, Ardan M Saguner, Eric Schulze-Bahr, Volker Walhorn, Dario Anselmetti, Hendrik Milting

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

扩张型心肌病患者体内的复合杂合 FKTN 变异导致异常 α-Dystroglycan 模式

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms23126685

Anna Gaertner, Lidia Burr, Baerbel Klauke, Andreas Brodehl, Kai Thorsten Laser, Karin Klingel, Jens Tiesmeier, Uwe Schulz, Edzard Zu Knyphausen, Jan Gummert, Hendrik Milting

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

结蛋白突变 DES-c.735G>C 通过诱导外显子 3 的跳帧导致严重的限制性心肌病

期刊:Biomedicines

影响因子:3.9

doi:10.3390/biomedicines9101400

Andreas Brodehl, Carsten Hain, Franziska Flottmann, Sandra Ratnavadivel, Anna Gaertner, Bärbel Klauke, Jörn Kalinowski, Hermann Körperich, Jan Gummert, Lech Paluszkiewicz, Marcus-André Deutsch, Hendrik Milting

The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy

人类截短型 TTN 和 RBM20 突变基因型与扩张型心肌病的严重和早期发作相关

期刊:Genes

影响因子:

doi:10.3390/genes12060883

Anna Gaertner, Julia Bloebaum, Andreas Brodehl, Baerbel Klauke, Katharina Sielemann, Astrid Kassner, Henrik Fox, Michiel Morshuis, Jens Tiesmeier, Uwe Schulz, Ralph Knoell, Jan Gummert, Hendrik Milting

In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns

致心律失常性心肌病相关桥粒芯蛋白-2 (DSG2) 突变的体外分析揭示了多种糖基化模式

期刊:Journal of Molecular and Cellular Cardiology

影响因子:4.9

doi:10.1016/j.yjmcc.2019.03.014

Jana Davina Debus, Hendrik Milting, Andreas Brodehl, Astrid Kassner, Dario Anselmetti, Jan Gummert, Anna Gaertner-Rommel

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

对一例年轻心脏性猝死病例进行分子尸检和家族筛查，发现其患有异常严重的 FHL1 相关肥厚性心肌病

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.5

doi:10.1002/mgg3.841

Anna Gaertner-Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann-Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics

心律失常性心肌病相关的 DSG2 突变影响桥粒钙粘蛋白结合动力学

期刊:Scientific Reports

影响因子:3.8

doi:10.1038/s41598-017-13737-x

Mareike Dieding, Jana Davina Debus, Raimund Kerkhoff, Anna Gaertner-Rommel, Volker Walhorn, Hendrik Milting, Dario Anselmetti

'We can do only what we have the means for' general practitioners' views of primary care for older people with complex health problems

“我们只能做我们有能力做的事情”——全科医生对老年人复杂健康问题初级保健的看法

期刊:BMC Family Practice

影响因子:3.2

doi:10.1186/s12875-015-0249-2

Herzog, Anna; Gaertner, Beate; Scheidt-Nave, Christa; Holzhausen, Martin

发表日期：2015

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In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations

致心律失常性右心室心肌病相关桥粒芯蛋白-2错义变异的体外功能分析

期刊:PLoS One

影响因子:2.9

doi:10.1371/journal.pone.0047097

Anna Gaertner, Baerbel Klauke, Ines Stork, Karsten Niehaus, Gesa Niemann, Jan Gummert, Hendrik Milting

Haploidentical γδ T Cells Induce Complete Remission in Chemorefractory B-cell Non-Hodgkin Lymphoma

单倍体相合的γδ T细胞可诱导化疗难治性B细胞非霍奇金淋巴瘤完全缓解

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing

心肌病相关的桥粒胶蛋白-2前结构域变体影响细胞内钙粘蛋白的运输和加工

Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

扩张型心肌病患者体内的复合杂合 FKTN 变异导致异常 α-Dystroglycan 模式

The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

结蛋白突变 DES-c.735G>C 通过诱导外显子 3 的跳帧导致严重的限制性心肌病

The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy

人类截短型 TTN 和 RBM20 突变基因型与扩张型心肌病的严重和早期发作相关

In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns

致心律失常性心肌病相关桥粒芯蛋白-2 (DSG2) 突变的体外分析揭示了多种糖基化模式

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

对一例年轻心脏性猝死病例进行分子尸检和家族筛查，发现其患有异常严重的 FHL1 相关肥厚性心肌病

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics

心律失常性心肌病相关的 DSG2 突变影响桥粒钙粘蛋白结合动力学

'We can do only what we have the means for' general practitioners' views of primary care for older people with complex health problems

“我们只能做我们有能力做的事情”——全科医生对老年人复杂健康问题初级保健的看法

In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations

致心律失常性右心室心肌病相关桥粒芯蛋白-2错义变异的体外功能分析