Zobrazeno 1 - 10 of 28 pro vyhledávání: '"Bärbel Klauke"'
1
Akademický článek
RBM20 mutations in left ventricular non‐compaction cardiomyopathy
Autor: Anna Gaertner, Bärbel Klauke, Andreas Brodehl, Hendrik Milting
Publikováno v: Pediatric Investigation, Vol 4, Iss 1, Pp 61-63 (2020)
Externí odkaz: https://doaj.org/article/eb40eb4ee1df432e85b5ff4ed825a23c
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2
Akademický článek
The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3
Autor: 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
Publikováno v: Biomedicines, Vol 9, Iss 10, p 1400 (2021)
Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM). Herein, we screened an index patient with RCM in combination with atrial fibrillation using a next generation sequencing (NGS) approach and identified the he
Externí odkaz: https://doaj.org/article/3f65635a238b46a88033c89ee02229ea
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3
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy
Autor: Hendrik Milting, Hans Ebbinghaus, Marcus-André Deutsch, Brenda Gerull, Jens Tiesmeier, Andreas Peterschröder, Caroline Stanasiuk, Anna Gärtner, Jan Gummert, Henrik Fox, Bärbel Klauke, Thorsten Laser, Lech Paluszkiewicz, Jana Davina Debus, Jördis Bax, Jürgen Weiss, Andreas Brodehl
Publikováno v: Journal of Molecular and Cellular Cardiology. 141:17-29
Aims We aimed to unravel the genetic, molecular and cellular pathomechanisms of DSC2 truncation variants leading to arrhythmogenic cardiomyopathy (ACM). Methods and results We report a homozygous 4-bp DSC2 deletion variant c.1913_1916delAGAA, p.Q638L
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c610bc73c78d0b7ccb75c61ed6800be4
https://doi.org/10.1016/j.yjmcc.2020.03.006
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4
The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3
Autor: Hendrik Milting, Hermann Körperich, Andreas Brodehl, Jörn Kalinowski, Jan Gummert, Marcus-André Deutsch, Anna Gaertner, Carsten Hain, Bärbel Klauke, Sandra Ratnavadivel, Franziska Flottmann, Lech Paluszkiewicz
Publikováno v: Biomedicines
Biomedicines, Vol 9, Iss 1400, p 1400 (2021)
Currently, little is known about the genetic background of restrictive cardiomyopathy (RCM). Herein, we screened an index patient with RCM in combination with atrial fibrillation using a next generation sequencing (NGS) approach and identified the he
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::003ef75db335ce55be02710bcb387a58
http://europepmc.org/articles/PMC8533191
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6
A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy
Autor: Ilona Schirmer, Uwe Schulz, Anna Gaertner-Rommel, Andreas Brodehl, Hendrik Milting, Bärbel Klauke, Mareike Dieding, Lech Paluszkiewicz, Dario Anselmetti, Volker Walhorn, Jan Gummert
Publikováno v: Molecular Genetics & Genomic Medicine
Background DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. Methods Using a next-generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in-frame indel mutation (DES-c.493_52
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cc015650bb761ccfc8b3d64e224c34a
http://europepmc.org/articles/PMC5902401
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7
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
Autor: O. V. Kulikova, Oxana Drapkina, Stephan Schubert, Valentin Sinitsyn, Hendrik Milting, Bärbel Klauke, Maria Kudryavtseva, Brenda Gerull, Kai Thorsten Laser, Anna Gärtner, Jan Gummert, Elena Mershina, Alexey N Meshkov, Mikhail G. Divashuk, A. V. Kiseleva, Karin Klingel, Sergey Boytsov, Evgeniia Sotnikova, Greta Marie Pohl, Sergey Koretskiy, Polina Pilus, R. P. Myasnikov, Andreas Brodehl, Caroline Stanasiuk, Anastasia Zharikova
Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 7
International Journal of Molecular Sciences, Vol 22, Iss 3786, p 3786 (2021)
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1db2879cd3fc46099cde0036d4e39e
https://doi.org/10.3390/ijms22073786
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9
The novel B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy
Autor: Lech Paluszkiewicz, Dario Anselmetti, Matthias Vorgerd, Andreas Brodehl, Bärbel Klauke, Jan Gummert, Andreas Peterschröder, Uwe Schulz, Anna Gaertner-Rommel, Simon Andre Grewe, Hendrik Milting, Ilona Schirmer, Lothar Faber
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9550fb4721468725ab137f78efcd46c9
https://pub.uni-bielefeld.de/record/2913150
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