Gaertner A - Search Results

1

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

Gaertner A, Bloebaum J, Brodehl A, Klauke B, Sielemann K, Kassner A, Fox H, Morshuis M, Tiesmeier J, Schulz U, Knoell R, Gummert J, Milting H. Gaertner A, et al. Genes (Basel). 2021 Jun 8;12(6):883. doi: 10.3390/genes12060883. Genes (Basel). 2021. PMID: 34201072 Free PMC article.

2

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H. Klauke B, et al. Among authors: gaertner a. Hum Mol Genet. 2010 Dec 1;19(23):4595-607. doi: 10.1093/hmg/ddq387. Epub 2010 Sep 9. Hum Mol Genet. 2010. PMID: 20829228

3

Myocardial transcriptome analysis of human arrhythmogenic right ventricular cardiomyopathy.

Gaertner A, Schwientek P, Ellinghaus P, Summer H, Golz S, Kassner A, Schulz U, Gummert J, Milting H. Gaertner A, et al. Physiol Genomics. 2012 Jan 18;44(1):99-109. doi: 10.1152/physiolgenomics.00094.2011. Epub 2011 Nov 15. Physiol Genomics. 2012. PMID: 22085907

4

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

Gaertner A, Klauke B, Stork I, Niehaus K, Niemann G, Gummert J, Milting H. Gaertner A, et al. PLoS One. 2012;7(10):e47097. doi: 10.1371/journal.pone.0047097. Epub 2012 Oct 10. PLoS One. 2012. PMID: 23071725 Free PMC article.

5

Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking.

Kant S, Krusche CA, Gaertner A, Milting H, Leube RE. Kant S, et al. Among authors: gaertner a. Cardiovasc Res. 2016 Feb 1;109(2):260-71. doi: 10.1093/cvr/cvv270. Epub 2015 Dec 16. Cardiovasc Res. 2016. PMID: 26676851

6

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

Gaertner A, Brodehl A, Milting H. Gaertner A, et al. Protein Cell. 2019 Jun;10(6):393-394. doi: 10.1007/s13238-018-0590-z. Protein Cell. 2019. PMID: 30421357 Free PMC article. No abstract available.

7

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: gaertner a. Genes (Basel). 2019 Nov 11;10(11):918. doi: 10.3390/genes10110918. Genes (Basel). 2019. PMID: 31718026 Free PMC article.

8

Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.

Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935

9

RBM20 mutations in left ventricular non-compaction cardiomyopathy.

Gaertner A, Klauke B, Brodehl A, Milting H. Gaertner A, et al. Pediatr Investig. 2020 Mar 17;4(1):61-63. doi: 10.1002/ped4.12184. eCollection 2020 Mar. Pediatr Investig. 2020. PMID: 32851345 Free PMC article. No abstract available.

10

The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients: Interim data from the MAP-IT study.

Tiesmeier J, Gaertner A, Homm S, Jakob T, Stanasiuk C, Bachmann-Mennenga B, Henzler D, Grautoff S, Veit G, Hori E, Kellner U, Gummert JF, Hitz MP, Kostareva A, Klingel K, Paluszkiewicz L, Laser KT, Pfeiffer H, Fox H, Milting H. Tiesmeier J, et al. Among authors: gaertner a. Resuscitation. 2021 Nov;168:176-185. doi: 10.1016/j.resuscitation.2021.07.042. Epub 2021 Aug 10. Resuscitation. 2021. PMID: 34389451 Free article.

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