Rost S - Search Results

1

CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM).

Janz A, Zink M, Cirnu A, Hartleb A, Albrecht C, Rost S, Klopocki E, Günther K, Edenhofer F, Ergün S, Gerull B. Janz A, et al. Among authors: rost s. Stem Cell Res. 2021 May;53:102256. doi: 10.1016/j.scr.2021.102256. Epub 2021 Feb 18. Stem Cell Res. 2021. PMID: 33640690 Free article.

2

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.

Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B. Janz A, et al. Among authors: rost s. Stem Cell Res. 2020 Jul;46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2. Stem Cell Res. 2020. PMID: 32521499 Free article.

3

Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.

Cirnu A, Kolokotronis K, Walz K, Kilinç A, Janz A, Williams T, Busch A, Rost S, Gerull B. Cirnu A, et al. Among authors: rost s. Circ Genom Precis Med. 2021 Feb;14(1):e003217. doi: 10.1161/CIRCGEN.120.003217. Epub 2021 Feb 1. Circ Genom Precis Med. 2021. PMID: 33517666 No abstract available.

4

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.

Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B. Kolokotronis K, et al. Among authors: rost s. Hum Mutat. 2019 Aug;40(8):1101-1114. doi: 10.1002/humu.23757. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30924982

5

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Kolokotronis K, Pluta N, Klopocki E, Kunstmann E, Messroghli D, Maack C, Tejman-Yarden S, Arad M, Rost S, Gerull B. Kolokotronis K, et al. Among authors: rost s. J Clin Med. 2020 Jul 9;9(7):2168. doi: 10.3390/jcm9072168. J Clin Med. 2020. PMID: 32659924 Free PMC article.

6

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.

Kress W, Rost S, Kolokotronis K, Meng G, Pluta N, Müller-Reible C. Kress W, et al. Among authors: rost s. Neuropediatrics. 2017 Aug;48(4):242-246. doi: 10.1055/s-0037-1602660. Epub 2017 May 8. Neuropediatrics. 2017. PMID: 28482373 Review. No abstract available.

7

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Zaum AK, Kolokotronis K, Kress W, Goebel HH, Rost S, Seeger J. Zaum AK, et al. Among authors: rost s. Neuromuscul Disord. 2018 Aug;28(8):671-674. doi: 10.1016/j.nmd.2018.06.006. Epub 2018 Jun 20. Neuromuscul Disord. 2018. PMID: 30017359

8

ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.

Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S. Musacchio T, et al. Among authors: rost s. J Neurol. 2017 Jan;264(1):11-20. doi: 10.1007/s00415-016-8301-2. Epub 2016 Oct 13. J Neurol. 2017. PMID: 27738760

9

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

10

The identification of patient-specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild-type melanomas.

Appenzeller S, Gesierich A, Thiem A, Hufnagel A, Jessen C, Kneitz H, Regensburger M, Schmidt C, Zirkenbach V, Bischler T, Schilling B, Siedel C, Goebeler ME, Houben R, Schrama D, Gehrig A, Rost S, Maurus K, Bargou R, Rosenwald A, Schartl M, Goebeler M, Meierjohann S. Appenzeller S, et al. Among authors: rost s. Cancer. 2019 Feb 15;125(4):586-600. doi: 10.1002/cncr.31843. Epub 2018 Dec 18. Cancer. 2019. PMID: 30561760 Free article.

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