Stefan Diederich
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View article: Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications
Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications Open
Direct RNA sequencing (DRS) is a Nanopore-based technique for analyzing RNA in its native form. This technique promises breakthroughs in diagnostics and biomarker development. Coupled to RNA002 sequencing chemistry, its clinical implementa…
View article: Single-cell chromatin landscape and DNA methylation patterns reveal shared molecular programs in human tumor and non-tumor tissue CCR8<sup>+</sup>Treg cells
Single-cell chromatin landscape and DNA methylation patterns reveal shared molecular programs in human tumor and non-tumor tissue CCR8<sup>+</sup>Treg cells Open
Regulatory T (Treg) cells, a subset of CD4 + T cells, play a crucial role in immunoregulation. Notably, CCR8-expressing Treg cells in tissues also contribute to organ homeostasis and repair. To determine whether these tissue-regenerative p…
View article: Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis Open
Canavan disease (CD) is a rare autosomal recessive leukodystrophy caused by biallelic pathogenic variants in the ASPA gene. CD is characterized by developmental delay, macrocephaly, and abnormal muscle tone. The biochemical diagnosis is co…
View article: Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications
Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications Open
Direct RNA sequencing (DRS) is a nanopore-based technique for analyzing RNA in its native form, promising breakthroughs in diagnostics and biomarker development. Coupled to RNA002 sequencing chemistry, its clinical implementation has been …
View article: A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing
A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing Open
Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome. In a…
View article: Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications
Direct RNA sequencing enables improved transcriptome assessment and tracking of RNA modifications for medical applications Open
Direct RNA sequencing (DRS) is a nanopore-based technique for analyzing RNA in its native form, promising breakthroughs in diagnostics and biomarker development. Coupled to RNA002 sequencing chemistry, its clinical implementation has been …
View article: Dynamic X-chromosomal reactivation enhances female brain resilience
Dynamic X-chromosomal reactivation enhances female brain resilience Open
Summary While random X-chromosome inactivation in female cells of placental mammalians silences one allele of the majority of X-chromosomal genes, a considerable fraction is only incompletely and variably inactivated resulting in a tissue-…
View article: Quantitative longitudinal natural history of eight gangliosidoses – conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis
Quantitative longitudinal natural history of eight gangliosidoses – conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis Open
Purpose Gangliosidoses are a group of inherited neurogenetic autosomal recessive lysosomal storage disorders usually presenting with progressive macrocephaly, developmental delay and regression, leading to significant morbidity, and premat…
View article: First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association Open
Childhood glaucoma is a heterogeneous disease and can be associated with various genetic alterations. The aim of this study was to report first results of the phenotype–genotype relationship in a German childhood glaucoma cohort. Forty-nin…
View article: Radiological Monitoring of Modern Immunotherapy: A Novel Challenge for Interdisciplinary Patient Care
Radiological Monitoring of Modern Immunotherapy: A Novel Challenge for Interdisciplinary Patient Care Open
Background Immunotherapy represents an effective therapeutic approach for many malignant diseases that were previously difficult to treat. However, since immunotherapy can lead to atypical therapy response patterns in the form of pseudo-pr…
View article: Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders Open
For the families in whom causative variants could be identified, these may now be used for prenatal and preimplantation genetic diagnostics. Our data show that NGS based gene panel sequencing of selected genes involved in lethal autosomal …
View article: Additional file 1: Table S1. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Additional file 1: Table S1. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders Open
List of the 430 genes investigated in the couples. Additional file listing the 430 genes for severe AR and XL disorders investigated in the couples (XLS 142 kb)
View article: Isolated Splenic Metastasis from Non-Small-Cell Lung Cancer: A Case Report and Review of the Literature
Isolated Splenic Metastasis from Non-Small-Cell Lung Cancer: A Case Report and Review of the Literature Open
Metastases to the spleen are rare but have been reported for different tumor entities, including breast cancer, lung cancer, colorectal cancer, ovarian cancer, and melanoma. As an isolated event, splenic metastasis from non-small-cell lung…