Janine Altmüller
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View article: Astrocytic-OTUD7B ameliorates murine experimental autoimmune encephalomyelitis by stabilizing glial fibrillary acidic protein and preventing inflammation
Astrocytic-OTUD7B ameliorates murine experimental autoimmune encephalomyelitis by stabilizing glial fibrillary acidic protein and preventing inflammation Open
View article: Unraveling the single cell spatial landscapes of melanoma brain metastases
Unraveling the single cell spatial landscapes of melanoma brain metastases Open
Summary The cellular composition that defines the tumor ecosystem plays a crucial role in determining the response of tumors to immune checkpoint inhibitors (ICi) and to pharmacological blockade of BRAF (BRAFi). However, the compositional …
View article: SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis Open
As a major component of intracellular trafficking, the coat protein complex II (COPII) is indispensable for cellular function during embryonic development and throughout life. The 4 SEC24 proteins (A-D) are essential COPII components invol…
View article: Thick ascending limb injury critically impacts kidney allograft survival after T-cell-mediated rejection
Thick ascending limb injury critically impacts kidney allograft survival after T-cell-mediated rejection Open
T-cell mediated rejection (TCMR) remains a significant challenge after kidney transplantation and is associated with reduced allograft outcome. Previous research highlighted the critical role of TCMR-induced renal epithelial injury. Yet, t…
View article: The deubiquitinase OTUD7B ameliorates central nervous system autoimmunity by inhibiting degradation of glial fibrillary acidic protein and astrocyte hyperinflammation
The deubiquitinase OTUD7B ameliorates central nervous system autoimmunity by inhibiting degradation of glial fibrillary acidic protein and astrocyte hyperinflammation Open
Astrocytes are central to the pathogenesis of multiple sclerosis; however, their regulation by intrinsic post-translational ubiquitination and deubiquitination is unresolved. This study shows that the deubiquitinating enzyme OTUD7B in astr…
View article: Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer Open
Importance Subgroup definitions for possible deescalation of neoadjuvant cancer treatment are urgently needed in clinical practice. Objective To investigate the effect of BRCA1 and/or BRCA2 tumor pathogenic variants (tPVs) by comparing 2 d…
View article: Effective Inhibitor Removal from Wastewater Samples Increases Sensitivity of RT-dPCR and Sequencing Analyses and Enhances the Stability of Wastewater-Based Surveillance
Effective Inhibitor Removal from Wastewater Samples Increases Sensitivity of RT-dPCR and Sequencing Analyses and Enhances the Stability of Wastewater-Based Surveillance Open
Wastewater-based surveillance (WBS) is a proven tool for monitoring population-level infection events. Wastewater contains high concentrations of inhibitors, which contaminate the total nucleic acids (TNA) extracted from these samples. We …
View article: <i>TERT</i> Expression and Clinical Outcome in Pulmonary Carcinoids
<i>TERT</i> Expression and Clinical Outcome in Pulmonary Carcinoids Open
PURPOSE The clinical course of pulmonary carcinoids ranges from indolent to fatal disease, suggesting that specific molecular alterations drive progression toward the fully malignant state. A similar spectrum of clinical phenotypes occurs …
View article: A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa
A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Open
Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of an inherited skin disorder. RDEB segregates both in an autosomal dominant as well as in an autosomal recessive pattern. It has been shown that both forms of dy…
View article: Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater
Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater Open
Wastewater contains an extensive reservoir of genetic information, yet largely unexplored. Here, we analyzed by high-throughput sequencing total nucleic acids extracted from wastewater samples collected during a 17 month-period in Berlin, …
View article: Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome Open
Noonan syndrome patients harboring causative variants in LZTR1 are particularly at risk to develop severe and early-onset hypertrophic cardiomyopathy. In this study, we investigate the mechanistic consequences of a homozygous variant LZTR1…
View article: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Open
View article: Plasma Circulating Tumor DNA Sequencing Reveals the Landscape of Acquired Mutations in Patients with Hepatocellular Carcinoma: a Potential Predictive Value in Liquid Biopsy
Plasma Circulating Tumor DNA Sequencing Reveals the Landscape of Acquired Mutations in Patients with Hepatocellular Carcinoma: a Potential Predictive Value in Liquid Biopsy Open
Background Recent advances in circulating tumor DNA (ctDNA) analysis offer a promising approach for diagnosing and monitoring hepatocellular carcinoma (HCC). This study focused on the potential clinical role of ctDNA analysis in HCC manage…
View article: The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression
The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression Open
Introduction: Coagulation Factor VIII (FVIII) plays a pivotal role in the coagulation cascade, and deficiencies in its levels, as seen in Hemophilia A, can lead to significant health implications. Liver sinusoidal endothelial cells (LSECs)…
View article: VoltRon: A Spatial Omics Analysis Platform for Multi-Resolution and Multi-omics Integration using Image Registration
VoltRon: A Spatial Omics Analysis Platform for Multi-Resolution and Multi-omics Integration using Image Registration Open
The growing number of spatial omic technologies have created a demand for computational tools capable of managing, storing, and analyzing spatial datasets with multiple modalities and spatial resolutions. Meanwhile, computer vision is beco…
View article: Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver
Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver Open
Tissues within an organism and even cell types within a tissue can age with different velocities. However, it is unclear whether cells of one type experience different aging trajectories within a tissue depending on their spatial location.…
View article: XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes
XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes Open
Co-transcriptional RNA-DNA hybrids can not only cause DNA damage threatening genome integrity but also regulate gene activity in a mechanism that remains unclear. Here, we show that the nucleotide excision repair factor XPF interacts with …
View article: Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions Open
View article: The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans Open
View article: S236: HIGH-BREADTH SEQUENCING OF CIRCULATING TUMOR DNA IDENTIFIES NOVEL CLASSIFICATION OF HODGKIN LYMPHOMA
S236: HIGH-BREADTH SEQUENCING OF CIRCULATING TUMOR DNA IDENTIFIES NOVEL CLASSIFICATION OF HODGKIN LYMPHOMA Open
Background: Hodgkin lymphoma (HL) arises from transformed B-cells and is one of the most frequent malignancies in young adults. Current clinical challenges include long-term side effects of front-line therapies and difficult-to-treat relap…
View article: Potential Contribution of Ancient Introgression to the Evolution of a Derived Reproductive Strategy in Ricefishes
Potential Contribution of Ancient Introgression to the Evolution of a Derived Reproductive Strategy in Ricefishes Open
Transitions from no parental care to extensive care are costly and involve major changes in life history, behavior, and morphology. Nevertheless, in Sulawesi ricefishes, pelvic brooding evolved from transfer brooding in two distantly relat…
View article: Single-copy orthologous genes used for Ricefish phylogeny
Single-copy orthologous genes used for Ricefish phylogeny Open
Ortholog set We generated a reference set consisting of 8390 single-copy protein-coding genes derived from OrthoDB v.9.1 (Waterhouse et al., 2013) available for the following species: Austrofundulus limnaeus, Centrocoris variegatus, Fu…
View article: Assembly data files Oryzias dopingdopingensis
Assembly data files Oryzias dopingdopingensis Open
Identification and masking of repetitive elements in the genome sequence of O. dopingdopingensis was performed with the following bioinformatic tool case. Nucleotides were masked using the DUST algorithm with dustmasker (version 1…
View article: Single-copy orthologous genes used for Ricefish phylogeny
Single-copy orthologous genes used for Ricefish phylogeny Open
Ortholog set We generated a reference set consisting of 8390 single-copy protein-coding genes derived from OrthoDB v.9.1 (Waterhouse et al., 2013) available for the following species: Austrofundulus limnaeus, Centrocoris variegatus, Fu…
View article: Assembly data files Oryzias dopingdopingensis
Assembly data files Oryzias dopingdopingensis Open
Identification and masking of repetitive elements in the genome sequence of O. dopingdopingensis was performed with the following bioinformatic tool case. Nucleotides were masked using the DUST algorithm with dustmasker (version 1…
View article: Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation Open
Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overla…
View article: Germline <i>C1GALT1C1</i> mutation causes a multisystem chaperonopathy
Germline <i>C1GALT1C1</i> mutation causes a multisystem chaperonopathy Open
Mutations in genes encoding molecular chaperones can lead to chaperonopathies, but none have so far been identified causing congenital disorders of glycosylation. Here we identified two maternal half-brothers with a novel chaperonopathy, c…
View article: The Fate of Oxidative Strand Breaks in Mitochondrial DNA
The Fate of Oxidative Strand Breaks in Mitochondrial DNA Open
Mitochondrial DNA (mtDNA) is particularly vulnerable to somatic mutagenesis. Potential mechanisms include DNA polymerase γ (POLG) errors and the effects of mutagens, such as reactive oxygen species. Here, we studied the effects of transien…
View article: The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued Open
View article: Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia
Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia Open
In chronic lymphocytic leukemia (CLL), epigenetic alterations are considered to centrally shape the transcriptional signatures that drive disease evolution and that underlie its biological and clinical subsets. Characterizations of epigene…