Mehr zu Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy 11.07.2024 Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy To present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy. Mehr zu Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Mehr zu SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland 17.06.2024 SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland To support clinical decision making, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of ... Mehr zu SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland
Mehr zu Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort 13.06.2024 Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal ... Mehr zu Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
Mehr zu Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt 05.06.2024 Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt Ruxandra Bachmann-Gagescu wurde Oktober 2023 als ausserordentliche Doppel-Professorin für Entwicklungsgenetik am Institut für Molekularbiologie ... Mehr zu Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt
Mehr zu Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 30.05.2024 Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), ... Mehr zu Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Mehr zu De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features 16.05.2024 De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, ... Mehr zu De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Mehr zu Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction 14.05.2024 Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction Cilia defects lead to scoliosis in zebrafish, but the underlying pathogenic mechanisms are poorly understood and may diverge depending on the ... Mehr zu Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
Mehr zu Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect 13.05.2024 Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect Anoctamins are a family of Ca2+-activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of ... Mehr zu Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
Mehr zu DPF2-related Coffin-Siris syndrome type 7 in two generations 06.05.2024 DPF2-related Coffin-Siris syndrome type 7 in two generations To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported ... Mehr zu DPF2-related Coffin-Siris syndrome type 7 in two generations
Mehr zu Systematic identification of structure-specific protein–protein interactions 03.05.2024 Systematic identification of structure-specific protein–protein interactions The physical interactome of a protein can be altered upon perturbation, modulating cell physiology and contributing to disease. Identifying ... Mehr zu Systematic identification of structure-specific protein–protein interactions
Mehr zu Netzwerkumstellung 19.04.2024 Netzwerkumstellung Wir möchten Sie darüber informieren, dass das Institut am 1. Mai und bis 12 Uhr am 2. Mai eine Umstellung des in- und externen Netzwerks ... Mehr zu Netzwerkumstellung
Mehr zu Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease 21.03.2024 Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease Epithelial cells comprising the choroid plexus (CP) form a crucial barrier between the blood and the cerebrospinal fluid, thereby assuming ... Mehr zu Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease
Mehr zu Gründonnerstag ab 16.00 Uhr bis Ostermontag geschlossen 20.03.2024 Gründonnerstag ab 16.00 Uhr bis Ostermontag geschlossen Das Institut ist ab Gründonnerstag, 16.00 Uhr, bis und mit Ostermontag, 1. April, geschlossen. Bitte beachten sie ... Mehr zu Gründonnerstag ab 16.00 Uhr bis Ostermontag geschlossen
Mehr zu E-Mail Störung 10.03.2024 E-Mail Störung Das Institut für Medizinische Genetik hatte einen E-Mail-Störung. Dies ist nun behoben. Weitere Informationen finden Sie in diesem Artikel. ... Mehr zu E-Mail Störung
Mehr zu SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 27.02.2024 SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its ... Mehr zu SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Mehr zu Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction 22.02.2024 Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction Cilia defects lead to scoliosis in zebrafish, but the underlying pathogenic mechanisms are poorly understood and may diverge depending on the ... Mehr zu Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
Mehr zu Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies 20.02.2024 Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies This thesis aims to use bioinformatic approaches to elucidate the underlying genetic causes of three different diseases. Mehr zu Utilizing Genetic Linkage and Rare Variant Association Studies to Unravel Novel Disease Etiologies
Mehr zu Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry 15.02.2024 Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry Systemic amyloidoses are rare protein-folding diseases with heterogeneous, often nonspecific clinical presentations. To better understand ... Mehr zu Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
Mehr zu Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system 15.02.2024 Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system Joubert Syndrome (JBTS) is a neurodevelopmental ciliopathy defined by a highly specific midbrain-hindbrain malformation, variably associated ... Mehr zu Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
Mehr zu Identification of the DNA methylation signature of Mowat-Wilson syndrome 13.02.2024 Identification of the DNA methylation signature of Mowat-Wilson syndrome Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for ... Mehr zu Identification of the DNA methylation signature of Mowat-Wilson syndrome