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 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 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 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
Mehr zu Molecular and Phenotypic Characterization of the RORB-Related Disorder 23.01.2024 Molecular and Phenotypic Characterization of the RORB-Related Disorder Heterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic ... Mehr zu Molecular and Phenotypic Characterization of the RORB-Related Disorder
Mehr zu Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies 16.01.2024 Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations ... Mehr zu Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Mehr zu Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies. 08.01.2024 Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies. The intricacies of Alzheimer’s disease pathogenesis are being increasingly illuminated by the exploration of epigenetic mechanisms, ... Mehr zu Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies.
Mehr zu Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor 02.01.2024 Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor Somatic variants in the NOTCH pathway regulator FBXW7 are frequently seen in a variety of malignancies. Read this publication online in the ... Mehr zu Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor
Mehr zu Publikation von 01.12.2023 01.12.2023 Publikation von 01.12.2023 Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development and ... Mehr zu Publikation von 01.12.2023
Mehr zu Swiss-Korean Life Science Symposium 12.10.2023 Swiss-Korean Life Science Symposium UZH researchers Anita Rauch and Michael Baudis were invited to the 2023 Swiss-Korean Life Science Symposium, a testament to their impactful ... Mehr zu Swiss-Korean Life Science Symposium
Mehr zu Am 05.10.2023 findet unser Betriebsausflug statt und das Institut bleibt geschlossen. 05.10.2023 Am 05.10.2023 findet unser Betriebsausflug statt und das Institut bleibt geschlossen. Das Institutstelefon wird an diesem Tag nicht bedient und Ihre Emails können nicht beantwortet werden. Anmeldungen oder Anfragen werden ab ... Mehr zu Am 05.10.2023 findet unser Betriebsausflug statt und das Institut bleibt geschlossen.