More about Network Migration 19 Apr 2024 Network Migration We would like to inform you that the institute will carry out a migration of the internal and external network from 1 May till noon 2 May. More about Network Migration
More about Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease 21 Mar 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 ... More about Olfactory Receptor OR2K2 Expression in Human Choroid Plexus as a Potential Marker in Early Sporadic Alzheimer’s Disease
More about Easter Closing 20 Mar 2024 Easter Closing The institute is closed from Thursday, 28 March, 16:00, until Easter Monday, 1 April. Please note that we will ... More about Easter Closing
More about E-mail Outage of 8th of March 2024 10 Mar 2024 E-mail Outage of 8th of March 2024 The Institute of Medical Genetics experienced an email outage. This has now been resolved. More information can be found in this article. ... More about E-mail Outage of 8th of March 2024
More about SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation 27 Feb 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 ... More about SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
More about Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction 22 Feb 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 ... More about Astrogliosis and Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction
More about Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry 15 Feb 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 ... More about Historic characteristics and mortality of patients in the Swiss Amyloidosis Registry
More about Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system 15 Feb 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 ... More about Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
More about Identification of the DNA methylation signature of Mowat-Wilson syndrome 13 Feb 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 ... More about Identification of the DNA methylation signature of Mowat-Wilson syndrome
More about Molecular and Phenotypic Characterization of the RORB-Related Disorder 23 Jan 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 ... More about Molecular and Phenotypic Characterization of the RORB-Related Disorder
More about Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies 16 Jan 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 ... More about Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
More about Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies. 8 Jan 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, ... More about Unveiling DNA methylation in Alzheimer’s disease: a review of array-based human brain studies.
More about Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor 2 Jan 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 ... More about Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor
More about Publication of 01/12/2023 1 Dec 2023 Publication of 01/12/2023 Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development and ... More about Publication of 01/12/2023
More about Swiss-Korean Life Science Symposium 12 Oct 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 ... More about Swiss-Korean Life Science Symposium
More about On Thursday 5th of October 2023 our company outing will take place and the institute will be closed. 5 Oct 2023 On Thursday 5th of October 2023 our company outing will take place and the institute will be closed. NOTICE: On 05/10/2023 our company outing will take place and the institute will be closed. The institute phone will not be ... More about On Thursday 5th of October 2023 our company outing will take place and the institute will be closed.
More about A computational framework for the inference of protein complex remodeling from whole-proteome measurements. 25 Sep 2023 A computational framework for the inference of protein complex remodeling from whole-proteome measurements. Protein complexes are responsible for the enactment of most cellular functions. For the protein complex to form and function, its subunits ... More about A computational framework for the inference of protein complex remodeling from whole-proteome measurements.
More about Exploring endometriosis: a surprisingly common disease 13 Sep 2023 Exploring endometriosis: a surprisingly common disease Summary: - Endometriosis is a common chronic inflammatory disease affecting one in ten menstruating women. - Symptoms include painful ... More about Exploring endometriosis: a surprisingly common disease
More about Now the man is also decoded (Article in German) 7 Sep 2023 Now the man is also decoded (Article in German) Das Y-Chromosom gibt viele Rätsel auf, nun konnte man es erstmals komplett lesen. Mit Genetikerin Anita Rauch. ... More about Now the man is also decoded (Article in German)
More about KBG Syndrome Article 16 Aug 2023 KBG Syndrome Article Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature More about KBG Syndrome Article
