News

Ab 2. November finden Sie das Kinderspital Zürich an neuer Adresse.

Künftig wird die hochstehende medizinische und pflegerische ...

Joubert Syndrome gene dysfunction in zebrafish leads to abnormal brain cilia, altered transcription of neuron-associated genes and abnormal ...

De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), ...

While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched ...

The contribution of splicing variants to molecular diagnostics of inherited diseases is reported to be less than 10%. 

Ein Gen namens ZNRF3, das bei Krebs eine Rolle spielt, bringt auch das Gehirn durcheinander. Ist eine der beiden Gen-Kopien defekt, wird das ...

Alterations in the X-linked recessive DMD gene cause dystrophinopathies with a broad clinical spectrum most commonly ranging ...

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain ...

Background
Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of ...

To present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy.

To support clinical decision making, all five Swiss academic institutions for Medical Genetics joined forces with the Swiss Institute of ...

The purpose of this study was to assess the added diagnostic value of whole genome sequencing (WGS) for patients with inherited retinal ...

Ruxandra Bachmann-Gagescu wurde Oktober 2023 als ausserordentliche Doppel-Professorin für Entwicklungsgenetik am Institut für Molekularbiologie ...

Background

We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), ...

Deubiquitination is critical for the proper functioning of numerous biological pathways such as DNA repair, cell cycle progression, ...

Cilia defects lead to scoliosis in zebrafish, but the underlying pathogenic mechanisms are poorly understood and may diverge depending on the ...

Anoctamins are a family of Ca2+-activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of ...

To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported ...

The physical interactome of a protein can be altered upon perturbation, modulating cell physiology and contributing to disease. Identifying ...

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 ...