The ongoing SARS-CoV-2 pandemic has already caused devastating losses. Exponential
spread can be slowed by social distancing and population-wide isolation measures, but those …

Background: A chromosomal locus at 4q32.1 has been genome-wide significantly associated
with coronary artery disease risk. The locus encompasses GUCY1A3, which encodes the …

Frequent testing of large population groups combined with contact tracing and isolation
measures will be crucial for containing Coronavirus Disease 2019 outbreaks. Here we present …

Background The genetic aetiology of neurodevelopmental defects is extremely diverse, and
the lack of distinctive phenotypic features means that genetic criteria are often required for …

Objective We aim to characterize the causality and molecular and functional underpinnings
of HACE1 deficiency in a mouse model of a recessive neurodevelopmental syndrome called …

Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic
migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit …

THAP1 encodes a transcription factor but its regulation is largely elusive. TOR1A was
shown to be repressed by THAP1 in vitro. Notably, mutations in both of these genes lead to …

Thanatos-associated protein domain containing, apoptosis-associated protein 1 (THAP1), the
gene mutated in DYT6 dystonia, encodes a transcription factor. While the N-terminal THAP …

Mutations in the THAP1 gene encoding the transcription factor THAP1 have been shown to
cause DYT6 dystonia. THAP1 contains a highly conserved THAP zinc finger at its N-terminal …

Simpson–Golabi–Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities,
pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of …