Dale John Annear on Muck Rack

Dale John Annear

As seen in: Nature, EBioMedicine
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Articles

An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice

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By Claudio D'Incal, Elisa Cappuyns, Dale John Annear
| EBioMedicine Verified
Keywords Helsmoortel-Van der Aa syndrome (HVDAS) Activity-Dependent Neuroprotective Protein (Adnp) Autism Epigenetics Chromatin architecture Evidence before this study Activity-Dependent Neuroprotective Protein (ADNP) is a chromatin-associated factor essential for neocortical neurogenesis.
Open in Who Shared Issue with article?

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome - European Journal of Human Genetics

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By Claudio Peter D’Incal, Mieke van Haelst, Ligia Mateiu, Dale John Annear, Anke Van Dijck
| Nature Verified
Abstract The majority of patients affected by fragile X syndrome (OMIM #300624), a common inherited form of autism spectrum disorders and intellectual disability, displays a CGG triplet repeat expansion in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene promotor, resulting in hypermethylation and epigenetic silencing of the associated FMRP protein.
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