Angelman syndrome results from mutations in the UBE3A gene on chromosome 15. This gene is crucial for brain development because it encodes a protein necessary for neuronal function. Normally ...

Created with Sketch. Angelman syndrome is caused by an over-expression of paternal imprinted genes and an under-expression of maternal ones on chromosome 15. Children with this genetic disorder ...

but lack features of RS owing to favorable skewing of X-chromosome inactivation. Females with features of Angelman syndrome represent the close clinical overlap during early childhood between the ...

Ionis has committed to a phase 3 programme for its antisense therapy for rare genetic disorder Angelman syndrome, just weeks after Biogen decided against exercising an option to license the drug.

We report on five unrelated patients with de novo terminal 9q34.3 microdeletions, including one patient with some clinical features resembling Opitz trigonocephaly C syndrome (OTCS). The deletion ...

Yourgene was acquired by Novacyt in September 2023, in a £16.7m deal.

especially if accompanied by other phenotypic features of the syndrome. Approximately 90% of 22q11.2DS cases result from de novo deletions within the long arm of chromosome 22, with critical low-copy ...

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, today announced the launch of IONA® Care+, a fully comprehensive non-invasive prenatal ...

mail.nih.gov Background Congenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the ...

Donald Kohn, Distinguished Professor of Microbiology, Immunology and Molecular Genetics and Director ... opportunities to those living with Angelman syndrome." Chris Luthers, lead scientist ...

Feb. 11, 2025 — Scientists have discovered that some tiny segments of RNA thought to be junk instead have a functional role in suppressing production of certain messenger RNAs and appear to help ...