The role of histone acetylation in memory formation and cognitive impairments

L Peixoto, T Abel - Neuropsychopharmacology, 2013 - nature.com
Long-term memory formation requires transcription and protein synthesis. Over the past few
decades, a great amount of knowledge has been gained regarding the molecular players …

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

D Milani, FMP Manzoni, L Pezzani, P Ajmone… - Italian Journal of …, 2015 - Springer
Abstract Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal
dominant genetic disease, with an estimated prevalence of one case per 125,000 live births …

Genetic syndromes caused by mutations in epigenetic genes

M Berdasco, M Esteller - Human genetics, 2013 - Springer
The orchestrated organization of epigenetic factors that control chromatin dynamism,
including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin …

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

P Fergelot, M Van Belzen, J Van Gils… - American Journal of …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other …

[HTML][HTML] Insight into the molecular genetics of myopia

J Li, Q Zhang - Molecular vision, 2017 - ncbi.nlm.nih.gov
Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

G Negri, D Milani, P Colapietro, F Forzano… - Clinical …, 2015 - Wiley Online Library
Rubinstein‐Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder
characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features …

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

F Cucco, P Sarogni, S Rossato, M Alpa… - American Journal of …, 2020 - Wiley Online Library
Abstract Cornelia de Lange syndrome (CdLS), Rubinstein–Taybi syndrome (RSTS), and
KBG syndrome are three distinct developmental human disorders. Variants in seven genes …

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

MN Loviglio, M Leleu, K Männik, M Passeggeri… - Molecular …, 2017 - nature.com
Copy number variants (CNVs) are major contributors to genomic imbalance disorders.
Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal …

Lysine acetylation and deacetylation in brain development and neuropathies

A Tapias, ZQ Wang - Genomics, Proteomics and Bioinformatics, 2017 - academic.oup.com
Embryonic development is critical for the final functionality and maintenance of the adult
brain. Brain development is tightly regulated by intracellular and extracellular signaling …

Ultra-rare syndromes: the example of Rubinstein–Taybi syndrome

S Spena, C Gervasini, D Milani - Journal of pediatric genetics, 2015 - thieme-connect.com
Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and
neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous …