The role of histone acetylation in memory formation and cognitive impairments
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 …
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 …
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 …
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 …
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 …
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 …
characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features …
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
Abstract Cornelia de Lange syndrome (CdLS), Rubinstein–Taybi syndrome (RSTS), and
KBG syndrome are three distinct developmental human disorders. Variants in seven genes …
KBG syndrome are three distinct developmental human disorders. Variants in seven genes …
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Copy number variants (CNVs) are major contributors to genomic imbalance disorders.
Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal …
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 …
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 …
neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous …