Genes, Free Full-Text
Por um escritor misterioso
Last updated 19 março 2025

The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively. To date, 500 pathogenic variants have been reported for the CREBBP gene and 118 for EP300. These two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition. Because of the clinical heterogeneity of this syndrome ranging from the typical clinical diagnosis to features overlapping with other Mendelian disorders of the epigenetic machinery, phenotype/genotype correlations remain difficult to establish. In this context, the deciphering of the patho-physiological process underlying these diseases and the definition of a specific episignature will likely improve the diagnostic efficiency but also open novel therapeutic perspectives. This review summarizes the current clinical and molecular knowledge and highlights the epigenetic regulation of RSTS as a model of chromatinopathy.

Genes, Free Full-Text

Genes, Free Full-Text

Genemapper Software Free Trial - Colaboratory

Weighted correlation network and differential expression analyses

Philosophies, Free Full-Text

Genome - Wikipedia

Genes, Free Full-Text

Stream Download❤️eBook✓ Recombinant DNA: Genes and Genomes - A

Genes, Free Full-Text

Joinmap 4.1 Get File - Colaboratory

Genes Free Will And Human Identity - Audio Slider

Genes, Free Full-Text
Genetic Genie: Free Raw DNA Data Analysis and MTHFR

Download All Genomes From Ncbi In Super Computer - Colaboratory
Recomendado para você
-
Rubinstein–Taybi syndrome - Wikipedia19 março 2025
-
Rubinstein Taybi Syndrome - MEDizzy19 março 2025
-
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome19 março 2025
-
Long-term results following osteotomy of the thumb delta phalanx19 março 2025
-
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural19 março 2025
-
Rubinstein-Taybi syndrome: Treatments and life expectancy19 março 2025
-
Clinical photos of the patients. (a) Case 1: Dysmorphic facial19 março 2025
-
IJMS, Free Full-Text19 março 2025
-
Keloids in Rubinstein–Taybi syndrome: a clinical study - Kar19 março 2025
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine19 março 2025
você pode gostar
-
Barbie as the Island Princess PS2 Gameplay HD (PCSX2)19 março 2025
-
anime #hunterxhunter #gon #killuazoldyck #kaito #meruem #Pitou #dubla19 março 2025
-
Chess Grandmasters Obsess Over Gambits, Endgames—and Chairs - WSJ19 março 2025
-
Dragon Ball Heroes - Episódio 25 - Animes Online19 março 2025
-
Apple Silicon Macs now natively support Unreal Engine 519 março 2025
-
The most-picked champion at MSI 2022 Group Stage also has the lowest win rate19 março 2025
-
Suicide Squad: Hell To Pay is now available on Digital - DC Comics News19 março 2025
-
Bebê Reborn, Menino, Realista, , Frete Grátis. 12x S/ Juros19 março 2025
-
Monke listening music (by me) : r/ShingekiNoKyojin19 março 2025
-
Made In Abyss: Retsujitsu No Ougonkyou (Season 2: VOL.1 - 12 End) ~ All Region ~19 março 2025