Genes, Free Full-Text
Por um escritor misterioso
Last updated 15 março 2025

KMT2A (Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. KMT2A has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. KMT2A germinal mutations are associated to Wiedemann–Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin–Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubinstein–Taybi syndrome), sharing an overlapping phenotype. On the other hand, KMT2A somatic mutations have been reported in several tumors, mainly blood malignancies. Due to its evolutionary conservation, the role of KMT2A in embryonic development, hematopoiesis and neurodevelopment has been explored in different animal models, and in recent decades, epigenetic treatments for disorders linked to KMT2A dysfunction have been extensively investigated. To note, pharmaceutical compounds acting on tumors characterized by KMT2A mutations have been formulated, and even nutritional interventions for chromatinopathies have become the object of study due to the role of microbiota in epigenetic regulation.

Annals of Human Genetics - Wiley Online Library

Genetic Alteration and Their Significance on Clinical Events

Multi-context genetic modeling of transcriptional regulation

Correlation between genomic profiling of cell-free DNA (cfDNA) and

Inferring Phylogenies Felsenstein Pdf Download - Colaboratory

Cs 1.6 Lj Cj Script - Colaboratory

Listen Free to Dirty Genes: A Breakthrough Program to Treat the

Genes, Free Full-Text

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

IJMS, Free Full-Text

PDF) Gene family assignment-free comparative genomics

The Gene: An Intimate History by Siddhartha Mukherjee

Characterization of genetic lesions in apoptosis-regulating and

Genes, Free Full-Text
Recomendado para você
-
Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf15 março 2025
-
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews15 março 2025
-
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf15 março 2025
-
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect15 março 2025
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes15 março 2025
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics15 março 2025
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein15 março 2025
-
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly15 março 2025
-
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update15 março 2025
-
(PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly15 março 2025
você pode gostar
-
Prison Escape Games - Adventur APK for Android Download15 março 2025
-
Chess: Praggnanandhaa loses to Carlsen in World Cup final : The Tribune India15 março 2025
-
Assistir Oshi no Ko (My Star) Episódio 9 Legendado - Animex HD15 março 2025
-
Crazy, Stupid Love15 março 2025
-
Digimon Adventure Visuais adultos dos protagonistas são revelados15 março 2025
-
Pokémon - Mewtwo-EX (52/108) - Evoluções XY - Holo15 março 2025
-
5 Best Telegram bots for groups15 março 2025
-
Metal Hero Jaspion / Juspion (artwork by Thiago Spyked on ArtStation) : r/Tokusatsu15 março 2025
-
Requisitos del sistema Red Dead Redemption 215 março 2025
-
Steam Workshop::omo_whitespace [OMORI MAP]15 março 2025