Histone posttranslational modifications are key regulators of chromatin-associated processes including gene expression, DNA replication and DNA repair. Monoubiquitinated …
JJ Volpe, TE Inder, BT Darras, LS de Vries… - 2017 - books.google.com
A clear, engaging writing style, hundreds of full-color images, and new information throughout make Volpe's Neurology of the Newborn, 6th Edition, an indispensable resource …
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation …
P Heyn, CV Logan, A Fluteau, RC Challis… - Nature …, 2019 - nature.com
DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes …
B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism spectrum disorders (ASD), are a large group of disorders in which early insults during brain …
Background Embryonic lethality is a recognized phenotypic expression of individual gene mutations in model organisms. However, identifying embryonic lethal genes in humans is …
F Jean, A Stuart, M Tarailo-Graovac - Frontiers in neurology, 2020 - frontiersin.org
Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain …
S Zaqout, AM Kaindl - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
Microcephaly or reduced head circumference results from a multitude of abnormal developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …
Importance The Consortium on the Genetics of Schizophrenia (COGS) uses quantitative neurophysiological and neurocognitive endophenotypes with demonstrated deficits in …