Copy number variants in autism spectrum disorders

S Vicari, E Napoli, V Cordeddu, D Menghini… - Progress in Neuro …, 2019 - Elsevier
In recent years, there has been an explosive increase in genetic studies related to autism
spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular …

Regulation of hematopoietic development by ZBTB transcription factors

T Maeda - International journal of hematology, 2016 - Springer
Hematopoietic development is governed by the coordinated expression of lineage-and
differentiation stage-specific genes. Transcription factors play major roles in this process and …

Lessons learned from additional research analyses of unsolved clinical exome cases

MK Eldomery, Z Coban-Akdemir, T Harel… - Genome medicine, 2017 - Springer
Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

A genomic history of Aboriginal Australia

AS Malaspinas, MC Westaway, C Muller, VC Sousa… - Nature, 2016 - nature.com
The population history of Aboriginal Australians remains largely uncharacterized. Here we
generate high-coverage genomes for 83 Aboriginal Australians (speakers of Pama …

Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability

K Tatton-Brown, C Loveday, S Yost, M Clarke… - The American Journal of …, 2017 - cell.com
To explore the genetic architecture of human overgrowth syndromes and human growth
control, we performed experimental and bioinformatic analyses of 710 individuals with …

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

M Gabriele, AT Vulto-van Silfhout, PL Germain… - The American Journal of …, 2017 - cell.com
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in
normal development and malignancy. YY1 acts both as a repressor and as an activator of …

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

F Martínez, A Caro-Llopis, M Roselló, S Oltra… - Journal of medical …, 2017 - jmg.bmj.com
Background Intellectual disability is a very complex condition where more than 600 genes
have been reported. Due to this extraordinary heterogeneity, a large proportion of patients …

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

M Niceta, E Stellacci, KW Gripp, G Zampino… - The American Journal of …, 2015 - cell.com
Transcription factors operate in developmental processes to mediate inductive events and
cell competence, and perturbation of their function or regulation can dramatically affect …

Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging

E Flex, S Martinelli, A Van Dijck, A Ciolfi… - The American Journal of …, 2019 - cell.com
Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is
precisely controlled to guarantee efficient compaction of the genome and proper …

Dysfunctional microRNA-144-3p/ZBTB20/ERK/CREB1 signalling pathway is associated with MK-801-induced schizophrenia-like abnormalities

B Pan, B Han, X Zhu, Y Wang, H Ji, J Weng, Y Liu - Brain Research, 2023 - Elsevier
Schizophrenia is a group of severe mental disorders. ZBTB20 is critical in brain
development and corticogenesis and its dysfunction induces various neural disorders …