Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination

R Zug - Biology Open, 2022 - journals.biologists.com
Many human birth defects and neurodevelopmental disorders are caused by loss-of-function
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …

Molecular networks of the FOXP2 transcription factor in the brain

J Den Hoed, K Devaraju, SE Fisher - EMBO reports, 2021 - embopress.org
The discovery of the FOXP2 transcription factor, and its implication in a rare severe human
speech and language disorder, has led to two decades of empirical studies focused on …

Uncovering the genetic architecture of broad antisocial behavior through a genome-wide association study meta-analysis

JJ Tielbeek, E Uffelmann, BS Williams… - Molecular …, 2022 - nature.com
Despite the substantial heritability of antisocial behavior (ASB), specific genetic variants
robustly associated with the trait have not been identified. The present study by the Broad …

Cross-disorder genomics data analysis elucidates a shared genetic basis between major depression and osteoarthritis pain

S Barowsky, JY Jung, N Nesbit, M Silberstein… - Frontiers in …, 2021 - frontiersin.org
Osteoarthritis (OA) and major depression (MD) are two debilitating disorders that frequently
co-occur and affect millions of the elderly each year. Despite the greater symptom severity …

Foxp2 Is Required for Nucleus Accumbens-mediated Multifaceted Limbic Function

BH He, YH Yang, BW Hsiao, WT Lin, YF Chuang… - Neuroscience, 2024 - Elsevier
The forkhead box protein P2 (Foxp2), initially identified for its role in speech and language
development, plays an important role in neural development. Previous studies investigated …

DNA facilitates heterodimerization between human transcription factors FoxP1 and FoxP2 by increasing their conformational flexibility

R Coñuecar, I Asela, M Rivera, P Galaz-Davison… - Iscience, 2023 - cell.com
Transcription factors regulate gene expression by binding to DNA. They have disordered
regions and specific DNA-binding domains. Binding to DNA causes structural changes …

Link between short tandem repeats and translation initiation site selection

M Arabfard, K Kavousi, A Delbari, M Ohadi - Human genomics, 2018 - Springer
Background Despite their vast biological implication, the relevance of short tandem repeats
(STRs)/microsatellites to the protein-coding gene translation initiation sites (TISs) remains …

Changing and stable chromatin accessibility supports transcriptional overhaul during neural stem cell activation and is altered with age

SY Maybury‐Lewis, AK Brown, M Yeary… - Aging …, 2021 - Wiley Online Library
Neural stem cells (NSCs) in the adult and aged brain are largely quiescent, and require
transcriptional reprogramming to re‐enter the cell cycle. However, the mechanisms …

Transcriptional Enhancers in the FOXP2 Locus Underwent Accelerated Evolution in the Human Lineage

AL Caporale, CM Gonda… - Molecular biology and …, 2019 - academic.oup.com
Unique human features, such as complex language, are the result of molecular evolutionary
changes that modified developmental programs of our brain. The human-specific evolution …

[PDF][PDF] Genomics of speech and language disorders

J Guerra, R Cacabelos - J. Transl. Genet. Genom, 2019 - pdfs.semanticscholar.org
Multiple factors involve speech and language. Investigating animal models, mainly through
songbirds, has allowed a better understanding of the verbal communication process …