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 …
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …
HIF has biff–crosstalk between HIF1a and the family of bHLH/PAS proteins
EL Button, DC Bersten, ML Whitelaw - Experimental cell research, 2017 - Elsevier
Two decades of research into functions of the ubiquitous transcription factor HIF have
revealed pervasive roles in development, oxygen homeostasis, metabolism, cancer and …
revealed pervasive roles in development, oxygen homeostasis, metabolism, cancer and …
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration
R Noordam, MM Bos, H Wang, TW Winkler… - Nature …, 2019 - nature.com
Both short and long sleep are associated with an adverse lipid profile, likely through different
biological pathways. To elucidate the biology of sleep-associated adverse lipid profile, we …
biological pathways. To elucidate the biology of sleep-associated adverse lipid profile, we …
Changes in chromatin state reveal ARNT2 at a node of a tumorigenic transcription factor signature driving glioblastoma cell aggressiveness
A Bogeas, G Morvan-Dubois, EA El-Habr… - Acta …, 2018 - Springer
Although a growing body of evidence indicates that phenotypic plasticity exhibited by
glioblastoma cells plays a central role in tumor development and post-therapy recurrence …
glioblastoma cells plays a central role in tumor development and post-therapy recurrence …
Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders
JJ Rossi, JA Rosenfeld, KM Chan, H Streff… - Scientific reports, 2021 - nature.com
Aberrations in the excitatory/inhibitory balance within the brain have been associated with
both intellectual disability (ID) and schizophrenia (SZ). The bHLH-PAS transcription factors …
both intellectual disability (ID) and schizophrenia (SZ). The bHLH-PAS transcription factors …
Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay
L Montagne, A Raimondo, B Delobel, B Duban‐Bedu… - …, 2014 - Wiley Online Library
Objective Several deletions of chromosome 6q, including SIM1, were reported in obese
patients with developmental delay. Furthermore, rare loss‐of‐function SIM1 mutations were …
patients with developmental delay. Furthermore, rare loss‐of‐function SIM1 mutations were …
Core and Flanking bHLH-PAS: DNA interactions mediate specificity and drive obesity
Abstract The basic-Helix-Loop-Helix Per-Arnt-Sim (PAS) homology domain (bHLH-PAS)
transcription factor (TF) family comprises critical biological sensors of physiological (hypoxia …
transcription factor (TF) family comprises critical biological sensors of physiological (hypoxia …
Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
EL Button, JJ Rossi, DP McDougal… - Biochemical …, 2022 - portlandpress.com
Single-minded 2 (SIM2) is a neuron-enriched basic Helix–Loop–Helix/PER–ARNT–SIM
(bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the …
(bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the …
MAGED 1 is a novel regulator of a select subset of bHLH PAS transcription factors
AE Sullivan, DJ Peet, ML Whitelaw - The FEBS journal, 2016 - Wiley Online Library
Transcription factors of the basic helix‐loop‐helix (bHLH) PER‐ARNT‐SIM (PAS) family
generally have critical and nonredundant biological roles, but some bHLH PAS proteins …
generally have critical and nonredundant biological roles, but some bHLH PAS proteins …
Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep …
R Noordam, MM Bos, H Wang, TW Winkler, AR Bentley… - bioRxiv, 2019 - biorxiv.org
Both short and long sleep are associated with an adverse lipid profile, likely through different
biological pathways. To provide new insights in the biology of sleep-associated adverse …
biological pathways. To provide new insights in the biology of sleep-associated adverse …