[HTML][HTML] Familial syndromes involving meningiomas provide mechanistic insight into sporadic disease

K Kerr, K Qualmann, Y Esquenazi, J Hagan… - Neurosurgery, 2018 - ncbi.nlm.nih.gov
Currently, there is an incomplete understanding of the molecular pathogenesis of
meningiomas, the most common primary brain tumor. Several familial syndromes are …

Mechanism of action of the SWI/SNF family complexes

K Chen, J Yuan, Y Sia, Z Chen - Nucleus, 2023 - Taylor & Francis
DNA wraps around histone octamers to assemble nucleosomes, which pack into high-
ordered chromatin structure in the nucleus, and block access to the genetic material. The …

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

MJ Smith, J O'Sullivan, SS Bhaskar, KD Hadfield… - Nature …, 2013 - nature.com
One-third of all primary central nervous system tumors in adults are meningiomas. Rarely,
meningiomas occur at multiple sites, usually occurring in individuals with type 2 …

REST and CoREST modulate neuronal subtype specification, maturation and maintenance

JJ Abrajano, IA Qureshi, S Gokhan, D Zheng… - PloS one, 2009 - journals.plos.org
Background The repressor element-1 silencing transcription factor/neuron-restrictive
silencer factor (REST/NRSF) is a master regulator of neuronal gene expression. REST …

[HTML][HTML] Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay

K Machol, J Rousseau, S Ehresmann, T Garcia… - The American Journal of …, 2019 - cell.com
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin
remodeling BAF (BRG1-associated factor) complex and plays a crucial role in …

Insights into role of bromodomain, testis-specific (Brdt) in acetylated histone H4-dependent chromatin remodeling in mammalian spermiogenesis

S Dhar, A Thota, MRS Rao - Journal of Biological Chemistry, 2012 - ASBMB
Mammalian spermiogenesis is of considerable biological interest especially due to the
unique chromatin remodeling events that take place during spermatid maturation. Here, we …

RhoJ regulates melanoma chemoresistance by suppressing pathways that sense DNA damage

H Ho, J Aruri, R Kapadia, H Mehr, MA White… - Cancer research, 2012 - AACR
Melanomas resist conventional chemotherapeutics, in part, through intrinsic disrespect of
apoptotic checkpoint activation. In this study, using an unbiased genome-wide RNA …

The intellectual disability and schizophrenia associated transcription factor TCF4 is regulated by neuronal activity and protein kinase A

M Sepp, H Vihma, K Nurm, M Urb, SC Page… - Journal of …, 2017 - Soc Neuroscience
Transcription factor 4 (TCF4 also known as ITF2 or E2-2) is a basic helix-loop-helix (bHLH)
protein associated with Pitt–Hopkins syndrome, intellectual disability, and schizophrenia …

Isoform diversity and regulation in peripheral and central neurons revealed through RNA-Seq

JK Lerch, F Kuo, D Motti, R Morris, JL Bixby… - PloS one, 2012 - journals.plos.org
To fully understand cell type identity and function in the nervous system there is a need to
understand neuronal gene expression at the level of isoform diversity. Here we applied Next …

mRNA isoform balance in neuronal development and disease

GR LaForce, P Philippidou… - Wiley Interdisciplinary …, 2023 - Wiley Online Library
Balanced mRNA isoform diversity and abundance are spatially and temporally regulated
throughout cellular differentiation. The proportion of expressed isoforms contributes to cell …