Genome organization around nuclear speckles

Y Chen, AS Belmont - Current opinion in genetics & development, 2019 - Elsevier
Higher eukaryotic cell nuclei are highly compartmentalized into bodies and structural
assemblies of specialized functions. Nuclear speckles/IGCs are one of the most prominent …

Alternative splicing: the pledge, the turn, and the prestige: the key role of alternative splicing in human biological systems

LM Gallego-Paez, MC Bordone, AC Leote… - Human genetics, 2017 - Springer
Alternative pre-mRNA splicing is a tightly controlled process conducted by the spliceosome,
with the assistance of several regulators, resulting in the expression of different transcript …

Mapping 3D genome organization relative to nuclear compartments using TSA-Seq as a cytological ruler

Y Chen, Y Zhang, Y Wang, L Zhang… - Journal of Cell …, 2018 - rupress.org
While nuclear compartmentalization is an essential feature of three-dimensional genome
organization, no genomic method exists for measuring chromosome distances to defined …

Regulation of DEAH-box RNA helicases by G-patch proteins

KE Bohnsack, R Ficner, MT Bohnsack… - Biological Chemistry, 2021 - degruyter.com
RNA helicases of the DEAH/RHA family form a large and conserved class of enzymes that
remodel RNA protein complexes (RNPs) by translocating along the RNA. Driven by ATP …

SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activity

JH Kim, K Jeong, J Li, JM Murphy, L Vukadin… - Nature …, 2021 - nature.com
While dysregulation of RNA splicing has been recognized as an emerging target for cancer
therapy, the functional significance of RNA splicing and individual splicing factors in brain …

SON is an essential m6A target for hematopoietic stem cell fate

H Luo, M Cortés-López, CL Tam, M Xiao, I Wakiro… - Cell Stem Cell, 2023 - cell.com
Stem cells regulate their self-renewal and differentiation fate outcomes through both
symmetric and asymmetric divisions. m 6 A RNA methylation controls symmetric commitment …

Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins

KE Regan-Fendt, K Izumi - Human genetics, 2024 - Springer
Nuclear speckles are small, membrane-less organelles that reside within the nucleus.
Nuclear speckles serve as a regulatory hub coordinating complex RNA metabolism steps …

[HTML][HTML] The future: genetics advances in MEN1 therapeutic approaches and management strategies

SK Agarwal - Endocrine-related cancer, 2017 - ncbi.nlm.nih.gov
The identification of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997 has
shown that germline heterozygous mutations in the MEN1 gene located on chromosome …

De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome

JH Kim, DN Shinde, MRF Reijnders, NS Hauser… - The American Journal of …, 2016 - cell.com
The overall understanding of the molecular etiologies of intellectual disability (ID) and
developmental delay (DD) is increasing as next-generation sequencing technologies …

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

AJM Dingemans, KMG Truijen, JH Kim… - European Journal of …, 2022 - nature.com
Abstract Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome, an intellectual disability syndrome
first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its …