GenomicsbioRxivPreprint
Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeats
DOI 10.64898/2025.12.22.696056
Author
Xiangduo Kong
University of California, IrvineORCID 0000-0003-4735-3316Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2019-2025 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 38 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship6 papers
Recent·Most cited
- GeneticsbioRxivPreprint
Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD
Xiangduo Kong, Nam Viet Nguyen, Yumeng Li…·Kyoko Yokomori
The paper uses engineered human myoblasts to show that D4Z4 heterochromatin disruption and DUX4 network activation are key in FSHD.
DOI 10.1101/2022.10.14.512332 - GenomicsbioRxivPreprint
Muscle group specific transcriptomic and DNA methylation differences related to developmental patterning in FSHD
Katherine Williams, Xiangduo Kong, Nam Viet Nguyen…·Ali Mortazavi
The paper identifies muscle group-specific transcriptomic and DNA methylation differences in FSHD that relate to developmental patterning and disease susceptibility.
3 citations - GeneticsHuman MutationPeer-reviewed
Relationship of DUX4 and target gene expression in FSHD myocytes
Jonathan Chau, Xiangduo Kong, Nam Viet Nguyen…·Kyoko Yokomori
The paper uses RNA FISH to study DUX4 and its target gene expression dynamics in FSHD patient myocytes, revealing a unique expression pattern and self-sustaining target gene network.
22 citations - GenomicsPLoS GeneticsPeer-reviewed
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei
Shan Jiang, Katherine Williams, Xiangduo Kong…·Ali Mortazavi
The paper uses single-nucleus RNA-seq to identify two distinct populations of FSHD2 myotube nuclei with different transcriptional profiles related to DUX4 expression.
- Molecular BiologybioRxivPreprint
The cohesin loader NIPBL interacts with pre-ribosomal RNA and treacle to regulate ribosomal RNA synthesis
Xiangduo Kong, Yen-Yun Chen, Jianhuang Lin…·Kyoko Yokomori
This study identifies NIPBL's interaction with RNA and treacle in regulating pre-rRNA transcription and nucleolar organization.
3 citations