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Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.

Overview

Authors: Eric C. Larsen1, Jennifer E. Moon1, Oliver D. King1, Jeanne B. Lawrence1,2
  1. Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
  2. Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA 01605, USA
Journal: American journal of human genetics, volume 113, issue 4, pages 715-735
Dates: received 18 July 2025; accepted 16 February 2026; published online 13 March 2026; in print 2 April 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1016/j.ajhg.2026.02.014 · PMID 41831439 · PMCID PMC13087474 · OpenAlex W7135208879
Open access: hybrid, a free copy (OpenAlex)
Status: code on request
Categories: genetics / omics (modality), human (organism), other condition (population), cellular / molecular (subfield)
Keywords: eQTL polymorphisms, epigenetics, cellular genomics, Down syndrome, osteoarthritis, chromosome silencing by XIST RNA, pluripotent stem cells
MeSH: Epigenesis, Genetic*, Gene Dosage*, Gene Silencing*, Polymorphism, Genetic*, CpG Islands, DNA Methylation, Humans, Induced Pluripotent Stem Cells, Promoter Regions, Genetic, Quantitative Trait Loci, RNA, Long Noncoding (* major topic)
Topic: Protein Degradation and Inhibitors (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: NICHD (R01HD091357, R01HD094788); NIGMS (R35GM122597); F31 fellowships (F31HD106741A, F31HD095588)
Citations: cited by 1 paper (Europe PMC); 151 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Data

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Code and data availability statement

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Read it in the paper: doi.org/10.1016/j.ajhg.2026.02.014.

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Version 1, 30 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 4 authors, 7 keywords, 11 MeSH terms, 3 funders, 149 references.

Cite

This paper

Larsen, E. C., Moon, J. E., King, O. D., & Lawrence, J. B. (2026). Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B. American journal of human genetics, 113(4), 715-735. https://doi.org/10.1016/j.ajhg.2026.02.014

BibTeX

@article{larsen2026selective,
author = {Larsen, Eric C. and Moon, Jennifer E. and King, Oliver D. and Lawrence, Jeanne B.},
title = {{Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B}},
journal = {American journal of human genetics},
year = {2026},
month = mar,
volume = {113},
number = {4},
pages = {715--735},
publisher = {Elsevier},
issn = {0002-9297},
doi = {10.1016/j.ajhg.2026.02.014},
url = {https://doi.org/10.1016/j.ajhg.2026.02.014},
pmid = {41831439},
pmcid = {PMC13087474}
}

RIS

TY - JOUR
AU - Larsen, Eric C.
AU - Moon, Jennifer E.
AU - King, Oliver D.
AU - Lawrence, Jeanne B.
TI - Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B
T2 - American journal of human genetics
J2 - Am J Hum Genet
PY - 2026
DA - 2026/03/13
VL - 113
IS - 4
SP - 715
EP - 735
SN - 0002-9297
PB - Elsevier
DO - 10.1016/j.ajhg.2026.02.014
UR - https://doi.org/10.1016/j.ajhg.2026.02.014
LA - en
ER -

CSL-JSON

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