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Article

Precise modulation of transcription factor levels identifies features underlying dosage sensitivity.

Nature genetics - 1 May 2023

Naqvi Sahin, Kim Seungsoo, Hoskens Hanne, Matthews Harold S, Spritz Richard A, Klein Ophir D, Hallgrímsson Benedikt, Swigut Tomek, Claes Peter, Pritchard Jonathan K, Wysocka Joanna

Abstract excerpt

Transcriptional regulation exhibits extensive robustness, but human genetics indicates sensitivity to transcription factor (TF) dosage. Reconciling such observations requires quantitative studies of TF dosage effects at trait-relevant ranges, largely lacking so far. TFs play central roles in both normal-range and disease-associated variation in craniofacial morphology; we therefore developed an approach to...

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Identifiers

PMID: 37024583
DOI: 10.1038/s41588-023-01366-2
PMCID: PMC10181932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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