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Article

Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.

Nature communications - 17 Nov 2020

Cicconi Alessandro, Rai Rekha, Xiong Xuexue, Broton Cayla, Al-Hiyasat Amer, Hu Chunyi, Dong Siying, Sun Wenqi, Garbarino Jennifer, Bindra Ranjit S, Schildkraut Carl, Chen Yong, Chang Sandy

Abstract excerpt

Telomeres protect chromosome ends from inappropriately activating the DNA damage and repair responses. Primary microcephaly is a key clinical feature of several human telomere disorder syndromes, but how microcephaly is linked to dysfunctional telomeres is not known. Here, we show that the microcephalin 1/BRCT-repeats inhibitor of hTERT (MCPH1/BRIT1) protein, mutated in primary microcephaly, specifically...

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Identifiers

PMID: 33203878
DOI: 10.1038/s41467-020-19674-0
PMCID: PMC7672075

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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