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Article

The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology.

Human molecular genetics - 29 Jul 2020

Barnum Carrie E, Al Saai Salma, Patel Shaili D, Cheng Catherine, Anand Deepti, Xu Xiaolu, Dash Soma, Siddam Archana D, Glazewski Lisa, Paglione Emily, Polson Shawn W, Chuma Shinichiro, Mason Robert W, Wei Shuo, Batish Mona, Fowler Velia M, Lachke Salil A

Abstract excerpt

Mutations of the RNA granule component TDRD7 (OMIM: 611258) cause pediatric cataract. We applied an integrated approach to uncover the molecular pathology of cataract in Tdrd7-/- mice. Early postnatal Tdrd7-/- animals precipitously develop cataract suggesting a global-level breakdown/misregulation of key cellular processes. High-throughput RNA sequencing integrated with iSyTE-bioinformatics analysis identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32420594
DOI: 10.1093/hmg/ddaa096
PMCID: PMC7390939

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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