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Article

Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.

Human molecular genetics - 1 Feb 2011

Gallenberger Martin, Meinel Dominik M, Kroeber Markus, Wegner Michael, Milkereit Philipp, Bösl Michael R, Tamm Ernst R

Abstract excerpt

Mutations in WD repeat domain 36 gene (WDR36) play a causative role in some forms of primary open-angle glaucoma, a leading cause of blindness worldwide. WDR36 is characterized by the presence of multiple WD40 repeats and shows homology to Utp21, an essential protein component of the yeast small subunit (SSU) processome required for maturation of 18S rRNA. To clarify the functional role of WDR36 in the mammalian...

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Source

Identifiers

PMID: 21051332
DOI: 10.1093/hmg/ddq478

Genes

BAX
PWP2

Provenance

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.

Related research

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Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.PMID 21051332Read ↗

The Primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathwaySemantic proximity Read ↗

Heterozygote Wdr36-deficient mice do not develop glaucoma.Semantic proximity Read ↗

Glaucoma-associated WDR36 variants encode functional defects in a yeast model system.Semantic proximity Read ↗

The DEAD box RNA helicase Ddx39a is essential for myocyte and lens development in zebrafishSemantic proximity Read ↗

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read ↗

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.Semantic proximity Read ↗

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.Semantic proximity Read ↗

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.Semantic proximity Read ↗

The DEAD-box RNA helicase Ddx39ab is essential for myocyte and lens development in zebrafish.Semantic proximity Read ↗

Perturbation of rRNA synthesis in the bap28 mutation leads to apoptosis mediated by p53 in the zebrafish central nervous system.Semantic proximity Read ↗

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processesSemantic proximity Read ↗

The Caenorhabditis elegans DDX-23, a homolog of yeast splicing factor PRP28, is required for the sperm-oocyte switch and differentiation of various cell types.Semantic proximity Read ↗

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