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Paper · 21150893

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L and 5 others. Eur J Hum Genet, 2011. Cited by 39 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. Papers, record 21150893. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/21150893

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.
PubMed
Journal
Eur J Hum Genet
PubMed
Year
2011
PubMed
Publication types
Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
Citations, by iCite
39
iCite
Relative citation ratio, by iCite
1.12
iCite
Revised in PubMed
2021-10-20
PubMed

Authors6

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

OrderAuthorForenameKindORCID iD
1Doucette LLance
2Green JJane
3Fernandez BBridget
4Johnson GJGordon J
5Parfrey PPatrick
6Young TLTerry-Lynn

Source PubMed

Topics21

NLM's MeSH indexing of the paper, its major topics first.

MeSH termMajor
Forkhead Transcription FactorsMajor topic
Point MutationMajor topic
Adult
Aged
Alleles
Anterior Eye Segment
Cataract
Child
Corneal Opacity
Eye Abnormalities
Female
Follow-Up Studies
Haploinsufficiency
Humans
Lens, Crystalline
Male
Middle Aged
Newfoundland and Labrador
Phenotype
Sequence Analysis, DNA
Young Adult

Source PubMed

Grants0

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

None in this release.

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References34

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

OrderPMIDTitleJournalYearIn PapersSource
118,798,333Mutation analysis of B3GALTL in Peters Plus syndrome.Am J Med Genet A2008https://conductscience.org/library/papers/18798333PubMed
216,604,058Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.Mol Vis2006https://conductscience.org/library/papers/16604058PubMed
310,051,017A mutation in the RIEG1 gene associated with Peters' anomaly.J Med Genet1999https://conductscience.org/library/papers/10051017PubMed
410,080,188Prox1 function is crucial for mouse lens-fibre elongation.Nat Genet1999https://conductscience.org/library/papers/10080188PubMed
519,708,017Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.Hum Mutat2009https://conductscience.org/library/papers/19708017PubMed
617,106,362Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).J Glaucoma2006https://conductscience.org/library/papers/17106362PubMed
78,162,071Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.Nat Genet1994https://conductscience.org/library/papers/8162071PubMed
816,636,655The PITX3 gene in posterior polar congenital cataract in Australia.Mol Vis2006https://conductscience.org/library/papers/16636655PubMed
917,724,170Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.Invest Ophthalmol Vis Sci2007https://conductscience.org/library/papers/17724170PubMed
1011,403,040Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.J Med Genet2001https://conductscience.org/library/papers/11403040PubMed

1 to 10 of 34

See all 34 references

Cited by27

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 39 citations.

PMIDTitleJournalYearIn PapersSource
42,839,971From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Front Epigenet Epigenom2026https://conductscience.org/library/papers/42839971PubMed
42,510,817Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics.Genes (Basel)2026https://conductscience.org/library/papers/42510817PubMed
41,597,181Single-Cell RNA-Seq Reveals Conserved Cellular Communication Mechanisms Governing Ocular Lineage Specification from Human iPS Cells.Cells2026https://conductscience.org/library/papers/41597181PubMed
41,556,340A predictive framework for stop-loss variants with C-terminal extensions.Nucleic Acids Res2026https://conductscience.org/library/papers/41556340PubMed
40,427,049Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.Biomedicines2025https://conductscience.org/library/papers/40427049PubMed
39,448,564Suppressive cancer nonstop extension mutations increase C-terminal hydrophobicity and disrupt evolutionarily conserved amino acid patterns.Nat Commun2024https://conductscience.org/library/papers/39448564PubMed
39,097,141Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Prog Retin Eye Res2024https://conductscience.org/library/papers/39097141PubMed
33,273,802A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.Mol Vis2020https://conductscience.org/library/papers/33273802PubMed
32,719,554A pan-cancer analysis reveals nonstop extension mutations causing SMAD4 tumour suppressor degradation.Nat Cell Biol2020https://conductscience.org/library/papers/32719554PubMed
30,762,128Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Hum Genet2019https://conductscience.org/library/papers/30762128PubMed

1 to 10 of 27

See all 27 cited by

Genes1

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

GeneNCBI Gene IDLinked byIn Genes
FOXE32,301PubTator's text mininghttps://conductscience.org/library/genes/2301

Source NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed
2026-11-06
PubMed
iCite
2026-11-05
iCite
PMC's ID file
2026-11-05
PMC's ID file
NIH RePORTER's grant and paper links
2026-11-01
NIH RePORTER's grant and paper links
Trials
2026-11-12
Gene search
2026-11-11
Pipelines
2026-09-18

Sources 11

  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • HGNCCC0
  • iCiteCC BY 4.0
  • NCBI GenePublic domain (US government)
  • NIH RePORTER's grant and paper linksPublic domain
  • Open TargetsCC0 1.0
  • PMC's ID filePublic domain (US government)
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • HGNCCC0: https://www.genenames.org/about/license/
  • iCiteCC BY 4.0
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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