Paper · 29314435

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D and 3 others. Hum Mutat, 2018. Cited by 63 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Papers, record 29314435. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/29314435

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Paper

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

Title: Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.; PubMed
Journal: Hum Mutat; PubMed
Year: 2018; PubMed
Publication types: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/29314435/; PubMed
DOI: https://doi.org/10.1002/humu.23395; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC5839989/; PubMed
The journal: https://conductscience.org/library/journal-index/9215429; PubMed
Citations, by iCite: 63; iCite
Relative citation ratio, by iCite: 2.77; iCite
Revised in PubMed: 2024-03-14; PubMed

Authors4

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

Order	Author	Forename	ORCID iD
1	Anand D	Deepti
2	Agrawal SA	Smriti A
3	Slavotinek A	Anne
4	Lachke SA	Salil A	https://orcid.org/0000-0001-8845-010X

Source PubMed

Topics14

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

MeSH term	Major
Cataract	Major topic
Eye Abnormalities	Major topic
Forkhead Transcription Factors	Major topic
Growth Disorders	Major topic
Hearing Loss, Sensorineural	Major topic
Heat Shock Transcription Factors	Major topic
Homeodomain Proteins	Major topic
Intellectual Disability	Major topic
Proto-Oncogene Proteins c-maf	Major topic
Transcription Factors	Major topic
Animals
Facies
Humans
Mutation

Source PubMed

Grants1

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.

Grant, as the record writes it	Agency	Country	NIH project	Stated by
R01 EY021505	NEI NIH HHS	United States	R01EY021505	PubMed and NIH

Source NIH RePORTER

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.

References129

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

Order	PMID	Title	Journal	Year	In Papers	Source
1	16,826,526	Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.	Am J Hum Genet	2006	https://conductscience.org/library/papers/16826526	PubMed
2	27,218,149	FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.	Nat Commun	2016	https://conductscience.org/library/papers/27218149	PubMed
3	15,343,150	The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1.	Mol Vis	2004	https://conductscience.org/library/papers/15343150	PubMed
4	21,150,893	A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.	Eur J Hum Genet	2011	https://conductscience.org/library/papers/21150893	PubMed
5	28,418,495	Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.	Invest Ophthalmol Vis Sci	2017	https://conductscience.org/library/papers/28418495	PubMed
6	9,038,383	Rat maf related genes: specific expression in chondrocytes, lens and spinal cord.	Oncogene	1997	https://conductscience.org/library/papers/9038383	PubMed
7	21,730,847	Genetics of anterior segment dysgenesis disorders.	Curr Opin Ophthalmol	2011	https://conductscience.org/library/papers/21730847	PubMed
8	26,310,156	Molecular Genetics of Cataract.	Prog Mol Biol Transl Sci	2015	https://conductscience.org/library/papers/26310156	PubMed
9	10,861,284	Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.	Hum Mol Genet	2000	https://conductscience.org/library/papers/10861284	PubMed
10	10,890,982	Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation.	Genesis	2000	https://conductscience.org/library/papers/10890982	PubMed

1 to 10 of 129

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Cited by47

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 63 citations.

PMID	Title	Journal	Year	In Papers	Source
42,848,741	Genome-Wide Evolution of Lineage-Specific Chromatin Accessibility Links Regulatory Changes to Cichlid Phenotypic Diversity.	Genome Biol Evol	2026	https://conductscience.org/library/papers/42848741	PubMed
42,577,652	Mapping of CELF1-RNA interactions reveals post-transcriptional control of lens development.	NAR Mol Med	2026	https://conductscience.org/library/papers/42577652	PubMed
42,342,841	Comprehensive analysis of interactions between brain aging and late-onset psychoses using heuristic mapping models.	Commun Med (Lond)	2026	https://conductscience.org/library/papers/42342841	PubMed
42,194,952	Myodes rufocanus Cataract Identification and Transcriptome Analysis.	Genes (Basel)	2026	https://conductscience.org/library/papers/42194952	PubMed
41,822,754	Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.	Front Genet	2026	https://conductscience.org/library/papers/41822754	PubMed
41,770,736	Characterization of a spontaneous microphthalmia-like mutant mouse with isolated ocular defects.	PLoS One	2026	https://conductscience.org/library/papers/41770736	PubMed
41,608,432	Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology.	Front Med (Lausanne)	2025	https://conductscience.org/library/papers/41608432	PubMed
41,542,625	Mapping of CELF1-RNA interactions reveals post-transcriptional control of lens development.	bioRxiv	2026	https://conductscience.org/library/papers/41542625	PubMed
40,457,168	A guide to heat shock factors as multifunctional transcriptional regulators.	FEBS J	2025	https://conductscience.org/library/papers/40457168	PubMed
40,321,225	The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.	Clin Case Rep	2025	https://conductscience.org/library/papers/40321225	PubMed

1 to 10 of 47

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Genes12

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

Gene	NCBI Gene ID	Linked by	In Genes	Source
BCL2L13	23,786	PubTator's text mining	https://conductscience.org/library/genes/23786	NCBI Gene
CAPN3	825	PubTator's text mining	https://conductscience.org/library/genes/825	NCBI Gene
CAVIN2	8,436	PubTator's text mining	https://conductscience.org/library/genes/8436	NCBI Gene
CDKN1C	1,028	PubTator's text mining	https://conductscience.org/library/genes/1028	NCBI Gene
CTSG	1,511	PubTator's text mining	https://conductscience.org/library/genes/1511	NCBI Gene
FOXE3	2,301	PubTator's text mining	https://conductscience.org/library/genes/2301	NCBI Gene
HSF4	3,299	PubTator's text mining	https://conductscience.org/library/genes/3299	NCBI Gene
IL6	3,569	PubTator's text mining	https://conductscience.org/library/genes/3569	NCBI Gene
MAF	4,094	PubTator's text mining	https://conductscience.org/library/genes/4094	NCBI Gene
PAX6	5,080	PubTator's text mining	https://conductscience.org/library/genes/5080	NCBI Gene

1 to 10 of 12

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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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