Paper · 20118786

Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.

Mehta JS and 8 others. Cornea, 2010. Cited by 16 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene. Papers, record 20118786. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/20118786

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Paper

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

Title: Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.; PubMed
Journal: Cornea; PubMed
Year: 2010; PubMed
Publication types: Journal Article; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/20118786/; PubMed
DOI: https://doi.org/10.1097/ico.0b013e3181ae9038; PubMed
The journal: https://conductscience.org/library/journal-index/8216186; PubMed
Citations, by iCite: 16; iCite
Relative citation ratio, by iCite: 0.5; iCite
Revised in PubMed: 2010-02-24; PubMed

Authors9

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

Order	Author	Forename
1	Mehta JS	Jodhbir Singh
2	Hemadevi B	Boomiraj
3	Vithana EN	Eranga N
4	Arunkumar J	Jambulingam
5	Srinivasan M	Muthaiah
6	Prajna V	Venkatesh
7	Tan DT	Donald T
8	Aung T	Tin
9	Sundaresan P	Periasamy

Source PubMed

Topics20

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

MeSH term	Major
Anion Transport Proteins	Major topic
Antiporters	Major topic
Corneal Dystrophies, Hereditary	Major topic
Endothelium, Corneal	Major topic
Hearing Loss, Sensorineural	Major topic
Mutation	Major topic
Adolescent
Audiometry
Child
Child, Preschool
Female
Genotype
Humans
Keratoplasty, Penetrating
Male
Pedigree
Phenotype
Retrospective Studies
Reverse Transcriptase Polymerase Chain Reaction
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.

References0

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

None in this release.

Cited by12

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 16 citations.

PMID	Title	Journal	Year	In Papers	Source
40,563,515	SLC4A11 Revisited: Isoforms, Expression, Functions, and Unresolved Questions.	Biomolecules	2025	https://conductscience.org/library/papers/40563515	PubMed
40,225,920	Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.	Hum Mutat	2024	https://conductscience.org/library/papers/40225920	PubMed
37,787,991	Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.	Transl Vis Sci Technol	2023	https://conductscience.org/library/papers/37787991	PubMed
35,985,662	Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.	Mol Genet Genomic Med	2022	https://conductscience.org/library/papers/35985662	PubMed
34,637,099	SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.	Mol Biol Rep	2021	https://conductscience.org/library/papers/34637099	PubMed
32,884,076	Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.	J Hum Genet	2021	https://conductscience.org/library/papers/32884076	PubMed
26,451,371	SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.	Biomed Res Int	2015	https://conductscience.org/library/papers/26451371	PubMed
25,007,886	Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.	J Hum Genet	2014	https://conductscience.org/library/papers/25007886	PubMed
24,351,571	Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.	Cornea	2014	https://conductscience.org/library/papers/24351571	PubMed
23,589,833	The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters.	Physiol Rev	2013	https://conductscience.org/library/papers/23589833	PubMed

1 to 10 of 12

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Genes1

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
SLC4A11	83,959	PubTator's text mining	https://conductscience.org/library/genes/83959

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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