Paper · 11274232

Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

Igarashi T and 11 others. J Am Soc Nephrol, 2001. Cited by 87 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. Papers, record 11274232. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/11274232

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Paper

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

Title: Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.; PubMed
Journal: J Am Soc Nephrol; PubMed
Year: 2001; PubMed
Publication types: Case Reports, Journal Article, Research Support, Non-U.S. Gov't; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/11274232/; PubMed
DOI: https://doi.org/10.1681/asn.v124713; PubMed
The journal: https://conductscience.org/library/journal-index/9013836; PubMed
Citations, by iCite: 87; iCite
Relative citation ratio, by iCite: 2.03; iCite
Revised in PubMed: 2021-05-11; PubMed

Authors12

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

Order	Author	Forename
1	Igarashi T	Takashi
2	Inatomi J	Jun
3	Sekine T	Takashi
4	Seki G	George
5	Shimadzu M	Mitsunobu
6	Tozawa F	Fumiko
7	Takeshima Y	Yasuhiro
8	Takumi T	Toru
9	Takahashi T	Toshikazu
10	Yoshikawa N	Norishige

1 to 10 of 12Source PubMed

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Topics18

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

MeSH term	Major
Acidosis, Renal Tubular	Major topic
Carrier Proteins	Major topic
Codon, Nonsense	Major topic
Glaucoma	Major topic
Adult
Amino Acid Sequence
Base Sequence
DNA
DNA Restriction Enzymes
DNA, Complementary
Female
Humans
Lymphocytes
Pedigree
Polymerase Chain Reaction
RNA, Messenger
Reference Values
Sodium-Bicarbonate Symporters

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 by48

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 87 citations.

PMID	Title	Journal	Year	In Papers	Source
39,273,556	Left Ventricular Systolic Dysfunction in NBCe1-B/C-Knockout Mice.	Int J Mol Sci	2024	https://conductscience.org/library/papers/39273556	PubMed
38,536,494	The role of Na+-coupled bicarbonate transporters (NCBT) in health and disease.	Pflugers Arch	2024	https://conductscience.org/library/papers/38536494	PubMed
37,901,710	Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.	Kidney Dis (Basel)	2023	https://conductscience.org/library/papers/37901710	PubMed
37,405,134	NBCe1-B/C-knockout mice exhibit an impaired respiratory response and an enhanced renal response to metabolic acidosis.	Front Physiol	2023	https://conductscience.org/library/papers/37405134	PubMed
33,919,241	Influence of Trace Elements on Neurodegenerative Diseases of The Eye-The Glaucoma Model.	Int J Mol Sci	2021	https://conductscience.org/library/papers/33919241	PubMed
33,244,320	Selective Trafficking of Light Chain-Conjugated Nanoparticles to the Kidney and Renal Cell Carcinoma.	Nano Today	2020	https://conductscience.org/library/papers/33244320	PubMed
32,969,493	Carbonic anhydrases enhance activity of endogenous Na-H exchangers and not the electrogenic Na/HCO3 cotransporter NBCe1-A, expressed in Xenopus oocytes.	J Physiol	2020	https://conductscience.org/library/papers/32969493	PubMed
31,040,187	Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.	J Am Soc Nephrol	2019	https://conductscience.org/library/papers/31040187	PubMed
29,914,390	SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.	BMC Med Genet	2018	https://conductscience.org/library/papers/29914390	PubMed
29,449,648	The role of disease-linked residue glutamine-913 in support of the structure and function of the human electrogenic sodium/bicarbonate cotransporter NBCe1-A.	Sci Rep	2018	https://conductscience.org/library/papers/29449648	PubMed

1 to 10 of 48

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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
SLC4A4	8,671	PubTator's text mining	https://conductscience.org/library/genes/8671

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

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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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