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Article

CTNS mutations in patients with cystinosis.

Human mutation - 1 Jan 1999

Anikster Y, Shotelersuk V, Gahl W A

Abstract excerpt

Cystinosis is an autosomal recessive lysosomal storage disease caused by mutations in the gene CTNS. The CTNS gene product, cystinosin, has 367 amino acids and seven transmembrane domains and is thought to transport cystine out of lysosomes. The most common form of cystinosis, the nephropathic or infantile type, is characterized by renal failure at 10 years of age and other systemic complications. To date, 32...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10571941
DOI: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H

Genes

CTNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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CTNS mutations in patients with cystinosis.PMID 10571941Read ↗

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.Semantic proximity Read ↗

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for RepairSemantic proximity Read ↗

Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosisSemantic proximity Read ↗

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisSemantic proximity Read ↗

Cystinosis and two rare mutations in CTNS gene: two case reports.Semantic proximity Read ↗

Nephropathic cystinosis: an update on genetic conditioning.Semantic proximity Read ↗

Genetic basis of cystinosis in Turkish patients: a single-center experience.Semantic proximity Read ↗

Characterization of CTNS mutations in Arab patients with cystinosis.Semantic proximity Read ↗

Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations.Semantic proximity Read ↗

Uncovering the Prevalence of Cystinosis through Genetic AnalysisSemantic proximity Read ↗

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.Semantic proximity Read ↗

Phenotypic variability in cystinosis: Lessons from an atypical case.Semantic proximity Read ↗

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