Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cystinosis and two rare mutations in CTNS gene: two case reports.

Journal of medical case reports - 6 May 2022

Gholami Yarahmadi Sepideh, Sarlaki Fatemeh, Morovvati Saeid

Abstract excerpt

BACKGROUND: Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport. The responsible gene, Cystinosin, Lysosomal Cystine Transporter (CTNS), encodes the lysosomal cystine carrier cystinosin. CASE PRESENTATION: In this case report, we...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Transport Systems, Neutral
Share to Biomedical Research and Pathophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystine

Share to Cystinosis

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35513889
DOI: 10.1186/s13256-022-03379-7
PMCID: PMC9074344

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystinosis and two rare mutations in CTNS gene: two case reports.PMID 35513889Read ↗

Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case reportSemantic proximity Read ↗

Molecular Characterization of Tunisian Cystinosis Patients Reveals a High Prevalence of the c.829dup MutationSemantic proximity Read ↗

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

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

Cystinosis induced by CTNS gene mutation: a rare disease study.Semantic proximity Read ↗

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

CTNS mutations in patients with cystinosis.Semantic proximity Read ↗

Cystinosis in Eastern Turkey.Semantic proximity Read ↗

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

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

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.Semantic proximity Read ↗

Molecular Characterization of CNTS Mutations in Tunisian Patients with Ocular CystinosisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.