(Q35088312)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

review article

1 reference

title

New aspects of the pathogenesis of cystinosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Corinne Antignac

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Vasiliki Kalatzis

series ordinal

1

1 reference

6 August 2017

Corinne Antignac

series ordinal

2

1 reference

6 August 2017

publication date

27 February 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

207-215

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12644911%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00467-003-1077-5

1 November 2019

exact match

0 references

cites work

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)

1 reference

12 December 2020

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

1 reference

12 December 2020

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region

1 reference

12 December 2020

Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives

1 reference

12 December 2020

Homologues of archaeal rhodopsins in plants, animals and fungi: structural and functional predications for a putative fungal chaperone protein

1 reference

12 December 2020

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

1 reference

12 December 2020

CTNS mutations in an American-based population of cystinosis patients

1 reference

12 December 2020

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

1 reference

12 December 2020

Lysosomal cystine transport. Effect of intralysosomal pH and membrane potential

1 reference

12 December 2020

The Fanconi syndrome with cystinossis. Electron microscopy of renal biopsy specimens from five patients

1 reference

12 December 2020

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis

1 reference

12 December 2020

Intracellular trafficking of lysosomal membrane proteins.

1 reference

12 December 2020

Characterization of the lysosomal cystine transport system in mouse L-929 fibroblasts

1 reference

12 December 2020

The molecular basis of Dutch infantile nephropathic cystinosis

1 reference

12 December 2020

Ocular changes in long-term evolution of infantile cystinosis

1 reference

12 December 2020

Proton-translocating ATPase and lysosomal cystine transport

1 reference

12 December 2020

Mutations of CTNS causing intermediate cystinosis

1 reference

12 December 2020

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

1 reference

12 December 2020

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

1 reference

12 December 2020

Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis

1 reference

12 December 2020

ATP-dependent lysosomal cystine efflux is defective in cystinosis

1 reference

12 December 2020

Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for Cystinosis

1 reference

12 December 2020

Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal?

1 reference

12 December 2020

Lysosomal storage diseases

1 reference

12 December 2020

Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.

1 reference

12 December 2020

Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)

1 reference

12 December 2020

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

12 December 2020

Increased free-cystine content of fibroblasts cultured from patients with cystinosis

1 reference

12 December 2020

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

1 reference

12 December 2020

Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis

1 reference

12 December 2020

Cystinosis. An ultrastructural and electron-probe study of the kidney with unusual findings

1 reference

12 December 2020

Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester

1 reference

12 December 2020

Cystine exodus from normal leucocytes is stimulated by MgATP.

1 reference

12 December 2020

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations

1 reference

12 December 2020

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis

1 reference

12 December 2020

Immunolocalization of cystinosin, the protein defective in cystinosis

1 reference

12 December 2020

Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins

1 reference

12 December 2020

Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data

1 reference

12 December 2020

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion

1 reference

12 December 2020

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

1 reference

12 December 2020

Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.

1 reference

12 December 2020

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population

1 reference

12 December 2020

Lysosomal transport disorders

1 reference

12 December 2020

CTNS mutations in African American patients with cystinosis

1 reference

12 December 2020

Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosis

1 reference

12 December 2020

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation

1 reference

12 December 2020

Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions

1 reference

12 December 2020

Infantile cystinosis in France: genetics, incidence, geographic distribution

1 reference

12 December 2020

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns

1 reference

12 December 2020

Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro

1 reference

12 December 2020

Ophthalmologic involvement in inherited renal disease

1 reference

12 December 2020