(Q36666949)

15 August 2017

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping (English)

1 reference

Abderhalden–Kaufmann–Lignac syndrome

15 August 2017

1 reference

1 reference

Vincent Morinière

2

0 references

Aude Servais

object named as

Aude Servais

1

0 references

Corinne Antignac

object named as

Corinne Antignac

7

0 references

Jean-Michel Goujon

5

object named as

Jean-Michel Goujon

1 reference

15 August 2017

4

Laure-Hélène Noël

1 reference

15 August 2017

3

Jean-Pierre Grünfeld

1 reference

15 August 2017

Bernadette Chadefaux-Vekemans

6

1 reference

15 August 2017

1 January 2008

1 reference

Clinical Journal of the American Society of Nephrology

15 August 2017

1 reference

15 August 2017

3

1 reference

15 August 2017

1

1 reference

15 August 2017

27-35

1 reference

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Early oral cysteamine therapy for nephropathic cystinosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

CTNS mutations in patients with cystinosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Mutations of CTNS causing intermediate cystinosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Glomerulonephritis in late-onset cystinosis. Report of two cases and review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Intra-leukocyte cystine in cystinosis treated with cysteamine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Cystinosis in adolescence - clinical and histopathological study

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Late diagnosis of cystinosis in 2 brothers: histological and ultrastructural renal study

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

End-stage renal failure as manifestation of adolescent cystinosis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Comparison of cross-sectional renal function measurements in African Americans with hypertensive nephrosclerosis and of primary formulas to estimate glomerular filtration rate

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2390982

Mesangial IgG glomerulonephritis: a distinct type of primary glomerulonephritis

20 September 2018

1 reference

12 December 2020

Glomerular lesions in patients with late-onset cystinosis with massive proteinuria

1 reference

12 December 2020

Adolescent cystinosis: renal function and morphology

1 reference

12 December 2020

[Kidney changes in infantile and adolescent (nephropathic) cystinosis]

1 reference

12 December 2020

Survival time in cystinosis. A collaborative study

1 reference

12 December 2020

Late onset cystinosis. Apropos of a case

1 reference

12 December 2020

Improved renal function in children with cystinosis treated with cysteamine

1 reference

12 December 2020

Classic nephropathic cystinosis as an adult disease

1 reference

12 December 2020

Glomerular lesions in juvenile cystinosis: report of 2 cases

1 reference

12 December 2020

Identifiers

DOI

10.2215/CJN.01740407

1 reference

15 August 2017

1 reference

PMC publication ID

2390982

15 August 2017

PubMed publication ID

18178779

1 reference

PMC publication ID

2390982