Mutational spectrum of the CTNS gene in Italy (Q44490436)

3 December 2017

Mutational spectrum of the CTNS gene in Italy (English)

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3 December 2017

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8

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3 December 2017

Guglielmina Pepe

2

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author name string

Silvia Mason

1

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3 December 2017

Roberto Dall'Amico

3

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3 December 2017

Sara Tartaglia

4

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3 December 2017

Stefania Casciani

5

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3 December 2017

Marcella Greco

6

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3 December 2017

Paola Bencivenga

7

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3 December 2017

Gianfranco Rizzoni

9

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3 December 2017

Romano Tenconi

10

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3 December 2017

Maurizio Clementi

11

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3 December 2017

1 July 2003

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European Journal of Human Genetics

3 December 2017

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3 December 2017

11

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3 December 2017

7

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3 December 2017

503-508

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200993

3 December 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

CTNS mutations in an American-based population of cystinosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

CTNS mutations in patients with cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

CTNS mutations in African American patients with cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

Mutations of CTNS causing intermediate cystinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

The molecular basis of Dutch infantile nephropathic cystinosis

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200993

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5200993

1 reference

3 December 2017

1 reference