CTNS mutations in an American-based population of cystinosis patients (Q24539471)

2

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Y Anikster

3

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G McDowell

4

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R Lemons

5

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I Bernardini

6

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J Guo

7

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J Thoene

8

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W A Gahl

American Journal of Human Genetics

9

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language of work or name

English

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publication date

November 1998

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published in

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volume

63

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page(s)

1352-62

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issue

5

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describes a project that uses

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Sequence analysis in the olfactory receptor gene cluster on human chromosome 17: recombinatorial events affecting receptor diversity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Interstitial deletion of (17)(p11.2p11.2) in nine patients

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Parenchymal organ cystine depletion with long-term cysteamine therapy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Lysosomal cystine counter-transport in heterozygotes for cystinosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Cystinosis coming of age.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Transformation of human cystinotic fibroblasts by SV40: Characteristics of transformed cells with limited and unlimited growth potential

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Cysteamine therapy for children with nephropathic cystinosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Neurologic complications in long-standing nephropathic cystinosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Swallowing dysfunction in nephropathic cystinosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Evidence for Cerebral Involvement in Nephropathic Cystinosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Pancreatic endocrine insufficiency in posttransplant cystinosis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

ATP-dependent lysosomal cystine efflux is defective in cystinosis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377545

Long-term ocular manifestations in nephropathic cystinosis

29 November 2018

1 reference

12 December 2020

Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease

1 reference

12 December 2020

Improved renal function in children with cystinosis treated with cysteamine

1 reference

12 December 2020

Distal vacuolar myopathy in nephropathic cystinosis

1 reference

12 December 2020

Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis

1 reference

12 December 2020

Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13

1 reference

12 December 2020

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

1 reference

12 December 2020

Ascorbic acid treatment in nephropathic cystinosis in identical twins

1 reference

12 December 2020

Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes

1 reference

12 December 2020

Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302118

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302118

1 reference

2151779

2151779

1 reference

1 reference

1 reference