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 (Q24624725)

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English	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	scientific article

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scholarly article

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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 (English)

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Abderhalden–Kaufmann–Lignac syndrome

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based on heuristic

inferred from title

10

object named as

E D Green

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author name string

J W Touchman

1

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Y Anikster

2

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N L Dietrich

3

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V V Maduro

4

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G McDowell

5

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V Shotelersuk

6

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G G Bouffard

7

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S M Beckstrom-Sternberg

8

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W A Gahl

9

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language of work or name

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publication date

February 2000

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Genome Research

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10

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165-73

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2

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CTNS mutations in an American-based population of cystinosis patients

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7 April 2017

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

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7 April 2017

The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction with the PDZ domain of cellular proteins

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7 April 2017

Primary structure and expression of a naturally truncated human P2X ATP receptor subunit from brain and immune system

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7 April 2017

The capsaicin receptor: a heat-activated ion channel in the pain pathway

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7 April 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

7 April 2017

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

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7 April 2017

Consed: a graphical tool for sequence finishing

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7 April 2017

Base-calling of automated sequencer traces using phred. II. Error probabilities

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7 April 2017

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

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7 April 2017

Prediction of complete gene structures in human genomic DNA

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7 April 2017

Molecular cloning of the human mucosal lymphocyte integrin alpha E subunit. Unusual structure and restricted RNA distribution

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

7 April 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

7 April 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

27 September 2017

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

27 September 2017

The partial tandem duplication of ALL1 (MLL) is consistently generated by Alu-mediated homologous recombination in acute myeloid leukemia

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27 September 2017

Identification of complex genomic breakpoint junctions in the t(9;11) MLL-AF9 fusion gene in acute leukemia

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27 September 2017

PowerBLAST: a new network BLAST application for interactive or automated sequence analysis and annotation

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27 September 2017

Identification of new members of a carbohydrate kinase-encoding gene family.

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27 September 2017

Cystinosis coming of age.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

27 September 2017

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease

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27 September 2017

Cloning of a stretch-inhibitable nonselective cation channel.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

30 May 2018

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

30 May 2018

The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints.

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30 May 2018

Recognizing exons in genomic sequence using GRAIL II.

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30 May 2018

Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis

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30 May 2018

Neurologic complications in long-standing nephropathic cystinosis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

30 May 2018

Swallowing dysfunction in nephropathic cystinosis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

30 May 2018

Evidence for Cerebral Involvement in Nephropathic Cystinosis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

30 May 2018

Pancreatic endocrine insufficiency in posttransplant cystinosis.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

30 May 2018

The BCR gene recombines preferentially with Alu elements in complex BCR-ABL translocations of chronic myeloid leukaemia.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=310836

28 November 2018

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

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https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

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Long-term ocular manifestations in nephropathic cystinosis

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https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complications of nephropathic cystinosis after renal failure

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https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OSP: a computer program for choosing PCR and DNA sequencing primers

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distal vacuolar myopathy in nephropathic cystinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Medullary nephrocalcinosis in nephropathic cystinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10673275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1101/GR.10.2.165

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