CTNS mutations in an American-based population of cystinosis patients
about
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 regionThe 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 deletionCystinosis: a reviewCystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporterCTNS mutations in patients with cystinosisAnalysis of CTNS gene transcripts in nephropathic cystinosisMolecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.Treatment of corneal cystine crystal accumulation in patients with cystinosis.Genomic imbalances in pediatric patients with chronic kidney disease.Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.Identification of disease genes by whole genome CGH arrays.Genetic basis of cystinosis in Turkish patients: a single-center experience.Rab38 modulates proteinuria in model of hypertension-associated renal disease.Two novel CTNS mutations in cystinosis patients in Thailand.Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.Cystine dimethylester loading promotes oxidative stress and a reduction in ATP independent of lysosomal cystine accumulation in a human proximal tubular epithelial cell line.Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.Amish, mennonite, and hutterite genetic disorder database.Site promiscuity of coliphage HK022 integrase as a tool for gene therapy.CTNS mutations in publicly-available human cystinosis cell lines.Characterization of CTNS mutations in Arab patients with cystinosis.Mutational spectrum of the CTNS gene in Italy.Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up.Aortic dissection and cystinosis: is there any relationship?Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review.Slow progression of renal failure in a child with infantile cystinosis.Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.The impact of chromosomal microarray on clinical management: a retrospective analysis.Natural history of adolescent-onset cystinosis.Common mutation causes cystinosis in the majority of black South African patients.Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare mutation
P2860
Q54835967-79704D5A-D3CD-4910-B7F1-C65407D78B75Q54835976-B25E69C7-8344-49B6-96A6-F7D2A79A9B24Q54836003-069A6182-D086-45BE-9DFB-5140A4652504Q54836031-E46042DB-2F34-46D7-9ADC-15305668ACCEQ54836149-DDE4F262-42FA-4EB7-92CC-6FA6A1A6A67FQ54836258-9F2E85DC-0F69-46FE-AC75-C18BB27AA608Q54836400-93700539-A978-4590-9A0D-5FA30CD8C2ACQ54836447-633FFB42-9FE5-4507-9BB5-D9AF13A79D7CQ54837283-45A918C7-5D55-4A06-A6C9-08802F8622CDQ54837742-3A7EC3A2-74A3-4FEA-8299-705EE4418C15Q54842408-7A82B695-A2DD-4CBA-8A49-27F35089A05D
P1343
Q24533355-8BFA7CCA-63FA-4422-8540-FD4054F6CD24Q24624725-8B36F46A-B463-4F5A-A1D1-366D8230FE57Q26751225-9A063803-50E7-4B58-9D12-2967CFDFA6F6Q27937730-302E775B-F042-40A5-B16E-14FB450C3173Q28138498-C6D785C0-EA2B-46E2-931D-535D54ED087BQ33866784-D8FA2E00-6046-4C16-90F9-AC4F82C8567DQ34389935-E3F7F484-681B-48A9-88FD-0AACE27547AAQ34400156-5EB0E12D-D803-4E7F-8879-AAEE7CA55044Q34444456-B14D8C74-B1A7-446B-B6D8-6F40F8D1520FQ35720119-F4473BB4-77EF-4CB6-AA0A-3EBD9261EDAAQ35749881-B7ED75BA-21DB-4E09-9D7C-C401A53822D9Q36294690-CBC74752-C7A1-45AF-9F79-51DDCC898C55Q36410885-82FD50DB-FF2D-4BF3-A591-495B7F4DC785Q36574790-6B8B0B12-1950-4347-B6A5-81F9B269AFF9Q37214735-55DE8FB4-BAC5-46F0-B500-B868ABF0E653Q37322021-4DBBF348-2F88-4436-9383-0BC61E7D064BQ38631770-56CF55CB-F563-4FA0-BD30-ADBF9B07DE96Q38961757-03062B83-2121-4DAA-8232-BDCFFD4DD848Q39132722-7B8077AE-65C7-4186-8BB7-52C62B9908BCQ41895875-66D85BB8-F5F7-4610-9A6C-D9D74AB3B117Q41973873-D68031F7-C3D9-45F1-BDA3-B7C30A4726F1Q42155621-78206DA0-592E-48AE-88F7-3BDFC1AB3442Q42202098-D32751E9-6C51-4D5C-8BFD-B5BF90DA6B0AQ43255975-94C1C155-F334-4D40-9050-BDF2F493BA51Q44490436-50448FD4-68C7-47A1-9F8A-D6E63D7BBE2AQ46025928-AC7EB7DC-9E38-487F-BB08-4FC797522BACQ47768053-36AF4953-393E-411D-B955-74287B53555FQ49214688-F645D921-108A-4097-95D9-C17A33E62EC8Q49991100-6BE557CE-AA51-4FB8-B560-9041C83975E2Q50041416-3B1E8C1C-C3CC-4549-AB56-4ECC00DDE391Q50308309-2EE0CCF8-C296-455B-88F3-DED0202AE95EQ51035036-93E539B5-0997-478E-977E-0D39A3103FA9Q53824560-27B80F31-3FF6-4A8B-BB7C-A0DDD7BDE8A9Q58788221-13F6231E-D74B-4D39-AA85-B07E04026F34
P2860
CTNS mutations in an American-based population of cystinosis patients
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
CTNS mutations in an American-based population of cystinosis patients
@ast
CTNS mutations in an American-based population of cystinosis patients
@en
CTNS mutations in an American-based population of cystinosis patients
@nl
type
label
CTNS mutations in an American-based population of cystinosis patients
@ast
CTNS mutations in an American-based population of cystinosis patients
@en
CTNS mutations in an American-based population of cystinosis patients
@nl
prefLabel
CTNS mutations in an American-based population of cystinosis patients
@ast
CTNS mutations in an American-based population of cystinosis patients
@en
CTNS mutations in an American-based population of cystinosis patients
@nl
P2093
P2860
P4510
P3181
P356
P1476
CTNS mutations in an American-based population of cystinosis patients
@en
P2093
G McDowell
I Bernardini
V Shotelersuk
Y Anikster
P2860
P304
P3181
P356
10.1086/302118
P407
P577
1998-11-01T00:00:00Z