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
about
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprintingCystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.Clinical utility gene card for: cystinosis.The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.Sedoheptulose kinase regulates cellular carbohydrate metabolism by sedoheptulose 7-phosphate supply.Transcriptional and posttranscriptional regulation of the CTNS gene.Mutational spectrum of the CTNS gene in Italy.
P2860
Q34400156-17448002-C4E2-4555-BE62-A067A147E9DDQ36666949-890E3851-C2A5-47E7-982D-A6375BB21516Q37316088-6F0CCDBB-0D46-4C73-B1A4-3F32058F7610Q37322021-EDB52479-A6DD-4467-B562-CCA21C5D99E5Q37711796-A41DE804-C085-46BB-8872-C3E4B6846DC9Q37786450-BB70EB9F-E122-494E-A6E8-6700D3E3C583Q38091508-ADEC80CF-C2F8-4BB7-88C5-32D24992A0CCQ38335795-29D07714-8D03-4E21-BC7B-5F88185F363BQ44490436-FCDF5A9F-F3F3-4AA2-8FFD-136AB0E91F4F
P2860
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
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The promoter of a lysosomal me ...... f mutated in a critical region
@ast
The promoter of a lysosomal me ...... f mutated in a critical region
@en
The promoter of a lysosomal me ...... f mutated in a critical region
@en-gb
The promoter of a lysosomal me ...... f mutated in a critical region
@nl
type
label
The promoter of a lysosomal me ...... f mutated in a critical region
@ast
The promoter of a lysosomal me ...... f mutated in a critical region
@en
The promoter of a lysosomal me ...... f mutated in a critical region
@en-gb
The promoter of a lysosomal me ...... f mutated in a critical region
@nl
prefLabel
The promoter of a lysosomal me ...... f mutated in a critical region
@ast
The promoter of a lysosomal me ...... f mutated in a critical region
@en
The promoter of a lysosomal me ...... f mutated in a critical region
@en-gb
The promoter of a lysosomal me ...... f mutated in a critical region
@nl
P2093
P2860
P356
P1476
The promoter of a lysosomal me ...... f mutated in a critical region
@en
P2093
Anikster Y
Phornphutkul C
P2860
P304
P356
10.1086/323484
P407
P577
2001-08-14T00:00:00Z