A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
about
Retinitis pigmentosaIdentification and characterisation of the murine homologue of the gene responsible for cystinosis, CtnsThe proteome of lysosomesIdentification and subcellular localization of a new cystinosin isoformThe 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 regionCTNS mutations in an American-based population of cystinosis patientsThe 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 deletionIdentification and characterization of a lysosomal transporter for small neutral amino acidsNephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up.Human genetics of diabetic vascular complicationsLysosomal membrane proteins and their central role in physiologyIs genetic rescue of cystinosis an achievable treatment goal?Nephropathic cystinosis: an international consensus documentPhagocytic receptor CED-1 initiates a signaling pathway for degrading engulfed apoptotic cellsCarboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane SortingDisruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration.Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporterHeptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapyA lysosome-centered view of nutrient homeostasisCTNS mutations in patients with cystinosisIntracellular localization of p40, a protein identified in a preparation of lysosomal membranesNCU-G1 is a highly glycosylated integral membrane protein of the lysosomeEndo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosinVaried mechanisms underlie the free sialic acid storage disordersIntralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosisGenome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes.Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.Review of the genetics of renal disease.The redox status of cystinotic fibroblasts.Analysis of CTNS gene transcripts in nephropathic cystinosisWorldwide view of nephropathic cystinosis: results from a survey from 30 countriesVectorial metabolism and the evolution of transport systems.Molecular developments in renal tubulopathiesRare inherited kidney diseases: challenges, opportunities, and perspectives.Neurological impairment in nephropathic cystinosis: motor coordination deficits.Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin.Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.Neurocognitive functioning in school-aged cystinosis patientsMolecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.
P2860
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P2860
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին 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
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@ast
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en-gb
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@nl
type
label
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@ast
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en-gb
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@nl
prefLabel
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@ast
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en-gb
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
@en
P2093
Forestier L
Whitmore SA
van't Hoff W
P2860
P2888
P304
P3181
P356
10.1038/NG0498-319
P407
P577
1998-04-01T00:00:00Z
P5875
P6179
1048797139