Advances in genetic aspects of cystinuria

Molecular Urology

Volumn 4, Issue 4, 2000, Pages 403-407

  Ito, H ^a   Egoshi, K ^a   Mizoguchi, K ^a   Akakura, K ^a  

^a CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSPORT; CHROMOSOME 2P; CLINICAL FEATURE; CYSTINURIA; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; URINARY EXCRETION;

AMINO ACID TRANSPORT SYSTEMS, BASIC; ANIMALS; CARRIER PROTEINS; CELL LINE; CHROMOSOMES, HUMAN, PAIR 19; CYSTINURIA; HUMANS; MEMBRANE GLYCOPROTEINS; MODELS, BIOLOGICAL; MUTATION;

EID: 0033636298     PISSN: 10915362     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (22)

1. The incidence of cystinuria in Japan
2. Cystinuria
3. The long-term outcome of cystinuria in Japan
4. Cystinuria: Biochemical evidence for three genetically distinct diseases
5. Phenotypes and genotypes in cystinuria
6. Cystinuria subtype and the risk of nephrolithiasis
7. Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport systems for cystine and dibasic and neutral amino acids
8. Localization of a gene causing cystinuria to chromosome 2p
9. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport
10. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
11. Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
12. Mutations of the basic amino acid transporter gene associated with cystinuria
13. Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria
14. Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98)
15. A new family of proteins (rBAT and 4F2hc) involved in cationic and zwitterionic amino acid transport: A tale of two proteins in search of a transport function
16. Genetic heterogeneity in cystinuria: The SLC3A1 gene is linked to Type I but not to Type III cystinuria
17. Localization, by linkage analysis, of the cystinuria Type III gene to chromosome 19q13.1
18. 0,+AT) of rBAT
19. Identification of an amino acid transporter associated with the cystinuria-related Type II membrane glycoprotein
20. Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules
21. Transport of L-cystine in isolated perfused proximal straight tubules
22. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic and neutral amino acid transport