anti-Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 9 (SLC7A9) Antikörper

Human Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 9 (SLC7A9) Interaktionspartner

1. A homozygous c.325G>A mutation in cationic amino cid transport proteins (SLC7A9) was identified in two patients, and six neutral and basic amino acid transporter protein (SLC3A1) mutations were found in five patients.

2. Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Only missense mutation V142A had a benign effect on the protein structure and function of SLC7A9. The intron variant c.604+66C>G in SLC7A9 gene probably affected the splicing process.

3. Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated

4. Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described.

5. Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria.

6. A new variation in exon 4 of the SLC7A9 gene was identified in cystinuria patients, which was insertion of 1 adenine nucleotide between 2 cytosine nucleotides in position c.213-214insA.

7. Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients

8. G105R but not R333W mutation found in Iranian cystinuria patients

9. Report no association of SLC7A9 mutations with clinical course of disease in cystinuria patients.

10. Case Report: novel mutation of SLC7A9 gene in cystinuria.

11. We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B).

12. In SLC7A9 gene, one large genomic rearrangement and 24 sequence variants are found in cystinuria patients.

13. Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9.

14. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption

15. in cystinuria, the detection rate for mutations in SLC7A9 in children was 25% in the SLC7A9 gene for non-type I chromosomes.

16. The finding of SLC7A9 mutations in all three subtypes underscores the complex interactions between specific cystinuria genes and other factors influencing cystine excretion.

17. Three novel SLC7A9 mutations were identified: two missense mutations (P261L and V330M) and one single base-pair deletion (1009 delA)

18. deletions in SLC7A9 in cystinuria

19. Mutations of this protein have a population-specific distribution among south-east Europeans living in Germany.

20. Mutational analysis should focus on this gene in inheritance of cytinuria.

Mouse (Murine) Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 9 (SLC7A9) Interaktionspartner

1. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption

2. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis

3. mouse amino acid transport system B0 is a neutral amino acid transporter related to Hartnup disorder

4. A new protocol with d-penicillamine to validate our Slc7a9 knockout mouse model for the study of the therapeutic effect of drugs in the treatment of cystine lithiasis is reported.

Pig (Porcine) Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 9 (SLC7A9) Interaktionspartner

1. This study measured the intestinal expression of b(0,+)AT according to developmental stage, and documented the effect of intra-uterine growth restriction on such expression using real-time PCR and Western blot analysis.

2. SLC7A9 mRNA was detected in brain, kidney, duodenum, jejunum, ileum, heart, liver, lung and muscle from Tibetan pigs