Associated Papers
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
Lopes-Marques M et al.
Human Genetics, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.
Clark JSC et al.
Scientific Reports, 2023
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Luo R et al.
Signal Transduction and Targeted Therapy, 2021
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.
Bhat S et al.
Pharmacology & Therapeutics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.
Chu G et al.
Cancer Medicine, 2019
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.
Thareja G et al.
Bmc Genomics, 2015
Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.
Alsalem AB et al.
Plos Genetics, 2013
Association study: SLC6A18 gene and myocardial infarction.
Matsumoto K et al.
Clinical Biochemistry, 2011
Orphan transporter SLC6A18 is renal neutral amino acid transporter B0AT3.
Singer D et al.
The Journal of Biological Chemistry, 2009
Kidney amino acid transport.
Verrey F et al.
Pflugers Archiv : European Journal of Physiology, 2009
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
Bröer S et al.
The Journal of Clinical Investigation, 2008
Analysis of VNTRs in the solute carrier family 6, member 18 (SLC6A18) and lack of association with hypertension.
Yoon YH et al.
Dna and Cell Biology, 2008
Protein Z/Z-dependent protease inhibitor (PZ/ZPI) anticoagulant system and thrombosis.
Corral J et al.
British Journal of Haematology, 2007
A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis.
Corral J et al.
Blood, 2006
A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese.
Eslami B et al.
The Tohoku Journal of Experimental Medicine, 2006