Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2A.Summary_vars_CPGs_MMgenes
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.
Bachmann T et al.
Neurology. Genetics, 2024
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.
Zhu Y et al.
Open Life Sciences, 2018
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
Bröer S
Iubmb Life, 2009
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
Zheng Y et al.
International Journal of Dermatology, 2009
Further evidence for allelic heterogeneity in Hartnup disorder.
Azmanov DN et al.
Human Mutation, 2008
Persistence of the common Hartnup disease D173N allele in populations of European origin.
Azmanov DN et al.
Annals of Human Genetics, 2007
The molecular basis of neutral aminoacidurias.
Bröer A et al.
Pflugers Archiv : European Journal of Physiology, 2006
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.
Bröer S et al.
Biochemical Society Transactions, 2005
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
Seow HF et al.
Nature Genetics, 2004
Collectrin and ACE2 in renal and intestinal amino acid transport.
Singer D et al.
Channels (austin, Tex.), 0
SLC6 transporters: structure, function, regulation, disease association and therapeutics.
Pramod AB et al.
Molecular Aspects of Medicine, 0
Select a paper to view details