Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
Scherer N et al.
Nature Genetics, 2025
Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers.
Dehury B et al.
Journal of Cellular Biochemistry, 2025
Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.
Alkhofash NF et al.
Frontiers in Cell and Developmental Biology, 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M et al.
Nature Communications, 2023
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Wang X et al.
American Journal of Medical Genetics. Part A, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Haijes HA et al.
Molecular Genetics and Metabolism Reports, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.
Zhu Y et al.
Open Life Sciences, 2018
Rare mutations associating with serum creatinine and chronic kidney disease.
Sveinbjornsson G et al.
Human Molecular Genetics, 2014
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.
Bröer A et al.
The Journal of Biological Chemistry, 2011
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
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Camargo SM et al.
Gastroenterology, 2009
[Phenylketonuria].
Niinikoski H et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2009
Apical transporters for neutral amino acids: physiology and pathophysiology.
Bröer S
Physiology (bethesda, Md.), 2008
Inherited epithelial transporter disorders--an overview.
Bergeron MJ et al.
Journal of Inherited Metabolic Disease, 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: unraveling the mystery.
Kraut JA et al.
Trends in Pharmacological Sciences, 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