Associated Papers
Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury.
Kakisaka K et al.
Molecular Genetics and Metabolism, 2025
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Contreras JL et al.
Frontiers in Pediatrics, 2021
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C et al.
Frontiers in Endocrinology, 2021
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM et al.
Orphanet Journal of Rare Diseases, 2019
Systematic reconstruction of autism biology from massive genetic mutation profiles.
Luo W et al.
Science Advances, 2018
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
Zhang G et al.
Pediatric Pulmonology, 2017
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.
Luhrs K et al.
Autism Research and Treatment, 2017
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Griswold AJ et al.
Molecular Autism, 2015
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Ko JM et al.
Journal of Korean Medical Science, 2012
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M et al.
European Journal of Human Genetics : Ejhg, 2009
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2005
A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan.
Inoue Y et al.
Human Biology, 2003
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
Shoji Y et al.
Human Mutation, 2002
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group.
Koizumi A et al.
Human Mutation, 2000
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
Noguchi A et al.
Human Mutation, 2000