Associated Papers
Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.
Wei L et al.
Bmc Medical Genomics, 2025
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M et al.
Gene, 2023
Rare variant of TBL1XR1 in West syndrome: A case report.
Shen Y et al.
Molecular Genetics & Genomic Medicine, 2022
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
Arroyo Carrera I et al.
Clinical Genetics, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
TBL1XR1 Ensures Balanced Neural Development Through NCOR Complex-Mediated Regulation of the MAPK Pathway.
Mastrototaro G et al.
Frontiers in Cell and Developmental Biology, 2021
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Quan Y et al.
Journal of Molecular Neuroscience : Mn, 2020
Nuclear receptor corepressors in intellectual disability and autism.
Kong Y et al.
Molecular Psychiatry, 2020
Nuclear Receptor Coactivators (NCOAs) and Corepressors (NCORs) in the Brain.
Sun Z et al.
Endocrinology, 2020
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Lemattre C et al.
American Journal of Medical Genetics. Part A, 2018
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
Zaghlula M et al.
American Journal of Medical Genetics. Part A, 2018
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek A et al.
European Journal of Medical Genetics, 2017
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Nishi A et al.
Scientific Reports, 2017
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA et al.
Journal of Medical Genetics, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Laskowski RA et al.
Human Molecular Genetics, 2016
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Kobayashi Y et al.
Brain & Development, 2016
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H et al.
Journal of Human Genetics, 2014