Associated Papers
CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.
Nishijo T et al.
Journal of Neurochemistry, 2026
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing.
Silvia Beatriz Sanchez Marco et al.
Case Reports in Pediatrics, 2025
Isogenic iPSC-derived CTBP1 mutant neuronal cells exhibit neurodevelopmental defects.
Lee S et al.
Frontiers in Neuroscience, 2025
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.
Zhang Q et al.
Frontiers in Genetics, 2024
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Kadhim H et al.
Neuromuscular Disorders : Nmd, 2023
CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.
Akdaş EY et al.
Stem Cell Research, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.
Wong WK et al.
Jimd Reports, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS.
Jafari Khamirani H et al.
Journal of Genetics, 2021
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.
Bhatia SK et al.
Clinical Dysmorphology, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2.
Corrêa T et al.
Frontiers in Genetics, 2020
Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks.
Vijayalingam S et al.
Frontiers in Neuroscience, 2020
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Beck DB et al.
Neurogenetics, 2019
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.
Sommerville EW et al.
Neurology. Genetics, 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck DB et al.
Neurogenetics, 2016