Associated Papers
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.
Bai L et al.
Artificial Cells, Nanomedicine, and Biotechnology, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.
Yang W et al.
Heliyon, 2024
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.
Bonati MT et al.
Genes, 2024
Gain-of-Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy.
Zhang J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
SINO Syndrome Causative KIDINS220/ARMS Gene Regulates Adipocyte Differentiation.
Zhang K et al.
Frontiers in Cell and Developmental Biology, 2021
33763417 (PubMed )
Supplement: Table_1.pdf
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Zhao M et al.
Molecular Diagnosis & Therapy, 2019
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Mero IL et al.
Human Molecular Genetics, 2017
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ et al.
Human Molecular Genetics, 2016
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