Aichi Developmental Disability Center

Recent papers from Aichi Developmental Disability Center

1. Wiring the developing brain: The Rho GTPase signaling network in neurodevelopmental disordersNeurobiology of Disease · 2026
2. Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA AnalysisMolecular Genetics & Genomic Medicine · 2026
3. Biallelic SIGMAR1 variants in early-onset distal hereditary motor neuropathy: A Japanese case seriesJournal of Neuromuscular Diseases · 2026
4. A case of Costello syndrome with a hotspot HRAS substitution p.Gly12Ser and an in silico analysis of the correlation between genotype and clinical severityDermatologica Sinica · 2026
5. An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activationScience Immunology · 2026
6. Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screeningiScience · 2026
7. A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signalingScientific Reports · 2026
8. Hierarchical Nuclear Architecture in Pre-mRNA Splicing: From IDRs to Speckles and MeshworksInternational Journal of Molecular Sciences · 2026
9. Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring CEP152 VariantsCells · 2026
10. Sbno1 and Usp8 Cooperate to Enhance Notch Signaling in Regulating Neural Stem CellsDevelopment Growth & Differentiation · 2026
11. Functional loss of PKMζ in the dorsal hippocampus potentiates the time-dependent increase in false contextual fear memory and impairs spatial recognition memory in miceFrontiers in Behavioral Neuroscience · 2026
12. Glycosaminoglycans in axon growth and regeneration: molecular mechanisms and therapeutic implicationsFrontiers in Molecular Biosciences · 2026
13. Dissociable sensitivity of auditory evoked fields and 40-Hz auditory steady-state responses to spatial noveltyNeuroscience · 2026
14. Transfer Strategy Minimizing Twin Risk of Double Blastocyst Transfers Based on Prediction ModelsReproductive Medicine and Biology · 2026
15. Real-world effectiveness, safety and patient-reported outcomes of sarilumab in patients with rheumatoid arthritis: a 52-week, prospective, open-label, non-interventional, observational, nationwide, large-cohort study in Japan (PROFILE-J)RMD Open · 2026
16. A novel synthetic melanin as a potential anticancer agent that induces apoptosis and cyclin D downregulation through distinct pathwaysJournal of Biological Chemistry · 2026
17. MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patientHuman Genome Variation · 2026
18. Inherited glycosylphosphatidylinositol deficiency successfully treated with high-dose pyridoxine therapy initiated in adulthood: A case reportBrain and Development Case Reports · 2026
19. Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental featuresGenetics in Medicine · 2026
20. Motor Function Changes in Duchenne Muscular Dystrophy: A Case Series Using Conventional and Spinal Muscular Atrophy-Based Assessments During Viltolarsen TreatmentPediatric Neurology · 2026