Associated Papers
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes.
Zhang Q et al.
Signal Transduction and Targeted Therapy, 2024
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases.
Saint-Martin M et al.
The European Journal of Neuroscience, 2018
Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.
Canali G et al.
Human Molecular Genetics, 2018
CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?
Canali G et al.
Journal of Experimental Neuroscience, 2018
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
Murdoch JD et al.
Plos Genetics, 2015
Shining a light on CNTNAP2: complex functions to complex disorders.
Rodenas-Cuadrado P et al.
European Journal of Human Genetics : Ejhg, 2014
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.
Won H et al.
Frontiers in Molecular Neuroscience, 2013
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.
Falivelli G et al.
Human Molecular Genetics, 2012
Cell adhesion molecules and their involvement in autism spectrum disorder.
Ye H et al.
Neuro-signals, 2010
Genetic factors and epigenetic factors for autism: endoplasmic reticulum stress and impaired synaptic function.
Momoi T et al.
Cell Biology International, 2009
Multiple rare variants in the etiology of autism spectrum disorders.
Buxbaum JD
Dialogues in Clinical Neuroscience, 2009
Autism genetics: strategies, challenges, and opportunities.
O'Roak BJ et al.
Autism Research : Official Journal of the International Society for Autism Research, 2008
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Bakkaloglu B et al.
American Journal of Human Genetics, 2008
Recent Advances in the Genetics of Vocal Learning.
Condro MC et al.
Comparative Cognition & Behavior Reviews, 0