| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Melinda Moseley-Alldredge, Caroline Aragón, Marcus Vargus, Divya Alley, Nirali Somia, Lihsia Che. The L1CAM SAX-7 is an antagonistic modulator of Erk Signaling. bioRxiv : the preprint server for biology. 2024-09-30. PMID:39345534. |
in addition to being associated with the autism and schizophrenia spectrum disorders, mutations in the l1cam family of genes also underlie distinct developmental syndromes with neurological conditions, such as intellectual disability, spastic paraplegia, hypotonia and congenital hydrocephalus. |
2024-09-30 |
2024-10-02 |
Not clear |
| Melinda Moseley-Alldredge, Seema Sheoran, Hayoung Yoo, Calvin O'Keefe, Janet E Richmond, Lihsia Che. A role for the Erk MAPK pathway in modulating SAX-7/L1CAM-dependent locomotion in Caenorhabditis elegans. Genetics. 2021-12-01. PMID:34849872. |
besides being associated with autism and schizophrenia spectrum disorders, impaired l1cam function also underlies the x-linked l1 syndrome, which encompasses a group of neurological conditions, including spastic paraplegia and congenital hydrocephalus. |
2021-12-01 |
2023-08-13 |
caenorhabditis_elegans |
| Ananth Prasad Burada, Rajesh Vinnakota, Janesh Kuma. The architecture of GluD2 ionotropic delta glutamate receptor elucidated by cryo-EM. Journal of structural biology. vol 211. issue 2. 2021-08-02. PMID:32512155. |
these receptors play key roles in synaptogenesis and synaptic plasticity and are associated with multiple neuronal disorders like schizophrenia, autism spectrum disorder, cerebellar ataxia, intellectual disability, paraplegia, retinal dystrophy, etc. |
2021-08-02 |
2023-08-13 |
rat |
| Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuj. A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. Internal medicine (Tokyo, Japan). vol 59. issue 6. 2020-09-23. PMID:31813911. |
a novel de novo kif1a mutation in a patient with autism, hyperactivity, epilepsy, sensory disturbance, and spastic paraplegia. |
2020-09-23 |
2023-08-13 |
Not clear |
| Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuj. A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. Internal medicine (Tokyo, Japan). vol 59. issue 6. 2020-09-23. PMID:31813911. |
we herein report a man with autism and hyperactivity along with sensory disturbance and spastic paraplegia, carrying a novel de novo mutation in kif1a [c.37c>t (p.r13c)]. |
2020-09-23 |
2023-08-13 |
Not clear |
| A M Matthews, M Tarailo-Graovac, E M Price, I Blydt-Hansen, A Ghani, B I Drögemöller, W P Robinson, C J Ross, W W Wasserman, H Siden, C D van Karnebee. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. European journal of medical genetics. vol 60. issue 10. 2017-12-07. PMID:28778789. |
a de novo mosaic mutation in spast with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. |
2017-12-07 |
2023-08-13 |
Not clear |