| 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 |
| Idriss Bousquet, Muriel Bozon, Valérie Castellani, Renaud Touraine, Amélie Piton, Bénédicte Gérard, Laurent Guibaud, Damien Sanlaville, Patrick Edery, Pascale Saugier-Veber, Audrey Putou. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. Neurogenetics. vol 22. issue 1. 2021-11-18. PMID:33415589. |
a moderate phenotype with mild intellectual disability (id) and x-linked partial corpus callosum agenesis (cca) has only been related to l1cam in one family. |
2021-11-18 |
2023-08-13 |
Not clear |
| Idriss Bousquet, Muriel Bozon, Valérie Castellani, Renaud Touraine, Amélie Piton, Bénédicte Gérard, Laurent Guibaud, Damien Sanlaville, Patrick Edery, Pascale Saugier-Veber, Audrey Putou. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant. Neurogenetics. vol 22. issue 1. 2021-11-18. PMID:33415589. |
x-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel l1cam pathogenic variant. |
2021-11-18 |
2023-08-13 |
Not clear |
| Esra Isik, Huseyin Onay, Tahir Atik, Bilcag Akgun, Ozgur Cogulu, Ferda Ozkina. Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations. Clinical neurology and neurosurgery. vol 172. 2019-12-26. PMID:29960101. |
l1 syndrome is a rare x linked recessive disorder caused bygene mutations in the l1 cell adhesion molecule (l1cam), and characterized by hydrocephalus, intellectual disability, adducted thumbs and spasticity of the legs. |
2019-12-26 |
2023-08-13 |
Not clear |
| Christopher Patzke, Claudio Acuna, Louise R Giam, Marius Wernig, Thomas C Südho. Conditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation. The Journal of experimental medicine. vol 213. issue 4. 2016-08-15. PMID:27001749. |
hundreds of l1cam gene mutations have been shown to be associated with congenital hydrocephalus, severe intellectual disability, aphasia, and motor symptoms. |
2016-08-15 |
2023-08-13 |
human |
| Marie Shaw, Tzu Ying Yap, Lyndal Henden, Melanie Bahlo, Alison Gardner, Vera M Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gec. Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European journal of medical genetics. vol 58. issue 6-7. 2016-03-04. PMID:25934484. |
identical by descent l1cam mutation in two apparently unrelated families with intellectual disability without l1 syndrome. |
2016-03-04 |
2023-08-13 |
Not clear |
| Marie Shaw, Tzu Ying Yap, Lyndal Henden, Melanie Bahlo, Alison Gardner, Vera M Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gec. Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European journal of medical genetics. vol 58. issue 6-7. 2016-03-04. PMID:25934484. |
using massively parallel sequencing (mps) of the x-chromosome exome, we identified a novel missense variant in l1cam in two caucasian families with mild-moderate intellectual disability without obvious l1 syndrome features. |
2016-03-04 |
2023-08-13 |
Not clear |
| Toshiki Takenouchi, Mie Nakazawa, Yonehiro Kanemura, Sachiko Shimozato, Mami Yamasaki, Takao Takahashi, Kenjiro Kosak. Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum. American journal of medical genetics. Part A. vol 158A. issue 4. 2012-07-30. PMID:22354677. |
l1cam molecule is a cell adhesion molecule in nervous and enteric systems and is responsible for x-linked hydrocephalus (xlh) spectrum, which is a rare condition with severe congenital hydrocephalus, dysgenesis of the corpus callosum, intellectual disability, spasticity, and adducted thumbs. |
2012-07-30 |
2023-08-12 |
Not clear |