| 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 |
| Silvia Kalantari, Colleen Carlston, Norah Alsaleh, Ghada M H Abdel-Salam, Fowzan Alkuraya, Mitsuhiro Kato, Naomichi Matsumoto, Satoko Miyatake, Tatsuya Yamamoto, Lucas Fares-Taie, Jean-Michel Rozet, Nicolas Chassaing, Catherine Vincent-Delorme, Anjeung Kang-Bellin, Kirsty McWalter, Caleb Bupp, Emily Palen, Monisa D Wagner, Marcello Niceta, Claudia Cesario, Roberta Milone, Julie Kaplan, Erin Wadman, William B Dobyns, Isabel Filge. Expanding the KIF4A-associated phenotype. American journal of medical genetics. Part A. vol 185. issue 12. 2021-11-24. PMID:34346154. |
we expand the phenotype associated with kif4a variants from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of phenotypic manifestations. |
2021-11-24 |
2023-08-13 |
human |
| Illja J Diets, Trine Prescott, Neena L Champaigne, Grazia M S Mancini, Bård Krossnes, Radek Frič, Kristina Kocsis, Marjolijn C J Jongmans, Tjitske Kleefstr. A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. Genetics in medicine : official journal of the American College of Medical Genetics. vol 21. issue 3. 2019-07-15. PMID:29907796. |
a recurrent de novo missense pathogenic variant in smarcb1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. |
2019-07-15 |
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 |