| 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 |
| 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. |
pathogenic variants in l1cam, the gene encoding the l1 cell adhesion molecule, are responsible for a wide clinical spectrum including x-linked hydrocephalus with stenosis of the sylvius aqueduct, masa syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), and a form of spastic paraplegia (spg1). |
2021-11-18 |
2023-08-13 |
Not clear |
| Rosario Marín, Miriam Ley-Martos, Gema Gutiérrez, Felicidad Rodríguez-Sánchez, Diego Arroyo, Francisco Mora-Lópe. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. European journal of pediatrics. vol 174. issue 11. 2016-08-25. PMID:25948108. |
mutations in the l1cam gene have been identified in the following various x-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (masa) syndrome; spastic paraplegia; and agenesis of the corpus callosum. |
2016-08-25 |
2023-08-13 |
Not clear |
| Brandalyn A Chidsey, Erin E Baldwin, Reha Toydemir, Lauren Ahles, Heather Hanson, David A Stevenso. L1CAM whole gene deletion in a child with L1 syndrome. American journal of medical genetics. Part A. vol 164A. issue 6. 2015-01-13. PMID:24668863. |
clinical phenotypes within l1 syndrome include x-linked hydrocephalus with stenosis of the aqueduct of sylvius (hsas); mental retardation, adducted thumbs, shuffling gait, and aphasia (masa) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum. |
2015-01-13 |
2023-08-12 |
Not clear |
| Ling Zhan. CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules? The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 16. issue 4. 2011-01-07. PMID:20817921. |
l1 plays essential roles in normal development of the nervous system, and the mutations in the l1 gene are responsible for crash syndrome, a very rare inherited disorder characterized by corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, and hydrocephalus. |
2011-01-07 |
2023-08-12 |
Not clear |
| Patrick L Wilson, Brandi Blaisdell Kattman, John J Mulvihill, Shibo Li, Jesse Wilkins, Andrew F Wagner, Jean R Goodma. Prenatal identification of a novel R937P L1CAM missense mutation. Genetic testing and molecular biomarkers. vol 13. issue 4. 2009-10-26. PMID:19594370. |
mutations within the gene have been associated with phenotypic changes that include hydrocephalus due to aqueductal stenosis, agenesis or hypoplasia of the corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs. |
2009-10-26 |
2023-08-12 |
Not clear |
| Xuelin Wang, Wei Zhang, Thomas Cheever, Valentin Schwarz, Karla Opperman, Harald Hutter, Deanna Koepp, Lihsia Che. The C. elegans L1CAM homologue LAD-2 functions as a coreceptor in MAB-20/Sema2 mediated axon guidance. The Journal of cell biology. vol 180. issue 1. 2008-02-08. PMID:18195110. |
mutations in the human l1 gene can cause the neurological disorder crash (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). |
2008-02-08 |
2023-08-12 |
human |
| Maria Panayi, David Gokhale, Sahar Mansour, Rob Elle. Prenatal diagnosis in a family with X-linked hydrocephalus. Prenatal diagnosis. vol 25. issue 10. 2006-01-06. PMID:16088863. |
mutations in the l1cam gene are responsible for four related l1 disorders; x-linked hydrocephalus/hsas (hydrocephalus as a result of stenosis of the aqueduct of sylvius), masa (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, x-linked complicated spastic paraplegia type i (spg1) and x-linked agenesis of the corpus callosum (acc). |
2006-01-06 |
2023-08-12 |
Not clear |
| Maria Panayi, David Gokhale, Sahar Mansour, Rob Elle. Prenatal diagnosis in a family with X-linked hydrocephalus. Prenatal diagnosis. vol 25. issue 10. 2006-01-06. PMID:16088863. |
the main clinical features of this spectrum are corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia and hydrocephalus (crash syndrome). |
2006-01-06 |
2023-08-12 |
Not clear |
| Fatma Silan, Ismail Ozdemir, Willy Lissen. A novel L1CAM mutation with L1 spectrum disorders. Prenatal diagnosis. vol 25. issue 1. 2005-04-26. PMID:15662685. |
x-linked hydrocephalus, hsas (hydrocephalus due to stenosis of aqueduct of sylvius), masa (mental retardation, aphasia, shuffling gait, and adducted thumbs), and crash (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. |
2005-04-26 |
2023-08-12 |
Not clear |
| Karsten Thelen, Vishram Kedar, Anitha K Panicker, Ralf-Steffen Schmid, Bentley R Midkiff, Patricia F Manes. The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 22. issue 12. 2002-07-15. PMID:12077189. |
the l1 adhesion molecule regulates axon growth and is mutated in the x-linked mental retardation syndrome crash (acronym for corpus callosum agenesis, retardation, aphasia, spastic paraplegia, hydrocephalus). |
2002-07-15 |
2023-08-12 |
mouse |
| B Rolf, M Kutsche, U Bartsc. Severe hydrocephalus in L1-deficient mice. Brain research. vol 891. issue 1-2. 2001-05-10. PMID:11164829. |
this view is confirmed by the fact that mutations in the human l1 gene cause a severe neurological disease, termed crash (acronym for: corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). |
2001-05-10 |
2023-08-12 |
mouse |
| L K Needham, K Thelen, P F Manes. Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 21. issue 5. 2001-04-05. PMID:11222639. |
l1 gene mutations are present in humans with the x-linked mental retardation syndrome crash (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, hydrocephalus). |
2001-04-05 |
2023-08-12 |
human |
| R S Schmid, W M Pruitt, P F Manes. A MAP kinase-signaling pathway mediates neurite outgrowth on L1 and requires Src-dependent endocytosis. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 20. issue 11. 2000-06-15. PMID:10818153. |
mutations of human l1 cause an x-linked mental retardation syndrome termed crash (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, and hydrocephalus), and l1 knock-out mice display defects in neuronal process extension resembling the crash phenotype. |
2000-06-15 |
2023-08-12 |
mouse |
| S Claes, T Aguirre, V Simosa, T Bustos, R Lander, M Piras, E Legius, J J Cassiman, P Raeymaeker. Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree. Human mutation. vol Suppl 1. 1999-06-30. PMID:9452098. |
hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1g to a) in the l1cam gene in a venezuelan pedigree. |
1999-06-30 |
2023-08-12 |
Not clear |
| Y Z Du, C Dickerson, A S Aylsworth, C E Schwart. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Journal of medical genetics. vol 35. issue 6. 1998-08-14. PMID:9643285. |
mutations in l1cam are known to cause several clinically overlapping x linked mental retardation conditions: x linked hydrocephalus (hsas), masa syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type i (spg1), and x linked agenesis of the corpus callosum (acc). |
1998-08-14 |
2023-08-12 |
human |
| E Fransen, G Van Camp, R D'Hooge, L Vits, P J Willem. Genotype-phenotype correlation in L1 associated diseases. Journal of medical genetics. vol 35. issue 5. 1998-07-29. PMID:9610803. |
mutations in the l1 gene are responsible for four x linked neurological conditions: x linked hydrocephalus (hsas), masa syndrome, complicated spastic paraplegia type 1 (sp-1), and x linked agenesis of the corpus callosum. |
1998-07-29 |
2023-08-12 |
Not clear |
| S Takahashi, Y Makita, N Okamoto, A Miyamoto, J Ok. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. Brain & development. vol 19. issue 8. 1998-03-06. PMID:9440802. |
mutations in the gene encoding neural cell adhesion molecule l1 (l1cam) are involved in x-linked hydrocephalus (hsas, hydrocephalus due to stenosis of the aqueduct of sylvius), masa syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. |
1998-03-06 |
2023-08-12 |
Not clear |
| M Dahme, U Bartsch, R Martini, B Anliker, M Schachner, N Mante. Disruption of the mouse L1 gene leads to malformations of the nervous system. Nature genetics. vol 17. issue 3. 1997-12-04. PMID:9354804. |
mutations in the human l1 gene are associated with a variable phenotype, including mental retardation and anomalous development of the nervous system, referred to as 'crash' (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). |
1997-12-04 |
2023-08-12 |
mouse |