| 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 |
| Fang Cui, LiuQing Sun, Jie Qiao, JianYong Li, Mao Li, SiYu Chen, Bo Sun, XuSheng Huan. Genetic mutation analysis of hereditary spastic paraplegia: A retrospective study. Medicine. vol 99. issue 23. 2020-07-06. PMID:32501971. |
the l1cam gene is the causative gene for the spg1 x-linked recessive-hereditary spastic paraplegias.our data confirm the genetic heterogeneity of hereditary spastic paraplegias, and spg4/spast were the most frequent forms. |
2020-07-06 |
2023-08-13 |
Not clear |
| Abián Muñoz, José C Cabrera-López, Alfredo Santana-Rodríguez, Laura Toledo-Bravo de Laguna, Alexandre Santana-Artiles, Irma Sebastián-Garcí. [X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome]. Revista de neurologia. vol 62. issue 5. 2017-01-23. PMID:26916325. |
[x-linked hereditary spastic paraplegia due to mutation in the l1cam gene: three cases reports of crash syndrome]. |
2017-01-23 |
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 |
| Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, Leonardo Salviati, Elisabetta Lapi, Maria Teresa Divizia, Livia Garavelli, Gianluca Occhi, Giovanni Vazza, Maria Luisa Mostacciuol. Novel mutations in the L1CAM gene support the complexity of L1 syndrome. Journal of the neurological sciences. vol 294. issue 1-2. 2010-10-21. PMID:20447653. |
x-linked hydrocephalus, masa syndrome, x-linked complicated spastic paraplegia type i and x-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to l1 syndrome, caused by mutations in the l1cam gene. |
2010-10-21 |
2023-08-12 |
Not clear |
| Michael K E Schäfer, Peter Altevog. L1CAM malfunction in the nervous system and human carcinomas. Cellular and molecular life sciences : CMLS. vol 67. issue 14. 2010-07-06. PMID:20237819. |
mutations of the human l1cam gene have been shown to cause neurodevelopmental disorders such as x-linked hydrocephalus, spastic paraplegia and mental retardation. |
2010-07-06 |
2023-08-12 |
human |
| Max Christoph Liebau, Andreas Gal, Andrea Superti-Furga, Heymut Omran, Martin Poh. L1CAM mutation in a boy with hydrocephalus and duplex kidneys. Pediatric nephrology (Berlin, Germany). vol 22. issue 7. 2007-08-02. PMID:17294222. |
mutations in the x-chromosomal gene (l1cam) for cell adhesion molecule l1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (l1-spectrum disease, crash or masa syndrome). |
2007-08-02 |
2023-08-12 |
mouse |
| L Basel-Vanagaite, R Straussberg, M J Friez, D Inbar, L Korenreich, M Shohat, C E Schwart. Expanding the phenotypic spectrum of L1CAM-associated disease. Clinical genetics. vol 69. issue 5. 2006-06-30. PMID:16650080. |
mutations in the l1cam gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. |
2006-06-30 |
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. |
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 |
| J K Fink, P Heder. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. Seminars in neurology. vol 19. issue 3. 2002-09-17. PMID:12194386. |
x-linked spastic paraplegia can be caused also by mutations in the l1cam gene. |
2002-09-17 |
2023-08-12 |
Not clear |
| Elena De Angelis, Alex Watkins, Michael Schäfer, Thomas Brümmendorf, Sue Kenwric. Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. Human molecular genetics. vol 11. issue 1. 2002-03-19. PMID:11772994. |
mutations in the l1cam gene cause a highly variable neurological disease described as x-linked hydrocephalus, masa syndrome or spastic paraplegia type i. |
2002-03-19 |
2023-08-12 |
Not clear |
| U Finckh, J Schröder, B Ressler, A Veske, A Ga. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. American journal of medical genetics. vol 92. issue 1. 2000-05-24. PMID:10797421. |
mutations in l1cam, the gene encoding the l1 neuronal cell adhesion molecule, lead to an x-linked trait characterized by one or more of the symptoms of hydrocephalus, adducted thumbs, agenesis or hypoplasia of corpus callosum, spastic paraplegia, and mental retardation (l1-disease). |
2000-05-24 |
2023-08-12 |
Not clear |
| 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 |
| R C Michaelis, Y Z Du, C E Schwart. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. Journal of medical genetics. vol 35. issue 11. 1999-02-04. PMID:9832035. |
mutations in the l1cam gene produce a phenotype characterised by x linked hydrocephalus, mental retardation, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum. |
1999-02-04 |
2023-08-12 |
Not clear |
| P Saugier-Veber, C Martin, N Le Meur, S Lyonnet, A Munnich, A David, A Hénocq, D Héron, P Jonveaux, S Odent, S Manouvrier, A Moncla, N Morichon, N Philip, D Satge, M Tosi, T Frébour. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. Human mutation. vol 12. issue 4. 1998-11-17. PMID:9744477. |
the l1cam gene, which is located in xq28 and codes for a neuronal cell adhesion molecule, is involved in three distinct conditions: hsas (hydrocephalus-stenosis of the aqueduct of sylvius), masa (mental retardation, aphasia, shuffling gait, adductus thumbs), and spg1 (spastic paraplegia). |
1998-11-17 |
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 |
| 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 |