| 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 |
| Aida Kamalian, Siavash Shirzadeh Barough, Sara G Ho, Marilyn Albert, Mark G Luciano, Sevil Yasar, Abhay Mogheka. Molecular signatures of normal pressure hydrocephalus: a large-scale proteomic analysis of cerebrospinal fluid. Fluids and barriers of the CNS. vol 21. issue 1. 2024-08-09. PMID:39118132. |
moreover, downregulation of multiple proteins associated with congenital hydrocephalus (e.g., l1cam, pcdh9, islr2, adamtsl2, and b4gat1) points to a possible shared molecular foundation between congenital hydrocephalus and inph. |
2024-08-09 |
2024-08-12 |
Not clear |
| Yuqing Yao, Liyan Qiu, Xingyu Wei, Jianping Chen, Kwong Wai Choy, Guiyun Zheng, Tuyin Yang, Sisi Li, Fang Yan. Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity. Cell biochemistry and function. vol 42. issue 4. 2024-05-08. PMID:38715189. |
this study identified a rare missense variant (c.1759g>c; p.g587r) in the l1cam gene within a male fetus presenting with hydrocephalus. |
2024-05-08 |
2024-05-27 |
Not clear |
| Sotirios Sotiriou, Athina A Samara, Eleftherios Anastasakis, Athanasios Zikopoulos, Ioannis Papoulidis, Emmanouil Manolakos, Efterpi Pavlidou, Chara Skento. Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing. Cureus. vol 16. issue 2. 2024-04-01. PMID:38558627. |
prenatal identification of a missense mutation of the l1cam gene associated with hydrocephalus using next-generation sequencing. |
2024-04-01 |
2024-04-04 |
Not clear |
| Aida Kamalian, Siavash Shirzadeh Barough, Sara G Ho, Marilyn Albert, Mark G Luciano, Sevil Yasar, Abhay Mogheka. Molecular Signatures of Normal Pressure Hydrocephalus: A Large-scale Proteomic Analysis of Cerebrospinal Fluid. bioRxiv : the preprint server for biology. 2024-03-18. PMID:38496536. |
moreover, downregulation of multiple proteins associated with congenital hydrocephalus (e.g., l1cam, pcdh9, islr2, adamtsl2, and b4gat1) points to a possible shared molecular foundation between congenital hydrocephalus and inph. |
2024-03-18 |
2024-03-20 |
Not clear |
| Tatsuo Mori, Mutsuki Nakano, Takahiro Tayama, Aya Goji, Yoshihiro Toda, Shinichi Kameyama, Takeshi Mizuguchi, Maki Urushihara, Naomichi Matsumot. A female case of L1 syndrome that may have developed due to skewed X inactivation. Brain & development. 2024-03-13. PMID:38480026. |
heterozygous l1cam variants cause l1 syndrome with hydrocephalus and aplasia/hypoplasia of the corpus callosum. |
2024-03-13 |
2024-03-16 |
Not clear |
| b' Ivan \\xc5\\xa0ubrt, Tom\\xc3\\xa1\\xc5\\xa1 Zavoral, Luk\\xc3\\xa1\\xc5\\xa1 Strych, Monika \\xc4\\x8cern\\xc3\\xa1, Mark\\xc3\\xa9ta Hejnalov\\xc3\\xa1, Pavla Komrskov\\xc3\\xa1, Jitka Tejcov\\xc3\\xa. A recurrent synonymous L1CAM variant in a fetus with hydrocephalus. Human genome variation. vol 11. issue 1. 2024-01-23. PMID:38263409.' |
a recurrent synonymous l1cam variant in a fetus with hydrocephalus. |
2024-01-23 |
2024-01-26 |
Not clear |
| Qingshuang Zhao, Jianbin Ying, Junjie Jin. Hydrocephalus caused by L1CAM gene mutation in newborn. Asian journal of surgery. 2023-11-13. PMID:37957043. |
hydrocephalus caused by l1cam gene mutation in newborn. |
2023-11-13 |
2023-11-20 |
Not clear |
| Wendy Yang, Szu-Chieh Chen, Tse-En Wang, Pei-Shiue Tsai, Jeng-Chang Chen, Pei-Lung Che. L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice. Gene. vol 881. 2023-08-09. PMID:37453721. |
using next-generation sequencing (ngs), we found an l1cam de novo frameshift mutation in a female with mild hydrocephalus and skip-type hscr. |
2023-08-09 |
2023-08-16 |
mouse |
| Tiantian He, Qiang Yao, Bocheng Xu, Mei Yang, Jieni Jiang, Qingqing Xiang, Like Xiao, Shanling Liu, He Wang, Xuemei Zhan. A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus. Molecular genetics & genomic medicine. 2023-07-25. PMID:37489051. |
a novel splicing variation in l1cam is responsible for recurrent fetal hydrocephalus. |
2023-07-25 |
2023-08-14 |
Not clear |
| Phan Q Duy, Kristopher T Kahl. "Floppy brain" in congenital hydrocephalus. Cerebral cortex (New York, N.Y. : 1991). 2023-06-07. PMID:37280765. |
here, we report a clinical case of a patient who presented with fetal-onset hydrocephalus with diffusely reduced cortical and white matter volumes resulting from a genetic mutation in l1cam, a well-known hydrocephalus disease gene involved in neuronal cell adhesion and axon development. |
2023-06-07 |
2023-08-14 |
human |
| Beyhan Tüysüz, Adife Gülhan Ercan-Sençicek, Emre Özer, Nükte Göç, Cengiz Yalçınkaya, Kaya Bilguva. Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM. Turkish archives of pediatrics. 2022-08-11. PMID:35950747. |
severe phenotype in patients with x-linked hydrocephalus caused by a missense mutation in l1cam. |
2022-08-11 |
2023-08-14 |
Not clear |
| Shanshan Gao, Xuechao Zhao, Ganye Zhao, Peng Dai, Xiangdong Kon. Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports. Molecular genetics & genomic medicine. 2022-07-06. PMID:35791503. |
the molecular mutations of the l1cam gene and the imaging appearances of four fetuses with l1 syndrome from three independent chinese families with a history of hydrocephalus were reported in this study. |
2022-07-06 |
2023-08-14 |
Not clear |
| Ryo Izumi, Hironori Takahashi, Yonehiro Kanemura, Tomoko Shofuda, Ema Yoshioka, Risa Narumi, Shigeki Matsubar. Adducted thumb may not be mandatory for prenatal diagnosis of X-linked hydrocephalus in early second trimester. Taiwanese journal of obstetrics & gynecology. vol 61. issue 2. 2022-04-01. PMID:35361400. |
x-linked hydrocephalus (xlh), the most common genetic hydrocephalus, is caused by mutation of the l1 cell adhesion molecule (l1cam). |
2022-04-01 |
2023-08-13 |
Not clear |
| Maria Garcia-Bonilla, James P McAllister, David D Limbric. Genetics and Molecular Pathogenesis of Human Hydrocephalus. Neurology India. vol 69. issue Supplement. 2022-02-01. PMID:35102976. |
this review aims to discuss the genetic and molecular alterations described in human hydrocephalus, from well-characterized, heritable forms of hydrocephalus (e.g., x-linked hydrocephalus from l1cam variants) to those affecting cilia motility and other complex pathologies such as neural tube defects and dandy-walker syndrome. |
2022-02-01 |
2023-08-13 |
human |
| Ping Wang, Hong Liao, Quyou Wang, Hanbing Xie, He Wang, Mei Yang, Shanling Li. L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant. Reproductive sciences (Thousand Oaks, Calif.). 2021-12-16. PMID:34914080. |
in this study, a l1cam gene exonic missense variant (c.1108g > a, p.g370r) was identified in two induced fetuses (abnormal fetuses), who presented corpus callosum agenesis accompanied with hydrocephalus. |
2021-12-16 |
2023-08-13 |
Not clear |
| Ping Wang, Hong Liao, Quyou Wang, Hanbing Xie, He Wang, Mei Yang, Shanling Li. L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant. Reproductive sciences (Thousand Oaks, Calif.). 2021-12-16. PMID:34914080. |
the findings of this study suggest a potential possibility of l1cam gene screening for prenatal diagnoses for fetuses presented corpus callosum agenesis accompanied with hydrocephalus. |
2021-12-16 |
2023-08-13 |
Not clear |
| Dejun Yang, Hongwei Yang, Gabrielle Luiselli, Charles Ogagan, Huijun Dai, Lucinda Chiu, Rona S Carroll, Mark D Johnso. Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus. Proceedings of the National Academy of Sciences of the United States of America. vol 118. issue 33. 2021-12-01. PMID:34380733. |
increased plasmin-mediated proteolysis of l1cam in a mouse model of idiopathic normal pressure hydrocephalus. |
2021-12-01 |
2023-08-13 |
mouse |
| 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 |