Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
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چکیده
منابع مشابه
Differential Effects of Human L1CAM Mutations on Complementing Guidance and Synaptic Defects in Drosophila melanogaster
A large number of different pathological L1CAM mutations have been identified that result in a broad spectrum of neurological and non-neurological phenotypes. While many of these mutations have been characterized for their effects on homophilic and heterophilic interactions, as well as expression levels in vitro, there are only few studies on their biological consequences in vivo. The single L1...
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BACKGROUND Vulvar cancer treatment is mostly curative, but also has high morbidity rates. In a search for markers that can identify patients at risk of metastases, we investigated the prognostic value of L1-cell adhesion molecule (L1CAM) in large series of vulvar squamous cell carcinomas (VSCCs). L1CAM promotes cell motility and is an emerging prognostic factor for metastasis in many cancer sub...
متن کاملConditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation
Hundreds of L1CAM gene mutations have been shown to be associated with congenital hydrocephalus, severe intellectual disability, aphasia, and motor symptoms. How such mutations impair neuronal function, however, remains unclear. Here, we generated human embryonic stem (ES) cells carrying a conditional L1CAM loss-of-function mutation and produced precisely matching control and L1CAM-deficient ne...
متن کاملDepartment of Clinical and Experimental Medicine Division of Clinical Genetics Final Thesis PCR Optimisation and Sequencing of L1CAM for the Verification of a Mutation in a Family with L1 Syndrome
Language English Other (specify below) ________________ Report category Licentiate thesis Degree thesis Thesis, C-level Thesis, D-level Other (specify below) L1 syndrome is an X-linked recessive disorder, characterised by congenital hydrocephalus, adducted thumbs, spastic paraplegia, agenesis of the corpus callosum and mental retardation. The disease is caused by mutations in the L1CAM gene, en...
متن کاملL1 cell adhesion molecule (L1CAM) is a strong predictor for locoregional recurrences in cervical cancer
Background L1 cell adhesion molecule (L1CAM) has been shown to be a prognostic marker in various cancer types, and has been suggested to play a role in epithelial mesenchymal transition (EMT). Here, we determined the prognostic significance of L1CAM in cervical cancer and its association with vimentin expression on tumor cells, indicative of EMT. Methods Formalin-fixed, paraffin-embedded prim...
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عنوان ژورنال:
- Journal of medical genetics
دوره 39 3 شماره
صفحات -
تاریخ انتشار 2002