309 research outputs found
A Primer on Cryptographic Multilinear Maps and Code Obfuscation
The construction of cryptographic multilinear maps and a general-purpose code obfuscator were two long-standing open problems in cryptography. It has been clear for a number of years that constructions of these two primitives would yield many interesting applications. This thesis describes the Coron-Lepoint-Tibouchi candidate construction for multilinear maps, as well as new candidates for code obfuscation. We give an overview of current multilinear and obfuscation research, and present some relevant applications. We also provide some examples and warnings regarding the inefficiency of the new constructions. The presentation is self-contained and should be accessible to the novice reader
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/66121/1/j.1399-0004.1994.tb04016.x.pd
A Family with Co-existing SDHB and SDHD Mutations Causing Hereditary Paraganglioma Syndrome
Introduction: We report the co-occurrence of a SDHD and a SDHB mutation in a family with hereditary paraganglioma syndrome. We compare this finding to simultaneous haploinsufficiency of BRCA1 and BRCA2.Presentation of Case: The 28 year old proband presented as an isolated case in the family with a malignant phaeochromocytoma. Sequencing and MLPA of SDHD and SDHB were performed. A SDHD splice site mutation, c.169+5GA, was identified in the proband, his sister and their father. In addition, a SDHB exon 1 deletion was identified by MLPA in the proband, his sister and their mother. Both mutations have been described previously and considered to be pathogenic. An appropriate screening programme was instituted for carrier relatives. Conclusions: To our knowledge, this is the first report of two SDH subunit mutations in a single family. Though there was no family history to suggest inherited disorder, the simultaneous testing of both genes was diagnostic. The family history is consistent with suggestions that the penetrance of SDHB/SDHD mutations is lower than initially thought
Incontinentia Pigmenti in a Newborn with NEMO Mutation
Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene
Incontinentia Pigmenti: Clinical Observation of 40 Korean Cases
Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations. The aim of this study was to clarify clinical symptoms, accompanying diseases, and complications of IP. Forty cases of IP have been reviewed by their medical records, laboratory data, clinical photographs, and telephone survey. Male-to-female ratio was 1 to 19 and their onsets were mostly in utero. They were usually diagnosed during the neonatal period owing to their early expression of skin manifestation. Central nervous system anomalies were found in 46.7%. Ocular disorders and dental defects were detected in 66.7% and 72.7% respectively. The most commonly diagnosed anomalies were hypodontia, retinopathy, and seizure. For better understanding of IP, long term and close cooperation between dermatologists, pediatricians, neuroscientists, genentic counselors, and even dentists is crucial
Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by the weakness of facial, shoulder-girdle and upper arm muscles. Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported. METHODS: To clarify the influence on the deletion of the repeats, we surveyed three different ethnic populations and FSHD patients using the BglII/BlnI dosage test. RESULTS: The frequency of translocation in 153 Japanese, 124 Korean, 114 Chinese healthy individuals and 56 Japanese 4q35-FSHD patients were 27.5%, 29.8%, 19.3%, and 32.1%, respectively. The ratio of '4 on 10' (trisomy and quatrosomy of chromosome 4) was higher than that of '10 on 4' (nullsomy and monosomy of chromosome 4) in all populations. CONCLUSIONS: The inter-chromosomal exchange was frequently observed in all four populations we examined, and no significant difference was observed between healthy and diseased groups
Dissection of Complex Molecular Interactions of Neurofascin with Axonin-1, F11, and Tenascin-R, Which Promote Attachment and Neurite Formation of Tectal Cells
Neurofascin is a member of the L1 subgroup of the Ig superfamily that promotes axon outgrowth by interactions with neuronal NgCAM-related cell adhesion molecule (NrCAM). We used a combination of cellular binding assays and neurite outgrowth experiments to investigate mechanisms that might modulate the interactions of neurofascin. In addition to NrCAM, we here demonstrate that neurofascin also binds to the extracellular matrix glycoprotein tenascin-R (TN-R) and to the Ig superfamily members axonin-1 and F11
Neurotractin, A Novel Neurite Outgrowth-promoting Ig-like Protein that Interacts with CEPU-1 and LAMP
The formation of axon tracts in nervous system histogenesis is the result of selective axon fasciculation and specific growth cone guidance in embryonic development. One group of proteins implicated in neurite outgrowth, fasciculation, and guidance is the neural members of the Ig superfamily (IgSF). In an attempt to identify and characterize new proteins of this superfamily in the developing nervous system, we used a PCR-based strategy with degenerated primers that represent conserved sequences around the characteristic cysteine residues of Ig-like domains. Using this approach, we identified a novel neural IgSF member, termed neurotractin. This GPI-linked cell surface glycoprotein is composed of three Ig-like domains and belongs to the IgLON subgroup of neural IgSF members. It is expressed in two isoforms with apparent molecular masses of 50 and 37 kD, termed L-form and S-form, respectively. Monoclonal antibodies were used to analyze its biochemical features and histological distribution. Neurotractin is restricted to subsets of developing commissural and longitudinal axon tracts in the chick central nervous system. Recombinant neurotractin promotes neurite outgrowth of telencephalic neurons and interacts with the IgSF members CEPU-1 (KD = 3 × 10−8 M) and LAMP. Our data suggest that neurotractin participates in the regulation of neurite outgrowth in the developing brain
The adhesion molecule L1 regulates transendothelial migration and trafficking of dendritic cells
The adhesion molecule L1, which is extensively characterized in the nervous
system, is also expressed in dendritic cells (DCs), but its function there has
remained elusive. To address this issue, we ablated L1 expression in DCs of
conditional knockout mice. L1-deficient DCs were impaired in adhesion to and
transmigration through monolayers of either lymphatic or blood vessel
endothelial cells, implicating L1 in transendothelial migration of DCs. In
agreement with these findings, L1 was expressed in cutaneous DCs that migrated
to draining lymph nodes, and its ablation reduced DC trafficking in vivo. Within
the skin, L1 was found in Langerhans cells but not in dermal DCs, and L1
deficiency impaired Langerhans cell migration. Under inflammatory conditions, L1
also became expressed in vascular endothelium and enhanced transmigration of
DCs, likely through L1 homophilic interactions. Our results implicate L1 in the
regulation of DC trafficking and shed light on novel mechanisms underlying
transendothelial migration of DCs. These observations might offer novel
therapeutic perspectives for the treatment of certain immunological
disorders
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