44 results about "Neurofibra" patented technology

Provided herein are PAK inhibitors and methods of utilizing PAK inhibitors for the treatment of CNS disorders such as neuropsychiatric disorders or neurofibromatosis. Also described herein are methods of utilizing PAK inhibitors for the treatment of cancer.

The present invention provides, methods end composites for the therapeutic and diagnostic use in the treatment of diseases and disorders which are caused by or associated with neurofibrillary tangles. In particular,, the Invention relates to humanized antibodies, which specifically recognize and bind to phosphorylated pathological protein tau-conformers to rnethods and compositions involving antibodies for the therapeutic and diagnostic use In the treatment of tauopathies including Alzheimer's Disease (AD).

This invention relates to methods for altering the splicing of mRNA in cells. In particular, this invention also relates to methods for increasing the ratio of wild type to misspliced forms of mRNA and corresponding encoded proteins in cells possessing a mutant gene encoding either the i) misspliced mRNA corresponding to the mutant protein or ii) a component in the splicing machinery responsible for processing the misspliced mRNA. In addition, this invention relates to treating individuals having a disorder associated with a misspliced mRNA, such as Familial Dysautonomia or Neurofibromatosis 1, by administering to such an individual a cytokinin such as kinetin.

The invention discloses a neural fibroma segmentation method combined with space guidance, and the method comprises the steps: taking nnU-Net as a trunk network, adding a space guidance branch, integrating user interaction information into a network such that the network is better segmented through user interaction on the basis of automatic segmentation; firstly, subjecting an original image to data preprocessing, and then guiding the image to be transmitted into a network with a certain probability according to label calculation space during training; during reasoning, making automatic segmentation, then enabling a user to click false positive and false negative areas to generate a guide label, generating space guidance according to the label, and transmitting the guide label and a test sample into a network together for prediction and cyclic reasoning until the user is satisfied. The deep neural network and the space guidance are combined, automatic segmentation can be completed, user guidance can also be accepted to correct segmentation, and a good segmentation result is obtained on the neurofibroma.

An EP2 agonist which may have an EP3 agonistic effect has an effect of regenerating and / or protecting nerves, and is therefore useful as a therapeutic agent for a disease of the peripheral nervous system, such as a lower or upper motor neuron disease, a nerve root disease, plexopathy, thoracic outlet compression syndrome, peripheral neuropathy, neurofibromatosis and neuromuscular transmission disease. An EP2 agonist which has an EP3 agonistic effect is a safe and effective agent for the regeneration and / or protection of nerves which has little influence on the circulatory system.

The present invention relates to variable domains of a camelid heavy-chain antibodies directed against a phosphorylated tau protein and conjugates thereof. The present invention also relates to the use of these domains or conjugates for treating or diagnosing disorders mediated by neurofibrillary tangles, neuropil threads or dystrophic neurites, such as tauopathies.

The invention provides a neurofibroma cell line, and particularly relates to a neurofibroma cell line derived from human I-type neurofibromatosis and a construction method of the neurofibroma cell line. The neurofibroma cell line has a genetic background of Chinese people and has immortality.

Disclosed are devices, systems and methods for non-invasive neuromodulation system for treating inherited or acquired retinal, choroidal and optic nerve disorders caused by acute or chronic dysregulated reduced ocular blood flow (OBF) and / or energy failure by up regulation of trigemino-vascular system (TVS), trigeminal autonomic brain reflexes (TABRs) and pancreatic trigemino-vagal reflex (TVR) through stimulation of ophthalmic nerve (V1), more specifically but not limited to SP, and CGRP containing unmyelinated C nerve fibers. The invention, in some embodiments thereof, relates to the methods for enhancing SP and CGRP expression in neurovascular tissue of the retina and choroid. The invention, in some embodiments thereof, relates to SP / CGRP mediated pathways, including those involved in vasodilatation, augmentation of OBF, RPE proliferation, prevention of apoptosis, suppressing neuroinflammation, promoting migration and differentiation of vascular endothelial cells as well as mobilization of endogenous mesenchymal stem cells (EMSCs) from the bone marrow to the circulation to accelerate tissue repair. The site of stimulation of V1 nerve includes but not limited to; nasal vestibule nasal bridge, forehead, and upper eyelids. Additionally or alternatively, the subject's sympathetic nervous system (SNS) is down regulated by sympatholytic agents specifically antioxidants. The subject's TVS and autonomic nervous system (ANS) are modulated in a manner that is effective to treat the subject for retinal, choroidal and / or optic nerve disorders. In some embodiments, the devices are handheld, portable with nose supported, having one or more intra-nasal or extra-nasal application heads. The signal can include vibration, chemical, ultrasonic, optical, electrical, hybrid electro-optical or combination of two or more of these types of stimuli. The invention, in some embodiments thereof, relates to a method for decreasing vascular resistance, enhancing vasodilatation in ophthalmic artery and its branches by the release of Vasoactive intestinal peptide (VIP),substance P and CGRP thereof increasing OBF to the retina, choroid and optic nerve in subject's with acute or chronic dysregulated, reduced OBF. The invention, in some embodiments thereof, is also related to the methods for improving delivery of oxygen, glucose, vitamin A, humoral mediators, growth factors, stem cells and pharmacological agents to the targeted tissues of the retina, choroid and optic nerve. The invention, in some embodiments thereof, relates to the methods for improving pancreatic insulin secretion, thereof to enhance glucose uptake by PRs and other retinal cells. Additionally or alternatively, the invention relates to restoration of transduction of signaling in cone PRs by ONS induced glutamate release. The methods of the invention, in some embodiments thereof, include priming of the retina choroid and optic nerve thereof to enhance the efficacy of cell transplantation therapy. The methods of the invention, in some embodiments thereof, also include identifying a subject prone to or suffering from a disease or condition associated with reduced OBF. Methods of the invention, in some embodiments thereof, may also include monitoring the subject for prophylactic treatment where the patients are at pre-clinical stage of the disease. The OBF of subjects who had received neuromodulation treatment may also be monitored for re-treatment.The present invention, in some embodiments thereof, relates to a method and / or device for treatment of dysregulated reduced blood (e.g. reduced ocular blood flow) and, more particularly, but not exclusively, to methods and / or devices for treatment retinal, choroidal and optic nerve disorders. Optionally, treatment may include application of an effective amount of ONS ophthalmic nerve stimulation alone and / or in combination with pen-ocular administration of substance Neuropeptides / Platelet Rich Plasma (N / PRP) and / or ascorbic acid as a sympatholytic agent

The present invention relates to a compound of general formula (I),and to a pharmaceutical composition comprising a compound of general formula (I) or esters or salts thereof, in association with at least one pharmaceutically acceptable vehicle; and to the use thereof for inhibiting the Neuropilin pathways in the treatment of cancer and of angiogenic diseases.

The invention provides a dihydrazone compound high in affinity with Abeta protein and Tau protein, a derivative thereof, and applications of the dihydrazone compound and the derivative. The structureof the dihydrazone compound is represented by formula I. The dihydrazone compound can be directly taken as a fluorescence probe used for detecting neurofibrillary tangles in vivo or in tissue samples;when the dihydrazone compound is adopted in nuclear medicine imaging, appropriate radioisotopes are needed for labeling. The dihydrazone compound is especially suitable to be used for diagnosis of neurodegenerative diseases, and diagnosis of patients with diseases with Abeta plaques including Alzheimer's disease.

The invention relates to a new mutant pathogenic gene of NF1 associated with neurofibromatosis type 1 disease, and belongs to the field of molecular biology. The nucleic acid sample of the new mutantpathogenic gene has a nucleotide change of c.738delA as compared with the nucleotide sequence of the NF1 gene shown in SEQ ID NO: 1. The invention also relates to a mutant protein encoded by the newmutant pathogenic gene. The present invention discloses that the c.738delA site mutation of the NF1 gene is associated with neurofibromatosis type 1 disease for the first time, and provides application of the new mutant pathogenic gene in preparing reagents or kits for detecting or screening the NF1 pathological change. Furthermore, screening kits for neurofibromatosis type1 disease are provided,more mutant genes of neurofibromatosis type 1 disease are improved, and more reliable guidance for timely detection and treatment of patients is provided.

A method for treating a neurofibroma, e.g. dermal neurofibroma, a subdermal neurofibroma, or a superficial plexiform neurofibroma, in a subject in need of such treatment is disclosed. The method comprises locally applying a composition to a neurofibroma either topically or intralesionally. This method does not encompass systemic administration of the composition to the subject to have an effect on the neurofibromas. Compositions useful for such treatments and methods of preparing the compositions are disclosed.

The invention provides fluorescence-labeled pyrazine compounds for beta-amyloid plaques and neurofibrillary tangles. The general structural formula of the compounds is as shown in a formula (I) or a formula (II) which is described in the specification. In the formula, n is 1, 2 or 3. The invention also provides a preparation method and application of the compounds. The compounds can be directly used as a developer for detecting or developing beta-amyloid plaques or neurofibrillary tangles in the tissue of animal or human bodies. The compounds are especially applicable to preparation of developers or diagnosis medicines used for direct detection and diagnosis of beta-amyloid deposit diseases or neurofibrillary tangle diseases including the Alzheimer disease.

Disclosed is a method for preventing or treating an undesirable condition in a subject carrying cells homozygous null for the neurofibromatosis type 1 gene or subjects that are haploinsufficient for the neurofibromatosis type 1 gene, the method comprising administering to a subject in need thereof an effective amount of a schweinfurthin or schweinfurthin analog or derivative, or a pharmaceutically acceptable salt, prodrug, hydrate, or solvate thereof. Also disclosed is a new schweinfurthin compound of the formula.

The invention provides a method of inducing neurofibromatosis type 2 (NF2) in Schwann cells. The method comprises contacting the cells with laminin-1 so as to bind α6β1 integrin sufficiently to activate endogenous kinase Cdc42-Pak; and phosphorylating Schwannomin-S518 in the cells by the activated kinase, effectively inactivating. Schwannomin's tumor suppressor activity and allowing proliferation of subconfluent Schwann cells, thereby modeling NF2. The invention also includes a method of preventing a Schwann cell from forming a tumor by contacting the cell with an amount of tyrphostin AG825 sufficient to inhibit a receptor selected from ErB2, ErB3, β1 integrins and combinations thereof, so as to prevent phosphorylation of Schwannomin-S815 by one or more endogenous kinases.

A transgenic non-human animal model for Neurofibromatosis type 1, wherein the Nf1 gene is specifically inactivated in BC cells and derivatives thereof. Also, an in vitro method of producing cutaneous and plexiform Neurofibromas (NFBs) and / or for studying the development and composition of plexiform NFBs, including culturing in vitro Prss56-expressing cells and-derivatives thereof obtained from the transgenic non-human animal model. Further, a method for screening a candidate compound for use as a drug to treat Neurofibromatosis type 1, cutaneous NFBs and / or plexiform NFBs including contacting the candidate compound Prss56-expressing cells and-derivatives thereof obtained from the transgenic non-human animal model or administering the candidate compound to the transgenic non-human animal model.

The invention discloses application of sodium phenylbutyrate and metabolites thereof in preparation of a medicine for preventing or treating chemotherapy-induced peripheral neuropathic pain. Animal experiments prove that the sodium phenylbutyrate has a remarkable analgesic effect on paclitaxel-induced peripheral neuropathic pain of a mouse, the mechanical pain foot retraction threshold value of the mouse can be obviously increased, the photo-thermal pain foot retraction incubation period of the mouse is obviously prolonged, and the condition of demyelination of medullary nerve fibres in sciatic nerves of the mouse caused by paclitaxel is improved. The sodium phenylbutyrate can be used for preparing the medicine for preventing or treating chemotherapy-induced peripheral neuropathic pain, has no obvious toxic or side effect, and has a good application prospect.

The invention relates to a PI3K inhibitor for use in the treatment of neurofibromatosis type 1 and type 2 in a subject in need thereof. Currently there are no treatment of neurofibromatosis type 1 and 2. Patients mainly received supportive care to treat severe symptoms including surgery to remove tumors compressing nearby tissue or damaging organs, stereotactic radiosurgery or cochlear implants. Inventors have worked on immortalized NF1− / − cells and shown that PIK3CA pharmacological inhibition (BYL719) was associated with increased apoptosis as assessed by PARP cleavage in a dose dependent manner. They also decided to expose NF1− / − cells to a multitargeted therapy including BYL719+selumetinib or BYL719+selumetinib+IPA-3. Importantly, they found that both combinations led to severe apoptosis with double strand DNA break as assessed by the phosphorylation of H2aX. This new approach with either BYL719 alone or in combination with other therapeutics seem to be very promising in patients with neurofibromatosis.

The invention concerns a method for the determination of data for the preparation of presymptomatic or prenatal diagnosis of phakomatosis, in particular, a tumor suppressor gene disease, in a high-risk patient, in particular of neurofibromatosis, comprising the steps of: making available the tumor material from a person afflicted with the tumor suppressor gene disease, who is a relative of the high-risk patient; isolating tumor DNA from the tumor in the relative; isolating blood DNA from the blood of the relative; amplifying polymorphous DNA microsatellite markers from the tumor and the blood; separating the markers by length; observing the lengths of the markers; comparing the markers from the blood and the tumor; examining for a loss of alleles; optionally, comparing amplified markers from a second tumor of the relative; and amplifying polymorphous DNA microsatellite markers from the blood of an offspring and separating and observing the markers.

Presently claimed invention related to a pharmaceutical composition comprising ascorbic acid, caffeoylquinic acid, rosmarinic acid. and glycosyl sulfones obtained from Ocimum Sanctum and a process for isolating said composition from Ocimum Sanctum. Presently claimed invention also provides a method of treating neural crest derived tumors such as malignant neurofibroma and melanoma.

The invention relates to a polypeptide, wherein said polypeptide comprises or consists of an EGF-like domain of a neuregulin protein. The invention more over relates to a nucleic acid encoding for said polypeptide, a gene therapy vector comprising said nucleic acid and genetically modified cells expressing said polypeptide. The invention relates to the medical use of said polypeptide, said nucleic acid, said gene therapy vector or said cell for the treatment of tumours of the nervous system, in particular for the treatment of tumours of the cranial or peripheral nerves, tumours associated with neurofibromatosis, schwannomas, neurofibromas and malignant nerve sheath tumours.

The invention discloses a construction method of an Nf1 gene knockout animal model. The construction method comprises the following steps of designing gRNA for identifying an Nf1 gene; carrying out in vitro transcription to obtain Cas9mRNA and gRNA (guide Ribonucleic Acid); constructing a homologous recombinant vector; microinjecting the Cas9mRNA, the gRNA and the homologous recombinant vector into fertilized eggs of animals, and obtaining F0-generation animals; and mating a positive F0-generation animal with a wild-type animal to obtain an F1-generation animal, namely the Nf1 gene knockout animal model. The animal model is the first successfully tumorigenic I-type neurofibroma transgenic animal model in China, provides a stable and reliable in-vivo model platform for research of the occurrence and development mechanism of I-type neurofibroma and exploration of therapeutic schedules such as targeted therapy, and makes up for the deficiency of lack of related models at present.

The invention provides a method and system for generating a neurocellulose model based on Unity 3D, and a medium, and the method comprises the steps: 1, reading an OBJ file of neurocellulose accordingto StreamReader classes, obtaining the neurocellulose, and enabling each neurocellulose to comprise a plurality of line segments; 2, generating a circular bounding box by taking the line segment as acenter to obtain a neurocellulose model; and 3, reading color information RGB in a shader of the shader to obtain a neurocellulose model with gradually changed colors. The display effect and color display can be guaranteed, the method is simple, and the rendering pressure of software is relieved.

Aspects of the disclosure relate to compositions and methods of treating certain genetic disease (e.g., Neurofibromatosis type I) by delivering functional neurofibromin 1 (NF1) protein (e.g., mini-NF1 protein and / or full-length NF1 protein) to target cell (e.g., cells and / or tissue of a subject). The disclosure is based, in part, on isolated nucleic acids (e.g., rAAV vectors) and rAAVs engineered to express a functional NF1 protein (e.g., mini-NF1 protein and / or full-length NF1 protein) or variants thereof.

In some embodiments, disclosed herein are oligomeric compounds which include one or more tricyclo-deoxyribonucleic acid (tc-DNA) nucleosides and one or more 2′-modified ribonucleic acid (2′-modified-RNA) nucleosides, and which optionally also include one or more non-nucleotides, each of which is joined by a plurality of internucleoside linkages, including pharmaceutical compositions and methods of using the pharmaceutical compositions for the treatment of diseases including Duchenne muscular dystrophy treatment of familial dysautonomia, spinal muscular atrophy, ataxia telangiectasia, congenital disorder of glycosylation, fronto-temporal dementia, Parkinsonism linked to chromosome 17, Niemann-Pick disease type C, neurofibromatosis type 1, neurofibromatosis type 2, megalencephalic leukoencephalopathy with subcortical cysts type 1, Pelizaeus-Merzbacher disease, Pompe disease, myotonic dystrophy type 2 (DM2 or proximal myotonic myopathy), and myotonic dystrophy type 1 (DM1 or Steinert disease).