Ceroid: A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.Serine Proteases: Peptide hydrolases that contain at the active site a SERINE residue involved in catalysis.Thiolester HydrolasesDipeptidyl-Peptidases and Tripeptidyl-Peptidases: A subclass of exopeptidases that includes enzymes which cleave either two or three AMINO ACIDS from the end of a peptide chain.Aminopeptidases: A subclass of EXOPEPTIDASES that act on the free N terminus end of a polypeptide liberating a single amino acid residue. EC 3.4.11.Lipofuscin: A naturally occurring lipid pigment with histochemical characteristics similar to ceroid. It accumulates in various normal tissues and apparently increases in quantity with age.Lipidoses: Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.Lysosomal Storage Diseases, Nervous System: A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.Lysosomes: A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Pigments, Biological: Any normal or abnormal coloring matter in PLANTS; ANIMALS or micro-organisms.Molecular Chaperones: A family of cellular proteins that mediate the correct assembly or disassembly of polypeptides and their associated ligands. Although they take part in the assembly process, molecular chaperones are not components of the final structures.Cathepsin F: A lysosomal papain-related cysteine proteinase that is expressed in a broad variety of cell types.Endopeptidases: A subclass of PEPTIDE HYDROLASES that catalyze the internal cleavage of PEPTIDES or PROTEINS.Dolichol: Eicosamethyl octacontanonadecasen-1-o1. Polyprenol found in animal tissues that contains about 20 isoprene residues, the one carrying the alcohol group being saturated.Cystaphos: Proposed as an adjuvant to cancer chemotherapy; may have radiation protective properties.Cathepsin D: An intracellular proteinase found in a variety of tissue. It has specificity similar to but narrower than that of pepsin A. The enzyme is involved in catabolism of cartilage and connective tissue. EC 3.4.23.5. (Formerly EC 3.4.4.23).Dog Diseases: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Sheep Diseases: Diseases of domestic and mountain sheep of the genus Ovis.Subdural Space: Potential cavity which separates the ARACHNOID MATER from the DURA MATER.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Triazines: Heterocyclic rings containing three nitrogen atoms, commonly in 1,2,4 or 1,3,5 or 2,4,6 formats. Some are used as HERBICIDES.Congresses as Topic: Conferences, conventions or formal meetings usually attended by delegates representing a special field of interest.Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Vitamin U: A vitamin found in green vegetables. It is used in the treatment of peptic ulcers, colitis, and gastritis and has an effect on secretory, acid-forming, and enzymatic functions of the intestinal tract.ArchivesBiological Science Disciplines: All of the divisions of the natural sciences dealing with the various aspects of the phenomena of life and vital processes. The concept includes anatomy and physiology, biochemistry and biophysics, and the biology of animals, plants, and microorganisms. It should be differentiated from BIOLOGY, one of its subdivisions, concerned specifically with the origin and life processes of living organisms.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Tibet: An autonomous region located in central Asia, within China.Sialorrhea: Increased salivary flow.Organotin Compounds: Organic compounds which contain tin in the molecule. Used widely in industry and agriculture.Electronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.Spectrometry, Mass, Electrospray Ionization: A mass spectrometry technique used for analysis of nonvolatile compounds such as proteins and macromolecules. The technique involves preparing electrically charged droplets from analyte molecules dissolved in solvent. The electrically charged droplets enter a vacuum chamber where the solvent is evaporated. Evaporation of solvent reduces the droplet size, thereby increasing the coulombic repulsion within the droplet. As the charged droplets get smaller, the excess charge within them causes them to disintegrate and release analyte molecules. The volatilized analyte molecules are then analyzed by mass spectrometry.Trialkyltin Compounds: Organometallic compounds which contain tin and three alkyl groups.Diagnosis-Related Groups: A system for classifying patient care by relating common characteristics such as diagnosis, treatment, and age to an expected consumption of hospital resources and length of stay. Its purpose is to provide a framework for specifying case mix and to reduce hospital costs and reimbursements and it forms the cornerstone of the prospective payment system.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Evidence-Based Medicine: An approach of practicing medicine with the goal to improve and evaluate patient care. It requires the judicious integration of best research evidence with the patient's values to make decisions about medical care. This method is to help physicians make proper diagnosis, devise best testing plan, choose best treatment and methods of disease prevention, as well as develop guidelines for large groups of patients with the same disease. (from JAMA 296 (9), 2006)Housing for the Elderly: Housing arrangements for the elderly or aged, intended to foster independent living. The housing may take the form of group homes or small apartments. It is available to the economically self-supporting but the concept includes housing for the elderly with some physical limitations. The concept should be differentiated from HOMES FOR THE AGED which is restricted to long-term geriatric facilities providing supervised medical and nursing services.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Practice Guidelines as Topic: Directions or principles presenting current or future rules of policy for assisting health care practitioners in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery.Advisory Committees: Groups set up to advise governmental bodies, societies, or other institutions on policy. (Bioethics Thesaurus)Health Planning Guidelines: Recommendations for directing health planning functions and policies. These may be mandated by PL93-641 and issued by the Department of Health and Human Services for use by state and local planning agencies.Health Personnel: Men and women working in the provision of health services, whether as individual practitioners or employees of health institutions and programs, whether or not professionally trained, and whether or not subject to public regulation. (From A Discursive Dictionary of Health Care, 1976)United States Food and Drug Administration: An agency of the PUBLIC HEALTH SERVICE concerned with the overall planning, promoting, and administering of programs pertaining to maintaining standards of quality of foods, drugs, therapeutic devices, etc.Pharmacology: The study of the origin, nature, properties, and actions of drugs and their effects on living organisms.Drug-Related Side Effects and Adverse Reactions: Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals.Pharmacology, Clinical: The branch of pharmacology that deals directly with the effectiveness and safety of drugs in humans.Attitude of Health Personnel: Attitudes of personnel toward their patients, other professionals, toward the medical care system, etc.Adverse Drug Reaction Reporting Systems: Systems developed for collecting reports from government agencies, manufacturers, hospitals, physicians, and other sources on adverse drug reactions.

Morphological study on pigmented cells in the horse testis. (1/32)

One of the most attractive characteristics of a horse testis is the change of the weight during development. As the testicular weight changes and the number of Leydig cells decreases, pigments appear in interstitial tissues. In the present study, the characteristics of the pigments found in the interstitial tissues were examined histochemically and ultrastructurally. Specific stainings indicated that the pigmented granules showed almost all of the histological and histochemical characteristics of ceroid or ceroid-like pigment. The cells showed positive reaction for acid phosphatase while the pigmented cells contained a lot of lysosomes ultrastructurally. These results suggest that macrophages might phagocytize Leydig cells, and store their digested materials as ceroid-like pigment.  (+info)

Inducible nitric oxide synthase colocalizes with signs of lipid oxidation/peroxidation in human atherosclerotic plaques. (2/32)

OBJECTIVE: Advanced human atherosclerotic plaques are characterized by the abundant presence of the autofluorescent non-soluble lipid pigment ceroid, consisting of oxidized lipoproteins. The aim of the present study was to examine the topographical and cellular distribution of inducible nitric oxide synthase (iNOS or NOS II) within different stages of atherosclerosis and its colocalization with ceroid deposits and nitrotyrosine. METHODS AND RESULTS: Different stages of atherosclerosis were studied by immunohistochemistry on whole-mount longitudinal sections of carotid endarterectomy specimens. In the adaptive intimal thickening the predominant cell type were smooth muscle cells. The fatty streaks contained both smooth muscle cells and macrophages with an extremely low NOS II immunoreactivity. The advanced atherosclerotic plaques however, showed a very dense infiltration by macrophages, of which a subpopulation expressed NOS II as a vesicular immunoreactivity in their cytoplasm. These were mainly present around the necrotic core, in association with ceroid accumulation and nitrotyrosine. Fluorescence quenching microscopy showed the presence of NOS II on autofluorescent ceroid vesicles in the macrophages. Large extracellular ceroid granules were not NOS II immunoreactive. NOS II mRNA was detected by RT-PCR and the protein by Western blot in the plaque tissue but not in mammary arteries used as controls. CONCLUSION: Ceroid, nitrotyrosine and NOS II colocalized in late stages of atherosclerosis and were found around the necrotic core in the plaque. This could suggest that NOS II expression in macrophages is involved in oxidation and peroxidation of lipids, leading to ceroid formation.  (+info)

Proteasome inhibition by lipofuscin/ceroid during postmitotic aging of fibroblasts. (3/32)

We have studied the effects of hyperoxia and of cell loading with artificial lipofuscin or ceroid pigment on the postmitotic aging of human lung fibroblast cell cultures. Normobaric hyperoxia (40% oxygen) caused an irreversible senescence-like growth arrest after about 4 wk and shortened postmitotic life span from 1-1/2 years down to 3 months. During the first 8 wk of hyperoxia-induced 'aging', overall protein degradation (breakdown of [(35)S]methionine metabolically radiolabeled cell proteins) increased somewhat, but by 12 wk and thereafter overall proteolysis was significantly depressed. In contrast, protein synthesis rates were unaffected by 12 wk of hyperoxia. Lysosomal cathepsin-specific activity (using the fluorogenic substrate z-FR-MCA) and cytoplasmic proteasome-specific activity (measured with suc-LLVY-MCA) both declined by 80% or more over 12 wk. Hyperoxia also caused a remarkable increase in lipofuscin/ceroid formation and accumulation over 12 wk, as judged by both fluorescence measurements and FACscan methods. To test whether the association between lipofuscin/ceroid accumulation and decreased proteolysis might be causal, we next exposed cells to lipofuscin/ceroid loading under normoxic conditions. Lipofuscin/ceroid-loaded cells indeed exhibited a gradual decrease in overall protein degradation over 4 wk of treatment, whereas protein synthesis was unaffected. Proteasome specific activity decreased by 25% over this period, which is important since proteasome is normally responsible for degrading oxidized cell proteins. In contrast, an apparent increase in lysosomal cathepsin activity was actually caused by a large increase in the number of lysosomes per cell. To test whether lipofuscin/ceroid could in fact directly inhibit proteasome activity, thus causing oxidized proteins to accumulate, we incubated purified proteasome with lipofuscin/ceroid preparations in vitro. We found that proteasome is directly inhibited by lipofuscin/ceroid. Our results indicate that an accumulation of oxidized proteins (and lipids) such as lipofuscin/ceroid may actually cause further increases in damage accumulation during aging by inhibiting the proteasome.  (+info)

Phagocytosis and macrophage activation associated with hemorrhagic microvessels in human atherosclerosis. (4/32)

OBJECTIVE: Previously, we demonstrated that activated inducible NO synthase (iNOS)-expressing foam cells in human carotid plaques often produce autofluorescent (per)oxidized lipids (ceroid). Here, we investigate whether intraplaque microvessels can provide foam cells with lipids and trigger macrophage activation. METHODS AND RESULTS: Microvessels (von Willebrand factor [vWf] immunoreactivity), activated macrophages (iNOS immunoreactivity), and ceroid were systematically mapped in longitudinal sections of 15 human carotid endarterectomy specimens. An unbiased hierarchical cluster analysis classified vascular regions into 2 categories. One type with normal vWf expression and without inflammatory cells was seen, and another type with cuboidal endothelial cells, perivascular vWf deposits, and iNOS and ceroid-containing foam cells was seen in 4 (27%) of 15 plaques. The perivascular foam cells frequently contained platelets (glycoprotein Ibalpha) and erythrocytes (hemoglobin, iron), pointing to microhemorrhage/thrombosis and subsequent phagocytosis. Similar lipid-containing cells, expressing both ceroid and iNOS, were generated in atherosclerosis-free settings by incubating murine J774 macrophages with platelets or oxidized erythrocytes and also in vivo in organizing thrombi in normocholesterolemic rabbits. CONCLUSIONS: Focal intraplaque microhemorrhages initiate platelet and erythrocyte phagocytosis, leading to iron deposition, macrophage activation, ceroid production, and foam cell formation. Neovascularization, besides supplying plaques with leukocytes and lipoproteins, can thus promote focal plaque expansion when microvessels become thrombotic or rupture prone.  (+info)

A clinical variant of familial Hermansky-Pudlak syndrome. (5/32)

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis), and (3) disorder of "ceroid" metabolism with a multisystem tissue lysosomal ceroid deposition. HPS is less uncommon in Puerto Rico, where the most important studies have been performed, but is a very rare disease in Europe. HPS basic defect remains unknown, even if an HPS-causing gene was identified in chromosome segment 10q23-q23.3, and several mutations have been reported. The aim of this article is to discuss, on the basis of a review of relevant literature, a new familial HPS clinical variant observed in 2 young sisters (aged 16 and 23 years old, respectively), characterized by the typical symptoms of this syndrome. Our patients also suffered from diffuse interstitial pulmonary disease and an unexpectedly increased platelet aggregation and were prone to bacterial infections. Interestingly, we observed urinary tract abnormality in the younger HPS sister and a porencephalic cyst in the older HPS sister; both of these developmental defects have been reported in the Cross syndrome (or oculocerebral hypopigmentation syndrome). It seems that in our patients, an overlapping of the phenotypic manifestations of different rare syndromes may be present. The presence of ceroid-like autofluorescent material in urinary sediment together with the histologic aspects and the autofluorescence of oral mucosa biopsy are consistent with a ceroid-like lipofuscin storage. HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder.  (+info)

Ascorbic acid oxidation: a potential cause of the elevated severity of atherosclerosis in diabetes mellitus? (6/32)

The exposure of mouse peritoneal macrophages to cholesterol linoleate-containing artificial lipoproteins can lead to intracellular ceroid accumulation. This can be used as a model to study the role of oxidation in macrophage uptake of lipoproteins containing unsaturated fatty acids, considered by many as a primary event in atherosclerotic plaque formation. Our studies show that ascorbic acid can both inhibit and promote the formation of ceroid in such a model system. The transition metal copper (Cu(II)) further elevates ceroid accumulation and EDTA, a metal chelator, inhibits it. When trace levels of transition metals are present, low concentrations of ascorbic acid can elevate ceroid formation. This pro- and antioxidant characteristic of ascorbic acid was confirmed by monitoring the generation of oxidants by various concentrations of ascorbic acid, assessed by benzoic acid hydroxylation or the fragmentation of BSA. We discuss these observations in the context of an apparent increase in ascorbic acid oxidation and elevated severity of atherosclerosis in diabetes mellitus.  (+info)

Diagnostic usefulness of bronchoalveolar lavage in Hermansky-Pudlak syndrome: a case with double lung cancers. (7/32)

A 65-year-old man was admitted to our hospital because of dyspnea on exertion. He had oculocutaneous albinism innately and his parents were consanguineous. His chest roentgenogram on admission showed reticulo-nodular infiltrates and cystic changes throughout both lung fields, and 7 cm mass in the left middle field. Cytology of bronchoalveolar lavage fluid (BALF) revealed macrophages containing ceroid. The diagnosis of HPS was made clinically and the tumor was diagnosed as poorly differentiated adenocarcinoma of the lung. He died of respiratory failure. By autopsy, additional well-differentiated adenocarcinoma was detected. Cytology of BALF was useful to confirm ceroid accumulation in the lung.  (+info)

Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. (8/32)

 (+info)

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In the wild a dog can roam free and exercise himself. In the city you have to make sure he gets enough exercise by walking him and Playing with him. Professional dog walkers are fine, but if you walk your dog yourself, the experience will be far more rewarding. A six-foot leash is fine and its purpose is not only to keep your dog from running away, but also to teach him that he is to stay by your side. Every client is taught how to walk his dog properly. The dog should walk and not pull you down the street. Ideally, your dog should now know enough to sit and stay when hes told to. But whats to keep him at your side when youre actually walking him? If you cant answer that one, you are in for some unpleasant experiences. One womans two great Danes pulled her down the street three times a day until the dogs saw a cat on the other side of the street. A strikingly beautiful girl, who never owned even one dog bought two English setters to promenade in the park. One day both dogs headed for the ...
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The entire head should be in proportion to the body. It should be long and lean with a well-defined stop. The skull, when viewed from above, should be oval. The skull should be of medium width, without coarseness, and should be only slightly wider at the base than at the brows. The widest part of the oval should be at the ear set. There should be a moderately defined occipital protuberance. The length of the skull from the occiput to the stop should be equal in length to the muzzle. Muzzle: brick-shaped, and the width to be in harmony with the skull. It should be level from the eyes to the top of the nose. When viewed from the side, the line of the top of the muzzle should be parallel to the line of the top of the skull. A dish or a Roman nose is objectionable. The flews should be square and pendant. The nose to be black or dark brown in colour except in white, orange and white, lemon and white or liver and white where it may be lighter. The nostrils should be wide apart and large in the ...
Legal Disclaimer: Chelation and Hyperbaric Therapy, Stem Cell Therapy, and other treatments and modalities mentioned or referred to in this web site are medical techniques that may or may not be considered "mainstream". As with any medical treatment, results will vary among individuals, and there is no implication or guarantee that you will heal or achieve the same outcome as patients herein. As with any procedure, there could be pain or other substantial risks involved. These concerns should be discussed with your health care provider prior to any treatment so that you have proper informed consent and understand that there are no guarantees to healing. THE INFORMATION IN THIS WEBSITE IS OFFERED FOR GENERAL EDUCATIONAL PURPOSES ONLY AND DOES NOT IMPLY OR GIVE MEDICAL ADVICE. No Doctor/Patient relationship shall be deemed to have arisen simply by reading the information contained on these pages, and you should consult with your personal physician/care giver regarding your medical treatment before ...
Angel got her splint on October 6 when she was about five-weeks-old, and since she would need anesthesia to manipulate her joint back in position, Eileen officially adopted her. She wanted Angel to "belong" to someone during this critical point in her young life. Afterwards Eileen had to cut the bandages twice to redo them because tiny Angel was growing. She was supposed to wear the splint for two weeks, but the specialist took it off a few days early and instead restricted her exercise for two more weeks. This means her siblings are staying with Josey for now. In the meantime, Angel (all seven pounds of her) continues to recover, entertaining herself by arranging her toys in her Great Dane size crate and wearing her leopard Doggles, while nibbling on her "Miss Porkie" snout in the sunshine. Soon the albino trio will be reunited for playtime.. Above & Beyonds mission is to put English Setters welfare first and foremost. Quinn became the canine guardian angel, perhaps a friendly ghost, to those ...
ROME — An Italian librarian who says her English setter is her family has won the right from her employer to use family sick leave to care for her ailing pet instead of having to use vacation days.
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Alle viljestyrte bevegelser i kroppen kontrolleres av hjernen. Nerveceller i hjernen kalt øvre motornevroner, setter i gang bevegelser gjennom å frigj...
Define abatement. abatement synonyms, abatement pronunciation, abatement translation, English dictionary definition of abatement. n. 1. Reduction in amount, degree, or intensity; diminution. 2. The amount lowered; a reduction. 3. Law The act of reducing something, such as a tax, for...
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Author Summary The neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative storage diseases characterized by psychomotor retardation, blindness, and premature death. NCL has been reported in several dog breeds. NCL is characterized by progressive brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin. Tibetan terriers show a late-onset and lethal NCL (age of onset 5-7 years) with an autosomal recessive inheritance. The most frequently described first symptom is blindness in twilight. In the disease progress the affected dogs often appear nervous or anxious and the lack of motor coordination becomes more severe. In the final stages of this disease, mild but also severe seizures have been observed by the owner. There are no treatment options for affected dogs. Through a genome-wide association analysis using the 127K canine Affymetrix SNP chip, we found a 1 Mb candidate genomic region and identified ATP13A2 as the most likely
Endotoxin-associated protein (EP) from Salmonella typhi activated murine resident peritoneal macrophages to produce prostaglandin E2 (PGE2). Cells from both endotoxin nonresponder (C3H/HeJ) and the endotoxin responder (C3H/OuJ) mouse strains were activated by EP. This EP-induced prostaglandin E2 production was blocked by the protein kinase C (PKC) inhibitor H-7 as well as the tyrosine kinase inhibitor genistein, suggesting the involvement of both serine and threonine phosphorylation and tyrosine phosphorylation pathways in the activation of resident peritoneal macrophages by EP. Immunoblot analysis using antiphosphoserine and antiphosphothreonine antibodies showed that EP induced the serine and threonine phosphorylation of a 14-kDa protein (p14). This phosphorylation was not induced by phorbol myristic acid or by lipopolysaccharide endotoxin. Inhibitors of PKC, PKA, and PKG did not block the phosphorylation of p14. However, the tyrosine kinase inhibitor piceatannol blocked p14 serine and ...
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Mus musculus; Rattus norvegicus; Callithrix jacchus; Hippocampus; Stratum lacunosum-moleculare; Entorhinal cortex; Piriform cortex; Episodic-like memory; Radial arm maze; GABAergic interneurons; PolyIC; Neuroinflammation; 3xTg-AD mice; SynGAP; GFAP; Dab1; F4/80; Immunohistochemistry; Alzheimers ...
Country of Origin: The Brittany (also accepted as the American Brittany, Brittany Spaniel, and Epagneul Breton) originated in the Brittany arena of France in the 1800s from crosses of the English Setter and baby Spaniels. It is a accomplished bird hunter with accomplished scenting abilities. The Brittanys pointing and retrieving abilities and top akin of accordance fabricated it accepted a allotment of hunters, decidedly poachers. Brittanys were aboriginal alien to North America in the 1920s and accustomed by the American Kennel Club in 1934 (the registered name was afflicted from Brittany Spaniel to Brittany in 1982, out of acceptance of its added setter-like hunting style), but took a while to bolt on acceptance due to the absence of a continued tail. The Brittany has boring risen in acceptance due to its baby size, amenable personality, and accomplished hunting skills. It is today the a lot of accepted arrow in acreage trials ...
Hi, Wondered if anyone could give me information regarding this. One of my English Setters Darcey has been very ill for about 6 weeks, he has been...
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases ...
Some people argue not to have getter/setters..I have a simple requirement...user should be able to creat transport packages..which application saves into database..if user wants to change some attributes of a package..app displays that package..user makes changes and then the app saves the updated package..now,without getter how will i display to user..maybe ,use a toString method which returns a string..which then I will have to be split to show in different UI elements..and to change state of an object i will need setters..or..make object immutable..so when user makes changes create a new object with same identity(database)..and then save into database ...
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a class to periodically clean old log records from the database public class LogCleaner { List _logTables = new LinkedList(); // the createXXX method is optional, and allows use something other than // the default constructor for a sub-bean public LogTable createTable() { return new LogTable(); } // you could also use setTable(LogTable logTable) public void addTable(LogTable logTable) { _logTables.add(logTable); } public class LogTable { String _name; String _timestampField; public void setName(String name) { _name = name; } public void setTimestampField(String timestampField) { _timestampField = timestampField; } @PostConstruct public void init() throws Exception { if (_name == null) throw new Exception(name is required); if (_timestampField == null) throw new Exception(timestamp-field is required); } public void cleanTable(DataSource pool) { Connection conn = null; try { conn = pool.getConnection(); ... } catch (SQLException e) { throw new ServletException(e); } finally { try { if ...
Setter for the hash method. Supports md5() and sha1() functions, and if available the hashing algorithms supported by the hash() PHP5 function or the mhash extension ...
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Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the bodys tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on "lipid" or "fat", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys. The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, with the United States and northern European populations having slightly higher frequency with an ...
The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative lysosomal storage disorders caused by the accumulation of ceroid and lipofuscin in various cell types, mainly cells of the cerebral cortex, cerebellar cortex, and retina (Dyken et al. 1988; Williams and Mole 2012). Characteristic features at onset include clumsiness; deterioration of vision and psychomotor functions; seizures; and behavioral changes. Progression of clinical features results ultimately in total disability, blindness and premature death. Although NCL affects primarily children, age of onset of symptoms varies from infancy to adulthood. The incidence of NCL is variable and ranges from 1.3 to 7 per 100,000 (Mole and Williams 2013). However, it is more common in northern European populations, particularly Finland where the incidence may reach 1 in 12,500 individuals and a carrier frequency of 1 in 70 (Rider and Rider 1988). NCLs are clinically and genetically heterogeneous. A nomenclature and classification ...
Ceroid lipofuscinosis neuronal type 8 (CLN8) Test Cost INR 30000.00 Surat Pune Jaipur Lucknow Kanpur Nagpur Visakhapatnam Indore Thane Bhopal Patna Vadodara Ghaziabad Ludhiana Coimbatore Madurai Meerut Ranchi Allahabad Trivandrum Pondicherry Mysore Aligarh best offer discount price
Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles. {ECO:0000269,PubMed:10330339, ECO:0000269,PubMed:10665500, ECO:0000269,PubMed:11241479, ECO:0000269,PubMed:11339651, ECO:0000269,PubMed:11589012, ECO:0000269,PubMed:12376936, ECO:0000269,PubMed:12414822, ECO:0000269,PubMed:12698559, ECO:0000269,PubMed:14736728, ECO:0000269,PubMed:19201763, ECO:0000269,PubMed:20340139, ECO:0000269,PubMed:21990111, ECO:0000269,PubMed:22612257, ECO:0000269,PubMed:9295267}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Diagnosis Code E75.4 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
I grew up with pedigree dogs - English Setters, Great Danes, Labradors and, most recently, Flatcoated Retrievers. Today, I share my home with an assortment of dogs, purebred and mutts. In 2008, I directed Pedigree Dogs Exposed, a BBC documentary which uncovered the extent of health and welfare problems in pedigree dogs. The film has now been shown in more than 20 countries. Campaigning for improved purebred dog health is now a great passion - one fuelled by the fear that those who currently view themselves as the guardians of pedigree dogs are, often unwittingly, the agents of their demise. My mission, then, is to continue to highlight where things have gone wrong and to encourage breeders and Kennel Clubs to embrace reform - particularly when it comes to harmful phenotypes and inbreeding ...
Purpose: : Reactions that result in the age-related accumulation of increasingly insoluble, undigestible collagen in human Bruchs membrane (BM) are only partially known. Non-enzymatic glycation is one such process and has been linked to diabetic-related complications and aging. A novel mechanism particularly relevant to smoking- and inflammation-related processes is non-enzymatic nitration (NEN). BM contains meshwork collagen IV in RPE and choriodal basement membranes as well as fibrillar collagen I in the inner and outer collagen layers. We have recently shown that NEN of basement membrane proteins can impart deleterious effects on overlying RPE cells. The present study was undertaken in order to examine the effects of NEN of fibrillar collagen I on cell-mediated remodeling and biomechanical properties of tissues. Methods: : We used an engineered tissue analog (previously developed by our group) for studying the remodeling and mechanics of collagenous tissues. Adult rat cardiac fibroblasts ...
To accelerate research into rare disorders by connecting individuals who are interested in research and who have been diagnosed with a rare disorder (or a disorder of unknown prevalence, or who are undiagnosed) with researchers who study rare diseases ...
Er det lenge siden du hørte et album fra begynnelse til slutt? På Deichman setter vi stiften på en utvalgt norsk klassiker og gir den sin fulle og fortjente oppmerksomhet.... ...
Mouse models of neuronal ceroid lipofuscinosis (NCL) exhibit many features of the human disorder, with widespread regional atrophy and significant loss of GABAergic interneurons in the hippocampus and neocortex. Reactive gliosis is a characteristic of all forms of NCL, but it is unclear whether glial activation precedes or is triggered by neuronal loss. To explore this issue we undertook detailed morphological characterization of the Cln3 null mutant (Cln3(-/-)) mouse model of juvenile NCL (JNCL) that revealed a delayed onset neurodegenerative phenotype with no significant regional atrophy, but with widespread loss of hippocampal interneurons that was first evident at 14 months of age. Quantitative image analysis demonstrated upregulation of markers of astrocytic and microglial activation in presymptomatic Cln3(-/-) mice at 5 months of age, many months before significant neuronal loss occurs. These data provide evidence for subtle glial responses early in JNCL pathogenesis.. ...
DIAGNOSIS: Kufs Disease (Adult Neuronal Ceroid Lipofuscinosis). Further inquiry revealed that the deceased had an older sibling (brother) with similar symptoms who had died some years ago with a similar neurodegenerative condition. An autopsy was not performed. DISCUSSION:. Neuronal ceroid lipofuscinosis (NCL) is a heterogenous group of neurodegenerative disorders characterized by accumulation of ceroid-lipopigment inclusions in neurones and most other cells (3,14). The typical clinical features include progressive cognitive and motor deterioration and seizures. The early classification of this group of metabolic diseases was based on age of onset and ultrastructural morphology of the lysosomes, and was divided into Infantile, Late-infantile, Juvenile and Adult forms of the disease. The initial separation of subtypes by age of onset is inaccurate as the clinical onset was found to be highly variable (3,12,14). Subsequent knowledge of some of the genetic and enzyme defect for these diseases has ...
PPT1, codes Palmitoyl-protein thioesterase, a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. Mutations cause neuronal Ceroid lipofuscinosis type 1. There are at numerous disease causing SNPs identified. ...
An age spot is an omega 3 barcode. Its the Mark of the Fish and/or the Mark of the Flax. Its the Mark of "Undegradable" Lipofuscin - or even worse, the Mark of Ceroid. Its the three Super-Villains - DHA, EPA, and ALA - General Zod, Non, and Ursa. General Zod, Non, and Ursa are t... Read More ...
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Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by {1:Arsov et al., 2011}). In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({8:Mole et al., 2005}). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of granular, curvilinear, and fingerprint profiles. ({8:Mole et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730 ...
Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by {1:Arsov et al., 2011}). In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({8:Mole et al., 2005}). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of granular, curvilinear, and fingerprint profiles. ({8:Mole et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730 ...
NEW YORK, NY and CLEVELAND, OH--(Marketwired - March 02, 2016) - AB0-201 (AAV CLN3) demonstrates promising in vivo efficacy in preclinical models IND enabling toxicology to commence in 2016 Abeona Therapeutics,…
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Tom Keer is an award-winning writer who lives on Cape Cod, Massachusetts. He is a columnist for the Upland Almanac, a Contributing Writer for Covey Rise magazine, a Contributing Editor for both Fly Rod and Reel and Fly Fish America, and a blogger for the Recreational Boating and Fishing Foundations Take Me Fishing program. Keer writes regularly for over a dozen outdoor magazines on topics related to fishing, hunting, boating, and other outdoor pursuits. When they are not fishing, Keer and his family hunt upland birds over their three English setters. His first book, a Fly Fishers Guide to the New England Coast was released in January 2011. Visit him at www.tomkeer.com or at www.thekeergroup.com.. ...
Tom Keer is an award-winning writer who lives on Cape Cod, Massachusetts. He is a columnist for the Upland Almanac, a Contributing Writer for Covey Rise magazine, a Contributing Editor for both Fly Rod and Reel and Fly Fish America, and a blogger for the Recreational Boating and Fishing Foundations Take Me Fishing program. Keer writes regularly for over a dozen outdoor magazines on topics related to fishing, hunting, boating, and other outdoor pursuits. When they are not fishing, Keer and his family hunt upland birds over their three English setters. His first book, a Fly Fishers Guide to the New England Coast was released in January 2011. Visit him at www.tomkeer.com or at www.thekeergroup.com.. ...
The molecular mechanisms leading to photoreceptor degeneration in the different NCL forms are unknown and only limited insights into the molecular mechanisms leading to neurodegeneration in the brain have been provided by studies on the nclf mouse and the OCLN6 South Hampshire sheep, two animal models of CLN6. Neither the expression of a truncated CLN6 protein, nor the extent and distribution of storage material, ER stress, or the activation of unfolded protein response correlate with the regional and temporal pattern of the neurodegenerative processes in these animal models of variant late infantile NCL. 14,32,33 Instead, the localized activation of astrocytes and the disruption of the constitutive autophagy-lysosome degradation pathway of long-lived or aggregate-prone proteins and organelles, such as mitochondria, appears to be more closely related to progressive neurodegeneration in CLN6. 14,34,35 However, neither the LC3-I/LC3-II ratio nor the expression of p62, marker proteins of the ...
NCL7 or MFSD8. Neuronal ceroid lipofuscinosis, NCL, a neuro-degenerative genetic disease, is caused by mutations in at least 8 different human genes, one of which, CLN7 (MFSD8), is associated with late infantile NCL. CLN7 is localized to lysosomes (Sharifi et al., 2010). Loss of this putative lysosomal transporter in the brain leads to lysosomal dysfunction, impaired constitutive autophagy and neurodegeneration late in the disease (Brandenstein et al. 2015 ...
Background: Hereditary canine glaucoma destroys vision in members of several dog breeds. In a previous study, the researchers collected DNA samples from large families of Basset Hounds and Bouvier des Flandres and smaller families of Dandie Dinmont Terriers and Welsh Terriers. Objective: The researchers are using these DNA samples and appropriate gene-mapping strategies to determine the chromosomal positions of the mutations responsible for glaucoma in Basset Hounds and Bouvier des Flandres. They will then use the available canine genome sequence to examine the genes that are located within these chromosomal positions to find the mutations responsible for glaucoma in these two breeds. Next they will devise DNA tests to validate the identified potential glaucoma-causing mutations; and, if the suspected mutations prove to be valid, they will immediately make the DNA tests available to breeders of Basset Hounds and Bouvier des Flandres. Finally, they will determine if the genes that contain the
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As standard setters roll out a massive reform package, we must be careful to also focus on the quality of the implementation of these reforms. This will ensure more effective supervision and hopefully prevent firms from taking on excessive -
I was born in the Nandi Hills in Kenya. I have literally lived with Kenyan athletes. It happens that my brother is David Rudishas pace setter. Many people would like to run and win a race, but the Kenyan athlete is an intimidation whenever they are on he field. It is not genetics or food, it is simply discipline and commitment. This book goes to proof the point and perhaps a chance to do better ...
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Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1) and is thus classified as a lysosomal storage disease. Pathological examination of both human and murine INCL brains reveals progressive, widespread neuroinflammation. In fact, astrocyte activation appears to be the first histological sign of disease. However, the role of astrocytosis in INCL was poorly understood. The hallmark of astrocyte activation is the up-regulation of intermediate filaments, such as glial fibrillary acidic protein (GFAP) and vimentin. The role of astrocytosis in INCL was studied in a murine model lacking PPT1 and the intermediate filaments GFAP and vimentin (triple-knockout). This murine model of INCL with attenuated astrocytosis had an exacerbated pathological and clinical phenotype. The triple-knockout mouse had a significantly shortened lifespan, and ...
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Thank you for your interest in spreading the word about Biochemical Society Transactions.. NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.. ...
Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. {ECO:0000269,PubMed:16964263, ECO:0000269,PubMed:17485642, ECO:0000269,PubMed:18413573, ECO:0000269,PubMed:20683840, ECO:0000269,PubMed:20853184, ECO:0000269,PubMed:21542062, ECO:0000269,PubMed:22296644, ECO:0000269,PubMed:22388936, ECO:0000269,PubMed:22768177, ECO:0000269,PubMed:28137957}. Note=The disease is caused by mutations affecting the gene represented in this entry. KRS has also been referred to as neuronal ceroid lipofuscinosis 12 (CLN12), due to neuronal and glial lipofuscin deposits detected in the cortex, basal nuclei and cerebellum of some patients. {ECO:0000269,PubMed:22388936 ...
Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported.To provide detailed clinical, electrophysiologic, structural, and molecular genetic findings in nonsyndromic inherited retinal degenerations associated with CLN3 mutations.A multi-institutional case series of 10 patients who presented with isolated nonsyndromic retinal disease and mutations in CLN3. Patient ages ranged from 16 to 70 years; duration of follow-up ranged from 3 to 29 years.Longitudinal clinical evaluation, including full ophthalmic examination, ...
The oldest Setter breed, Irish Setters are endearingly friendly and retain their puppy-like personality long into adulthood. Find out more with Purina.
When Antiga took over the Team Canada head-coaching job after Rio, he looked at the talent on the roster and liked what he saw, especially at the setter position. TJ Sanders played at the University of Manitoba under Garth Pischke and gained important experience leading up to the Rio Olympics. Sanders is like a coach on the floor and Antiga knows he can rely on him.. "Its true that the relationship between coach and setter is important. Its important with all the players but especially with the setter," Antiga said. "Im really happy with the way TJ plays and how he trains. He is a real competitor and I can say the same about our second setter Brett Walsh. We work well together and it will continue to improve throughout the summer.". The key, he said, is getting Sanders to "maximize our strengths and minimize our weaknesses. It depends on our opponent. I work with him on not becoming predictable. When Im doing an analysis of each opponent, its their weakness Im working to find. We also work ...
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Cher, Jennifer Aniston, Priscilla Presley and other women have become trend setters of their generation. The best way to guess when the old photo was ...
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with pathological phenotypes that auto fluorescent lipopigments present in neurons and other cell types. Over the past two decades, accumulating evidences indicates that NCLs are caused by mutations in eight different genes, including genes encoding several soluble proteins (cathepsin D, PPT1, and TPP1).[7] Mutations of gene TPP1 result in late-infantile neuronal ceroid lipofuscinosis which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome.[8] Mutations in the TPP1 gene lead to late infantile neuronal ceroid lipofuscinosis, a fatal neurodegenerative disease of childhood.[6] It has been demonstrated that a single injection of intravitreal implantation of autologous bone marrow derived stem cells transduced with a TPP1 expression construct at an early stage in the disease progression could substantially inhibit the development of ...
A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A genome-wide association study restricted this NCL locus to a 1.3 Mb region of canine chromosome 2 which contains canine ATP13A2. NCL-affected dogs were homozygous for a single-base deletion in ATP13A2, predicted to produce a frameshift and premature termination codon. Homozygous truncating mutations in human ATP13A2 have been shown by others to cause Kufor-Rakeb syndrome (KRS), a rare neurodegenerative disease. These findings suggest that KRS is also an NCL, although analysis of KRS brain tissue will be needed to confirm this prediction. Generalized brain atrophy, behavioral changes, and cognitive decline occur in both people and dogs with ATP13A2 mutations: however, other clinical features differ between the species. For example, Tibetan terriers with NCL develop cerebellar ataxia not reported in KRS patients and KRS patients exhibit parkinsonism and pyramidal dysfunction not observed in affected Tibetan ...
Rapidly Progressive to Persistent Vegetative State or Death & Visual Impairment Symptom Checker: Possible causes include Neuronal Ceroid Lipofuscinosis. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
JARVINEN O Sixth International Conference on Neuronal Ceroid-Lipofuscinoses (NCL-96), June 8-11, 1996, Gustavelund, Finland : Final program and abstracts, 1996 被引用文献1件 ...
The U.S. Food and Drug Administration today approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.
Preclinical data suggests both the delivery and the therapy are working, so far.. "This is the first demonstration of a systemic delivery route to restore CLN3 in vivo," using the specially-engineered virus, concludes a study published by Dr. Kielian and her collaborators in a recent edition of The Journal of Neuroscience.. CLN3 is the gene that shows a mutation in juvenile Batten disease. Also known as juvenile neuronal ceroid lipofuscinosis, the disease is an inherited, autosomal recessive, fatal neurodegenerative disorder.. Juvenile Batten disease occurs in children, and is often first noticeable between ages 5 and 10. The first symptom is vision loss, followed by seizures, cognitive loss and motor decline. Finally, premature death. There are no therapeutics or cure.. Its a rare but devastating disease.. But Dr. Kielians research shows, in an animal model, that the virus is an effective delivery system. It spreads through the body, even crossing the blood-brain barrier, from a single ...
Safety of direct administration of AAV2CUhCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates Academic Article ...
The U.S. Food and Drug Administration approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as…
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The in vivo oxidation of lipids and lipid-containing molecules has been discovered to be initiated by the concurrent reaction of such lipid materials with reducing sugars such as glucose, advanced gly
If you are looking for information on how to breed Dachshund dogs, I did a research and came up with important facts about breeding dachshund dogs. If you want to be a good breeder of dachshund dogs, you should know the
et.js implements the W3C Recommendation Element Traversal, published on December 22, 2008, using general functions instead of attributes. If the W3C Recommendation is supported in your user agent, it takes advantage of it, otherwise it does it the old way using DOM Level 1 methods. It is intended for the Web developers who cant afford to assume that the Web supports Element Traversal or ECMAScript 3.1 getter/setter. Add the following line inside the ...
Når furuen setter igang blomstringen er det bare å skalke luker og vente til det går over. Ellers vil alt dekkes av et lag gult pollen. Om det er varmt blir det å velge mellom kjøling og pollentørking. På fjord og vann samles det store flak med pollen, og selv rundt solen man noen ganger […]. ...
Jansky-Bielschowsky Disease (Neuronal Ceroid Lipofuscinoses): Late infantile form of neuronal ceroid lipofuscinosis (NCF). It has an onset between 2 and 4 years of age. Until that time, children appear normal or may exhibit slight delays in psychomotor development. Clinical features include seizure episodes characterized by sudden breaks in action or thought, twitching of certain facial muscles, and petit mal seizures and/or grand mal seizures. Myoclonic seizures, ataxia, muscle hypotonia, gradual intellectual deterioration, and progressive blindness may be present. A variant has been identified in individuals of Finnish descent in whom the symptoms tend to appear later, at approximately 5 to 7 years of age and progress more slowly. It is inherited as autosomal recessive traits. ...
TY - JOUR. T1 - Mutation frequency and type during ageing in mouse seminiferous tubules. AU - Martin, Sandra L.. AU - Hopkins, Craig L.. AU - Naumer, Anne. AU - Dollé, Martijn E T. AU - Vijg, Jan. PY - 2001. Y1 - 2001. N2 - Mutations arise in the germline by errors of replication, recombination and repair, and the movement of transposable elements. Transgenic mice bearing reporter genes such as lacZ have proven useful for measurements of spontaneous and induced mutation frequencies, as well as studies of the effects of ageing. In this study, testicular DNA from lacZ transgenic mice was examined for age-related effects on mutation frequency and type. The recovered transgene was tested for simple substitutions and rearrangements including transposition of endogenous mobile elements. There was no evidence for either an age-related accumulation of mutations, or for the insertion of retrotransposons into the lacZ reporter gene in the testis. We conclude that the frequency of retrotransposition of ...
DIAGNOSIS. Hydroxychloroquine myopathy.. DISCUSSION. Hydroxychloroquine (HCQ), a commonly used drug for various autoimmune conditions, is widely distributed into cardiac and skeletal muscle tissue. It is a large amphiphilic molecule that can cause both myofiber necrosis and vacuolar myopathy. It can permeate lysosomes and accumulate, leading to impaired lysosomal protein degradation and accumulation of vacuoles containing membrane phospholipids and glycogen (4). These changes are visualized on electron microscopy as curvilinear bodies and lamellar structures called myeloid bodies. Curvilinear bodies are only seen in two conditions: neuronal ceroid lipofuscinosis and myopathy secondary to HCQ or chloroquine.. Large secondary lysosomes may also be present. The hydrophobic region of the HCQ molecule interacts with membrane phospholipids causing neutralization of phosphate groups and displacement of calcium. This leads to myofiber necrosis through alterations in the plasmalemma (1). The findings of ...
This particular study found a correlation between retinal and neurologic disease using electroretinography and visual evoked potentials. Other studies have used OCT or fundus autofluorescence as a retinal screening tool for neurologic conditions," says Denise Goodwin, OD, who teaches on neuro-ophthalmic disease at Pacific University. "Ultimately, the retina is an extension of neurologic tissue in the brain; therefore, the use of the retina to screen for these conditions makes sense. The same processes that cause damage in the cortex may contribute to death of the retinal nerve fiber layer." Using functional testing methods, such as electroretinography and visual evoked potentials, investigators from the University of Eastern Finland evaluated several disease types in mouse models, including Huntingtons disease, Alzheimers and neuronal ceroid lipofuscinosis (NCL). All three disease types showed functional impairments prior to anatomical changes. For instance, in the Huntingtons disease group, ...
My lab explores two related themes, those of synapse loss and neurodegeneration. Synapse loss is an early, defining event in neurodegenerative diseases, such as Parkinsons disease. In these prolonged diseases, decreases in synapse density are the best correlates of disease progression.Yet, little is known about the pathways that maintain synapses and their roles in aging and neurodegeneration. We are characterizing a novel presynaptic mechanism for the prevention of synapse loss and neurodegeneration involving the co-chaperone Cysteine String Protein alpha. This gene is also mutated in adult-onset neuronal ceroid lipofuscinosis, a neurodegenerative disorder with lysosomal pathology. We are also screening for new synapse maintenance genes using a dissociated neuronal culture system ...
Pal, A.; Kraetzner, R.; Gruene, T.; Grapp, M.; Schreiber, K.; Groenborg, M.; Urlaub, H.; Becker, S.; Asif, A. R.; Gaertner, J. et al.; Sheldrick, G. M.; Steinfeld, R.: Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. Journal of Biological Chemistry 284 (6), pp. 3976 - 3984 (2009 ...
Definition : Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis, neuronal 3 (CLN3) gene, located at chromosome 16p12.1, which encodes for a polypeptide that may function as a chaperone involved in the folding/unfolding or assembly/disassembly of other proteins, specifically subunit C of the ATP synthase complex. Mutations at this locus have been identified in patients with Batten disease and infantile early-onset neuronal ceroid-lipofuscinoses (NCL) type 3.. Entry Terms : "NCL-3 Related Neuronal Ceroid-Lipofuscinoses Gene Mutation Detection Reagents" , "Ceroid Lipofuscinosis Gene Mutation Detection Reagents" , "Neuronal Ceroid-Lipofuscinoses (NCL) Gene Mutation Detection Reagents" , "Palmitoyl-Protein Thioesterase 1 (PPT1) Gene Mutation Detection Reagents" , "CLN3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CLN3". UMDC code : 24345 ...
Click figures for larger images - opens in new tab/window). Project 1: Investigate signaling mechanisms of PGRN and its function in the lysosomes. Progranulin (PGRN) is a secreted glycoprotein of 7.5 granulin repeats. PGRN and granulin peptides have been implicated in many processes, including tumorigenesis, diabetes, wound healing, neuronal survival and inflammation. Elevated levels of PGRN have been associated with increased tumorigenesis and invasion. Mutations in PGRN, resulting in PGRN haplo-insufficiency, are a leading cause of frontotemporal lobar degeneration with ubiquitin positive inclusions (FTLD-U). Moreover, human patient with PGRN homozygous mutations develop neuronal ceroid lipofucinosis (NCL), a lysosome storage disorder, suggesting a role of PGRN in regulating lysosomal function. However, how PGRN regulates so many cellular processes are largely unknown. We are interested in the following aspect of PGRN biology:. 1.1 Determine the function of PGRN in the lysosome. We have shown ...
Regardless of how much long feathering the individual dog carries, the crowning glory of the Irish Setter is his unique and beautiful red coat, which should gleam like a new conker. Length and quality of coat is genetic, I do not believe there is anything you can feed to a dog which will make its coat grow longer than its own genetic make up will allow. IRISH SETTER Coat condition is dictated by the animals general health and diet, how it is cared for and seasonal changes, some will moult in the summer months, and the majority of bitches are difficult to keep in condition when they come into season or after a litter, most will drop a lot of coat around that time and the condition will be lost for a while. When my own Bitches are dropping coat, I bath them every few days and brush and brush until all the dead hair is removed, the sooner its gone the sooner the new hair will start to come through ...
Read "pSAT vectors: a modular series of plasmids for autofluorescent protein tagging and expression of multiple genes in plants, Plant Molecular Biology" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Whenever I discuss with lay audiences the devastating effect genetic diseases can have on purebred dogs, I describe sebaceous adenitis (SA). A disease common in breeds like the Akita and Standard Poodle, severely affected dogs are largely hairless, covered in scale and smell terribly. There is no cure. Because the disease seldom shows itself until sexual maturity and because some affected dogs may never develop overt clinical signs, breeders cannot determine which dogs to breed. For these reasons, SA is a disease in need of a genetic test. However, designing such a test is challenging. Because of the difficulty distinguishing SA-affected from normal dogs, pedigree-dependent tests cannot be recommended. To accomplish the objectives of this study, we have devised an alternative protocol to associate a marker with SA. We have chosen the Akita breed to study because its history of bottlenecks and isolation make it ideal for this type of investigation. We believe this protocol will not only be
Lipofuscin is brown, fatty pigment granules that are most often found in the muscles of the heart. The significance of lipofuscin...
A RESCUERS ANSWERING MACHINE:. Hello: You have reached ___-____, Tender Hearts Rescue.. Due to the high volume of calls we have been receiving, please listen closely to the following options and choose the one that best describes you or your situation:. Press 1 if you have a 10-year-old dog and your 15-year-old son has suddenly become allergic and you need to find the dog a new home right away.. Press 2 if you are moving today and need to immediately place your 150 pound, 8-year-old dog.. Press 3 if you have three dogs, had a baby and want to get rid of your dogs because you are the only person in the world to have a baby and dogs at the same time.. Press 4 if you just got a brand new puppy and your old dog is havingproblems adjusting so you want to get rid of the old one right away.. Press 5 if your little puppy has grown up and is no longer small and cute and you want to trade it in for a new model.. Press 6 if you want an unpaid volunteer to come to your home TODAY and pick up the dog you no ...
Your brand has gained a strong following in recent years. Have you been surprised by the broad range of customers? I am not surprised that we see such a wide breadth of clientele-I am thrilled by it! We see mostly women ages 22 to 50 years old. We are also working on getting men involved like we saw in the 1990s.. Who inspires you most? I admire the business success of great, first generation designers: David Yurman and John Hardy. And my mother remains a driving emotional support and coach. Design wise, the great history of Indi/Pakistani granulation and detail work remains an inspiration for beauty.. Youre known for your edgy yet elegant style. Why is this crucial to your brand? I feel you have to create an identifiable style to make it as a designer. One way is to develop new techniques to hold diamonds or hold studs in place. I have worked extensively on invisible set diamonds, where there are no obvious prongs or cups over the top of the stones to hold them in place. I also developed a ...
in-package #.*swig-module-name*) (swig-defpackage ("FOO")) (swig-defpackage ("BAR")) (swig-in-package ()) (swig-def-foreign-type "COLOR" :int) (swig-defvar "RED" "ACL_ENUM___RED__SWIG_0" :type :constant) (swig-defvar "GREEN" "ACL_ENUM___GREEN__SWIG_0" :type :constant) (swig-defvar "BLUE" "ACL_ENUM___BLUE__SWIG_0" :type :constant) (swig-defvar "PURPLE" "ACL_ENUM___PURPLE__SWIG_0" :type :constant) (swig-defvar "CYAN" "ACL_ENUM___CYAN__SWIG_0" :type :constant) (swig-in-package ()) (swig-defconstant "MAX_BUF_SIZE" 1024) (swig-in-package ("FOO")) (swig-defun ("global_var1" "ACL_FOO__global_var1_get__SWIG_0" :type :getter) (:void) (:returning ((* :int) ) :strings-convert t) (make-instance ff:foreign-pointer :foreign-address (swig-ff-call))) (swig-defun ("global_var2" "ACL_FOO__global_var2_set__SWIG_0" :type :setter) ((global_var2 (:array :float 1024) )) (:returning (:void ) :strings-convert t) (let ((SWIG_arg0 global_var2)) (swig-ff-call SWIG_arg0))) (swig-in-package ()) (swig-in-package ("BAR")) ...
in-package #.*swig-module-name*) (swig-defpackage ("FOO")) (swig-defpackage ("BAR")) (swig-in-package ()) (swig-def-foreign-type "COLOR" :int) (swig-defvar "RED" "ACL_ENUM___RED__SWIG_0" :type :constant) (swig-defvar "GREEN" "ACL_ENUM___GREEN__SWIG_0" :type :constant) (swig-defvar "BLUE" "ACL_ENUM___BLUE__SWIG_0" :type :constant) (swig-defvar "PURPLE" "ACL_ENUM___PURPLE__SWIG_0" :type :constant) (swig-defvar "CYAN" "ACL_ENUM___CYAN__SWIG_0" :type :constant) (swig-in-package ()) (swig-defconstant "MAX_BUF_SIZE" 1024) (swig-in-package ("FOO")) (swig-defun ("global_var1" "ACL_FOO__global_var1_get__SWIG_0" :type :getter) (:void) (:returning ((* :int) ) :strings-convert t) (make-instance ff:foreign-pointer :foreign-address (swig-ff-call))) (swig-defun ("global_var2" "ACL_FOO__global_var2_set__SWIG_0" :type :setter) ((global_var2 (:array :float 1024) )) (:returning (:void ) :strings-convert t) (let ((SWIG_arg0 global_var2)) (swig-ff-call SWIG_arg0))) (swig-in-package ()) (swig-in-package ("BAR")) ...
2) ADJUSTING SPEED FOR OTHER THAN HORIZONTAL FLIGHT. For other than horizontal flight, speed must be constantly changed during the course. In the case of a diving target, start with a lower than estimated speed for the incoming leg; increase to what is believed the correct speed just before the midpoint of the course, and then to an increasingly greater speed for the outgoing leg. In the case of a climbing target, start the incoming leg with a greater than estimated speed and then constantly decrease the speed setting, as indicated by the tracer stream. (3) ADJUSTING DIRECTION OF LEAD INDICATING ARROW. (a) If the course is subject to cross wind or the arrow is not correctly set, the tracer stream will not cross the line of sight to the target, but will seem either high or low with respect to the target as it passes the line of sight to the target (fig. 165). (b) If the tracer is high with respect to the target, rotate the arrow so that its head moves away from the sight setter slightly. This can ...
Not all observables fire change events when the state of its underlying object changes, but they do fire a change event if the change goes through the observables setter. An example of this is Control.setEnabled(...) in SWT. If the object being observed doesnt fire change events when the value is set programmatically the observable cannot observe programmatic changes in the observed object. In these use cases it still pays to have the abstraction for get/set value but when coding against such observables its good to be aware of this behavior. Because of this its good to always set the value on the observable to ensure that change events are fired ...
The Picardy Spaniel is a breed of dog developed in France for use as a gundog. It is related to the Blue Picardy Spaniel, and still has many similarities, but the Picardy Spaniel is the older of the two breeds. It is thought to be one of the two oldest continental spaniel breeds and was favoured by the French nobility, remaining popular for hunting after the French Revolution due to its weather resistant coat that enabled it to hunt in a variety of conditions and terrain. However its popularity waned following the influx of English hunting breeds in the early 20th century. Slightly smaller than an English Setter but larger than most of its spaniel cousins, it has no major health issues although as with many breeds with pendulous ears, it can be prone to ear infections. The French Spaniel and the Picardy Spaniel are considered to be the two oldest continental breeds of spaniel. Both breeds are speculated to have stemmed from the Chien d Oysel described in the writings of Gaston Phoebus. Hunting ...
Treatment of manifestations: Treatment is currently symptomatic and palliative only. Seizures, malnutrition, gastroesophageal reflux, pneumonia, sialorrhea, depression and anxiety, spasticity, Parkinsonian symptoms, and dystonia can be effectively managed. Antiepileptic drugs (AEDs) should be selected with caution. Benzodiazepines may help control seizures, anxiety, and spasticity. Trihexyphenydate may improve dystonia and sialorrhea. Individuals with swallowing problems may benefit from placement of a gastric (G) tube.. Surveillance: Routine medical management of children and young adults with complex neurodisability will be relevant to all those affected by CLN, and may include surveillance for swallowing difficulties and recurrent aspiration and radiograph surveillance of hip joints and spine.. Agents/circumstances to avoid: Carbamazepine and phenytoin may increase seizure activity and myoclonus and result in clinical deterioration; lamotrigine may exacerbate seizures and myoclonus.. Genetic ...
Infantile neuronal ceroid (INCL): CLN1 encodes for the protein PPT1 which functions as a lysosomal enzyme.[7] ... Clinical trial number NCT00151216 for "Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid ... Jalanko Anu, Braulke Thomas (2009). "Neuronal ceroid lipofuscinoses". Biochimica et Biophysica Acta (BBA) - Molecular Cell ... It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). ...
"Neuronal Ceroid-Lipofuscinoses , GeneReviews". Genetics Home Reference. ". Late-Infantile neuronal ceroid lipofuscinosis. , U.S ... Jansky-Bielschowsky disease is an extremely rare autosomal recessive genetic disorder that is part of the neuronal ceroid ... Biochemical Society Transactions". synd/866 at Who Named It? GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis. ... Jansky-Bielschowsky disease is also known as: late-infantile Batten disease, LINCL, or neuronal ceroid lipofuscinosis. The ...
Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement. All ... "Neuronal Ceroid-Lipofuscinoses". GeneReviews. Niedermeyer, Ernst (1992). "Epileptic Syndromes: A Remarkable Contribution of EEG ...
2006). "Neuronal Ceroid Lipofuscinoses". GeneReviews (NCBI). Arsov, T; et al. (13 May 2011). "Kufs Disease, the Major Adult ... Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs). NCLs are ... 2011). "Exome-sequencing confirms DNAJC5 mutations as cause of Adult Neuronal Ceroid-Lipofuscinosis". PLoS ONE. 6 (11): e26741 ... 2011). "Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid ...
Deficiency of CTSD gene has been reported an underlying cause of neuronal ceroid lipofuscinosis (NCL).[10] ...
CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid lipofuscinosis, neuronal, 10; 610127; CTSD Ceroid lipofuscinosis ... CLN3 Ceroid-lipofuscinosis, neuronal-5, variant late infantile; 256731; CLN5 Ceroid-lipofuscinosis, neuronal-6, variant late ... CLN8 Ceroid lipofuscinosis, neuronal 1, infantile; 256730; PPT1 Ceroid-lipofuscinosis, neuronal 2, classic late infantile; ... neuronal, 7; 610951; MFSD8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant; 610003; ...
Sara Mole; Ruth Williams; Hans Goebel (10 March 2011). The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University ...
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene. The neuronal ceroid ... "Entrez Gene: CLN5 ceroid-lipofuscinosis, neuronal 5". GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses Human ... 2003). "Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3". Mol. ... 2000). "CLN-1 and CLN-5, genes for infantile and variant late infantile neuronal ceroid lipofuscinoses, are expressed in the ...
Mutations in the TPP1 gene leads to late infantile neuronal ceroid lipofuscinosis. The human gene TPP1 encodes a member of the ... Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY (August 2002). "Neuronal ceroid lipofuscinoses caused by defects in ... The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with pathological phenotypes ... Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3 ...
Epilepsy Neuronal ceroid lipofuscinosis CLN8 Krystyna E. Wiśniewski; Nanbert Zhong; Jeffrey C. Hall (2001). Batten disease: ... Northern epilepsy was not initially recognized as a Neuronal ceroid lipofuscinosis (NCL). In 1999, it was found to be the first ... ISBN 0-12-017645-9. page 125 "NEURONAL CEROID LIPOFUSCINOSIS 8 VIA THE CLN8 GENE". Prevention Genetics. Retrieved 23 March 2014 ... Warrier, V; Vieirab M; Mole SE (2013). "Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses". ...
"Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant". GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid ... Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene. GRCh38: Ensembl release 89: ... 2003). "Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis". Hum. Mutat. 21 (5): ... 2002). "Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse ...
Neuronal ceroid lipofuscinosis causes abnormal deposits of lipopigment in sweat gland epithelial cells (among other places).[81 ... Carlén, B.; Englund, E. (August 2001). "Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid ...
Mutations in this gene may cause neuronal ceroid lipofuscinosis. GRCh38: Ensembl release 89: ENSG00000101152 - Ensembl, May ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis. ... Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid- ... cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis". American Journal of Human Genetics. 89 (2): 241-52. doi: ...
Ceroid cactus Pitaya Queen of the Night Hecht, Hans (1997). Cacti & Succulents. Sterling Pub. Co. p. 76. ISBN 978-0-8069-0549-5 ... Night-blooming cereus is the common name referring to a large number of flowering ceroid cacti that bloom at night. The flowers ...
Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (October 2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations ... "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3): 810-9 ...
Bond M, Holthaus SM, Tammen I, Tear G, Russell C (2013). "Use of model organisms for the study of neuronal ceroid ...
Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid ... 2002). "Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)". Curr. Mol. Med. 2 (5): ... 2007). "Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1". Neurology. 68 (5): 387- ... 2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3 ...
GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses Aiello C, Terracciano A, Simonati A, et al. (2009). "Mutations ... 2009). "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis". Brain. 132 (Pt 3 ... 1999). "A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7". Mol. Genet. Metab. 66 (4): 337-8. doi: ... Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS (2009). "Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a ...
2000). "The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum". Hum. Mol. Genet. ... "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)". GeneReviews/NIH/NCBI/UW ... Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid ... 2004). "Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy ...
"Selection response to DNA testing for canine ceroid lipofuscinosis in Tibetan terriers". The Veterinary Journal. doi:10.1016/j. ... Tibetan Terriers can carry the genetic disease canine neuronal ceroid lipofuscinosis, called Batten disease in humans. The ...
"Entrez Gene: CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)". Perland, Emelie; Fredriksson ... Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly ... Vesa J, Peltonen L (2003). "Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode ... 1995). "Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)". Am. J. Hum. ...
He was also involved in the characterization of juvenile neuronal ceroid lipofuscinosis. He should not be confused with Henrik ...
"Glial filaments are a major brain fraction in infantile neuronal ceroid-lipofuscinosis". Acta Neuropathologica. 65 (3-4): 190- ...
Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the ... GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinoses This article incorporates text from the public domain Pfam and ... "Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis". Nature. 376 (6541): 584 ... palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. The most common mutation results in ...
2001). "Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice". Proc. Natl. Acad. Sci. U.S.A. 98 ( ...
Terman, A, Brunk, UT (1998). "On the degradability and exocytosis of ceroid/lipofuscin in cultured rat cardiac myocytes". Mech ... CS1 maint: Multiple names: authors list (link) Terman, A; Brunk, UT (1998). "Ceroid/lipofuscin formation in cultured human ... neuronal ceroid lipofuscinoses, the most common of these is Batten disease. Pathological accumulation of lipofuscin is ... "Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): ...
Neuronal ceroid lipofuscinosis (NCL) is the general name for a family of at least eight genetically separate neurodegenerative ... "eMedicine - Neuronal Ceroid Lipofuscinoses : Article by Celia H Chang". Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter ... Jul 2002). "Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3". ... Pathologically the ceroid-lipofuscin accumulates mainly in neurons and contains subunit C of the mitochondrial ATP synthase. ...
Genetic and Rare Diseases Information Center resources: Neuronal Ceroid Lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis ... Late Infantile Neuronal Ceroid Lipofuscinosis Batten Disease Biological: AAVrh.10CUCLN2 Phase 1 Phase 2 ... AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis. The safety and scientific validity of ... Neuronal Ceroid-Lipofuscinoses. Heredodegenerative Disorders, Nervous System. Neurodegenerative Diseases. Nervous System ...
Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?. Charles Shyng, Mark S. Sands ... Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe? Message Subject (Your Name) has forwarded a page to ... Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease ... Abbreviations: CNS, central nervous system; GFAP, glial fibrillary acidic protein; INCL, infantile neuronal ceroid ...
Late infantile neuronal ceroid lipofuscinosis (also known as LINCL, Jansky-Bielschowsky and late infantile CLN2/TPP1 disorder) ... The list of signs and symptoms mentioned in various sources for late infantile neuronal ceroid lipofuscinosis includes the ... in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2). ... is part of a group of progressive degenerative neurometabolic disorders known as the ceroid lipofuscinosis neuronal (CLNs). The ...
Abeona Therapeutics Highlights New Preclinical Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) Data at WORLDSymposium(TM) 2016. ... Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal pediatric lysosomal disease (LSD) caused by an autosomal recessive ... "ABO-201 has demonstrated encouraging in vivo efficacy in preclinical Juvenile Neuronal Ceroid Lipofuscinosis (JNCL; also known ... gene therapy for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL); and ABO-301 (AAV FANCC) for Fanconi anemia (FA) disorder using ...
Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level ... Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level ... Mouse models of neuronal ceroid lipofuscinosis (NCL) exhibit many features of the human disorder, with widespread regional ...
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene. Neuronal Ceroid Lipofuscinosis 3 (Batten Disease) via the CLN3 c.461-280_ ... Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene. CONTACTS. Genetic Counselors. *Genetic Counselor Team - [email protected] ... Neuronal Ceroid-Lipofuscinoses. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviewsâ„¢, ... The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative lysosomal storage disorders caused by the ...
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with pathological phenotypes ... Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY (August 2002). "Neuronal ceroid lipofuscinoses caused by defects in ... Gardiner RM (2000). "The molecular genetic basis of the neuronal ceroid lipofuscinoses". Neurological Sciences. 21 (3 Suppl): ... Mole SE, Mitchison HM, Munroe PB (1999). "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3 ...
Also known as juvenile neuronal ceroid lipofuscinosis, the disease is an inherited, autosomal recessive, fatal ...
Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through ... Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through ... The neuronal ceroid lipofuscinosis disorders. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaimans Pediatric Neurology ... Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis ...
Neuronal Ceroid-Lipofuscinoses. A group of severe neurodegenerative diseases characterized by intracellular accumulation of ... Diseases CategoryNutritional and Metabolic DiseasesMetabolic DiseasesLipid Metabolism DisordersLipidosesNeuronal Ceroid- ... autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the ...
Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis.. Goebel HH1, Schochet SS, Jaynes M, Gutmann L. ... A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs disease marked by fingerprint and ...
The term ceroid cactus (or sometimes just cereus) is used to describe any of the species of cacti with very elongated bodies, ... Some species of ceroid cacti were known as torch cactus or torch-thistle, supposedly due to their use as torches by Native ... although this general use of the word is regarded as misleading and the word ceroid or ceriform is preferred. The name cereus ...
The neuronal ceroid lipofuscinoses (NCLs) are a group of clinically and genetically heterogenenous neurodegenerative disorders ... 1999) The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 . Nature ... 2000) The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Human Molecular ... 2010) The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of ...
Genetic and Rare Diseases Information Center resources: Neuronal Ceroid Lipofuscinosis Adult Neuronal Ceroid Lipofuscinosis ... Neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten disease, represent a group of the most common (1 in 12,500) ... Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med ... The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. In laboratory ...
Lamotrigine Therapy in Juvenile Neuronal Ceroid Lipofuscinosis * * ABERG L. * Department of Pediatric Neurology, Hospital for ... Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) maps to the short arm of chromosome 1 JARVELA I. ... Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23 SHARP J. D ... Batten disease (Spielmeyer-Vogt ; juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16 GARDINER RM. ...
Synonyms: EPMR; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with ... neuronal ceroid lipofuscinosis 8 northern epilepsy variant (DOID:0110724) Alliance: disease page Synonyms: EPMR; northern ... Definition: A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by ... epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with mental retardation, ...
The tested mutation is specific to cerebellar ataxia in American Bulldog but may be present in American Bully given its origins. An another DNA test (NCL-A) is available to detect an other form of ataxia in this breed ...
Augustine E, Newhouse N, Adams H, Vierhile A, Kwon J, Marshall F, Mink J (2012) Epilepsy in juvenile neuronal ceroid ... Drack A, Augustine E, Grider T, Pearce D, Mullins R (2012) Anti-retinal antibodies in Juvenile Neuronal Ceroid Lipofuscinosis ( ... Hatonen T, Kirveskari E, Heiskala H, Sainio K, Laakso ML, Santavuori P (1999) Melatonin ineffective in neuronal ceroid ... Santavuori P, Moren R (1977) Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjogren type. ...
N. Koppang, "The English setter with ceroid-lipofuscinosis: a suitable model for the juvenile type of ceroid-lipofuscinosis in ... S. L. Hofmann and L. Petronen, "The neuronal ceroid lipofuscinoses," in The Metabolic and Molecular Bases of Inherited Disease ... R. D. Jolly, D. N. Palmer, R. H. Studdert et al., "Canine ceroid-ipofuscinoses: a review and classification," Journal of Small ... R. M. Taylor and B. R. H. Farrow, "Ceroid-lipofuscinosis in Border Collie dogs," Acta Neuropathologica, vol. 75, no. 6, pp. 627 ...
This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes associated with neuronal ceroid ... Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis Epilepsy Advanced Sequencing and CNV ...
lipofuscin/ceroid directly inhibits proteasomes.] FASEB J. 2000 Aug;14(11):1490-8. Proteasome inhibition by lipofuscin/ceroid ... we next exposed cells to lipofuscin/ceroid loading under normoxic conditions. Lipofuscin/ceroid-loaded cells indeed exhibited a ... Subject: could lipofuscin/ceroid be the main driver of aging? [Summary: normal metabolism in cells with a low turnover causes ... We have studied the effects of hyperoxia and of cell loading with artificial lipofuscin or ceroid pigment on the postmitotic ...
Genetic and Rare Diseases Information Center resources: Adult Neuronal Ceroid Lipofuscinosis Ceroid Storage Disease Neuronal ... Have a clinical diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) or late infantile neuronal ceroid lipofuscinosis ( ... Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL). The safety and ... Neuronal Ceroid Lipofuscinosis Procedure: Surgery to implant human CNS stem cells (HuCNS-SC) Drug: Medication to suppress the ...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Neuronal ceroid ... Ceroid lipofuscinosis neuronal 1; Neuronal ceroid lipofuscinosis 10 ; Neuronal ceroid lipofuscinosis 2; Neuronal ceroid ... Adult neuronal ceroid lipofuscinosis; Autosomal dominant neuronal ceroid lipofuscinosis 4B; Ceroid lipofuscinosis neuronal 1; ... Neuronal ceroid lipofuscinosis 6; Neuronal ceroid lipofuscinosis 7; Neuronal ceroid lipofuscinosis 9; Northern epilepsy See ...
Author Summary The neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative storage diseases characterized by psychomotor ...
  • The disease results from an enzyme deficiency that causes fatty compounds called ceroid to accumulate in cells. (clinicaltrials.gov)
  • NCL safnast upp kve nar sameindir fitu og pr teina ( ceroid og lipufuscin ) og er ekkt a truflun remur hv tum geta valdi sj kd mnum ( PPT1,TPP-1 og CathepsinD/CTSD ). (greining.is)