Norrie Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
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Parker, Ph. Many sites provide valuable information, while others may have information that is unreliable or misleading. Since only the smallest fraction of information dealing with Norrie disease is indexed in search engines, such as www. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about Norrie disease, using the most advanced research tools available and spending the least amount of time doing so.
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In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to Norrie disease, from the essentials to the most advanced areas of research. Special attention has been paid to present the genetic basis and pattern of inheritance of Norrie disease.
Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on Norrie disease. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet.
While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to Norrie disease, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned clicking on a hyperlink automatically opens your browser to the site indicated. If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser.
You may find it useful to refer to synonyms or related terms when accessing these Internet databases. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. We hope these resources will prove useful to the widest possible audience seeking information on Norrie disease. For those interested in basic information about Norrie disease, we begin with a condition summary published by the National Library of Medicine.
In addition, a summary of the gene or chromosome related to Norrie disease is provided. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises colored portions of the eyes or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts cloudiness in the lens of the eye may eventually develop.
Other problems may include mild to moderate mental retardation, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction. How Common Is Norrie Disease?
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Norrie disease is a rare disorder; its exact incidence is unknown. It is not associated with any specific racial or ethnic group. The NDP gene produces a protein called norrin, which is believed to be crucial to normal development of the eye and other body systems. In particular, it seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities.
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It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear. Mutations in this gene result in a protein that cannot perform its normal functions, thus causing the signs and symptoms of Norrie disease. This condition is inherited in an X-linked recessive pattern. A condition is considered Xlinked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.
In males who have only one X chromosome one altered copy of the gene in each cell is sufficient to cause the condition. In females who have two X chromosomes a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier.
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She can pass on the gene, but generally does not experience signs and symptoms of the disorder. In rare cases, however, carrier females have shown some retinal abnormalities or mild hearing loss associated with Norrie disease. You may find the following resources about Norrie disease helpful. These materials are written for the general public. Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. Invest Ophthalmol Vis Sci.
Norrie disease and peripheral venous insufficiency. Br J Ophthalmol. No abstract available. A novel mutation in the Norrie disease gene. Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. Sequence analysis and transcript identification within 1. The NDP gene is also known by other names, listed below.
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The NDP gene provides instructions for making a protein called norrin. This protein is believed to be crucial to normal development of the eye and other body systems. Studies 7 layer at the back of the eye that senses light and color and the establishment of a blood supply to tissues of the retina and the inner ear. These mutations interfere with the role of the norrin protein in the specialization of retinal cells for their unique sensory function.
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As a result, masses of immature retinal cells accumulate in the back of the eyes. Disruption of norrin's role in the establishment of blood vessels supplying the eye eventually causes some of the tissues to break down. Cytogenetic Location: Xp More precisely, the NDP gene is located from base pair 43,, to base pair 43,, on the X chromosome. J Biomed Sci. Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.
J Hum Genet. Government supports a variety of research studies relating to Norrie disease. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to Norrie disease. Studies 9 animals or simulated models to explore Norrie disease. This program arises from the perceived benefits of integrated training in the fundamental principles which shape the function of all of our senses and is guided by the following conceptual framework: I The sensory systems of the human body are fundamental contributors to the health and well-being of people and are critical substrates for disease processes.
II These neural systems share many core mechanisms of organization and function, which are especially apparent at the cellular, molecular and genetic levels. III Common mechanisms are also reflected in sensory pathologies- specific disease processes often impact multiple sensory systems. IV Graduate and postdoctoral research training which integrates cellular, molecular and genetic aspects over a range of sensory systems will enhance the ability of trainees to conduct innovative healthrelated research. Core mechanisms span multiple sensory systems as do disease processes e. Thus, there is a need for research training, which integrates across the traditional boundaries of each special-sense tissue.
The proposed training faculty consists of 12 members with expertise in the auditory, chemosensory, mechanosensory and visual systems. Faculty research approaches range from mutagenesis and molecular genetics through cell and molecular biology, to intact animal physiology, behavioral analysis and clinical research. The institutional resources, level of extramural support and training histories of the training faculty engender a superb training environment.
Correct specification and patterning of the photoreceptor neurons within the retina are a prerequisite for precise retinotopic axonal projections and image formation. The Drosophila eye serves as paradigm for many aspects of eye development, retinal biology and disease. The Drosophila retina is composed of a stereo-typed array of about ommatidia, or unit eyes, each containing a precise arrangement of 8 photoreceptor neurons.
The establishment of this precise arrangement requires the interplay of several signaling pathways and transcription factors, all of which are conserved and largely share equivalent functions in the mammalian eye. Strikingly, the second Fz mediated pathway, canonical a-Catenin Cat signaling, causes photoreceptor cell death and reduction of eye size.
The regulation of this signaling specificity is only poorly understood. A combination of cell culture and biochemical experiments and in vivo studies in the eye will be utilized to achieve these goals.
Several components of the Fz and Notch pathways are also critically linked to cancer and are associated with stem cell biology. Thus the information acquired in this application will advance our understanding of photoreceptor specification and eye diseases, and will also be of medical relevance in other areas, including stem cell biology.
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