Abstract:
:Mutations in the gene Crumbs homolog 1 (CRB1) are responsible for several retinopathies that are diverse in severity and phenotype. Thus, there is considerable incentive to determine how disruption of this gene causes disease. Progress on this front will aid in developing molecular diagnostics that can predict disease severity with the ultimate goal of developing therapies for CRB1 retinopathies via gene replacement. The purpose of this review is to summarize what is known regarding CRB1 and highlights information outstanding. Doing so will provide a framework toward a thorough understanding of CRB1 at the molecular and protein level with the ultimate goal of deciphering how it contributes to the disease.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Ray TA,Cochran KJ,Kay JNdoi
10.1007/978-3-030-27378-1_41subject
Has Abstractpub_date
2019-01-01 00:00:00pages
251-255eissn
0065-2598issn
2214-8019journal_volume
1185pub_type
杂志文章,评审abstract:OBJECTIVES:This study was designed to determine the clinical usefulness of the Nuclear Matrix Protein 22 (NMP 22) Test for the detection of bladder cancer in comparison to urine cytology. METHODS:One hundred sixty-four patients suffering from or being suspicious for bladder cancer and 64 healthy controls participated ...
journal_title:Advances in experimental medicine and biology
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abstract::There is a considerable body of evidence indicating that oxidative stress is a causal factor both in lipofuscinogenesis as well as in aging. Studies on the effects of pro-oxidants and antioxidants on lipofuscin accumulation in cultured rat cardiac myocytes and human glial cells indicated that pro-oxidants accelerate w...
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abstract::Serotonin or 5-HT is a biogenic amine present in the carotid body (CB) of several species as evidenced in many immunocytochemical studies and in a few biochemical measurements. Early literature on 5-HT actions in the CB in all studied species has lead to the conclusion that it does not participate in the setting of co...
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journal_title:Advances in experimental medicine and biology
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更新日期:2011-01-01 00:00:00
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abstract::Circulating tumor cells provide a non-invasive source of tumor material that can be valuable at all stages of disease management, including screening and early diagnosis, monitoring response to therapy, identifying therapeutic targets, and assessing development of drug resistance. Cells isolated from the blood of canc...
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abstract::Voltage- and ligand-gated ion channels are key elements in the etiopathogenesis of various forms of epilepsy. In this chapter, we present an overview of the functional implications of voltage-gated Ca(2+) channels in modulating internal Ca(2+) level fluctuations and generating ictiform/epileptiform cellular electrophy...
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abstract::Anthropogenically generated underwater noise in the marine environment is ubiquitous, comprising both intense impulse and continuous noise. The installation of offshore wind farms across the North Sea has triggered a range of ecological questions regarding the impact of anthropogenically produced underwater noise on m...
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更新日期:2003-01-01 00:00:00
abstract::In an attempt to identify the binding sites of myosin fragments to the nitrocellulose film in a flow cell, proteolytic digestion was performed of myosin fragments bound to the substrate. Chymotryptic digestion of papain.Mg-subfragment-1 (S1) showed that a large proportion of S1 were bound near the tail and that the di...
journal_title:Advances in experimental medicine and biology
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abstract::Juvenile neuronal ceroid lipofuscinoses (JNCL) is the most common type of the neuronal ceroid lipofuscinoses (NCLs), a group of pediatric neurodegenerative diseases. In this chapter the genetic and biochemical basis, pathogenesis, clinical features, histopathological features, diagnosis and therapeutic strategies of t...
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abstract::Syphilis is a century old sexually transmitted infection transmitted worldwide. WHO reports 12 million new cases that were identified in 1999, with over 90% of these infections reported from patients from low-income countries. This case number of syphilis is on the rise globally in the Men have sex with Men (MSM) popu...
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abstract::Angiogenesis, the process by which new blood vessels are formed from preexisting vessels, is essential for growth and progression of solid tumors. A number of growth factors regulate angiogenesis, but vascular endothelial growth factor (VEGF) is the most important. Activation of the VEGF pathway triggers a range of si...
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abstract::The processing of proglucagon in intestinal L cells results in the formation of glucagon, GLP-1, and GLP-2. The GLP-1 molecule becomes active through the effect of proconvertase 1, and it is inactivated by dipeptidyl peptidase IV (DPP-IV), so that the half-life of endogenous GLP-1 is 2-3 min. GLP-1 stimulates insulin ...
journal_title:Advances in experimental medicine and biology
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abstract::1) An extract of D. carrota induces agglutination of most serotypes of S. mutans but not of S. salivarius or S. mitis. 2) If added to a suspension of mixed bacteria, a piece of D. carrota may selectively sorb S. mutans while S. salivarius and S. mitis only are affected to a minor degree. 3) A saliva coat on the bacter...
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pub_type: 杂志文章
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更新日期:1978-01-01 00:00:00