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In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Cockayne syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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This digital document is a journal article from DNA Repair, published by Elsevier in . The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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UV-sensitive syndrome (UV^SS) is a human DNA repair-deficient disease with mild clinical manifestations. No neurological or developmental abnormalities or predisposition to cancer have been reported. In contrast, Cockayne syndrome (CS) patients exhibit severe developmental and neurological defects, in addition to photosensitivity. The cellular and biochemical responses of UV^SS and CS cells to UV are indistinguishable, and result from defective transcription-coupled repair (TCR) of photoproducts in expressed genes. We propose that UV^SS patients develop normally because they are proficient in repair of oxidative base damage. Consistent with our model, we show that Cockayne syndrome cells from complementation groups A and B (CS-A, CS-B) are more sensitive to treatment with hydrogen peroxide than wild type or UV^SS cells. Using a host cell reactivation assay with plasmids containing UV-induced photoproducts, we find that expression of the plasmid-encoded lacZ gene is reduced in the TCR-deficient CS-B and UV^SS cells. When the plasmids contain the oxidative base lesion thymine glycol, CS-B cells are defective in recovery of expression, whereas UV^SS cells show levels of expression similar to those in wild type cells. 8-oxoguanine in the plasmids result in similarly defective host cell reactivation in CS-A and CS-B cells; abasic sites or single strand breaks in the plasmids cause similar decreases in expression in all the cell lines examined. Repair of thymine glycols in the lacZ gene was measured in plasmids extracted from transfected cells; removal of the lesions is efficient and without strand bias in all the cell lines tested. ... Read more

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This digital document is an article from Dermatology Nursing, published by Jannetti Publications, Inc. on December 1, 2004. The length of the article is 428 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

From the author: The "Clinical Snapshot" series provides a concise examination of a clinical presentation including history, treatment, patient education, and nursing measures. Using the format here, You are invited to Submit your "Clinical Snapshot" to Dermatology Nursing.

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Title: Epidermolysis bullosa simplex: localized (Weber-Cockayne type).(Clinical Snapshot)
Author: Kate de Banter
Publication: Dermatology Nursing (Refereed)
Date: December 1, 2004
Publisher: Jannetti Publications, Inc.
Volume: 16Issue: 6Page: 526(1)

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As the Baby Boomers head toward retirement, the four-volume “Encyclopedia of Aging” offers a timely resource encompassing all aspects of aging. Covering a variety of disciplines—biology, medicine, economics, law, psychology, sociology and history—the Encyclopedia also explores related issues such as religion, spirituality, and ethics.

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High Quality Content by WIKIPEDIA articles! Cockayne syndrome is a rare autosomal recessivecongenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, and premature aging. Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism. It is named after English physician Edward Alfred Cockayne. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2005. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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In addition to xeroderma pigmentosum (XP), mutations in the human XPG gene cause an early onset of Cockayne syndrome (CS) in some patients (XP-G/CS) with characteristics, such as growth retardation and a short life span. In the previous studies, we generated four Xpg mutant mice with two different C-terminal truncations, null, or a base substitution mutation to identify the protein region that causes the onset of CS, and found that the CS-causing mutations, null or a deletion of the last 360 amino acids, completely inhibited the NER activity of mouse XPG (Xpg), but the non-CS-causing mutations, XpgD811A (base substitution that eliminates the nuclease activity of Xpg) or Xpg@Dex15 (deletion of the exon 15 corresponding to the last 183 amino acids), resulted in the retention of residual NER activity. To understand why mutations that completely eliminate the NER activity of Xpg cause CS but those that abolish the nuclease activity without totally eliminating the NER activity of Xpg do not result in CS, we made a series of Xpg mutant mice with Xpa-null mutant allele and found that mice with the non-CS-causing deletion mutation (Xpg@Dex15) exhibited the CS phenotype when XPA was also absent but the base substitution mutation (XpgD811A) that eliminated the Xpg nuclease activity did not. These results indicate that Xpg has a second function, beside NER, and that the disruption of this second function (deletion of the last 183 amino acids) when combined with an NER defect causes CS. When we compared amino acid sequences corresponding to the exon 15 of Xpg, a significant homology was conserved among vertebrates, but not in Drosophila and Saccharomyces cerevisiae. These observations suggest that the second function of XPG may be conserved only in vertebrates and CS symptoms may occur in its absence. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2007. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Transcription-coupled repair (TCR) is a sub-pathway of nucleotide excision repair (NER) able to remove bulky DNA lesions located on the transcribed strands of active genes more rapidly than those located on the non-transcribed genomic DNA. Two recently published reports try to dissect the molecular mechanisms of TCR using simplified in vitro assays. A third report shows in vivo data that confirmed the in vitro ones and extends them to the role of other TCR factors such as those involved in chromatin remodeling. These approaches shed light on the interplay between stalled RNA polymerase II and NER factors necessary for efficient repair. Because severe diseases, such as Cockayne syndrome, are associated with defects or mutations in proteins required for transcription-coupled nucleotide excision repair, complete understanding of this pathway should allow us to understand this disease better and eventually to propose adequate therapies. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2004. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Preferential repair of the transcribed strand of active genes is usually attributed to a coupling protein that dislodges RNA polymerase stalled at a damage site and recruits repair enzymes. Experimental observations of the effect of transcription on preferential repair in Escherichia coli are contradictory and inexplicable by this model. In this study, it is argued that the multiple conformations displayed by a stalled RNA polymerase result in two sub-pathways for repair: Mfd coupled and direct. Together with the fact that RNA polymerase recruits the repair enzymes in a promoter dependent manner, an integrated mechanistic model is proposed that is capable of explaining the effect of transcription on preferential repair reported in literature. The quantitative behavior of the model is illustrated by describing the various reactions using a biochemical network. The implications of the model on the mechanism for transcription-coupled repair in higher organisms are briefly discussed. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in . The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Most of the studies on the effect of chromatin structure and chromatin remodeling on DNA repair are based on in vitro reconstituted assays. In such experiments individual nucleosomes are either released by nuclease digestion of native chromatin fibers or are assembled from purified histones. Though reconstituted assays are valid approaches to follow NER in chromatin they are of somehow limited physiological relevance since single core particles do not exist in vivo [K. van Holde, J. Zlatanova, The nucleosome core particle: does it have structural and physiological relevance? Bioessays 21 (1999) 776-778]. This is particularly true for studies involving core histones tails, as in their natural chromatin context histones tails participate in interactions that are not necessarily present in vitro [J.C. Hansen, C. Tse, A.P. Wolffe, Structure and function of the core histone N-termini: more than meets the eye, Biochemistry 37 (1998) 17637-17641; J.J. Hayes, J.C. Hansen, Nucleosomes and chromatin fiber, Curr. Opin. Genet. Dev. 11 (2001) 124-129]. Indeed it was found that human DNA ligase I has the capability to ligate a nick on the surface of a 215bp nucleosome but not a nick in a nucleosome lacking linker DNA, possibly because of forced interactions between histone tails and core DNA present in the latter complex [D.R. Chafin, J.M. Vitolo, L.A. Henricksen, B.A. Bambara, J.J. Hayes, Human DNA ligase I efficiently seals nicks in nucleosomes, EMBO J. 19 (2000) 5492-5501]. In addition, chromatin remodeling could also occur in the higher ordered folding of chromatin and involve multiple arrays of nucleosomes [P.J. Horn, C.L. Peterson, Chromatin higher order folding: wrapping up transcription, Science 297 (2002) 1824-1827]. By studying the chromatin structure of ribosomal genes in yeast, our knowledge of the fate of nucleosomes during transcription and DNA replication has improved considerably [R. Lucchini, J.M. Sogo, The dynamic structure of ribosomal RNA gene chromatin, in: M.R. Paule (Ed.), Transcription of Ribosomal RNA Genes by Eukaryotic RNA Polymerase I, Springer-Verlag/R.G. Landes Company, 1998, pp. 254-276]. How nuclear processes such as DNA repair take place in chromatin is still largely unknown, and in this review I discuss how the yeast rDNA locus may be exploited to investigate DNA repair and chromatin modification in vivo. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2005. The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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I have described a number of milestones along a career of nearly 40 years in DNA repair. Most important was the discovery that the human disease xeroderma pigmentosum represented mutations in various components of nucleotide excision repair. This ushered in a new field of research involving numerous investigators and which continues to expand and amaze. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in . The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Decondensation of chromatin is essential to facilitate access to DNA metabolizing processes such as transcription and DNA repair. Disruption of histone-DNA contacts by histone modification or by ATP dependent chromatin remodelling allows DNA-binding proteins to compete with histones for DNA. The efficiency of global genome nucleotide excision repair (GGR) that removes a variety of helix distorting DNA lesions is known to be affected by chromatin structure most notably demonstrated by the slow repair of heterochromatin. In addition, the efficiency of GGR to repair lesions in transcriptionally active genes requires functional CSA and B proteins. We found that repair of UV-photolesions in both strands of the active adenosine deaminase gene was delayed in CS cells when compared to normal human fibroblasts. We suggest that the lack of transcription recovery characteristic for CS cells exposed to DNA damaging agents, might lead to changes in the chromatin structure of active genes, causing less efficient repair of lesions in these genes when compared to normal cells. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in . The article is delivered in HTML format and is available in your Amazon.com Media Library immediately after purchase. You can view it with any web browser.

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Epidermal keratinocytes constitute the most relevant cellular system in terms of DNA damage because of their continuous exposure to UV light and genotoxic chemicals from the environment. Here, we describe the establishment of long-term keratinocyte cultures from the skin of wild-type and nucleotide excision repair (NER) deficient mouse mutants. The use of media with a lowered calcium concentration and the inclusion of keratinocyte growth factor (KGF) permitted repeated passaging of the cultures and resulted in the generation of stable cell lines that proliferated efficiently. The cells retained their normal ability to engage into terminal differentiation when triggered with high calcium concentrations or after suspension in semi-solid medium. The cultures reflected the cellular characteristics (i.e. repair and transcription profiles) of the Xpa^-^/^-, Xpc^-^/^-, Csb^-^/^- and Xpd^T^T^D mouse models from which they were derived. For instance, in line with earlier in vivo results, Xpd^T^T^D keratinocytes were disturbed in their ability to terminally differentiate in vitro. This was concluded from a delay in calcium-induced stratification and by reduced transcription of both early (keratin 10) and late (loricrin) terminal differentiation marker genes. UDS measurements in wild-type cells committed to terminal differentiation did not reveal any reduction in global DNA repair that could be indicative of differentiation associated repair (DAR) as found in neurons. UV sensitivity data revealed that in keratinocytes global genome repair contributes more to cell survival than previously concluded from fibroblast studies. It is inferred that these fully controllable in vitro cultures will be a valuable tool to assess critical parameters of genome care-taking systems in cell proliferation and differentiation. ... Read more