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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.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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This monograph represents the first attempt to gather all aspects of Fanconi's anemia in one source. The editors are well-known for their continuous research in the field and have aptly brought together contributions containing the most up-to-date information available. The difficulties in differential diagnosis and treatment are covered; and the outlook for cure via bone marrow transplantation is included. This overview will interest specialists in human genetics as well as all those dealing with this disease. ... Read more

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Molecular Mechanisms of Fanconi Anemia will give research students a platform for further investigation, and act as a source of information regarding experimental design. Clinicians will find this title useful for its comprehensive description of Fanconi Anemia and information on the latest molecular theories underlying its causes.

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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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Fanconi anemia (FA) is a rare autosomal recessive disease characterized by chromosome instability and cancer predisposition. At least 11 complementation groups for FA have been identified, and eight FA genes have been cloned. Interestingly, the eight known FA proteins cooperate in a common pathway leading to the interaction of monoubiquitinated FANCD2 and BRCA2 in damaged chromatin. Disruption of this pathway results in the clinical and cellular abnormalities common to all FA subtypes. This review will examine the interaction of the cloned FA proteins with each other and with other DNA damage response proteins (i.e., ATM, ATR, and NBS1). Also, somatic (acquired) disruption of the FA pathway in human tumors appears to account for their chromosome instability and crosslinker hypersensitivity. ... Read more

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Students, researchers, and patients can find reliable, up-to-date and clearly written information in “The Gale Encyclopedia of Cancer,” a comprehensive survey of 120 cancers, cancer drugs, traditional and alternative treatments and diagnostic procedures.

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The Fanconi Anemia Medical Guide is a publication which has been designed to better help readers understand Fanconi Anemia. This Qontro Medical Guide has been designed with the reader in mind, and is a useful information source for readers at all levels looking to learn more about Fanconi Anemia. The Fanconi Anemia Medical Guide is highly recommended for those interested in understanding and learning more about Fanconi Anemia. ... Read more

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Chapters: Traf2, Fancg, Tsc1, Fanconi Anemia, Complementation Group C, Ralgds, Steroidogenic Factor 1, Syk, Dnm1, Smarca2, Thioredoxin, Valosin-Containing Protein, Tgf Beta Receptor 1, Sptan1, Gnaq, Apba1, Tle1, Fnbp1, Stxbp1, Neuron-Derived Orphan Receptor 1, Ccl19, Ubqln1, Ptgs1, Pax5, Unc13b, Sh3gl2, Gadd45g, Ppp2r4, Nup214, Tlr 4, Cdkn2b, Tyrp1, Xpa, Mpdz, Aprataxin, Cathepsin L1, B4galt1, Frataxin, Nek6, Shb, Anapc2, Ccl21, Psip1, Shc3, Vav2, Creb3, Gcnt1, Lhx3, Ptprd, Wdr5, Gne, Exosome Component 2, Fut7, Polr1e, Ca9, Ogn, Prkacg, Abo, Mtap, Orm1, Alpha-1-Microglobulin/bikunin Precursor, Paep, Sh2d3c, Tpm2, Germ Cell Nuclear Factor, Ptges, Vascular Endothelial Growth Inhibitor, Topors, Gldc, Prostaglandin D2 Synthase, Grin3a, Ptch1, Reck, Collagen, Type V, Alpha 1, Rgs3, Ugcg, Tenascin C, Mlana, Adipose Differentiation-Related Protein, Dnaja1, Alg2, Phosducin-Like, Man1b1, Gba2, Ifna2, Invs, Ptpn3, Tln1, Sec61b, Edf1, Rar-Related Orphan Receptor Beta, Gle1l, Dab2ip, Surf1, Psmb7, Fcn2, Pcsk5, Fpgs, Neuronal Calcium Sensor-1, Agpat2, Nudt2, Prpf4, Golm1, Torsin A, Rnf20, Pomt1, Setx, Complement Component 5, Interferon, Alpha 1, Rpl12, Gapvd1, Dbc1, Ptges2, Foxe1, Trim32, Argininosuccinate Synthetase 1, Cathepsin L2, Lrsam1, Tubb2c, Iars, Cdk5rap2, Ifnb1, Snapc3, Med22, Mapkap1, Stom, Tesk1, Nfx1, Fcn1, Dock8, Secisbp2, Collagen, Type Xv, Alpha 1, Tmod1, Snapc4, Rraga, Rab14, Dolichol Kinase, Hsd17b3, Bicd2, Klf9, Ubap1, Ccbl1, Melk, Dmrt1, Dpp7, Stoml2, Baat, Gtf3c5, Vps13a, Phpt1, Pole3, Mllt3, Fbxw2, Ctnnal1, Asporin, Atp6v1g1, Ndufb6, St6galnac4, Npdc1, Tdrd7, Sh3glb2, Entpd2, Nol8, Ostf1, Endog, Med27, Surf4, Kiaa0020, Dfnb31, Gtf3c4, Habp4, Ppp6c, Tle4, Cep110, Plaa, Dnai1, Insl4, Grhpr, Gas1, Ubap2, Sec16a, Spag8, Crat, Rnf38, Anp32b, Mrpl41, Bnc2, Golga1, Jmjd2c, Aldh1b1, Qrfp, Sit1, Chmp5, Strbp, Binding Immunoglobulin Protein, Cks2, Adamtsl1, Tmc1, Dctn3, Smc2, Lhx2, Cerberus, Surf6, Brd3, Ciz1, Lhx6, Transcr...More: http://booksllc.net/?id=11627742 ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2006. 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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The Fanconi anemia (FA) pathway consists of a unique, multi-subunit E3 ubiquitin ligase complex that is activated in a replication and DNA-damage dependent mechanism. This FA core complex possesses a putative helicase and an E3 ubiquitin ligase subunit, is assembled in both the nucleoplasm and in chromatin, and is required for the mono-ubiquitination of FANCD2, a downstream FA protein, following genotoxic stress. Clinically, absence of the FA pathway results in congenital defects, bone marrow failure, and cancer predisposition. At the cellular level, this pathway is required for chromosomal stability and cellular resistance to DNA interstrand crosslinkers (ICLs) such as mitomycin C (MMC). A general model has emerged for the FA pathway as an arm of the DNA-damage response following ICLs. This review will summarize the current understanding of the FA core complex and propose a model for its activity. ... 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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The Fanconi anemia (FA) proteins overlap with those of homologous recombination through FANCD1/BRCA2, but the biochemical functions of other FA proteins are largely unknown. By constructing and characterizing a null fancg mutant (KO40) of hamster CHO cells, we show that FancG protects cells against a broad spectrum of genotoxic agents. KO40 is consistently hypersensitive to both alkylating agents that produce monoadducts and those that produce interstrand crosslinks. KO40 cells were no more sensitive to mitomycin C (3x) and diepoxybutane (2x) than to 6-thioguanine (5x), ethylnitrosourea (3x), or methyl methanesulfonate (MMS) (3x). These results contrast with the pattern of selective sensitivity to DNA crosslinking agents seen historically with cell lines from FA patients. The hypersensitivity of KO40 to MMS was not associated with a higher level of initial DNA single-strand breaks; nor was there a defect in removing MNU-induced methyl groups from DNA. Both control and MMS-treated synchronized G1-phase KO40 cells progressed through S phase at a normal rate but showed a lengthening of G2 phase compared with wild type. MMS-treated and untreated early S-phase KO40 cells had increased levels of Rad51 foci compared with wild type. Asynchronous KO40 treated with ionizing radiation (IR) exhibited a normal Rad51 focus response, consistent with KO40 having only slight sensitivity to killing by IR. The plating efficiency and doubling time of KO40 cells were nearly normal, and they showed no increase in spontaneous chromosomal aberrations or sister chromatid exchanges. Collectively, our results do not support a role for FancG during DNA replication that deals specifically with processing DNA crosslinks. Nor do they suggest that the main function of the FA protein ''pathway'' is to promote efficient homologous recombination. We propose that the primary function of FA proteins is to maintain chromosomal continuity by stabilizing replication forks that encounter nicks, gaps, or replication-blocking lesions. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2006. 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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Fanconi anemia (FA) is a developmental and cancer predisposition disorder in which key, yet unknown, physiological events promoting chromosome stability are compromised. FA cells exhibit excess metaphase chromatid breaks and are universally hypersensitive to DNA interstrand crosslinking agents. Published mutagenesis data from single-gene mutation assays show both increased and decreased mutation frequencies in FA cells. In this review we discuss the data from the literature and from our isogenic fancg knockout hamster CHO cells, and interpret these data within the framework of a molecular model that accommodates these seemingly divergent observations. In FA cells, reduced rates of recovery of viable X-linked hypoxanthine phosphoribosyltransferase (hprt) mutants are characteristically observed for diverse mutagenic agents, but also in untreated cultures, indicating the relevance of the FA pathway for processing assorted DNA lesions. We ascribe these reductions to: (1) impaired mutagenic translesion synthesis within hprt during DNA replication and (2) lethality of mutant cells following replication fork breakage on the X chromosome, caused by unrepaired double-strand breaks or large deletions/translocations encompassing essential genes flanking hprt. These findings, along with studies showing increased spontaneous mutability of FA cells at two autosomal loci, support a model in which FA proteins promote both translesion synthesis at replication-blocking lesions and repair of broken replication forks by homologous recombination and DNA end joining. The essence of this model is that the FANC protein pathway serves to restrict the severity of mutational outcome by favoring base substitutions and small deletions over larger deletions and chromosomal rearrangements. ... 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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The article is excerpted fromGale Encyclopedia of Cancer
The resource students and researchers will turn to for reliable, up-to-date and clearly written information, the Gale Encyclopedia of Cancer is a comprehensive survey of 120 cancers, cancer drugs, traditional and alternative treatments and diagnostic procedures. The Encyclopediaincludes entries covering cancers, cancer drugs, treatments, sideeffects and diagnostic procedures. Entries typically include thefollowing elements:

• Causes and Symptoms
• Definition
• Description
• Diagnosis
• Prevention
• Resources
• Risks
• Special Concerns
• And more

An appendix provides complete contact information for cancercenters, national support groups, government agencies and researchgroups. Features include anatomical illustrations of the major bodysystems, a subject index and approximately 200 photographs and drawings. ... Read more

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This digital document is a journal article from DNA Repair, published by Elsevier in 2006. 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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The Fanconi anemia (FA) protein FANCE is an essential component of the nuclear FA core complex, which is required for monoubiquitination of the downstream target FANCD2, an important step in the FA pathway of DNA cross-link repair. FANCE is predominantly localized in the nucleus and acts as a molecular bridge between the FA core complex and FANCD2, through direct binding of both FANCC and FANCD2. At present, it is poorly understood how the nuclear accumulation of FANCE is regulated and therefore we investigated the nuclear localization of this FA protein. We found that FANCE has a strong tendency to localize in the nucleus, since the addition of a nuclear export signal does not interfere with the nuclear localization of FANCE. We also demonstrate that the nuclear accumulation of FANCE does not rely solely on its nuclear localization signal motifs, but also on FANCC. The other FA proteins are not involved in the nuclear accumulation of FANCE, indicating a tight relationship between FANCC and FANCE, as suggested from their direct interaction. Finally, we show that the region of FANCE interacting with FANCC appears to be different from the region involved in binding FANCD2. This strengthens the idea that FANCE recruits FANCD2 to the core complex, without interfering with the binding of FANCC. ... Read more

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Chapters: Ataxia Telangiectasia, Fanconi Anemia, Bloom Syndrome, Nijmegen Breakage Syndrome, Chromosome Instability Syndrome. Source: Wikipedia. Pages: 35. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: Ataxia telangiectasia (A-T) (Boder-Sedgwick syndrome or LouisBar syndrome) is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. A-T affects the cerebellum (the body's motor coordination control center) and also weakens the immune system in about 70% of the cases, leading to respiratory disorders and increased risk of cancer. It first appears in early childhood (the toddler stage) with symptoms such as lack of balance, slurred speech, and increased infections. Because all children at this age take time to develop good walking skills, coherent speech, and an effective immune system, it may be some years before A-T is properly diagnosed. AT is caused by a defect in the ATM gene, which is responsible for recognizing and correcting errors in duplicating DNA when cells divide, and in destroying the cells when the errors can't be corrected. The gene normally repairs double-stranded DNA breaks. So far there appear to be three forms of A-T: These are sometimes classified into types from I to IV. There are several other disorders with similar symptoms that physicians may consider when diagnosing A-T. These include: Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition that could be considered in the differential diagnosis of A-T. ATLD patients are very similar to A-T patients in showing a progressive cerebellar ataxia, hypersensitivity to ionising radiation and genomic instability . However,...More: http://booksllc.net/?id=1058672 ... Read more