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Mutation Research. Reviews in Mutation Research

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https://www.readbyqxmd.com/read/28528692/insulin-like-growth-factor-igf-axis-in-cancerogenesis
#1
REVIEW
Aldona Kasprzak, Wojciech Kwasniewski, Agnieszka Adamek, Anna Gozdzicka-Jozefiak
Determination of the role of insulin-like growth factor (IGF) family components in carcinogenesis of several human tumors is based on numerous epidemiological and pre-clinical studies, experiments in vivo and in vitro and on attempts at application of drugs affecting the IGF axis. Investigative hypotheses in original studies were based on biological functions manifested by the entire family of IGF (ligands, receptors, linking proteins, adaptor molecules). In the context of carcinogenesis the most important functions of IGF family involve intensification of proliferation and inhibition of cell apoptosis and effect on cell transformation through synthesis of several regulatory proteins...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528691/the-igf-axis-in-hpv-associated-cancers
#2
REVIEW
Adam Pickard, Julia Durzynska, Dennis J McCance, Elisabeth R Barton
Human papillomaviruses (HPV) infect and replicate in stratified epithelium at cutaneous and mucosal surfaces. The proliferation and maintenance of keratinocytes, the cells which make up this epithelium, are controlled by a number of growth factor receptors such as the keratinocyte growth factor receptor (KGFR, also called fibroblast growth factor receptor 2b (FGFR2b)), the epithelial growth factor receptor (EGFR) and the insulin-like growth factor receptors 1 and 2 (IGF1R and IGF2R). In this review, we will delineate the mutation, gene transcription, translation and processing of the IGF axis within HPV associated cancers...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528690/clinical-relevance-and-implications-of-hpv-induced-neoplasia-in-different-anatomical-locations
#3
REVIEW
Elena Sophie Prigge, Magnus von Knebel Doeberitz, Miriam Reuschenbach
Human papillomaviruses (HPV) are widespread DNA viruses that can infect epithelial cells of the skin and mucosa. Most HPV infections remain clinically unapparent and clear spontaneously. In few cases, however, HPV infections persist and can cause benign and malignant neoplasms at different anatomic locations. Malignant HPV-induced neoplasms are caused by distinct types of HPV (oncogenic or high-risk (HR) HPV types) and present in the anogenital (anus, penis, uterine cervix, vagina and vulva) and head and neck (particularly oropharynx) region...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528689/human-papillomaviruses-in-epigenetic-regulations
#4
REVIEW
Julia Durzynska, Krzysztof Lesniewicz, Elzbieta Poreba
Human Papillomaviruses (HPVs) are double-stranded DNA viruses, that infect epithelial cells and are etiologically involved in the development of human cancer. Today, over 200 types of human papillomaviruses are known. They are divided into low-risk and high-risk HPVs depending on their potential to induce carcinogenesis, driven by two major viral oncoproteins, E6 and E7. By interacting with cellular partners, these proteins are involved in interdependent viral and cell cycles in stratified differentiating epithelium, and concomitantly induce epigenetic changes in infected cells and those undergoing malignant transformation...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528688/human-papillomavirus-molecular-biology
#5
REVIEW
Mallory E Harden, Karl Munger
Human papillomaviruses are small DNA viruses with a tropism for squamous epithelia. A unique aspect of human papillomavirus molecular biology involves dependence on the differentiation status of the host epithelial cell to complete the viral lifecycle. A small group of these viruses are the etiologic agents of several types of human cancers, including oral and anogenital tract carcinomas. This review focuses on the basic molecular biology of human papillomaviruses.
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528687/molecular-mechanisms-underlying-human-papillomavirus-e6-and-e7-oncoprotein-induced-cell-transformation
#6
REVIEW
Suruchi Mittal, Lawrence Banks
Human papillomaviruses (HPVs) are the causative agents of 5% of all human cancers, with cervical cancer being the most important. Two viral oncoproteins, E6 and E7, are essential for the development and maintenance of malignancy. Both proteins function by targeting critical pathways that are essential for maintaining cellular homeostasis. As a consequence of these activities, this produces an environment that is favourable for the normal viral life cycle, but when perturbed, can result in the initiation of changes to the host cell, which ultimately results in the development of a malignancy...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528686/hpv-entry-into-cells
#7
REVIEW
Pinar Aksoy, Elinor Y Gottschalk, Patricio I Meneses
Human papillomavirus (HPV) is a sexually transmitted virus responsible for the development of cervical cancer, anal cancer, head and throat cancers, as well as genital area warts. A major focus of current HPV research is on preventing the virus from entering a cell and transferring its genetic material to the nucleus, thus potentially preventing the development of cancer. Although the available HPV vaccines are extremely successful, approximately 15 additional cancer-causing HPVs have been identified that the vaccines do not protect against...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528685/igf-i-deficiency-longevity-and-cancer-protection-of-patients-with-laron-syndrome
#8
REVIEW
Zvi Laron, Rivka Kauli, Lena Lapkina, Haim Werner
Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America.
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/28528684/clinical-studies-in-humans-targeting-the-various-components-of-the-igf-system-show-lack-of-efficacy-in-the-treatment-of-cancer
#9
REVIEW
Anastassios Philippou, Panagiotis F Christopoulos, Dr Michael Koutsilieris
The insulin-like growth factors (IGFs) system regulates cell growth, differentiation and energy metabolism and plays crucial role in the regulation of key aspects of tumor biology, such as cancer cell growth, survival, transformation and invasion. The current focus for cancer therapeutic approaches have shifted from the conventional treatments towards the targeted therapies and the IGF system has gained a great interest as anti-cancer therapy. The proliferative, anti-apoptotic and transformation effects of IGFs are mainly triggered by the ligation of the type I IGF receptor (IGF-IR)...
April 2017: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543316/mutations-of-myelodysplastic-syndromes-mds-an-update
#10
REVIEW
Bani Bandana Ganguly, N N Kadam
The plethora of knowledge gained on myelodysplastic syndromes (MDS), a heterogeneous pre-malignant disorder of hematopoietic stem cells, through sequencing of several pathway genes has unveiled molecular pathogenesis and its progression to AML. Evolution of phenotypic classification and risk-stratification based on peripheral cytopenias and blast count has moved to five-tier risk-groups solely concerning chromosomal aberrations. Increased frequency of complex abnormalities, which is associated with genetic instability, defines the subgroup of worst prognosis in MDS...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543315/the-ubiquitin-family-meets-the-fanconi-anemia-proteins
#11
REVIEW
Xavier Renaudin, Leticia Koch Lerner, Carlos Frederico Martins Menck, Filippo Rosselli
Fanconi anaemia (FA) is a hereditary disorder characterized by bone marrow failure, developmental defects, predisposition to cancer and chromosomal abnormalities. FA is caused by biallelic mutations that inactivate genes encoding proteins involved in replication stress-associated DNA damage responses. The 20 FANC proteins identified to date constitute the FANC pathway. A key event in this pathway involves the monoubiquitination of the FANCD2-FANCI heterodimer by the collective action of at least 10 different proteins assembled in the FANC core complex...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543314/dna-repair-mechanisms-and-their-clinical-impact-in-glioblastoma
#12
REVIEW
Hélène Erasimus, Matthieu Gobin, Simone Niclou, Eric Van Dyck
Despite surgical resection and genotoxic treatment with ionizing radiation and the DNA alkylating agent temozolomide, glioblastoma remains one of the most lethal cancers, due in great part to the action of DNA repair mechanisms that drive resistance and tumor relapse. Understanding the molecular details of these mechanisms and identifying potential pharmacological targets have emerged as vital tasks to improve treatment. In this review, we introduce the various cellular systems and animal models that are used in studies of DNA repair in glioblastoma...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543313/functional-implications-of-the-spectrum-of-bcl2-mutations-in-lymphoma
#13
REVIEW
Khushboo Singh, James M Briggs
Mutations in the translocated BCL2 gene are often detected in diffuse large B-cell lymphomas (DLBCLs), indicating both their significance and pervasiveness. Large series genome sequencing of more than 200 DLBCLs has identified frequent BCL2 mutations clustered in the exons coding for the BH4 domain and the folded loop domain (FLD) of the protein. However, BCL2 mutations are mostly contemplated to represent bystander events with negligible functional impact on the pathogenesis of DLBCL. BCL2 arbitrates apoptosis through a classic interaction between its hydrophobic groove forming BH1-3 domains and the BH3 domain of pro-apoptotic members of the BCL2 family...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234565/y-chromosome-b2-b3-deletions-and-male-infertility-a-comprehensive-meta-analysis-trial-sequential-analysis-and-systematic-review
#14
REVIEW
Sandeep Kumar Bansal, Gopal Gupta, Singh Rajender
The correlation of Y-chromosome b2/b3 partial deletions with spermatogenic failure remains dubious. We undertook a systematic review of the literature followed by meta-analyses and trial sequential analyses in order to compare the frequency of b2/b3 deletions between oligo/azoospermic infertile and normozoospermicmen. Out of twenty-four studies reviewed for meta-analysis, twenty reported no correlation between this deletion and male infertility and two studies each reported a direct and inverse correlation...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234564/role-of-nucleotide-excision-repair-proteins-in-response-to-dna-damage-induced-by-topoisomerase-ii-inhibitors
#15
REVIEW
Jaqueline C Rocha, Franciele F Busatto, Temenouga N Guecheva, Jenifer Saffi
In cancer treatment, chemotherapy is one of the main strategies used. The knowledge of the cellular and molecular characteristics of tumors allows the use of more specific drugs, making the removal of tumors more efficient. Among the drugs of choice in these treatments, topoisomerase inhibitors are widely used against different types of tumors. Topoisomerases are enzymes responsible for maintaining the structure of DNA, altering its topological state temporarily during the processes of replication and transcription, in order to avoid supercoiling and entanglements at the double helix...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234563/mechanisms-of-mutagenesis-dna-replication-in-the-presence-of-dna-damage
#16
REVIEW
Binyan Liu, Qizhen Xue, Yong Tang, Jia Cao, F Peter Guengerich, Huidong Zhang
Environmental mutagens cause DNA damage that disturbs replication and produces mutations, leading to cancer and other diseases. We discuss mechanisms of mutagenesis resulting from DNA damage, from the level of DNA replication by a single polymerase to the complex DNA replisome of some typical model organisms (including bacteriophage T7, T4, Sulfolobus solfataricus, Escherichia coli, yeast and human). For a single DNA polymerase, DNA damage can affect replication in three major ways: reducing replication fidelity, causing frameshift mutations, and blocking replication...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234562/the-many-faces-of-histone-h3k79-methylation
#17
REVIEW
Zeenat Farooq, Shahid Banday, Tej K Pandita, Mohammad Altaf
Dot1/DOT1L (disruptor of telomeric silencing-1) is an evolutionarily conserved histone methyltransferase that methylates lysine 79 located within the globular domain of histone H3. Dot1 was initially identified by a genetic screen as a disruptor of telomeric silencing in Saccharomyces cerevisiae; further, it is the only known non-SET domain containing histone methyltransferase. Methylation of H3K79 is involved in the regulation of telomeric silencing, cellular development, cell-cycle checkpoint, DNA repair, and regulation of transcription...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234561/epigenetic-alterations-induced-by-genotoxic-occupational-and-environmental-human-chemical-carcinogens-a-systematic-literature-review
#18
REVIEW
Grace Chappell, Igor P Pogribny, Kathryn Z Guyton, Ivan Rusyn
Accumulating evidence suggests that epigenetic alterations play an important role in chemically-induced carcinogenesis. Although the epigenome and genome may be equally important in carcinogenicity, the genotoxicity of chemical agents and exposure-related transcriptomic responses have been more thoroughly studied and characterized. To better understand the evidence for epigenetic alterations of human carcinogens, and the potential association with genotoxic endpoints, we conducted a systematic review of published studies of genotoxic carcinogens that reported epigenetic endpoints...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234560/biomonitoring-of-genotoxic-effects-for-human-exposure-to-nanomaterials-the-challenge-ahead
#19
REVIEW
Laetitia Gonzalez, Micheline Kirsch-Volders
Exposures to nanomaterials (NMs), with their specific physico-chemical characteristics, are likely to increase over the next years, as their production for industrial, consumer and medical applications is steadily rising. Therefore, there is an urgent need for the implementation of human biomonitoring studies of genotoxic effects after NM exposures in order to monitor and assure safety for workers and the general population. In this review, most commonly used biomarkers of early genetic effects were analyzed for their adequacy after NM exposures...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234559/molecular-genetics-of-the-col2a1-related-disorders
#20
REVIEW
Hao Deng, Xiangjun Huang, Lamei Yuan
Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an autosomal dominant or recessive pattern, have been described to be associated with the COL2A1 mutations, and at least 405 mutations ranging from point mutations to complex rearrangements have been reported, though the underlying pathogenesis remains unclear...
April 2016: Mutation Research. Reviews in Mutation Research
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