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https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#1
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#2
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528511/met-overexpression-and-gene-amplification-prevalence-clinico-pathological-characteristics-and-prognostic-significance-in-a-large-cohort-of-patients-with-surgically-resected-nsclc
#3
William Sterlacci, Michael Fiegl, Mathias Gugger, Lukas Bubendorf, Spasenija Savic, Alexandar Tzankov
The prevalence of overexpression and amplification of the proto-oncogene mesenchymal epithelial transition (MET) in non-small cell lung cancer (NSCLC) varies greatly in the literature. Since MET is a potential treatment target, knowledge of its prevalence and prognostic importance is crucial. We investigated MET expression and gene status in 735 NSCLC cases using tissue microarrays. Prognostic significance as well as correlations with various clinico-pathological parameters were evaluated. The prevalence of MET overexpression was 17% and MET amplification was present in 2...
May 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28528510/immunogenomics-using-genomics-to-personalize-cancer-immunotherapy
#4
Rance C Siniard, Shuko Harada
While the use of genomic data has the potential to revolutionize patient care, there is still much work to be done with regard to the transformation of host-tumor interactions into favorable clinical outcomes for our patients. High-throughput technologies, such as next-generation sequencing (NGS), have rapidly advanced our understanding of oncology, and we are learning that most tumors do not simply possess consistently mutated genes that are responsible for tumorigenesis, facilitating the need for personalized cancer therapy...
May 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28528497/microrna-30a-5p-mir-30a-regulates-cell-motility-and-emt-by-directly-targeting-oncogenic-tm4sf1-in-colorectal-cancer
#5
Y R Park, S L Kim, M R Lee, S Y Seo, J H Lee, S H Kim, I H Kim, S O Lee, S T Lee, Sang Wook Kim
PURPOSE: Colorectal cancer (CRC) is one of the leading causes of cancer death worldwide, and many oncogenes and tumor suppressor genes are involved in CRC. MicroRNAs (miRNAs) are small non-coding RNAs that can negatively regulate gene expression. Previous studies have revealed that miRNAs regulate the development and progression of many cancers. In this study, we investigated the role of microRNA-30a-5p (miR-30a) in CRC and its unknown mechanisms. METHODS: qRT-PCR was used to detect miR-30a and TM4SF1 mRNA expression in CRC specimens and cell lines...
May 20, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28528475/effects-of-selenium-supplementation-on-gene-expression-levels-of-inflammatory-cytokines-and-vascular-endothelial-growth-factor-in-patients-with-gestational-diabetes
#6
Mehri Jamilian, Mansooreh Samimi, Faraneh Afshar Ebrahimi, Esmat Aghadavod, Robabeh Mohammadbeigi, Maryam Rahimi, Zatollah Asemi
Selenium is known to exert multiple beneficial effects including anti-inflammatory actions. The aim of the study was to evaluate the effects of selenium supplementation on gene expression levels of inflammatory cytokines and vascular endothelial growth factor (VEGF) in women with gestational diabetes (GDM). This randomized double-blind, placebo-controlled trial was carried out among 40 subjects diagnosed with GDM aged 18-40 years old. Subjects were randomly allocated into two groups to receive either 200 μg/day selenium supplements (n = 20) or placebo (n = 20) for 6 weeks...
May 21, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28528473/properties-of-streptomyces-albus-j1074-mutant-deficient-in-trna-leu-uaa-gene-blda
#7
Oksana Koshla, Maria Lopatniuk, Ihor Rokytskyy, Oleksandr Yushchuk, Yuriy Dacyuk, Victor Fedorenko, Andriy Luzhetskyy, Bohdan Ostash
Streptomyces albus J1074 is one of the most popular and convenient hosts for heterologous expression of gene clusters directing the biosynthesis of various natural metabolic products, such as antibiotics. This fuels interest in elucidation of genetic mechanisms that may limit secondary metabolism in J1074. Here, we report the generation and initial study of J1074 mutant, deficient in gene bldA for tRNA(Leu)UAA, the only tRNA capable of decoding rare leucyl TTA codon in Streptomyces. The bldA deletion in J1074 resulted in a highly conditional Bld phenotype, with depleted formation of aerial hyphae on certain solid media...
May 20, 2017: Archives of Microbiology
https://www.readbyqxmd.com/read/28528452/tumor-suppressor-protein-p53-exerts-negative-transcriptional-regulation-on-human-sodium-iodide-symporter-gene-expression-in-breast-cancer
#8
Madhura G Kelkar, Bhushan Thakur, Abhishek Derle, Sushmita Chatterjee, Pritha Ray, Abhijit De
PURPOSE: Aberrant expression of human sodium iodide symporter (NIS) in breast cancer (BC) is well documented but the transcription factors (TF) regulating its aberrant expression is poorly known. We identify the presence of three p53 binding sites on the human NIS promoter sequence by conducting genome-wide TF analysis, and further investigate their regulatory role. METHODS: The differences in transcription and translation were measured by real-time PCR, luciferase reporter assay, site-directed mutagenesis, in vivo optical imaging, and chromatin immunoprecipitation...
May 20, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28528450/high-expression-of-cyclin-d1-is-associated-to-high-proliferation-rate-and-increased-risk-of-mortality-in-women-with-er-positive-but-not-in-er-negative-breast-cancers
#9
Cecilia Ahlin, Claudia Lundgren, Elin Embretsén-Varro, Karin Jirström, Carl Blomqvist, M -L Fjällskog
PURPOSE: Cyclin D1 has a central role in cell cycle control and is an important component of estrogen regulation of cell cycle progression. We have previously shown that high cyclin D expression is related to aggressive features of ER-positive but not ER-negative breast cancer. The aims of the present study were to validate this differential ER-related effect and furthermore explore the relationship between cyclin D overexpression and CCND1 gene amplification status in a node-negative breast cancer case-control study...
May 20, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28528443/herpesvirus-nuclear-egress
#10
Richard J Roller, Joel D Baines
Herpesviruses assemble and package their genomes into capsids in the nucleus, but complete final assembly of the mature virion in the cell cytoplasm. This requires passage of the genome-containing capsid across the double-membrane nuclear envelope. Herpesviruses have evolved a mechanism that relies on a pair of conserved viral gene products to shuttle the capsids from the nucleus to the cytoplasm by way of envelopment and de-envelopment at the inner and outer nuclear membranes, respectively. This complex process requires orchestration of the activities of viral and cellular factors to alter the architecture of the nuclear membrane, select capsids at the appropriate stage for egress, and accomplish efficient membrane budding and fusion events...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28528442/herpesvirus-capsid-assembly-and-dna-packaging
#11
Jason D Heming, James F Conway, Fred L Homa
Herpes simplex virus type I (HSV-1) is the causative agent of several pathologies ranging in severity from the common cold sore to life-threatening encephalitic infection. During productive lytic infection, over 80 viral proteins are expressed in a highly regulated manner, resulting in the replication of viral genomes and assembly of progeny virions. The virion of all herpesviruses consists of an external membrane envelope, a proteinaceous layer called the tegument, and an icosahedral capsid containing the double-stranded linear DNA genome...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28528441/herpesvirus-latency-on-the-importance-of-positioning-oneself
#12
Patrick Lomonte
The nucleus is composed of multiple compartments and domains, which directly or indirectly influence many cellular processes including gene expression, RNA splicing and maturation, protein post-translational modifications, and chromosome segregation. Nuclear-replicating viruses, especially herpesviruses, have co-evolved with the cell, adopting strategies to counteract and eventually hijack this hostile environment for their own benefit. This allows them to persist in the host for the entire life of an individual and to ensure their maintenance in the target species...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28528436/the-unresolved-riddle-of-glucocorticoid-withdrawal
#13
REVIEW
F Guerrero Pérez, A P Marengo, C Villabona Artero
Glucocorticoid (GC) therapy is the most common cause of adrenal insufficiency (AI). The real prevalence of AI after GC is unknown but it could involve more than 30% of patients. Some gene variation has been associated with the variability of hypothalamic-pituitary-adrenal (HPA) axis and this issue could contribute to the individual variation of adrenal function after GC treatment. Symptoms and signs of AI are nonspecific and frequently the diagnosis is delayed. Dosage, duration of treatment, administration route and serum cortisol value are not completely useful to predict AI...
May 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28528424/trps1-gene-alterations-in-human-subependymoma
#14
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, Donald A Ross, Karl Heinimann
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28528409/polychlorinated-biphenyl-related-alterations-of-the-expression-of-essential-genes-in-harbour-seals-phoca-vitulina-from-coastal-sites-in-canada-and-the-united-states
#15
Marie Noël, Neil Dangerfield, Steve Jeffries, Dyanna Lambourn, Monique Lance, Caren Helbing, Michel Lebeuf, Peter S Ross
As long-lived marine mammals found throughout the temperate coastal waters of the North Pacific and Atlantic Oceans, harbour seals (Phoca vitulina) have become an invaluable sentinel of food-web contamination. Their relatively high trophic position predisposes harbour seals to the accumulation of harmful levels of persistent organic pollutants (POPs). We obtained skin/blubber biopsy samples from live-captured young harbour seals from various sites in the northeastern Pacific (British Columbia, Canada, and Washington State, USA) as well as the northwestern Atlantic (Newfoundland and Quebec, Canada)...
May 20, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#16
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28528363/caffeic-acid-phenethyl-ester-is-protective-in-experimental-ulcerative-colitis-via-reduction-in-levels-of-pro-inflammatory-mediators-and-enhancement-of-epithelial-barrier-function
#17
Mohammed N Khan, Majella E Lane, Paul A McCarron, Murtaza M Tambuwala
BACKGROUND: Inhibition of the nuclear factor kappa beta (NF-κβ) pathway has been proposed as a therapeutic target due to its key role in the expression of pro-inflammatory genes, including pro-inflammatory cytokines, chemokines, and adhesion molecules. Caffeic acid phenethyl ester (CAPE) is a naturally occurring anti-inflammatory agent, found in propolis, and has been reported as a specific inhibitor of NF-κβ. However, the impact of CAPE on levels of myeloperoxidases (MPO) and pro-inflammatory cytokines during inflammation is not clear...
May 20, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#18
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
May 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28528327/three-quarters-adrenalectomy-for-infantile-onset-cushing-syndrome-due-to-bilateral-adrenal-hyperplasia-in-mccune-albright-syndrome
#19
Tomoyo Itonaga, Hironori Goto, Manabu Toujigamori, Yasuharu Ohno, Seigo Korematsu, Tatsuro Izumi, Satoshi Narumi, Tomonobu Hasegawa, Kenji Ihara
BACKGROUND: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS...
May 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28528309/maintenance-of-claudin-3-expression-and-the-barrier-functions-of-intercellular-junctions-in-parotid-acinar-cells-via-the-inhibition-of-src-signaling
#20
Megumi Yokoyama, Takanori Narita, Hajime Sakurai, Osamu Katsumata-Kato, Hiroshi Sugiya, Junko Fujita-Yoshigaki
OBJECTIVES: Salivary acinar and duct cells show different expression patterns of claudins, which may reflect their different functions. To study the role of claudins in saliva secretion, we examined alterations in the expression patterns of cell adhesion molecules in parotid glands of γ-irradiated rats and analyzed the influence of those changes on intercellular barrier function using primary cultures of parotid acinar cells. DESIGN: Rats were γ-irradiated with doses of 5, 15 or 20Gy, and expression levels of cell adhesion molecules were examined by immunoblotting analysis...
May 15, 2017: Archives of Oral Biology
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