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https://www.readbyqxmd.com/read/29785007/characterization-and-prevalence-of-two-novel-chek2-large-deletions-in-greek-breast-cancer-patients
#1
Paraskevi Apostolou, Florentia Fostira, Vasiliki Mollaki, Angeliki Delimitsou, Metaxia Vlassi, George Pentheroudakis, Eleni Faliakou, Panagoula Kollia, George Fountzilas, Drakoulis Yannoukakos, Irene Konstantopoulou
Germline CHEK2 mutations confer increased cancer risk, for breast and other types, which is variable depending on the specific mutation. Of these, Large Genomic Rearrangements (LGRs) have been rarely reported; to date only eight LGRs have been published with just the Czech founder mutation, the deletion of exons 9 and 10, being molecularly characterized and studied extensively. The present study aimed to molecularly define and determine the contribution of two rare, apparently novel CHEK2 LGRs, among Greek breast cancer patients...
May 22, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29752411/differential-activities-and-mechanisms-of-the-four-r-spondins-in-potentiating-wnt-%C3%AE-catenin-signaling
#2
Soohyun Park, Jie Cui, Wangsheng A Yu, Ling Wu, Kendra Carmon, Qingyun J Liu
The four R-spondins (RSPO1-4) strongly potentiate Wnt signaling and play critical roles in normal development, adult stem cell survival, and cancer development and aggressiveness. All four RSPOs have been suggested to potentiate Wnt signaling by binding to three related receptors, i.e., leucine-rich repeat containing, G protein-coupled receptors 4, 5 and 6 (LGR4/5/6), and then inducing the clearance of two E3 ubiquitin ligases (RNF43 and ZNRF3) that otherwise would ubiquitinate Wnt receptors for degradation...
May 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29748375/r-spondin3-is-associated-with-basal-progenitor-behavior-in-normal-and-tumor-mammary-cells
#3
Johanna Melisa Tocci, Carla María Felcher, Martín E García Solá, María Victoria Goddio, María Noel Zimberlin, Natalia Rubinstein, Anabella Srebrow, Omar Adrián Coso, Martín C Abba, Roberto P Meiss, Edith C Kordon
R-spondin3 (RSPO3) is a member of a family of secreted proteins that enhance Wnt signaling pathways in diverse processes including cancer. However, the role of RSPO3 in mammary gland and breast cancer development remains unclear. In this study, we show that RSPO3 is expressed in the basal stem cell-enriched compartment of normal mouse mammary glands but is absent from committed mature luminal cells in which exogenous RSPO3 impairs lactogenic differentiation. RSPO3 knockdown in basal-like mouse mammary tumor cells reduced canonical Wnt signaling, epithelial-to-mesenchymal transition-like features, migration capacity, and tumor formation in vivo...
May 10, 2018: Cancer Research
https://www.readbyqxmd.com/read/29726283/lactobacillus-plantarum-is-10506-activates-intestinal-stem-cells-in-a-rodent-model
#4
A F Athiyyah, A Darma, R Ranuh, W Riawan, A Endaryanto, F A Rantam, I S Surono, S M Sudarmo
This study investigated the probiotic effect of Lactobacillus plantarum IS-10506 in activating and regenerating leucine-rich repeat-containing G-protein-coupled receptor (Lgr)5- and B lymphoma Moloney murine leukaemia virus insertion region (Bmi)1-expressing intestinal stem cells in rodents following Escherichia coli serotype 055:B5 lipopolysaccharide (LPS) exposure. Male Sprague-Dawley rats (n=64) were randomised into control (KN), LPS (KL), probiotic + LPS (KL-Pr), and sequential probiotic + LPS + probiotic (KPR-7L) groups...
May 4, 2018: Beneficial Microbes
https://www.readbyqxmd.com/read/29625756/active-surveillance-for-localized-renal-masses-tumor-growth-delayed-intervention-rates-and-5-yr-clinical-outcomes
#5
Andrew G McIntosh, Benjamin T Ristau, Karen Ruth, Rachel Jennings, Eric Ross, Marc C Smaldone, David Y T Chen, Rosalia Viterbo, Richard E Greenberg, Alexander Kutikov, Robert G Uzzo
BACKGROUND: Active surveillance (AS) has gained acceptance as a management strategy for localized renal masses. OBJECTIVE: To review our large single-center experience with AS. DESIGN, SETTING, AND PARTICIPANTS: From 2000 to 2016, we identified 457 patients with 544 lesions managed with AS from our prospectively maintained kidney cancer database. A subset analysis was performed for patients with ≥5-yr follow-up without delayed intervention (DI)...
April 3, 2018: European Urology
https://www.readbyqxmd.com/read/29582426/prevalence-of-brca1-2-large-genomic-rearrangements-in-chinese-women-with-sporadic-triple-negative-or-familial-breast-cancer
#6
L Su, J Zhang, H Meng, T Ouyang, J Li, T Wang, Z Fan, T Fan, B Lin, Y Xie
The prevalence of BRCA1/2 large genomic rearrangements (LGRs) and their underlying mechanisms have not been fully evaluated in Chinese women with breast cancer. In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with familial breast cancer and 660 patients with sporadic triple-negative breast cancer who were negative for BRCA1/2 small-range mutations using the multiplex ligation-dependent probe amplification method. We found that twenty index patients (2.4%) in the familial breast cancer group carried a BRCA1 or BRCA2 LGR, and the frequencies of BRCA1 and BRCA2 LGRs were 1...
March 27, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29576754/250-mhz-passive-q-modulator-for-reflection-resonators
#7
Epel Boris, Subramanian V Sundramoorthy, Howard J Halpern
A simple scheme for dynamically switching the quality factor, Q, of a Loop-Gap Resonator (LGR); working at 250 MHz is presented. The addition of this Q-modulator resulted in 30% improvement in Electron Paramagnetic Resonance imager signal-to-noise ratio. During pulse excitation, this scheme lowered the Q, while higher Q was obtained during signal detection. These conditions favored the image acquisition. The Q-modulator is passive; the transition between different states was actuated by the radio frequency power itself...
April 2017: Concepts in Magnetic Resonance. Part B, Magnetic Resonance Engineering
https://www.readbyqxmd.com/read/29572179/continuous-application-of-compressive-force-induces-fusion-of-osteoclast-like-raw264-7-cells-via-upregulation-of-rank-and-downregulation-of-lgr4
#8
Rieko Matsuike, Hideki Tanaka, Kumiko Nakai, Mai Kanda, Maki Nagasaki, Fumiko Murakami, Chika Shibata, Kotoe Mayahara, Akira Nakajima, Natsuko Tanabe, Takayuki Kawato, Masao Maeno, Noriyoshi Shimizu
AIMS: During orthodontic treatment, facilitating osteoclastic bone resorption in the alveolar bone exposed to the compressive force (CF) is an important factor for tooth movement. The present study investigated the effect of CF stimulation on the differentiation of RAW264.7 cells from precursors to mature osteoclasts. MAIN METHODS: The cells were continuously stimulated with 0.3, 0.6, or 1.1 g/cm2 CF-which was generated by increasing the volume of culture medium in the wells of a 96-well plate-in the presence or absence of receptor activator of nuclear factor κB (RANK) ligand (RANKL) for 4 days...
March 20, 2018: Life Sciences
https://www.readbyqxmd.com/read/29483395/acute-fornix-deep-brain-stimulation-improves-hippocampal-glucose-metabolism-in-aged-mice
#9
Xiu Wang, Wen-Han Hu, Kai Zhang, Jun-Jian Zhou, De-Feng Liu, Mei-Yu Zhang, Jian-Guo Zhang
Background: A beneficial memory effect of acute fornix deep brain stimulation (DBS) has been reported in clinical studies. The aim of this study was to investigate the acute changes in glucose metabolism induced by fornix DBS. Methods: First, the Morris water maze test and novel object recognition memory test were used to confirm declined memory in aged mice (C57BL/6, 20-22 months old). Then, four groups of mice were used as follows: aged mice with stimulation (n = 12), aged mice with sham-stimulation (n = 8), adult mice (3-4 months old) with stimulation (n = 12), and adult mice with sham-stimulation (n = 8)...
March 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29416699/lgr5-and-lgr6-in-stem-cell-biology-and-ovarian-cancer
#10
REVIEW
Adam J Schindler, Arisa Watanabe, Stephen B Howell
Wnt signaling plays a fundamental role in patterning of the embryo and maintenance of stem cells in numerous epithelia. Epithelial stem cells are closeted in niches created by surrounding differentiated cells that express secreted Wnt and R-spondin proteins that influence proliferation rate and fate determination of stem cell daughters. R-spondins act through the LGR receptors to enhance Wnt signaling. This close association of stem cells with more differentiated regulatory cells expressing Wnt-pathway ligands is a feature replicated in all of the epithelial stem cell systems thus far examined...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29405118/r-spondins-can-potentiate-wnt-signaling-without-lgrs
#11
Andres M Lebensohn, Rajat Rohatgi
The WNT signaling pathway regulates patterning and morphogenesis during development and promotes tissue renewal and regeneration in adults. The R-spondin (RSPO) family of four secreted proteins, RSPO1-4, amplifies target cell sensitivity to WNT ligands by increasing WNT receptor levels. Leucine-rich repeat-containing G-protein coupled receptors (LGRs) 4-6 are considered obligate high-affinity receptors for RSPOs. We discovered that RSPO2 and RSPO3, but not RSPO1 or RSPO4, can potentiate WNT/β-catenin signaling in the absence of all three LGRs...
February 6, 2018: ELife
https://www.readbyqxmd.com/read/29389520/the-wnt-signaling-landscape-of-mammary-stem-cells-and-breast-tumors
#12
Caroline M Alexander
Attention has been focused on Wnt signaling in the mouse mammary gland for several decades, firstly by the discovery of several Wnt loci among the oncogenes revealed by MMTV-based insertional mutagenesis screening of mouse mammary gland, and then by the remarkable visualization of Wnt-dependent specification of mammary placodes in embryonic skin. This review aims to summarize the impact of recent data for our understanding of the roles of Wnt signaling in these roles. The amount and identity of both familiar and novel Wnt signaling components is examined for mouse mammary epithelial cells...
January 2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28853614/refeeding-after-caloric-restriction-reverses-altered-liver-glucose-release
#13
Rosângela F Garcia, Isabela R Mariano, Isabela C Stolarz, Maria Montserrat D Pedrosa
CONTEXT: Caloric restriction increases liver glucose release (LGR), but it is not known if this is a permanent condition. OBJECTIVE: To investigate if refeeding after caloric restriction reverses the high LGR. MATERIALS AND METHODS: Rats were organised in six-pups litters (GC); 12-pups litters with either 50% caloric restriction from 21 to 80 days of age (GR) or fed at will from 50 to 80 days of age (GRL). Liver perfusion was made at the age of 80 days...
August 30, 2017: Archives of Physiology and Biochemistry
https://www.readbyqxmd.com/read/28803092/uniform-field-loop-gap-resonator-and-rectangular-te-u02-for-aqueous-sample-epr-at-94ghz
#14
Jason W Sidabras, Tadeusz Sarna, Richard R Mett, James S Hyde
In this work we present the design and implementation of two uniform-field resonators: a seven-loop-six-gap loop-gap resonator (LGR) and a rectangular TEU02 cavity resonator. Each resonator has uniform-field-producing end-sections. These resonators have been designed for electron paramagnetic resonance (EPR) of aqueous samples at 94GHz. The LGR geometry employs low-loss Rexolite end-sections to improve the field homogeneity over a 3mm sample region-of-interest from near-cosine distribution to 90% uniform. The LGR was designed to accommodate large degassable Polytetrafluorethylen (PTFE) tubes (0...
September 2017: Journal of Magnetic Resonance
https://www.readbyqxmd.com/read/28727104/a-major-gene-for-host-response-to-porcine-reproductive-and-respiratory-syndrome-is-not-unfavorably-associated-with-overall-performance-under-nonchallenging-conditions-in-commercial-pig-lines
#15
J R Dunkelberger, P K Mathur, M S Lopes, E F Knol, J C M Dekkers
A QTL for host response to porcine reproductive and respiratory syndrome (PRRS) was identified in a previous study. The SNP WUR10000125 (WUR) is used as a tag SNP for this QTL. The favorable (B) allele at this SNP is in low frequency in commercial populations, possibly because this allele is unfavorably associated with an important trait under nonchallenging conditions and, therefore, may have been selected against. Therefore, objectives of this study were to estimate the effect of WUR on traits under selection in commercial lines under nonchallenging conditions and to estimate the effect of WUR genotype of parents on performance of crossbred progeny in a commercial-like environment...
July 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28656489/detection-of-brca1-gross-rearrangements-by-droplet-digital-pcr
#16
Elena V Preobrazhenskaya, Ilya V Bizin, Ekatherina Sh Kuligina, Alla Yu Shleykina, Evgeny N Suspitsin, Olga A Zaytseva, Elena I Anisimova, Sergey A Laptiev, Tatiana V Gorodnova, Alexey M Belyaev, Evgeny N Imyanitov, Anna P Sokolenko
PURPOSE: Large genomic rearrangements (LGRs) constitute a significant share of pathogenic BRCA1 mutations. Multiplex ligation-dependent probe amplification (MLPA) is a leading method for LGR detection; however, it is entirely based on the use of commercial kits, includes relatively time-consuming hybridization step, and is not convenient for large-scale screening of recurrent LGRs. MATERIALS AND METHODS: We developed and validated the droplet digital PCR (ddPCR) assay, which covers the entire coding region of BRCA1 gene and is capable to precisely quantitate the copy number for each exon...
October 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#17
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
October 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28488140/characterization-of-a-new-brca1-rearrangement-in-an-italian-woman-with-hereditary-breast-and-ovarian-cancer-syndrome
#18
Paola Concolino, Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Elisa De Paolis, Giovanni Scambia, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
BACKGROUND: We report a novel BRCA1 LGR, involving the complete duplication of exon 3, in an Italian patient with a strong family history of breast and ovarian cancer. Our purpose is to provide an effective characterization of this LGR using a combination of different methods able to establish the exact breakpoints of the duplication. METHODS: MAQ assay was used as primary screening method in LGRs detection. Array CGH, RT-PCR, and Long-PCR were used for a careful characterization of rearrangement and breakpoint regions...
July 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28465148/competitive-pcr-high-resolution-melting-analysis-c-pcr-hrma-for-large-genomic-rearrangements-lgrs-detection-a-new-approach-to-assess-quantitative-status-of-brca1-gene-in-a-reference-laboratory
#19
Angelo Minucci, Elisa De Paolis, Paola Concolino, Maria De Bonis, Roberta Rizza, Giulia Canu, Giovanni Luca Scaglione, Flavio Mignone, Giovanni Scambia, Cecilia Zuppi, Ettore Capoluongo
AIM OF THE STUDY: Evaluation of copy number variation (CNV) in BRCA1/2 genes, due to large genomic rearrangements (LGRs), is a mandatory analysis in hereditary breast and ovarian cancers families, if no pathogenic variants are found by sequencing. LGRs cannot be detected by conventional methods and several alternative methods have been developed. Since these approaches are expensive and time consuming, identification of alternative screening methods for LGRs detection is needed in order to reduce and optimize the diagnostic procedure...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28351343/identification-of-large-genomic-rearrangement-of-brca1-2-in-high-risk-patients-in-korea
#20
Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim, Yonggoo Kim
BACKGROUND: While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. METHODS: We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria...
March 28, 2017: BMC Medical Genetics
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