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https://www.readbyqxmd.com/read/28334784/testing-the-ret-and-sema3d-genetic-interaction-in-mouse-enteric-nervous-system-development
#1
Ashish Kapoor, Dallas R Auer, Dongwon Lee, Sumantra Chatterjee, Aravinda Chakravarti
For most multigenic disorders, clinical manifestation (penetrance) and presentation (expressivity) are likely to be an outcome of genetic interaction between multiple susceptibility genes. Here, using gene knockouts in mice we evaluated genetic interaction between loss of Ret and loss of Sema3d, two Hirschsprung disease susceptibility genes. We intercrossed Ret and Sema3d double null heterozygotes to generate mice with the nine possible genotypes and assessed survival by counting various genotypes, myenteric plexus presence by acetylcholinesterase staining and embryonic day 12...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332308/ceacam1-long-isoform-has-opposite-effects-on-the-growth-of-human-mastocytosis-and-medullary-thyroid-carcinoma-cells
#2
Chiyuki Ueshima, Tatsuki R Kataoka, Yusuke Takei, Masahiro Hirata, Akihiko Sugimoto, Mitsuyoshi Hirokawa, Yoshimichi Okayama, Richard S Blumberg, Hironori Haga
Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) is expressed in a number of tumor cell types. The immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing isoforms of this molecule which possess a long cytoplasmic tail (CEACAM1-L) generally play inhibitory roles in cell function by interacting with Src homology 2 domain-containing tyrosine phosphatase (SHP)-1 and/or SHP-2. Src family kinases (SFKs) are also known to bind to and phosphorylate CEACAM1-L isoforms. Here, we report that CEACAM1 was uniquely expressed at high levels in both human neoplastic mast cells (mastocytosis) and medullary thyroid carcinoma cell (MTC) lines, when compared with their expression in nonneoplastic mast cells or nonneoplastic C cells...
March 23, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28330273/purification-and-characterization-of-polygalacturonase-from-aspergillus-fumigatus-mtcc-2584-and-elucidating-its-application-in-retting-of-crotalaria-juncea-fiber
#3
Gautam Anand, Sangeeta Yadav, Dinesh Yadav
Polygalacturonases represents an important member of pectinases group of enzymes with diverse industrial applications and is widely distributed among fungi, bacteria, yeasts, plants and some plant parasitic nematodes. An endo-polygalacturonase from a new fungal source Aspergillus fumigatus MTCC 2584 was produced under solid-state fermentation conditions and was purified simply by acetone precipitation and gel-filtration chromatography technique. The approximate molecular weight of the purified PG was found to be 43...
December 2016: 3 Biotech
https://www.readbyqxmd.com/read/28328712/resistance-training-induced-elevations-in-muscular-strength-in-trained-men-are-maintained-after-2-weeks-of-detraining-and-not-differentially-affected-by-whey-protein-supplementation
#4
Paul S Hwang, Thomas L Andre, Sarah K McKinley-Barnard, Flor E Morales Marroquín, Joshua J Gann, Joon J Song, Darryn S Willoughby
Hwang, PS, Andre, TL, McKinley-Barnard, SK, Morales Marroquín, FE, Gann, JJ, Song, JJ, and Willoughby, DS. Resistance training-induced elevations in muscular strength in trained men are maintained after 2 weeks of detraining and not differentially affected by whey protein supplementation. J Strength Cond Res 31(4): 869-881, 2017-Resistance training (RT) with nutritional strategies incorporating whey protein intake postexercise can stimulate muscle protein synthesis and elicit hypertrophy. The early phases of training-induced anabolic responses can be attenuated with longer-term training...
April 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28326956/clinical-pathologic-and-genetic-features-of-wilms-tumors-with-wtx-gene-mutation
#5
Sanda Alexandrescu, Sara Akhavanfard, Marian H Harris, Sara O Vargas
Clinical and pathologic features of patients with WTX-mutated Wilms tumor (WT) have not been studied in detail. We characterize the clinical and pathologic findings in WT with WTX abnormalities and provide comparison with WT without WTX mutation. Clinical, gross, and microscopic features in 35 patients with WT were examined. Karyotype was examined in a subset of cases. All cases had been previously analyzed for WTX, WT1, and CTNNB1 aberrations via array comparative genomic hybridization; OncoMap 4 high throughput genotyping was performed on 18 cases...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28323957/risk-profile-of-the-ret-a883f-germline-mutation-an-international-collaborative-study
#6
Jes Sloth Mathiesen, Mouhammed Amir Habra, John Howard Duncan Bassett, Sirazum Mubin Choudhury, Sabapathy Prakash Balasubramanian, Trevor A Howlett, Bruce G Robinson, Anne-Paule Gimenez-Roqueplo, Frederic Castinetti, Peter Vestergaard, Karin Frank-Raue
Context: The A883F germline mutation of the REarranged during Transfection proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC) the A883F mutation has been reclassified from the highest to high risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification in the ATA risk levels...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28318386/towards-precision-oncology-in-ret-aberrant-cancers
#7
Vivek Subbiah, Jason Roszik
No abstract text is available yet for this article.
March 20, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28315738/pulmonary-sarcomatoid-carcinomas-commonly-harbor-either-potentially-targetable-genomic-alterations-or-high-tumor-mutational-burden-as-observed-by-comprehensive-genomic-profiling
#8
Alexa B Schrock, Shuyu D Li, Garrett M Frampton, James Suh, Eduardo Braun, Ranee Mehra, Steven Buck, Jose A Bufill, Nir Peled, Nagla Abdel Karim, Cynthia Hsieh, Manuel Doria, James Knost, Rong Chen, Sai-Hong Ignatius Ou, Jeffrey S Ross, Philip J Stephens, Paul Fishkin, Vincent A Miller, Siraj M Ali, Balazs Halmos, Jane J Liu
BACKGROUND: Pulmonary sarcomatoid carcinoma (PSC) is a high-grade non-small cell lung carcinoma (NSCLC) characterized by poor prognosis and resistance to chemotherapy. Development of targeted therapeutic strategies for PSC has been hampered due to limited and inconsistent molecular characterization. METHODS: Hybrid-capture based comprehensive genomic profiling (CGP) was performed on DNA from 15,867 FFPE NSCLCs including 125 PSCs (0.8%). Tumor mutational burden (TMB) was calculated from 1...
March 15, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28315378/epigenetic-regulation-of-ret-receptor-tyrosine-kinase-and-non-coding-rnas-in-mtc
#9
Lauren Jin Suk Joo, Jing Ting Zhao, Matti L Gild, Anthony R Glover, Stan B Sidhu
Medullary thyroid carcinoma (MTC) is an aggressive and rare cancer with limited treatment options for metastatic disease. Due to this, there is a need for a better understanding of MTC biology in the hope of improved treatments. One area of improved understanding of cancer biology is epigenetics. Epigenetics is defined as cellular processes which alter gene expression independent of changes in the primary DNA sequence. These processes include modifications such as DNA methylation, microRNA deregulation and post-translational histone modifications, all of which have been implicated in tumorigenesis of MTC...
March 14, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28314770/cribriform-morular-variant-of-papillary-thyroid-carcinoma-a-distinctive-type-of-thyroid-cancer
#10
REVIEW
Alfred King-Yin Lam, Nassim Saremi
The aim of this systematic review is to study the features of cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) by analysing the 129 documented cases in the English literature. The disease occurred almost exclusively in women. The median age of presentation for CMV-PTC was 24 years. Slightly over half of the patients with CMV-PTC had familial adenomatous polyposis (FAP). CMV-PTC presented before the colonic manifestations in approximately half of the patients with FAP. Patients with FAP often have multifocal tumours in the thyroid...
April 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28299633/reticulocyte-hemoglobin-equivalent-as-a-potential-marker-for-diagnosis-of-iron-deficiency
#11
Yasumichi Toki, Katsuya Ikuta, Yoshie Kawahara, Noriyasu Niizeki, Masayuki Kon, Motoki Enomoto, Yuko Tada, Mayumi Hatayama, Masayo Yamamoto, Satoshi Ito, Motohiro Shindo, Yoko Kikuchi, Mitsutaka Inoue, Kazuya Sato, Mikihiro Fujiya, Toshikatsu Okumura
Evaluation of parameters relating to serum ferritin and iron is critically important in the diagnosis of iron deficiency anemia (IDA). The recent development of automated systems for hematology analysis has made it possible to measure reticulocyte hemoglobin equivalent (RET-He), which is thought to reflect iron content in reticulocytes, in the same sample used for complete blood count tests. If RET-He is, indeed, capable of evaluating iron deficiency (ID), it would be useful for immediate diagnosis of IDA. In the present study, we examined the usefulness of RET-He for diagnosis of ID...
March 15, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28295300/ifn-%C3%AE-directly-inhibits-murine-b-cell-precursor-leukemia-initiating-cell-proliferation-early-in-life
#12
Mario Fidanza, Alix E Seif, Sumin Jo, Amina Kariminia, Nina Rolf, Laura M Sly, Stephan A Grupp, Gregor S D Reid
The early-life immune environment has been implicated as a modulator of acute lymphoblastic leukemia (ALL) development in children, with infection being associated with significant changes in ALL risk. Furthermore, polymorphisms in several cytokine genes, including IL-10 and IFN-γ, are associated with leukemia development. However, the mechanisms and timing of these influences remain unknown. Here, we use the Eμ-ret transgenic mouse model of B-cell precursor ALL to assess the influence of IFN-γ on the early-life burden of leukemia-initiating cells...
March 15, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28294980/microrna-146b-a-novel-biomarker-and-therapeutic-target-for-human-papillary-thyroid-cancer
#13
REVIEW
Chen-Kai Chou, Rue-Tusan Liu, Hong-Yo Kang
Papillary thyroid cancer (PTC) is the most common tumor subtype of thyroid cancer. However, not all PTCs are responsive to current surgical and radioiodine treatment. The well-established clinical prognostic factors include tumor size, lymph node/distal metastasis, and extrathyroidal invasion. The RET/PTC-RAS-BRAF linear molecular signaling cascade is known to mediate PTC pathogenesis. However, whether presence of BRAF mutation, the most common genetic alteration in PTC, can affect PTC behavior and prognosis is controversial...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28294124/corrigendum-differences-in-the-transcriptome-of-medullary-thyroid-cancer-regarding-the-status-and-type-of-ret-gene-mutations
#14
Malgorzata Oczko-Wojciechowska, Michal Swierniak, Jolanta Krajewska, Malgorzata Kowalska, Monika Kowal, Tomasz Stokowy, Bartosz Wojtas, Dagmara Rusinek, Agnieszka Pawlaczek, Agnieszka Czarniecka, Sylwia Szpak-Ulczok, Tomasz Gawlik, Ewa Chmielik, Tomasz Tyszkiewicz, Barbara Nikiel, Dariusz Lange, Michal Jarzab, Malgorzata Wiench, Barbara Jarzab
No abstract text is available yet for this article.
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28293988/molecular-profiling-of-papillary-thyroid-carcinoma-in-korea-with-high-prevalence-of-braf-v600e-mutation
#15
Seung Eun Lee, Tae Sook Hwang, Yoon-La Choi, Wook Youn Kim, So Duk Lim, Young Bum Yoo, Suk Kyeong Kim
BACKGROUND: BRAF V600E mutation in PTC is particularly prevalent in Korea and a considerable number of BRAF-wild PTCs harbor RAS mutations. In addition, subsets of other genetic alterations clearly exist, but their prevalence in the Korean population has not been well studied. Recent increased insight into noninvasive encapsulated follicular variant PTC (NIE-FVPTC) has prompted endocrine pathologists to reclassify this entity as "noninvasive follicular thyroid neoplasm with papillary-like nuclear features...
March 15, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28281264/resonance-energy-transfer-based-nucleic-acid-hybridization-assays-on-paper-based-platforms-using-emissive-nanoparticles-as-donors
#16
Samer Doughan, M Omair Noor, Yi Han, Ulrich J Krull
Quantum dots (QDs) and upconverting nanoparticles (UCNPs) are luminescent nanoparticles (NPs) commonly used in bioassays and biosensors as resonance energy transfer (RET) donors. The narrow and tunable emissions of both QDs and UCNPs make them versatile RET donors that can be paired with a wide range of acceptors. Ratiometric signal processing that compares donor and acceptor emission in RET-based transduction offers improved precision, as it accounts for fluctuations in the absolute photoluminescence (PL) intensities of the donor and acceptor that can result from experimental and instrumental variations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28280984/treatment-of-lung-adenocarcinoma-by-molecular-targeted-therapy-and-immunotherapy
#17
REVIEW
Motonobu Saito, Hiroyuki Suzuki, Koji Kono, Seiichi Takenoshita, Takashi Kohno
Lung adenocarcinoma (LADC) is a cancer treatable using targeted therapies against driver gene aberrations. EGFR mutations and ALK fusions are frequent gene aberrations in LADC, and personalized therapies against those aberrations have become a standard therapy. These targeted therapies have shown significant positive efficacy and tolerable toxicity compared to conventional chemotherapy, so it is necessary to identify additional druggable genetic aberrations. Other than EGFR mutations and ALK fusions, mutations in KRAS, HER2, and BRAF, and driver fusions involving RET and ROS1, have also been identified in LADC...
March 9, 2017: Surgery Today
https://www.readbyqxmd.com/read/28280974/post-absorptive-muscle-protein-turnover-affects-resistance-training-hypertrophy
#18
Paul T Reidy, Michael S Borack, Melissa M Markofski, Jared M Dickinson, Christopher S Fry, Rachel R Deer, Elena Volpi, Blake B Rasmussen
PURPOSE: Acute bouts of resistance exercise and subsequent training alters protein turnover in skeletal muscle. The mechanisms responsible for the changes in basal post-absorptive protein turnover and its impact on muscle hypertrophy following resistance exercise training are unknown. Our goal was to determine whether post-absorptive muscle protein turnover following 12 weeks of resistance exercise training (RET) plays a role in muscle hypertrophy. In addition, we were interested in determining potential molecular mechanisms responsible for altering post-training muscle protein turnover...
March 9, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28276947/assessment-of-depression-anxiety-quality-of-life-and-coping-in-long-standing-multiple-endocrine-neoplasia-type-2-patients
#19
Karine Candido Rodrigues, Rodrigo Almeida Toledo, Flavia Lima Coutinho, Adriana Bezerra Nunes, Rui M B Maciel, Ana Oliveira Hoff, Marcos C Tavares, Sergio P A Toledo, Delmar Muniz Lourenço
BACKGROUND: Scarce data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are available. OBJECTIVES: To assess anxiety, depression, quality of life and coping in long-standing MEN2 patients. PATIENTS AND METHODS: Forty-three adults (age ≥ 18 y) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10.6±8.2 years; 1-33). A cross-sectional study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30 and MINI-MAC scales...
March 9, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28276298/a-scoring-system-to-predict-the-severity-of-hirschsprung-disease-at-diagnosis-and-its-correlation-with-molecular-genetics
#20
Raquel Núñez-Ramos, Raquel M Fernández, Miguel González-Velasco, Jesús Ruiz-Contreras, Enrique Galán-Gómez, Ramón Núñez-Núñez, Salud Borrego
Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Methods We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and nonsevere disease according to the number of surgical procedures, hospitalization time, and episodes of enterocolitis...
January 2017: Pediatric and Developmental Pathology
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