keyword
MENU ▼
Read by QxMD icon Read
search

Molecular subtype,

keyword
https://www.readbyqxmd.com/read/28323918/elucidating-the-role-of-the-desmosome-protein-p53-apoptosis-effector-related-to-pmp-22-perp-in-growth-hormone-tumors
#1
Katja Kiseljak-Vassiliades, Taylor S Mills, Yu Zhang, Mei Xu, Kevin O Lillehei, B K Kleinschmidt-DeMasters, Margaret E Wierman
Purpose: Densely granulated (DG) and sparsely granulated (SG) growth hormone (GH) pituitary adenomas differ in biological behavior which may be correlated with their known differences in cytoplasmic keratin distribution and E-cadherin expression. We desired to explore candidate genes which might further explain this behavior. Methods: Exon expression microarray was performed on 21 GH tumors (10 SG and 11 DG) and 20 normal control pituitaries from autopsy. Results: Bioinformatic analyses confirmed a differential molecular signature between normal pituitary and GH tumors as well as between the GH tumor subtypes...
February 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#2
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323835/molecular-epidemiology-of-cryptococcal-genotype-vnic-st5-in-siriraj-hospital-thailand
#3
Chanin Hatthakaroon, Sujiraphong Pharkjaksu, Piriyaporn Chongtrakool, Kamol Suwannakarn, Pattarachai Kiratisin, Popchai Ngamskulrungroj
Despite the strong association between Cryptococcus neoformans infection and the Human immunodeficiency virus (HIV) status of patients globally, most cryptococcosis cases in Far East Asia occur in non-HIV individuals. Molecular epidemiological studies, using multilocus sequence typing (MLST), have shown that more than 95% of cryptococcal strains belong to a specific subtype of VNI. However, this association has never been specifically examined in other parts of Asia. Therefore, in this study, we investigated the VNIc/ST5 genotype distribution among cryptococcosis patients in Thailand...
2017: PloS One
https://www.readbyqxmd.com/read/28317407/using-molecular-diagnostic-testing-to-personalize-the-treatment-of-patients-with-gastrointestinal-stromal-tumors
#4
Amber E Bannon, Lillian R Klug, Christopher L Corless, Michael C Heinrich
The diagnosis and treatment of gastrointestinal stromal tumor (GIST) has emerged as a paradigm for modern cancer treatment ("precision medicine"), as it highlights the importance of matching molecular defects with specific therapies. Over the past two decades, the molecular classification and diagnostic work up of GIST has been radically transformed, accompanied by the development of molecular therapies for specific subgroups of GIST. This review summarizes the developments in the field of molecular diagnosis of GIST, particularly as they relate to optimizing medical therapy...
March 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28317092/serpinc1-gene-mutations-in-antithrombin-deficiency
#5
René Mulder, F Nanne Croles, André B Mulder, James A Huntington, Karina Meijer, Michaël V Lukens
Existing evidence suggests that in most cases antithrombin deficiency can be explained by mutations in its gene, SERPINC1. We investigated the molecular background of antithrombin deficiency in a single centre family cohort study. We included a total of 21 families comprising 15 original probands and sixty-six relatives, 6 of who were surrogate probands for the genetic analysis. Antithrombin activity and antigen levels were measured. The heparin-antithrombin binding ratio assay was used to distinguish between the different subtypes of type II antithrombin deficiency...
March 20, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28315938/the-relationship-between-breast-cancer-molecular-subtypes-and-mast-cell-populations-in-tumor-microenvironment
#6
Anna Glajcar, Joanna Szpor, Agnieszka Pacek, Katarzyna Ewa Tyrak, Florence Chan, Joanna Streb, Diana Hodorowicz-Zaniewska, Krzysztof Okoń
Mast cells (MCs) are a part of the innate immune system. The MC functions toward cancer are partially based on the release of chymase and tryptase. However, the MC effect on breast cancer is controversial. The aim of our study was to investigate the presence of MCs in breast cancer tumors of different molecular subtypes and their relationships with other pathological prognostic factors. Tryptase- and chymase-positive mast cell densities were evaluated by immunohistochemistry in 108 primary invasive breast cancer tissue samples...
March 18, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28315308/target-specific-alterations-in-the-vip-inhibitory-drive-to-hippocampal-gabaergic-cells-after-status-epilepticus
#7
Linda Suzanne David, Lisa Topolnik
Status epilepticus (SE) is associated with complex reorganization of hippocampal circuits involving a significant loss of specific subtypes of GABAergic interneurons. While adaptive circuit plasticity may increase the chances for recruitment of surviving interneurons, the underlying mechanisms remain largely unknown. We studied the alterations in the inhibitory tone received by the hippocampal CA1 oriens/alveus (O/A) interneurons from the vasoactive intestinal peptide (VIP)- and calretinin (CR)-expressing interneurons using the pilocarpine-induced status epilepticus (SE) model of epilepsy...
March 14, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28315263/fluorinated-pet-tracers-for-molecular-imaging-of-%C3%AF-1-receptors-in-the-central-nervous-system
#8
Frauke Weber, Peter Brust, Erik Laurini, Sabrina Pricl, Bernhard Wünsch
At first the role of σ1 receptors in various neurological, psychiatric and neurodegenerative disorders is discussed. In the second part, the principle of positron emission tomography (PET ) is described and the known fluorinated PET tracers for labeling of σ1 receptors are presented. The third part focuses on fluoroalkyl substituted spirocyclic PET tracers, which represent the most promising class of fluorinated PET tracers reported so far. The homologous fluoroalkyl derivatives 12-15 show high σ1 affinity (K i = 0...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28315246/system-wide-profiling-of-protein-amino-termini-from-formalin-fixed-paraffin-embedded-tissue-specimens-for-the-identification-of-novel-substrates
#9
Zon W Lai, Oliver Schilling
Clinical tissues are used for histopathological diagnosis of many diseases including immunostaining and morphology subtyping as well as in molecular research such as for the analyses of DNA, RNA, and proteins. Formalin fixation and paraffin embedment (FFPE) of tissue specimens is routinely used for preserving clinical tissues for long-term storage, allowing histopathological diagnosis of many diseases. As such, FFPE tissues currently represent the most comprehensive collection of all clinical specimens, allowing great source of material for research opportunity, possibly due to the concern of protein integrity from antigen retrieval from fixation process...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28315066/failure-patterns-according-to-molecular-subtype-in-patients-with-invasive-breast-cancer-following-postoperative-adjuvant-radiotherapy-long-term-outcomes-in-contemporary-clinical-practice
#10
Yu Jin Lim, Sea-Won Lee, Noorie Choi, Jeanny Kwon, Keun-Yong Eom, Eunyoung Kang, Eun-Kyu Kim, Sung-Won Kim, Jee Hyun Kim, Yu Jung Kim, Se Hyun Kim, So Yeon Park, Jae-Sung Kim, In Ah Kim
PURPOSE: Although gene expression profiling provides critical information, knowledge remains limited regarding the differential effects of molecular subtype on clinical course. This study evaluated the impact of molecular status on long-term patterns of failure in patients with non-metastatic breast cancer. METHODS: We analyzed data from 1181 individuals with invasive breast cancer undergoing surgery plus PORT from 2003 to 2011. Molecular subtypes were defined as luminal A (LA), luminal B (LB)-HER2(-), LB-HER2(+), HER2, and triple-negative (TN) based on the 2013 St...
March 17, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28314945/precision-diabetes-learning-from-monogenic-diabetes
#11
REVIEW
Andrew T Hattersley, Kashyap A Patel
The precision medicine approach of tailoring treatment to the individual characteristics of each patient or subgroup has been a great success in monogenic diabetes subtypes, MODY and neonatal diabetes. This review examines what has led to the success of a precision medicine approach in monogenic diabetes (precision diabetes) and outlines possible implications for type 2 diabetes. For monogenic diabetes, the molecular genetics can define discrete aetiological subtypes that have profound implications on diabetes treatment and can predict future development of associated clinical features, allowing early preventative or supportive treatment...
March 17, 2017: Diabetologia
https://www.readbyqxmd.com/read/28314842/performance-of-mid-treatment-breast-ultrasound-and-axillary-ultrasound-in-predicting-response-to-neoadjuvant-chemotherapy-by-breast-cancer-subtype
#12
Rosalind P Candelaria, Roland L Bassett, William Fraser Symmans, Maheshwari Ramineni, Stacy L Moulder, Henry M Kuerer, Alastair M Thompson, Wei Tse Yang
BACKGROUND: The primary objective was to determine whether mid-treatment ultrasound measurements of index breast tumors and index axillary nodes of different cancer subtypes associate with residual cancer burden (RCB). METHODS: Patients with invasive breast cancer who underwent neoadjuvant chemotherapy and had pre-treatment and mid-treatment breast and axillary ultrasound were included in this single-institution, retrospective cohort study. Linear regression analysis assessed associations between RCB with (a) change in index breast tumor size, (b) change in index node size, and (c) absolute number of abnormal nodes at mid-treatment...
March 17, 2017: Oncologist
https://www.readbyqxmd.com/read/28314692/identification-of-an-atypical-etiological-head-and-neck-squamous-carcinoma-subtype-featuring-the-cpg-island-methylator-phenotype
#13
K Brennan, J L Koenig, A J Gentles, J B Sunwoo, O Gevaert
Head and neck squamous cell carcinoma (HNSCC) is broadly classified into HNSCC associated with human papilloma virus (HPV) infection, and HPV negative HNSCC, which is typically smoking-related. A subset of HPV negative HNSCCs occur in patients without smoking history, however, and these etiologically 'atypical' HNSCCs disproportionately occur in the oral cavity, and in female patients, suggesting a distinct etiology. To investigate the determinants of clinical and molecular heterogeneity, we performed unsupervised clustering to classify 528 HNSCC patients from The Cancer Genome Atlas (TCGA) into putative intrinsic subtypes based on their profiles of epigenetically (DNA methylation) deregulated genes...
March 1, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28314689/dna-methylation-based-classification-and-grading-system-for-meningioma-a-multicentre-retrospective-analysis
#14
Felix Sahm, Daniel Schrimpf, Damian Stichel, David T W Jones, Thomas Hielscher, Sebastian Schefzyk, Konstantin Okonechnikov, Christian Koelsche, David E Reuss, David Capper, Dominik Sturm, Hans-Georg Wirsching, Anna Sophie Berghoff, Peter Baumgarten, Annekathrin Kratz, Kristin Huang, Annika K Wefers, Volker Hovestadt, Martin Sill, Hayley P Ellis, Kathreena M Kurian, Ali Fuat Okuducu, Christine Jungk, Katharina Drueschler, Matthias Schick, Melanie Bewerunge-Hudler, Christian Mawrin, Marcel Seiz-Rosenhagen, Ralf Ketter, Matthias Simon, Manfred Westphal, Katrin Lamszus, Albert Becker, Arend Koch, Jens Schittenhelm, Elisabeth J Rushing, V Peter Collins, Stefanie Brehmer, Lukas Chavez, Michael Platten, Daniel Hänggi, Andreas Unterberg, Werner Paulus, Wolfgang Wick, Stefan M Pfister, Michel Mittelbronn, Matthias Preusser, Christel Herold-Mende, Michael Weller, Andreas von Deimling
BACKGROUND: The WHO classification of brain tumours describes 15 subtypes of meningioma. Nine of these subtypes are allotted to WHO grade I, and three each to grade II and grade III. Grading is based solely on histology, with an absence of molecular markers. Although the existing classification and grading approach is of prognostic value, it harbours shortcomings such as ill-defined parameters for subtypes and grading criteria prone to arbitrary judgment. In this study, we aimed for a comprehensive characterisation of the entire molecular genetic landscape of meningioma to identify biologically and clinically relevant subgroups...
March 14, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28306358/the-genetics-of-gastroesophageal-adenocarcinoma-and-the-use-of-circulating-cell-free-dna-for-disease-detection-and-monitoring
#15
Mark R Openshaw, Catherine J Richards, David S Guttery, Jacqueline A Shaw, Anne L Thomas
Gastroesophageal adenocarcinoma (GOA) is a frequently occurring cancer worldwide with a poor clinical outcome. Adenocarcinomas of the oesophagus and gastroesophageal junction have shown a recent increase in frequency, therefore there is need to increase our understanding of GOA in order to improve our ability to detect, monitor and treat the disease. Areas covered: The authors discuss the current classification of GOA in the context of recent changes in incidence. The authors also discuss developments in the understanding of disease biology and recent discoveries from whole genome and whole exome sequencing, and studies in immunotherapy...
March 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#16
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#17
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28303531/comprehensive-analysis-of-mile-gene-expression-data-set-advances-discovery-of-leukaemia-type-and-subtype-biomarkers
#18
Wojciech Labaj, Anna Papiez, Andrzej Polanski, Joanna Polanska
Large collections of data in studies on cancer such as leukaemia provoke the necessity of applying tailored analysis algorithms to ensure supreme information extraction. In this work, a custom-fit pipeline is demonstrated for thorough investigation of the voluminous MILE gene expression data set. Three analyses are accomplished, each for gaining a deeper understanding of the processes underlying leukaemia types and subtypes. First, the main disease groups are tested for differential expression against the healthy control as in a standard case-control study...
March 16, 2017: Interdisciplinary Sciences, Computational Life Sciences
https://www.readbyqxmd.com/read/28303495/genetic-landscape-and-classification-of-peripheral-t-cell-lymphomas
#19
REVIEW
Rosalind F Sandell, Rebecca L Boddicker, Andrew L Feldman
PURPOSE OF REVIEW: Peripheral T cell lymphomas (PTCLs) are markedly heterogeneous at the clinical, pathological, and molecular levels. This review will discuss genetic findings in PTCL with special emphasis on how they impact lymphoma classification. RECENT FINDINGS: Sequencing studies have identified recurrent genetic alterations in nearly every PTCL subtype. In anaplastic large cell lymphoma, these studies have revealed novel chromosomal rearrangements and mutations that have prognostic significance and may suggest new therapeutic approaches...
April 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28303061/polymorphisms-of-insulin-receptor-substrate-2-are-putative-biomarkers-for-pediatric-medulloblastoma-considering-the-genetic-susceptibility-and-pathological-diagnoses
#20
Wang Baocheng, Yang Zhao, Wei Meng, Yipeng Han, Jiajia Wang, Feili Liu, Shengying Qin, Jie Ma
Molecular profiling subgrouped medulloblastoma (MB) into four subtypes featured by distinct footprints. However, germline studies on genetic susceptibility in Chinese population have not been reported. To investigate the correlation of polymorphisms involved in the AKT signaling pathway with clinicopathological parameters in pediatric MB, and their contribution to the clinical outcome, we performed a case-controlled cohort consisting of 48 patients with pediatric MB and 190 healthy controls from Han population...
February 2017: Nagoya Journal of Medical Science
keyword
keyword
68282
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"