Read by QxMD icon Read

Molecular genetic personality

Dafina Ilijazi, Mohammad Abufaraj, Melanie R Hassler, Iris E Ertl, David D'Andrea, Shahrokh F Shariat
Bladder cancer (BCa) is the fifth most frequently diagnosed cancer worldwide and is, in fact, the most expensive cancer on a per-patient to treat basis. There is a critical need to implement new tests into clinical practice to improve the quality of clinical care, decrease unnecessary invasive therapies and ultimately save costs. Currently, no molecular or genetic biomarker has been widely integrated into daily clinical practice. However, major milestones have been achieved in our understanding of the molecular alterations in BCa that will provide the basis for integrating molecular and genetic biomarkers into clinical decision making to guide management...
March 15, 2018: Expert Review of Molecular Diagnostics
Gregory A Babbitt, Jamie S Mortensen, Erin E Coppola, Lily E Adams, Justin K Liao
Traditional informatics in comparative genomics work only with static representations of biomolecules (i.e., sequence and structure), thereby ignoring the molecular dynamics (MD) of proteins that define function in the cell. A comparative approach applied to MD would connect this very short timescale process, defined in femtoseconds, to one of the longest in the universe: molecular evolution measured in millions of years. Here, we leverage advances in graphics-processing-unit-accelerated MD simulation software to develop a comparative method of MD analysis and visualization that can be applied to any two homologous Protein Data Bank structures...
March 13, 2018: Biophysical Journal
Akitsugu Konno, Miho Inoue-Murayama, Shinji Yabuta, Akiko Tonoike, Miho Nagasawa, Kazutaka Mogi, Takefumi Kikusui
Drug detection dogs can be trained to locate various prohibited drugs with targeted odors, and they play an important role in the interdiction of drug smuggling in human society. Recent studies provide the interesting hypothesis that the oxytocin system serves as a biological basis for co-evolution between dogs and humans. Here, we offer the new possibility that genetic variation of the canine oxytocin receptor (OXTR) gene may regulate the success of a dog's training to become a drug detection dog. A total of 340 Labrador Retriever dogs that were trained to be drug detection dogs in Japan were analyzed...
March 10, 2018: Journal of Heredity
Peng Wu, Jia-Li Liu, Shi-Mei Pei, Chang-Peng Wu, Kai Yang, Shu-Peng Wang, Song Wu
BACKGROUND: Renal cell carcinoma (RCC) account for over 80% of renal malignancies. The most common type of RCC can be classified into three subtypes including clear cell, papillary and chromophobe. ccRCC (the Clear Cell Renal Cell Carcinoma) is the most frequent form and shows variations in genetics and behavior. To improve accuracy and personalized care and increase the cure rate of cancer, molecular typing for individuals is necessary. METHODS: We adopted the genome, transcriptome and methylation HMK450 data of ccRCC in The Cancer Genome Atlas Network in this research...
March 13, 2018: BMC Cancer
Ashfaqul Hoque, Priyadharshini Sivakumaran, Simon T Bond, Naomi X Y Ling, Anne M Kong, John W Scott, Nadeeka Bandara, Damián Hernández, Guei-Sheung Liu, Raymond C B Wong, Michael T Ryan, Derek J Hausenloy, Bruce E Kemp, Jonathan S Oakhill, Brian G Drew, Alice Pébay, Shiang Y Lim
Human induced pluripotent stem cells (iPSCs) are a valuable tool for studying the cardiac developmental process in vitro, and cardiomyocytes derived from iPSCs are a putative cell source for personalized medicine. Changes in mitochondrial morphology have been shown to occur during cellular reprogramming and pluripotent stem cell differentiation. However, the relationships between mitochondrial dynamics and cardiac mesoderm commitment of iPSCs remain unclear. Here we demonstrate that changes in mitochondrial morphology from a small granular fragmented phenotype in pluripotent stem cells to a filamentous reticular elongated network in differentiated cardiomyocytes are required for cardiac mesodermal differentiation...
December 2018: Cell Death Discovery
Xiao He, Lukas Folkman, Karsten Borgwardt
Motivation: Large-scale screenings of cancer cell lines with detailed molecular profiles against libraries of pharmacological compounds are currently being performed in order to gain a better understanding of the genetic component of drug response and to enhance our ability to recommend therapies given a patient's molecular profile. These comprehensive screens differ from the clinical setting in which (1) medical records only contain the response of a patient to very few drugs, (2) drugs are recommended by doctors based on their expert judgment, and (3) selecting the most promising therapy is often more important than accurately predicting the sensitivity to all potential drugs...
March 8, 2018: Bioinformatics
Jose Luis Royo, Joan Valls, Rafael D Acemel, Carlos Gómez-Marin, Mariona Pascual-Pons, Arantxa Lupiañez, Jose Luis Gomez-Skarmeta, Joan Fibla
Previous reports have proposed that personality may have played a role on human Out-Of-Africa migration, pinpointing some genetic variants that were positively selected in the migrating populations. In this work, we discuss the role of a common copy-number variant within the SIRPB1 gene, recently associated with impulsive behavior, in the human Out-Of-Africa migration. With the analysis of the variant distribution across forty-two different populations, we found that the SIRPB1 haplotype containing duplicated allele significantly correlated with human migratory distance, being one of the few examples of positively selected loci found across the human world colonization...
2018: PloS One
Carine Prisco Arnoni, Tatiane A De Paula Vendrame, Janaína Guilhem Muniz, Diana Gazito, Rosangela Duarte De Medeiros Person, Afonso J Pereira Cortez, Flavia R M Latini, Lilian Castilho
BACKGROUND: Vel is a high frequency blood group antigen and its alloantibody is involved in haemolytic transfusion reactions. After elucidation of the molecular basis of the Vel-negative phenotype defined by a 17-base pair deletion in SMIM1, genotyping has been the technique of choice to identify the Vel-negative phenotype, and molecular investigations have contributed to explain Vel expression variability. The present study was aimed at screening for Vel negative blood donors and characterising the genetic changes found in Brazilian donors with altered Vel expression...
January 11, 2018: Blood Transfusion, Trasfusione del Sangue
Nora M Gerhards, Sven Rottenberg
Despite substantial advances in the treatment of various cancers, many patients still receive anti-cancer therapies that hardly eradicate tumor cells but inflict considerable side effects. To provide the best treatment regimen for an individual patient, a major goal in molecular oncology is to identify predictive markers for a personalized therapeutic strategy. Regarding novel targeted anti-cancer therapies, there are usually good markers available. Unfortunately, however, targeted therapies alone often result in rather short remissions and little cytotoxic effect on the cancer cells...
January 2018: Drug Resistance Updates: Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy
Nurulamin Abu Bakar, Dirk J Lefeber, Monique van Scherpenzeel
Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG...
March 1, 2018: Journal of Inherited Metabolic Disease
Marta Kotlarek, Anna Kubiak, Małgorzata Czetwertyńska, Michał Świerniak, Wojciech Gierlikowski, Monika Kolanowska, Elwira Bakuła-Zalewska, Sissy M Jhiang, Krystian Jażdżewski, Anna Wójcicka
Aberrant expression of the sodium-iodide symporter (NIS) and the resistance to post-operative radioactive iodide treatment is a crucial cause of higher mortality of some thyroid cancer patients. In this study, we analyzed the impact of miR-146a on the expression and function of NIS and on the overall survival of thyroid cancer patients. The study included 2441 patients (2163 women; 278 men); including 359 cases with follicular variant of papillary thyroid carcinoma (fvPTC). miR: NIS interactions were analyzed in cell lines using in vivo binding and inhibition assays and radioactive iodine uptake assays...
February 26, 2018: International Journal of Molecular Sciences
Maria D Lozano, José I Echeveste, Marta Abengozar, Luis D Mejías, Miguel A Idoate, Alfonso Calvo, Carlos E de Andrea
CONTEXT: - The rapid advances in targeted therapies in non-small cell lung cancer (NSCLC) make the optimization and implementation of cytology specimens for molecular testing a priority. Up to 70% of patients with NSCLC are diagnosed at advanced stages and tissue biopsies often cannot be taken. Although cytology samples provide high-quality material for molecular testing, molecular cytopathology is not yet well known or widely used. OBJECTIVE: - To report the many advances in molecular cytopathology and the suitability and utility of cytology samples in molecular and genetic testing of NSCLC...
March 2018: Archives of Pathology & Laboratory Medicine
Latrice G Landry, Heidi L Rehm
Importance: Individuals of all races/ethnicities have a fundamental right to access health care and benefit from advances in science and medicine, including genetic testing. Objective: To determine whether detection rates for cardiomyopathy genetic testing differed between white people, Asian people, and underrepresented minorities (individuals of black, Hispanic, Native American, Alaskan Native, or Pacific Islander descent). Design, Setting, and Participants: We conducted a cross-sectional analysis of the genetic panel test results of 5729 probands who had a suspected diagnosis or family history of cardiomyopathy and who had been referred for testing between October 2003 and December 2017...
February 28, 2018: JAMA Cardiology
Mengyan Wang, Biao Zhu
Pneumocystis jirovecii pneumonia is an opportunistic infection among immunocompromised people. Studies have found that the increased resistance to sulfa drugs of Pneumocystis jirovecii may be associated with the mutation of dihydropteroate synthase ( DHPS ) gene and dihydrofolate reductase ( DHFR ) genes, but the mechanism is still unclear. The mutation of DHPS and DHFR genes may be the result of sulfa drugs selection or spontaneous genetic polymorphism, and it can be acquired from person-to-person transmission...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
Nar S Chauhan, Rajesh Pandey, Anupam K Mondal, Shashank Gupta, Manoj K Verma, Sweta Jain, Vasim Ahmed, Rutuja Patil, Dhiraj Agarwal, Bhushan Girase, Ankita Shrivastava, Fauzul Mobeen, Vikas Sharma, Tulika P Srivastava, Sanjay K Juvekar, Bhavana Prasher, Mitali Mukerji, Debasis Dash
Heterogeneity amidst healthy individuals at genomic level is being widely acknowledged. This, in turn, is modulated by differential response to environmental cues and treatment regimens, necessitating the need for stratified/personalized therapy. We intend to understand the molecular determinants of Ayurvedic way (ancient Indian system of medicine) of endo-phenotyping individuals into distinct constitution types termed " Prakriti," which forms the basis of personalized treatment. In this study, we explored and analyzed the healthy human gut microbiome structure within three predominant Prakriti groups from a genetically homogenous cohort to discover differentially abundant taxa, using 16S rRNA gene based microbial community profiling...
2018: Frontiers in Microbiology
Francisco M Salzano
This article begins with a brief overview of the history of Brazil and that of Brazilian science, from the European discovery of the country in 1500 up to the early 21st century. The history of the fields of genetics and genomics, from the 1930s, is then first examined from the focal point of the lives and publications of the three persons who are generally considered to be the founders of genetics in Brazil (C. A. Krug, F. G. Brieger, and A. Dreyfus), and then by 12 other researchers up to 1999. The area of molecular genetics and genomics from 2000 to present is then described...
March 2018: Genetics
Maria Laura De Angelis, Alessandro Bruselles, Federica Francescangeli, Flavia Pucilli, Sara Vitale, Ann Zeuner, Marco Tartaglia, Marta Baiocchi
Biobanking of molecularly characterized colorectal cancer stem cells (CSCs) generated from individual patients and growing as spheroids in defined serum-free media offer a fast, feasible, and multi-level approach for the screening of targeted therapies and drug resistance molecular studies. By combining in vitro and in vivo analyses of cetuximab efficacy with genetic data on an ongoing collection of stem cell-enriched spheroids, we describe the identification and preliminary characterization of microsatellite stable (MSS) CSCs that, despite the presence of the KRAS (G12D) mutation, display epidermal growth factor (EGF)-dependent growth and are strongly inhibited by anti-EGF-receptor (EGFR) treatment...
February 24, 2018: Cell Biology and Toxicology
Giacomo Sgalla, Bruno Iovene, Mariarosaria Calvello, Margherita Ori, Francesco Varone, Luca Richeldi
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive disease characterized by the aberrant accumulation of fibrotic tissue in the lungs parenchyma, associated with significant morbidity and poor prognosis. This review will present the substantial advances achieved in the understanding of IPF pathogenesis and in the therapeutic options that can be offered to patients, and will address the issues regarding diagnosis and management that are still open. MAIN BODY: Over the last two decades much has been clarified about the pathogenic pathways underlying the development and progression of the lung scarring in IPF...
February 22, 2018: Respiratory Research
Annely M Richardson, Ann M Moyer, Linda Hasadsri, Roshini S Abraham
PURPOSE OF REVIEW: The purpose of this review is to provide an overview of diagnostic testing in primary immunodeficiency and immune dysregulatory disorders (PIDDs), particularly focusing on flow cytometry and genetic techniques, utilizing specific examples of PIDDs. RECENT FINDINGS: Flow cytometry remains a vital tool in the diagnosis and monitoring of immunological diseases. Its utility ranges from cellular analysis and specific protein quantitation to functional assays and signaling pathway analysis...
February 22, 2018: Current Allergy and Asthma Reports
M May, S D Brookman-May, T H Ecke, M Burger
Squamous cell carcinoma of the penis (SCCP) is a rare cancer type in Western industrialized nations; nevertheless, it shows an aggressive course of disease in advanced tumor stages with accordantly high recurrence and progression rates. While molecular biomarkers are not established in clinical routine for the management of SCCP patients yet, the accordant unmet need is enormous, as adequate biomarkers would be meaningful for prognostic determination, planning of modality and extent of primary therapy, indication for inguinal lymph node resection, adjuvant treatment, and as potential targets for specific systemic treatment...
February 22, 2018: Der Urologe. Ausg. A
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"