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Molecular genetics

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https://www.readbyqxmd.com/read/29241213/antibiotics-induced-obesity-a-mitochondrial-perspective
#1
Melisa J Andrade, Chinchu Jayaprakash, Smitha Bhat, Nikolaos Evangelatos, Angela Brand, Kapaettu Satyamoorthy
Antibiotics are the first line of treatment against infections and have contributed immensely to reduce the morbidity and mortality rates. Recently, extensive use of antibiotics has led to alterations of the gut microbiome, predisposition to various diseases and most importantly, increase in the emergence of antibiotic-resistant bacteria, which poses a major threat to global public health. Another major issue faced worldwide due to unregulated use of antibiotics in children as well as in adults is the influence of metabolism and body weight homeostasis, leading to obesity...
December 15, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/29240929/the-genome-and-adult-somatic-transcriptome-of-the-mormyrid-electric-fish-paramormyrops-kingsleyae
#2
Jason R Gallant, Mauricio Losilla, Chad Tomlinson, Wesley C Warren
Several studies have begun to elucidate the genetic and developmental processes underlying major vertebrate traits. Few of these traits have evolved repeatedly in vertebrates, preventing the analysis of molecular mechanisms underlying these traits comparatively. Electric organs have evolved multiple times among vertebrates, presenting a unique opportunity to understand the degree of constraint and repeatability of the evolutionary processes underlying novel vertebrate traits. As there is now a completed genome sequence representing south american electric eels, we were motivated to obtain genomic sequence from a linage that independently evolved electric organs to facilitate future comparative analyses of the evolution and development of electric organs...
December 12, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29240826/pamr-a-new-marr-like-regulator-affecting-prophages-and-metabolic-genes-expression-in-bacillus-subtilis
#3
Alba De San Eustaquio-Campillo, Charlène Cornilleau, Cyprien Guérin, Rut Carballido-López, Arnaud Chastanet
B. subtilis adapts to changing environments by reprogramming its genetic expression through a variety of transcriptional regulators from the global transition state regulators that allow a complete resetting of the cell genetic expression, to stress specific regulators controlling only a limited number of key genes required for optimal adaptation. Among them, MarR-type transcriptional regulators are known to respond to a variety of stresses including antibiotics or oxidative stress, and to control catabolic or virulence gene expression...
2017: PloS One
https://www.readbyqxmd.com/read/29240767/mitf-a-controls-branching-morphogenesis-and-nephron-endowment
#4
Aurélie Phelep, Denise Laouari, Kapil Bharti, Martine Burtin, Salvina Tammaccaro, Serge Garbay, Clément Nguyen, Florence Vasseur, Thomas Blanc, Sophie Berissi, Francina Langa-Vives, Evelyne Fischer, Anne Druilhe, Heinz Arnheiter, Gerard Friedlander, Marco Pontoglio, Fabiola Terzi
Congenital nephron number varies widely in the human population and individuals with low nephron number are at risk of developing hypertension and chronic kidney disease. The development of the kidney occurs via an orchestrated morphogenetic process where metanephric mesenchyme and ureteric bud reciprocally interact to induce nephron formation. The genetic networks that modulate the extent of this process and set the final nephron number are mostly unknown. Here, we identified a specific isoform of MITF (MITF-A), a bHLH-Zip transcription factor, as a novel regulator of the final nephron number...
December 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29240706/multi-objective-optimization-algorithm-to-discover-condition-specific-modules-in-multiple-networks
#5
Xiaoke Ma, Penggang Sun, Jianbang Zhao
The advances in biological technologies make it possible to generate data for multiple conditions simultaneously. Discovering the condition-specific modules in multiple networks has great merit in understanding the underlying molecular mechanisms of cells. The available algorithms transform the multiple networks into a single objective optimization problem, which is criticized for its low accuracy. To address this issue, a multi-objective genetic algorithm for condition-specific modules in multiple networks (MOGA-CSM) is developed to discover the condition-specific modules...
December 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29240611/clinical-and-molecular-characterization-of-the-first-familial-report-of-1p32-microdeletion
#6
Schaida Schirwani, Kath Smith, Meena Balasubramanian
Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed...
December 13, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29240606/genetic-studies-of-human-neuropathic-pain-conditions-a-review
#7
Katerina Zorina-Lichtenwalter, Marc Parisien, Luda Diatchenko
Numerous studies have shown associations between genetic variants and neuropathic pain disorders. Rare monogenic disorders are caused by mutations of substantial effect size in a single gene, whereas common disorders are likely to have a contribution from multiple genetic variants of mild effect size, representing different biological pathways. In this review, we survey the reported genetic contributors to neuropathic pain and submit them for validation in a 150,000-participant sample of the U.K. Biobank cohort...
November 3, 2017: Pain
https://www.readbyqxmd.com/read/29240520/draft-whole-genome-sequence-analyses-on-pseudomonas-syringae-pv-actinidiae-hr-negative-strains-detected-from-kiwifruit-bleeding-sap-samples
#8
Enrico Biondi, Alan Zamorano, Ernesto Vega, Stefano Ardizzi, Davide Sitta, Roberto De Salvador, Reinaldo Campos-Vargas, Claudio Meneses, Set Pérez, Assunta Bertaccini, Nicola Fiore
Kiwifruit bleeding sap samples, collected in Italian and Chilean orchards from symptomatic and asymptomatic plants, were evaluated for the presence of Pseudomonas syringae pv. actinidiae, the causal agent of bacterial canker. The saps were sampled during the spring of both hemispheres, before the bud sprouting, during the optimal time window for the collection of an adequate volume of sample for the early detection of the pathogen, preliminarily by molecular assays, and then, through its direct isolation and identification...
December 14, 2017: Phytopathology
https://www.readbyqxmd.com/read/29240272/amino-acid-deprivation-and-central-carbon-metabolism-regulate-the-production-of-outer-membrane-vesicles-and-tubes-by-francisella
#9
Vinaya Sampath, William D McCaig, David G Thanassi
Francisella tularensis is a highly virulent Gram-negative bacterial pathogen that causes the zoonotic disease tularemia. F. novicida, a model tularemia strain, produces spherical outer membrane vesicles (OMV), as well as novel tubular vesicles and extensions of the cell surface. These OMV and tubes (OMV/T) are produced in a regulated manner and contain known virulence factors. Mechanisms by which bacterial vesicles are produced and regulated are not well understood. We performed a genetic screen in F. novicida to decipher the molecular basis for regulated OMV/T formation, and identified both hypo- and hyper-vesiculating mutants...
December 14, 2017: Molecular Microbiology
https://www.readbyqxmd.com/read/29240080/reinterpretation-of-sequence-variants-one-diagnostic-laboratory-s-experience-and-the-need-for-standard-guidelines
#10
Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Gabrielle Mettler, Jean McGowan-Jordan, Liz Sinclair-Bourque, Amanda Smith, Olga Jarinova
PurposeThe advent of next-generation sequencing resulted in substantial increases in the number of variants detected, interpreted, and reported by molecular genetics diagnostic laboratories. Recent publications have provided standards for the interpretation of sequence variants, but there are currently no standards regarding reinterpretation of these variants. Recognizing that significant changes in variant classification may occur over time, many genetics diagnostic laboratories have independently developed practices for variant reinterpretation...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29239743/phenotypic-and-molecular-spectrum-of-aicardi-gouti%C3%A3-res-syndrome-a-study-of-24-patients
#11
Fuad Al Mutairi, Majid Alfadhel, Marwan Nashabat, Ayman W El-Hattab, Tawfeg Ben-Omran, Jozef Hertecant, Wafaa Eyaid, Rehab Ali, Ali Alasmari, Majdi Kara, Waleed Al-Twaijri, Rana Filimban, Abduljabbar Alshenqiti, Mohammed Al-Owain, Eissa Faqeih, Fowzan S Alkuraya
BACKGROUND: Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable clinical manifestations. Molecular detection of specific mutations is required to confirm the diagnosis. The aim of this retrospective study was to review the clinical and molecular diagnostic findings in 24 cases of Aicardi-Goutières syndrome presenting in childhood in the Arab population. MATERIALS AND METHODS: We reviewed the records of 24 patients from six tertiary hospitals in different Arab countries...
October 5, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29239593/clinical-significance-of-gene-defects-in-b-cell-lymphomas
#12
Annika Pasanen, Leo Meriranta, Sirpa Leppä
Lymphomas are a heterogenous group of malignant diseases. Identification of sub-groups has created pressure for a more detailed diagnosis and individualized treatment. Although the underlying genetic and molecular pathologic factors of the most common B-cell derived lymphomas, i.e. diffuse large B-cell lymphoma and follicular lymphoma, have become more accurate, prognosis is evaluated and treatment options still selected mainly on the basis of clinical variables. In the future, new generation sequencing methods that are becoming more common in clinical practice will allow the assessment of prognosis and treatment on the basis of biologic and genetic risk factors...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29239193/-checkpoint-inhibitors-in-the-treatment-of-upper-gastrointestinal-tract-tumors
#13
R Obermannova
Chemotherapy prolongs overall survival (OS) in esophageal (EC) and gastric cancer (GC). Unsatisfactory results of systemic therapy initiated a search for new treatment options. In metastatic disease, a number of targeted drugs were tested; however, several phase III studies assessing receptor tyrosin kinase-related signaling pathways, such as EGFR, MET/HGF or mTOR, failed. Trastuzumab remains the only targeted drug with a known molecular predictor, which extended the OS in metastatic gastric adenocarcinoma and adenocarcinoma of esophago-gastric junction...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/29239044/pathology-and-genetics-of-phaeochromocytoma-and-paraganglioma
#14
REVIEW
John Turchini, Veronica K Y Cheung, Arthur S Tischler, Ronald R De Krijger, Anthony J Gill
Phaeochromocytoma and paraganglioma (PHEO/PGL) are rare tumours with an estimated annual incidence of 3 per million. Advances in molecular understanding have led to the recognition that at least 30-40% arise in the setting of hereditary disease. Germline mutations in the succinate dehydrogenase genes SDHA, SDHB, SDHC, SDHD and SDHAF2 are the most prevalent of the more than 19 hereditary genetic abnormalities which have been reported. It is therefore recommended that, depending on local resources and availability, at least some degree of genetic testing should be offered to all PHEO/PGL patients, including those with clinically sporadic disease...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239040/molecular-pathology-of-thyroid-tumours-of-follicular-cells-a-review-of-genetic-alterations-and-their-clinicopathological-relevance
#15
REVIEW
Giorgia Acquaviva, Michela Visani, Andrea Repaci, Kerry J Rhoden, Dario de Biase, Annalisa Pession, Tallini Giovanni
Thyroid cancer is the most common endocrine malignancy. Knowledge of the molecular pathology of thyroid tumours originating from follicular cells has greatly advanced in the past several years. Common molecular alterations, such as BRAF p.V600E, RAS point mutations, and fusion oncogenes (RET-PTC being the prototypical example), have been, respectively, associated with conventional papillary carcinoma, follicular-patterned tumours (follicular adenoma, follicular carcinoma, and the follicular variant of papillary carcinoma/non-invasive follicular thyroid neoplasm with papillary-like nuclear features), and with papillary carcinomas from young patients and arising after exposure to ionising radiation, respectively...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239036/a-user-s-guide-to-non-invasive-follicular-thyroid-neoplasm-with-papillary-like-nuclear-features-niftp
#16
REVIEW
Yin P Hung, Justine A Barletta
The term non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was recently introduced to replace a subset of follicular variant of papillary thyroid carcinoma (FVPTC). The goal of this change was to promote more conservative management of these tumours and spare patients the psychological burden of a cancer diagnosis. The histological diagnosis of NIFTP is stringent: the tumour needs to demonstrate encapsulation or circumscription, a purely follicular architecture and the presence of nuclear features of papillary thyroid carcinoma, while lacking capsular and vascular invasion, a significant component of solid growth and high-grade features (increased mitotic activity and necrosis)...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29238890/real-time-detection-of-braf-v600e-mutation-from-archival-hairy-cell-leukemia-ffpe-tissue-by-nanopore-sequencing
#17
Davide Vacca, Valeria Cancila, Alessandro Gulino, Giosuè Lo Bosco, Beatrice Belmonte, Arianna Di Napoli, Ada Maria Florena, Claudio Tripodo, Walter Arancio
The MinION is a miniaturized high-throughput next generation sequencing platform of novel conception. The use of nucleic acids derived from formalin-fixed paraffin-embedded samples is highly desirable, but their adoption for molecular assays is hurdled by the high degree of fragmentation and by the chemical-induced mutations stemming from the fixation protocols. In order to investigate the suitability of MinION sequencing on formalin-fixed paraffin-embedded samples, the presence and frequency of BRAF c.1799T > A mutation was investigated in two archival tissue specimens of Hairy cell leukemia and Hairy cell leukemia Variant...
December 13, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/29238848/biology-of-bone-sarcomas-and-new-therapeutic-developments
#18
REVIEW
Hannah K Brown, Kristina Schiavone, François Gouin, Marie-Françoise Heymann, Dominique Heymann
Bone sarcomas are tumours belonging to the family of mesenchymal tumours and constitute a highly heterogeneous tumour group. The three main bone sarcomas are osteosarcoma, Ewing sarcoma and chondrosarcoma each subdivided in diverse histological entities. They are clinically characterised by a relatively high morbidity and mortality, especially in children and adolescents. Although these tumours are histologically, molecularly and genetically heterogeneous, they share a common involvement of the local microenvironment in their pathogenesis...
December 13, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29238724/dna-damage-as-a-driver-for-growth-delay-chromosome-instability-syndromes-with-intrauterine-growth-retardation
#19
REVIEW
Benilde García-de Teresa, Mariana Hernández-Gómez, Sara Frías
DNA is constantly exposed to endogenous and exogenous mutagenic stimuli that are capable of producing diverse lesions. In order to protect the integrity of the genetic material, a wide array of DNA repair systems that can target each specific lesion has evolved. Despite the availability of several repair pathways, a common general program known as the DNA damage response (DDR) is stimulated to promote lesion detection, signaling, and repair in order to maintain genetic integrity. The genes that participate in these pathways are subject to mutation; a loss in their function would result in impaired DNA repair and genomic instability...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29238707/drug-repurposing-for-the-treatment-of-acute-myeloid-leukemia
#20
REVIEW
Vibeke Andresen, Bjørn T Gjertsen
Acute myeloid leukemia (AML) is a heterogeneous disease characterized by the accumulation of immature myeloid progenitor cells in the bone marrow, compromising of normal blood cell production and ultimately resulting in bone marrow failure. With a 20% overall survival rate at 5 years and 50% in the 18- to 65-year-old age group, new medicines are needed. It is proposed that development of repurposed drugs may be a part of the new therapy needed. AML is subdivided into recurrent molecular entities based on molecular genetics increasingly accessible for precision medicine...
2017: Frontiers in Medicine
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