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https://www.readbyqxmd.com/read/28110461/the-emerging-role-of-liquid-biopsies-circulating-tumor-cells-and-circulating-cell-free-tumor-dna-in-lung-cancer-diagnosis-and-identification-of-resistance-mutations
#1
REVIEW
Angela Esposito, Carmen Criscitiello, Dario Trapani, Giuseppe Curigliano
Therapeutic advances in the treatment of lung cancer are in part due to a more complete understanding of its genomic portrait. The serial monitoring of tumor genotypes, which are instable and prone to changes under selective pressure, is becoming increasingly needed. Although tumor biopsies remain the reference standard for the diagnosis and genotyping of lung cancer, they are invasive and not always feasible. The "liquid biopsies" have the potential to overcome many of these hurdles, allowing a rapid and accurate identification of de novo and resistant genetic alterations and a real-time monitoring of treatment responses...
January 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28110069/peptide-and-nucleic-acid-directed-self-assembly-of-cationic-nanovehicles-through-giant-unilamellar-vesicle-modification-targetable-nanocomplexes-for-in-vivo-nucleic-acid-delivery
#2
A D Tagalakis, R Maeshima, C Yu-Wai-Man, J Meng, F Syed, L-P Wu, A M Aldossary, D McCarthy, S M Moghimi, S L Hart
: One of the greatest challenges for the development of genetic therapies is the efficient targeted delivery of therapeutic nucleic acids. Towards this goal, we have introduced a new engineering initiative in self-assembly of biologically safe and stable nanovesicle complexes (∼90-140 nm) derived from giant unilamellar vesicle (GUV) precursors and comprising plasmid DNA or siRNA and targeting peptide ligands. The biological performance of the engineered nanovesicle complexes were studied both in vitro and in vivo and compared with cationic liposome-based lipopolyplexes...
January 18, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28108847/airway-mucus-inflammation-and-remodeling-emerging-links-in-the-pathogenesis-of-chronic-lung-diseases
#3
REVIEW
Zhe Zhou-Suckow, Julia Duerr, Matthias Hagner, Raman Agrawal, Marcus A Mall
Airway mucus obstruction is a hallmark of many chronic lung diseases including rare genetic disorders such as cystic fibrosis (CF) and primary ciliary dyskinesia, as well as common lung diseases such as asthma and chronic obstructive pulmonary disease (COPD), which have emerged as a leading cause of morbidity and mortality worldwide. However, the role of excess airway mucus in the in vivo pathogenesis of these diseases remains poorly understood. The generation of mice with airway-specific overexpression of epithelial Na(+) channels (ENaC), exhibiting airway surface dehydration (mucus hyperconcentration), impaired mucociliary clearance (MCC) and mucus plugging, led to a model of muco-obstructive lung disease that shares key features of CF and COPD...
January 20, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28108561/semaphorin-3e-deficiency-exacerbates-airway-inflammation-hyperresponsiveness-and-remodeling-in-a-mouse-model-of-allergic-asthma
#4
Hesam Movassagh, Lianyu Shan, Ashfaque Mohammed, Andrew J Halayko, Abdelilah S Gounni
Semaphorin 3E (Sema3E) plays a crucial role in axon guidance, vascular patterning, and immune regulation. Nevertheless, the role of Sema3E in asthma is still elusive. In this study, we show that genetic ablation of Sema3E in mice results in increased lung granulocytosis, airway hyperresponsiveness, mucus overproduction, collagen deposition, and Th2/Th17 inflammation. Transfer of Sema3e(-/-) bone marrow progenitor cells to irradiated wild-type (WT) recipients exacerbates airway hyperresponsiveness and inflammation, whereas transfer of WT bone marrow progenitor cells ameliorates asthma pathology in Sema3e(-/-) recipients...
January 20, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28108556/confirmation-of-five-novel-susceptibility-loci-for-systemic-lupus-erythematosus-sle-and-integrated-network-analysis-of-82-sle-susceptibility-loci
#5
Julio E Molineros, Wanling Yang, Xu-Jie Zhou, Celi Sun, Yukinori Okada, Huoru Zhang, Kek Heng Chua, Yu-Lung Lau, Yuta Kochi, Akari Suzuki, Kazuhiko Yamamoto, Jianyang Ma, So-Young Bang, Hye-Soon Lee, Kwangwoo Kim, Sang-Cheol Bae, Hong Zhang, Nan Shen, Loren L Looger, Swapan K Nath
We recently identified ten novel SLE susceptibility loci in Asians and uncovered several additional suggestive loci requiring further validation. This study aimed to replicate five of these suggestive loci in a Han Chinese cohort from Hong Kong, followed by meta-analysis (11,656 cases and 23,968 controls) on previously reported Asian and European populations, and perform bioinformatic analyses on all 82 reported SLE loci to identify shared regulatory signatures. We performed a battery of analyses for these five loci, as well as joint analyses on all 82 SLE loci...
January 20, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28108375/the-role-of-pattern-recognition-receptors-in-lung-sarcoidosis
#6
Esmaeil Mortaz, Ian M Adcock, Atefhe Abedini, Arda Kiani, Mehdi Kazempour-Dizaji, Masoud Movassaghi, Johan Garssen
Sarcoidosis is a granulomatous disorder of unknown etiology. Infection, genetic factors, autoimmunity and an aberrant innate immune system have been explored as potential causes of sarcoidosis. The etiology of sarcoidosis remains unknown, and it is thought that it might be caused by an infectious agent in a genetically predisposed, susceptible host. Inflammation results from recognition of evolutionarily conserved structures of pathogens (Pathogen-associated molecular patterns, PAMPs) and/or from reaction to tissue damage associated patterns (DAMPs) through recognition by a limited number of germ line-encoded pattern recognition receptors (PRRs)...
January 17, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28108151/a-functional-genetic-screen-identifies-the-phosphoinositide-3-kinase-pathway-as-a-determinant-of-resistance-to-fibroblast-growth-factor-receptor-inhibitors-in-fgfr-mutant-urothelial-cell-carcinoma
#7
Liqin Wang, Tonći Šuštić, Rodrigo Leite de Oliveira, Cor Lieftink, Pasi Halonen, Marieke van de Ven, Roderick L Beijersbergen, Michel M van den Heuvel, René Bernards, Michiel S van der Heijden
Activating mutations and translocations of the FGFR3 gene are commonly seen in urothelial cell carcinoma (UCC) of the bladder and urinary tract. Several fibroblast growth factor receptor (FGFR) inhibitors are currently in clinical development and response rates appear promising for advanced UCC. A common problem with targeted therapeutics is intrinsic or acquired resistance of the cancer cells. To find potential drug targets that can act synergistically with FGFR inhibition, we performed a synthetic lethality screen for the FGFR inhibitor AZD4547 using a short hairpin RNA library targeting the human kinome in the UCC cell line RT112 (FGFR3-TACC3 translocation)...
January 17, 2017: European Urology
https://www.readbyqxmd.com/read/28107169/genetic-diagnosis-of-%C3%AE-1-antitrypsin-deficiency-using-dna-from-buccal-swab-and-serum-samples
#8
Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías
BACKGROUND: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD. METHODS: Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method...
January 20, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28106732/familial-lung-cancer-a-brief-history-from-the-earliest-work-to-the-most-recent-studies
#9
REVIEW
Anthony M Musolf, Claire L Simpson, Mariza de Andrade, Diptasri Mandal, Colette Gaba, Ping Yang, Yafang Li, Ming You, Elena Y Kupert, Marshall W Anderson, Ann G Schwartz, Susan M Pinney, Christopher I Amos, Joan E Bailey-Wilson
Lung cancer is the deadliest cancer in the United States, killing roughly one of four cancer patients in 2016. While it is well-established that lung cancer is caused primarily by environmental effects (particularly tobacco smoking), there is evidence for genetic susceptibility. Lung cancer has been shown to aggregate in families, and segregation analyses have hypothesized a major susceptibility locus for the disease. Genetic association studies have provided strong evidence for common risk variants of small-to-moderate effect...
January 17, 2017: Genes
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#10
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28105182/long-lasting-stable-disease-with-mtor-inhibitor-treatment-in-a-patient-with-a-perivascular-epithelioid-cell-tumor-a-case-report-and-literature-review
#11
Ezequiel Flechter, Yaniv Zohar, Ludmila Guralnik, Maria Passhak, Gil Bar Sela
Perivascular epithelioid cell tumor (PEComa) of the small intestine is extremely rare, and there is no established treatment at the present time. In 10% of patients with PEComas, genetic alterations of tuberous sclerosis complex have been reported. These genetic alterations activate mechanistic target of rapamycin (mTOR) in AMP-activated protein kinase and Ras/mitogen-activated protein kinase pathways, resulting in high mTOR activity. Since 2007, several cases of treatment with mTOR inhibitors in advanced PEComa have been reported...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28104449/acute-neurologic-disease-in-porcine-rubulavirus-experimentally-infected-piglets
#12
Jenifer Herrera, Luis Gómez-Núñez, Rocío Lara-Romero, Fernando Diosdado, Atalo Martínez-Lara, Miguel Jasso, Humberto Ramírez-Mendoza, Armando Pérez-Torres, José Francisco Rivera-Benítez
The objective of this study was to evaluate the clinical disease, humoral response and viral distribution of recent Porcine rubulavirus (PorPV) isolates in experimentally infected pigs. Four, 6-piglet (5-days old) groups were employed (G1-84, G2-93, G3-147, and G4-T). Three viral strains were used for the experimental infection: the reference strain LPMV-1984 (Michoacán 1984) and two other strains isolated in 2013, one in Queretaro (Qro/93/2013) and the other in Michoacán (Mich/147/2013). Each strain was genetically characterized by amplification and sequencing of the gene encoding hemagglutinin-neuroamidase (HN)...
January 16, 2017: Virus Research
https://www.readbyqxmd.com/read/28103823/stepwise-addition-of-genetic-changes-correlated-with-histological-change-from-well-differentiated-to-sarcomatoid-phenotypes-a-case-report
#13
Taichiro Goto, Yosuke Hirotsu, Hitoshi Mochizuki, Takahiro Nakagomi, Toshio Oyama, Kenji Amemiya, Masao Omata
BACKGROUND: Sarcomatoid cancer is defined by the World Health Organization as a category of non-small cell lung cancers with sarcoma or sarcoma-like differentiation. They are characterized by poor prognosis and resistance to conventional chemotherapy. However, the mutational profile of sarcomatoid cancer remains yet to be elucidated. Sarcomatoid cancers are usually biphasic tumors composed of carcinomatous and sarcomatous components, but the evolutional development of sarcomatoid cancer is controversial...
January 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28103814/the-respiratory-microbiome-in-bronchial-mucosa-and-secretions-from-severe-ige-mediated-asthma-patients
#14
Laura Millares, Guadalupe Bermudo, Vicente Pérez-Brocal, Christian Domingo, Marian Garcia-Nuñez, Xavier Pomares, Andrés Moya, Eduard Monsó
BACKGROUND: The bronchial microbiome in chronic lung diseases presents an abnormal pattern, but its microbial composition and regional differences in severe asthma have not been sufficiently addressed. The aim of the study was to describe the bacterial community in bronchial mucosa and secretions of patients with severe chronic asthma chronically treated with corticosteroids in addition to usual care according to Global Initiative for Asthma. Bacterial community composition was obtained by 16S rRNA gene amplification and sequencing, and functional capabilities through PICRUSt...
January 19, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28103738/pharmacological-management-of-relapsed-refractory-nsclc-with-chemical-drugs
#15
Niki Karachaliou, Aaron E Sosa, Feliciano Barron Barron, Maria Gonzalez Cao, Mariacarmela Santarpia, Rafael Rosell
Lung cancer is the leading cause of cancer death in both genders. In the early stages the disease is asymptomatic and most patients appear with metastasis at the time of the diagnosis. The discovery of key oncogenic events mainly in lung adenocarcinoma, like EGFR mutations or ALK rearrangements has changed the treatment landscape and has improved the prognosis of lung cancer patients. Inevitably, all patients initially treated with either chemotherapy or targeted therapies develop resistance and require a second-line therapeutic approach...
January 20, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#16
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28102223/global-and-local-selection-acting-on-the-pathogen-stenotrophomonas-maltophilia-in-the-human-lung
#17
Hattie Chung, Tami D Lieberman, Sara O Vargas, Kelly B Flett, Alexander J McAdam, Gregory P Priebe, Roy Kishony
Bacterial populations diversify during infection into distinct subpopulations that coexist within the human body. Yet, it is unknown to what extent subpopulations adapt to location-specific selective pressures as they migrate and evolve across space. Here we identify bacterial genes under local and global selection by testing for spatial co-occurrence of adaptive mutations. We sequence 552 genomes of the pathogen Stenotrophomonas maltophilia across 23 sites of the lungs from a patient with cystic fibrosis. We show that although genetically close isolates colocalize in space, distant lineages with distinct phenotypes separated by adaptive mutations spread throughout the lung, suggesting global selective pressures...
January 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28100499/gremlin1-plays-a-key-role-in-kidney-development-and-renal-fibrosis
#18
Rachel H Church, Imran Ali, Mitchel Tate, Deborah Lavin, Arjun Krishnakumar, Helena M Kok, Roel Goldschmeding, Finian Martin, Derek Brazil
Grem1, an antagonist of bone morphogenetic proteins, plays a key role in embryogenesis. A highly specific temporospatial gradient of Grem1 and BMP signalling is critical to normal lung, kidney and limb development. Grem1 levels are increased in renal fibrotic conditions including acute kidney injury, diabetic nephropathy, chronic allograft nephropathy and immune glomerulonephritis. A small number of grem1-/- whole body knockout mice on a mixed genetic background (8 %) are viable, with a single, enlarged left kidney and grossly normal histology...
January 18, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28099425/genetic-ablation-of-bach1-gene-enhances-recovery-from-hyperoxic-lung-injury-in-newborn-mice-via-transient-upregulation-of-inflammatory-genes
#19
Masato Ito, Nobuhiko Nagano, Yukio Arai, Ryo Ogawa, Shingo Kobayashi, Yukiko Motojima, Hayato Go, Masanori Tamura, Kazuhiko Igarashi, Phyllis A Dennery, Fumihiko Namba
BACKGROUND: BTB and CNC homology 1 (Bach1) is a transcriptional repressor of heme oxygenase (HO)-1. The effects of Bach1 disruption on hyperoxic lung injury in newborn mice have not been determined. We aimed to investigate the role of Bach1 in the newborns exposed to hyperoxia. METHODS: Bach1(-/-) and WT newborn mice were exposed to 21% or 95% oxygen for 4 days and were then allowed to recover in room air. Lung histology was assessed and lung Bach1, HO-1, IL-6, and monocyte chemoattractant protein (MCP)-1 mRNA levels were evaluated using RT-PCR...
January 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28099079/lymphangioleiomyomatosis-a-monogenic-model-of-malignancy
#20
Vera P Krymskaya, Francis X McCormack
Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure...
January 14, 2017: Annual Review of Medicine
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