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https://www.readbyqxmd.com/read/29334679/the-il20-genetic-polymorphism-is-associated-with-altered-clinical-outcome-in-septic-shock
#1
Taka-Aki Nakada, Petch Wacharasint, James A Russell, John H Boyd, Emiri Nakada, Simone A Thair, Tadanaga Shimada, Keith R Walley
BACKGROUND: The IL10 family of genes includes crucial immune regulators. We tested the hypothesis that single nucleotide polymorphisms (SNPs) in IL10, IL19, IL20, and IL24 of the IL10 family gene cluster alter the clinical outcome of septic shock. METHODS: Patients with septic shock (n = 1,193) were genotyped for 13 tag SNPs of IL10, IL19, IL20, and IL24. IL20 gene expression was measured in genotyped lymphoblastoid cells in vitro. Cardiac surgical ICU patients (n = 981) were genotyped for IL20 rs2981573 A/G...
January 16, 2018: Journal of Innate Immunity
https://www.readbyqxmd.com/read/29334652/insight-into-the-expression-variation-of-metal-responsive-genes-in-the-seedling-of-date-palm-phoenix-dactylifera
#2
Zayneb Chaâbene, Agnieszka Rorat, Imen Rekik Hakim, Fabien Bernard, Grubb C Douglas, Amine Elleuch, Franck Vandenbulcke, Hafedh Mejdoub
Phytochelatin synthase and metallothionein gene expressions were monitored via qPCR in order to investigate the molecular mechanisms involved in Cd and Cr detoxification in date palm (Phoenix dactylifera). A specific reference gene validation procedure using BestKeeper, NormFinder and geNorm programs allowed selection of the three most stable reference genes in a context of Cd or Cr contamination among six reference gene candidates, namely elongation factor α1, actin, aldehyde dehydrogenase, SAND family, tubulin 6 and TaTa box binding protein...
December 28, 2017: Chemosphere
https://www.readbyqxmd.com/read/29334348/assessing-the-readiness-of-precision-medicine-interoperabilty-an-exploratory-study-of-the-national-institutes-of-health-genetic-testing-registry
#3
Jay G Ronquillo, Chunhua Weng, William T Lester
BACKGROUND:   Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. OBJECTIVE:   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats...
November 17, 2017: Journal of Innovation in Health Informatics
https://www.readbyqxmd.com/read/29334302/mirnas-as-potential-regulators-of-mtor-pathway-in-renal-cell-carcinoma
#4
Inês Nogueira, Francisca Dias, Ana Luísa Teixeira, Rui Medeiros
Renal cell carcinoma (RCC) is the most commonly occurring solid cancer of the adult kidney with the majority of RCC cases being detected accidentally. The most aggressive subtype is clear cell RCC (ccRCC). miRNAs, a family of small noncoding RNAs regulating gene expression have been identified as key biological modulators. The von Hippel-Lindau pathway is one of the signaling pathways involved in the pathophysiology of ccRCC. Another oncogenic mechanism involves the activation of PI3K/AKT/mTOR signaling and serves as a central regulator of cell metabolism, proliferation and survival...
January 15, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29333921/targeting-brd4-proteins-suppresses-the-growth-of-nsclc-through-downregulation-of-eif4e-expression
#5
Zhongyuan Gao, Ting Yuan, Xiao Zhou, Ping Ni, Geng Sun, Ping Li, Zhixiang Cheng, Xuerong Wang
Lung cancer is the leading cause of cancer-related death worldwide. Bromodomain and extraterminal domain (BET) proteins act as epigenome readers for gene transcriptional regulation. Among BET family members, BRD4 was well studied, but for its mechanism in non-small cell lung carcinoma has not been elucidated. eIF4E regulates gene translation and has been proved to play an important role in the progression of lung cancer. In this study, we first confirmed that BET inhibitors JQ1 and I-BET151 suppressed the growth of NSCLCs, in parallel with downregulated eIF4E expression...
January 15, 2018: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29333702/maml1-and-twist1-co-overexpression-promote-invasion-of-head-and-neck-squamous-cell-carcinoma
#6
Sima Ardalan Khales, Ehsan Ebrahimi, Eisa Jahanzad, Sahar Ardalan Khales, Mohammad Mahdi Forghanifard
AIMS: Head and neck squamous cell carcinoma (HNSCC) is the seventh most common cancer worldwide with considerable morbidity and mortality. Invasion and metastasis of HNSCC is a complex process involving multiple molecules and signaling pathways. Twist Family BHLH Transcription Factor 1 (TWIST1) and Mastermind-like 1 (MAML1) are essential in induction of epithelial-mesenchymal transition through direct regulation of implicated molecules in cellular adhesion, migration and invasion. Our aim in this study was to assess the clinical significance of MAML1 and TWIST1 expression in HNSCC, and elucidate the probable correlation between these genes to exhibit their possible associations with progression and metastasis of the disease...
January 15, 2018: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29333676/ether-%C3%A3-go-go-k-channels-effective-modulators-of-neuronal-excitability
#7
Christiane K Bauer, Jürgen R Schwarz
Mammalian EAG (ether-à-go-go) channels are voltage-gated K+ channels. They are encoded by the KCNH gene family and divided into three subfamilies, eag (Kv10), erg (eag-related gene; Kv11) and elk (eag-like; Kv12). All EAG channel subtypes are expressed in the brain where they effectively modulate neuronal excitability. This Topical Review describes the biophysical properties of each of the EAG channel subtypes, their function in neurons and the neurological diseases induced by EAG channel mutations. In contrast to the function of erg currents in the heart where they contribute to repolarization of the cardiac action potential, erg currents in neurons are involved in the maintenance of the resting potential, setting of action potential threshold and frequency accommodation...
January 15, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29333649/detection-of-gene-environment-interactions-in-a-family-based-population-using-scad
#8
Gwangsu Kim, Chao-Qiang Lai, Donna K Arnett, Laurence D Parnell, Jose M Ordovas, Yongdai Kim, Joungyoun Kim
No abstract text is available yet for this article.
February 10, 2018: Statistics in Medicine
https://www.readbyqxmd.com/read/29333623/evaluation-of-universal-immunohistochemical-screening-of-sebaceous-neoplasms-in-a-service-setting
#9
K Schon, E Rytina, J Drummond, J Simmonds, S Abbs, R Sandford, M Tischkowitz
BACKGROUND: Muir-Torre syndrome (MTS) is a subtype of Lynch syndrome, which encompasses the combination of sebaceous skin tumours or keratoacanthomas and internal malignancy, due to mutations in DNA mismatch repair genes. Sebaceous neoplasms (SNs) may occur before other malignancies, and may lead to the diagnosis, which allows testing of other family members, cancer surveillance, risk-reducing surgery or prevention therapies. AIM: To evaluate the efficacy of universal immunohistochemistry (IHC) screening of SNs in a service setting...
January 14, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29333095/cinnamomum-cassia-extracts-suppress-human-lung-cancer-cells-invasion-by-reducing-u-pa-mmp-expression-through-the-fak-to-erk-pathways
#10
Hsing-Chen Wu, Chi-Ting Horng, You-Li Lee, Pei-Ni Chen, Chin-Yin Lin, Chen-Yu Liao, Yih-Shou Hsieh, Shu-Chen Chu
Cinnamomum cassia exhibits antioxidative, apoptotic, and cytostatic properties. These activities have been attributed to the modulation of several biological processes and are beneficial for possible pharmaceutical applications. However, the potential of C. cassia in retarding lung adenocarcinoma cells metastasis remains ambiguous. We determined whether C. cassia extract (CCE) reduces metastasis of human lung adenocarcinoma cells. The results showed that CCE treatment (up to 60 μg/mL) for 24 h exhibited no cytotoxicity on the A549 and H1299 cell lines but inhibited the motility, invasiveness, and migration of these cells by repressing matrix metalloproteinase (MMP)-2 and urokinase-type plasminogen activator (u-PA)...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29332133/fumarate-hydratase-fh-deficiency-in-uterine-leiomyomas-recognition-by-histological-features-versus-blind-immunoscreening
#11
Lisa Siegler, Ramona Erber, Stefanie Burghaus, Tobias Brodkorb, David Wachter, Nafisa Wilkinson, James Bolton, Helen Stringfellow, Florian Haller, Matthias W Beckmann, Arndt Hartmann, Abbas Agaimy
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare autosomal dominant disease caused by germline mutations in the fumarate hydratase (FH) gene. Affected individuals develop cutaneous and uterine leiomyomas and aggressive RCC. To date, only few publications described the frequency and morphology of FH-deficient uterine leiomyomas. We reviewed 22 cases collected over 8 years from routine and consultation files based on distinctive histological features. In addition, we screened 580 consecutive uterine leiomyomas from 484 patients, 23 extra-uterine and 8 uterine leiomyosarcomas, and 6 leiomyomas with bizarre nuclei for FH loss using immunohistochemistry (IHC) on tissue microarrays (TMAs)...
January 13, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29331982/a-false-carrier-state-for-the-c-579g-a-mutation-in-the-ncf1-gene-in-ashkenazi-jews
#12
Martin De Boer, Ronit Gavrieli, Karin van Leeuwen, Haike Reznik Wolf, Maya Dushnitzki, Yifaat Bar-Yosef, Anat Bar-Ziv, Doron Behar, Shlomo Lipitz, Tal Elkan Miller, Anton T J Tool, Taco W Kuijpers, Timo K van den Berg, Baruch Wolach, Dirk Roos, Elon Pras
BACKGROUND: Mutations in the NCF1 gene that encodes p47phox, a subunit of the NADPH oxidase complex, cause chronic granulomatous disease (CGD). In Kavkazi Jews, a c.579G>A (p.Trp193Ter) mutation in NCF1 is frequently found, leading to CGD. The same mutation is found in about 1% of Ashkenazi Jews, although Ashkenazi CGD patients with this mutation have never been described. METHODS: We used Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), gene scan analysis and Ion Torrent Next Generation Sequencing for genetic analysis, and measured NADPH oxidase activity and p47phox expression...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29331981/variant-in-c-terminal-region-of-intestinal-alkaline-phosphatase-associated-with-benign-familial-hyperphosphatasaemia
#13
Takayuki Ishige, Sakae Itoga, Emi Utsuno, Motoi Nishimura, Masaharu Yoshikawa, Naoya Kato, Kazuyuki Matsushita, Osamu Yokosuka, Fumio Nomura
BACKGROUND: A genetic diagnosis has been rarely performed in benign familial hyperphosphatasaemia, and molecular mechanism largely remains unclear. OBJECTIVES: We encountered a case with benign familial hyperphosphatasaemia of intestinal alkaline phosphatase (IAP). To elucidate the molecular mechanism, we performed ALPI gene sequencing and in vitro protein expression analysis. METHODS: ALPI gene was sequenced by long-range PCR and massively parallel sequencing...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29331980/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing
#14
Wen-Bin He, Chao-Feng Tu, Qiang Liu, Lan-Lan Meng, Shi-Min Yuan, Ai-Xiang Luo, Fu-Sheng He, Juan Shen, Wen Li, Juan Du, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Li-Qing Fan, Yue-Qiu Tan
BACKGROUND: The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE: To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. METHODS: We performed whole-exome sequencing of DNA from both affected patients. The identified candidate causative gene was further verified by Sanger sequencing for pedigree analysis in this family...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29331940/screening-and-functional-exploration-of-prothrombin-arg596-related-mutations-in-chinese-venous-thromboembolism-patients
#15
Xi Wu, Lei Li, Qiulan Ding, Xuefeng Wang, Fang Wu, Wenman Wu
AIMS: Dysfunctional prothrombin residue Arg596 associated mutation has been found to precipitate venous thromboembolism (VTE). In the current study we investigated the prevalence of Arg596 associated mutations in Chinese patients with VTE and explored the functional impact of Arg596Gln mutation on coagulation function in affected patients. METHODS: Prothrombin clotting activity was measured in 267 unrelated patients with unprovoked VTE. Patients with moderately decreased activities underwent further analysis of the F2 gene...
January 13, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29331938/generation-of-a-human-induced-pluripotent-stem-cell-line-csc-40-from-a-parkinson-s-disease-patient-with-a-pink1-p-q456x-mutation
#16
Kaspar Russ, Ana Marote, Ekaterina Savchenko, Anna Collin, Stefano Goldwurm, Yuriy Pomeshchik, Laurent Roybon
Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29331925/overexpression-of-chrysanthemum-lavandulifolium-clcbf1-in-chrysanthemum-morifolium-white-snow-improves-the-level-of-salinity-and-drought-tolerance
#17
Wenjie Gao, Miao He, Jie Liu, Xin Ma, Yu Zhang, Silan Dai, Yunwei Zhou
This paper reports the first study on plant CBF transcription factors (TF) in salt and drought stress responses in Chrysanthemum lavandulifolium. A CBF homolog gene, named as ClCBF1, from C. lavandulifolium was isolated using rapid amplification of cDNA ends (RACE). The deduced peptide is comprised of 210 amino acids (AA) containing an AP2 structural domain characteristic of the AP2 gene family. Quantitative real-time PCR revealed that ClCBF1 gene exhibit differential expression patterns across root, leaf and stem tissues, and it was strongly induced under salt and drought treatments of C...
January 8, 2018: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/29331924/gene-expression-patterns-regulating-the-seed-metabolism-in-relation-to-deterioration-ageing-of-primed-mung-bean-vigna-radiata-l-seeds
#18
Satyendra Nath Sharma, Ankita Maheshwari, Chitra Sharma, Nidhi Shukla
We are proposing mechanisms to account for the loss of viability (seed deterioration/ageing) and enhancement in seed quality (post-storage priming treatment). In order to understand the regulatory mechanism of these traits, we conducted controlled deterioration (CD) test for up to 8 d using primed mung bean seeds and examined how CD effects the expression of many genes, regulating the seed metabolism in relation to CD and priming. Germination declined progressively with increased duration of CD, and the priming treatment completely/partially reversed the inhibition depending on the duration of CD...
January 5, 2018: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/29331839/functional-characterization-of-a-novel-herg-variant-in-a-family-with-recurrent-sudden-infant-death-syndrome-retracting-a-genetic-diagnosis
#19
Valentine Sergeev, Frances Perry, Thomas M Roston, Shubhayan Sanatani, Glen F Tibbits, Thomas W Claydon
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2...
December 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29331826/pathway-and-mechanism-of-nitrogen-transformation-during-composting-functional-enzymes-and-genes-under-different-concentrations-of-pvp-agnps
#20
Guangming Zeng, Lihua Zhang, Haoran Dong, Yaoning Chen, Jiachao Zhang, Yuan Zhu, Yujie Yuan, Yankai Xie, Wei Fang
Polyvinylpyrrolidone coated silver nanoparticles (PVP-AgNPs) were applied at different concentrations to reduce total nitrogen (TN) losses and the mechanisms of nitrogen bio-transformation were investigated in terms of the nitrogen functional enzymes and genes. Results showed that mineral N in pile 3 which was treated with AgNPs at a concentration of 10 mg/kg compost was the highest (6.58 g/kg dry weight (DW) compost) and the TN loss (47.07%) was the lowest at the end of composting. Correlation analysis indicated that TN loss was significantly correlated with amoA abundance...
December 29, 2017: Bioresource Technology
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