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https://www.readbyqxmd.com/read/29793059/longitudinal-surveillance-of-drug-resistance-in-plasmodium-falciparum-isolates-from-the-china-myanmar-border-reveals-persistent-circulation-of-multidrug-resistant-parasites
#1
Yao Bai, Jiaqi Zhang, Jinting Geng, Shiling Xu, Shuang Deng, Weilin Zeng, Zenglei Wang, Huguette Gaelle Ngassa Mbenda, Jie Zhang, Na Li, Yanrui Wu, Cuiying Li, Huae Liu, Yonghua Ruan, Yaming Cao, Zhaoqing Yang, Liwang Cui
Multidrug-resistant Plasmodium falciparum in the Greater Mekong Subregion of Southeast Asia is a major threat to malaria elimination and requires close surveillance. In this study, we collected 107 longitudinal clinical samples of P. falciparum in 2007-2012 from the malaria hypoendemic region of the China-Myanmar border and measured their in vitro susceptibilities to 10 antimalarial drugs. Overall, parasites had significantly different IC50 values to all the drugs tested as compared to the reference 3D7 strain...
May 21, 2018: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29793058/the-transcription-factor-skn-1-and-detoxification-gene-ugt-22-alter-albendazole-efficacy-in-caenorhabditis-elegans
#2
Pauline Fontaine, Keith Choe
Parasitic nematodes infect over 1/4 th of the human population and are a major burden on livestock and crop production. Benzimidazole class anthelmintics are widely used to treat infections, but resistance is a widespread problem. Mutation of genes encoding the benzimidazole target β-tubulin is a well-established mechanism of resistance, but recent evidence suggests that metabolism of the drugs may also occur. Our objective was to investigate contributions of the detoxification-response transcription factor SKN-1 to anthelmintic drug resistance using C...
April 25, 2018: International Journal for Parasitology, Drugs and Drug Resistance
https://www.readbyqxmd.com/read/29793047/transcript-profiling-of-salt-tolerant-tobacco-mutants-generated-via-mutation-breeding
#3
Özge Çelik, Aybüke Ekşioğlu, Enes Yağız Akdaş
The main aim of the study is to identify the genes differentially, predominantly or specifically expressed in salt tolerant tobacco mutants, improved from Akhisar 97 and İzmir Özbaş varieties via mutation breeding, with respect to unstressed control plants. Seven tobacco mutants which have different salt tolerance capacities were evaluated by Gene Fishing analysis. Under stress conditions differentially expressed 100 reproducible bands were identified (74 of up-regulated and 20 of down-regulated while 6 were unknown)...
May 21, 2018: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/29793020/epha2-stimulates-vcam-1-expression-through-calcium-dependent-nfat1-activity
#4
Steven Daniel Funk, Alexandra C Finney, Arif Yurdagul, Christopher B Pattillo, A Wayne Orr
Endothelial cell activation by proinflammatory stimuli drives leukocyte recruitment through enhanced expression of counter-receptors such as vascular cell adhesion molecule-1 (VCAM-1). We previously demonstrated that activation of the receptor tyrosine kinase EphA2 with its ligand ephrin-A1 induces VCAM-1 expression. Here, we sought to characterize the proinflammatory signaling pathways involved. Analysis of over-represented transcription factors in ephrin-A1-induced genes identified multiple potential transcriptional regulators, including the Rel family members nuclear factor-κB (NF-κB/p65) and nuclear factor of activated T-cells (NFAT)...
May 21, 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29792937/a-reliable-targeted-next-generation-sequencing-strategy-for-diagnosis-of-myopathies-and-muscular-dystrophies-especially-for-the-giant-titin-and-nebulin-genes
#5
Reda Zenagui, Delphine Lacourt, Henri Pegeot, Kevin Yauy, Raul Juntas Morales, Corine Theze, François Rivier, Claude Cances, Guilhem Sole, Dimitri Renard, Ulrike Walther-Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie-Christine Arné-Bes, Pascal Cintas, Emmanuelle Uro-Coste, Marie-Laure Martin Negrier, Valérie Rigau, Eric Bieth, Cyril Goizet, Mireille Claustres, Michel Koenig, Mireille Cossée
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with more than 100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis and revealed high frequency of TTN and NEB variants. We developed a next-generation sequencing diagnostic strategy targeted on the coding sequences of 135 M-MD genes. Comparison of two targeted capture technologies (SeqCap EZ Choice library capture kit (Roche-Nimblegen) and Nextera Rapid Capture Custom Enrichment kit (Illumina)) and of two whole exome sequencing kits (SureSelect V5 (Agilent) and TruSeq RapidExome capture (Illumina)) revealed best coverage with the SeqCap EZ Choice protocol...
May 21, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29792936/efficient-detection-of-copy-number-mutations-in-pms2-exons-with-close-homologs-detection-of-copy-number-variants-in-3-pms2-exons
#6
Daniel S Herman, Christina Smith, Chang Liu, Cecily P Vaughn, Selvi Palaniappan, Colin C Pritchard, Brian H Shirts
Detection of 3' PMS2 copy number mutations that cause Lynch syndrome is difficult, because of highly homologous pseudogenes. To improve the accuracy and efficiency of clinical screening for these mutations, we developed a new method to analyze standard capture-based, next-generation sequencing data to identify deletions and duplications in PMS2 exons 9 to 15. The approach captures sequence reads using PMS2 targets, maps sequences randomly amongst regions with equal mapping quality, counts reads aligned to homologous exons and introns, and flags read count ratios outside of empirically derived reference ranges...
May 21, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29792928/translation-of-dipeptide-repeat-proteins-from-the-c9orf72-expanded-repeat-is-associated-with-cellular-stress
#7
Yoshifumi Sonobe, Ghanashyam Ghadge, Katsuhisa Masaki, Ataman Sendoel, Elaine Fuchs, Raymond P Roos
Expansion of a hexanucleotide repeat (HRE), GGGGCC, in the C9ORF72 gene is recognized as the most common cause of familial amyotrophic lateral sclerosis (FALS), frontotemporal dementia (FTD) and ALS-FTD, as well as 5-10% of sporadic ALS. Despite the location of the HRE in the non-coding region (with respect to the main C9ORF72 gene product), dipeptide repeat proteins (DPRs) that are thought to be toxic are translated from the HRE in all three reading frames from both the sense and antisense transcript. Here, we identified a CUG translation initiation codon that has a good Kozak consensus sequence as the translation initiation codon...
May 21, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29792862/the-reason-for-the-low-ca-2-sensitivity-of-thin-filaments-associated-with-the-glu41lys-mutation-in-the-tpm2-gene-is-freezing-of-tropomyosin-near-the-outer-domain-of-actin-and-inhibition-of-actin-monomer-switching-off-during-the-atpase-cycle
#8
Stanislava V Avrova, Olga E Karpicheva, Nikita A Rysev, Armen O Simonyan, Vladimir V Sirenko, Charles S Redwood, Yurii S Borovikov
The E41K mutation in TPM2 gene encoding muscle regulatory protein beta-tropomyosin is associated with nemaline myopathy and cap disease. The mutation results in a reduced Ca2+ -sensitivity of the thin filaments and in muscle weakness. To elucidate the structural basis of the reduced Ca2+ -sensitivity of the thin filaments, we studied multistep changes in spatial arrangement of tropomyosin (Tpm), actin and myosin heads during the ATPase cycle in reconstituted fibers, using the polarized fluorescence microscopy...
May 21, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29792392/hemizygous-fabry-disease-associated-with-membranous-nephropathy-a-rare-case-report
#9
Wenyan Zhou, Zhaohui Ni, Minfang Zhang
BACKGROUND: Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with membranous nephropathy (MN). CASE PRESENTATION: A 30-year-old man with nephrotic proteinuria, normal renal function, and no other extrarenal manifestations underwent a renal biopsy in February 2017. Light microscopy and immunofluorescence indicated MN (stage 1)...
May 24, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#10
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792170/liddle-s-like-syndrome-associated-with-nephrotic-syndrome-secondary-to-membranous-nephropathy-the-first-case-report
#11
Eriko Yamaguchi, Kazuhiro Yoshikawa, Izaya Nakaya, Karen Kato, Yoshikazu Miyasato, Terumasa Nakagawa, Yutaka Kakizoe, Masashi Mukoyama, Jun Soma
BACKGROUND: Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel (ENaC) β or γ subunits. Patients with this syndrome present with early onset of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronism, and a potassium-sparing diuretics (triamterene or amiloride) can drastically improves the disease condition. Although elderly patients having these characteristics were considered to have Liddle's syndrome or Liddle's-like syndrome, no previous report has indicated that Liddle's-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of > 3 g of protein/day plus edema and hypoalbuminemia, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria...
May 23, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29791908/a-de-novo-kcna1-mutation-in-a-patient-with-tetany-and-hypomagnesemia
#12
Jenny van der Wijst, Martin Konrad, Sjoerd A J Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H F de Baaij
Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum magnesium (Mg2+) levels in these patients. In the present study, we describe a new de novo KCNA1 mutation in a Polish patient with tetany and hypomagnesemia...
May 23, 2018: Nephron
https://www.readbyqxmd.com/read/29791902/the-molecular-pathology-of-myelodysplastic-syndrome
#13
Torsten Haferlach
The diagnosis and classification of myelodysplastic syndromes (MDS) are based on cytomorphology and cytogenetics (WHO classification). Prognosis is best defined by the Revised International Prognostic Scoring System (IPSS-R). In recent years, an increasing number of molecular aberrations have been discovered. They are already included in the classification (e.g., SF3B1) and, more importantly, have emerged as valuable markers for better classification, particularly for defining risk groups. Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS...
May 23, 2018: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29791841/functional-genomic-screening-reveals-core-modulators-of-echinocandin-stress-responses-in-candida-albicans
#14
Tavia Caplan, Elizabeth J Polvi, Jinglin L Xie, Shoshana Buckhalter, Michelle D Leach, Nicole Robbins, Leah E Cowen
Candida albicans is a leading cause of death due to fungal infection. Treatment of systemic candidiasis often relies on echinocandins, which disrupt cell wall synthesis. Resistance is readily acquired via mutations in the drug target gene, FKS1. Both basal tolerance and resistance to echinocandins require cellular stress responses. We performed a systematic analysis of 3,030 C. albicans mutants to define circuitry governing cellular responses to echinocandins. We identified 16 genes for which deletion or transcriptional repression enhanced echinocandin susceptibility, including components of the Pkc1-MAPK signaling cascade...
May 22, 2018: Cell Reports
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#15
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29791608/hiv-1-genetic-diversity-and-resistance-to-antiretroviral-drugs-among-pregnant-women-in-ribeir%C3%A3-o-preto-sp-brazil-cross-sectional-study
#16
Ana Teresa Mancini Pimenta, Isadora Alonso Correa, Patricia Pereira Dos Santos Melli, Renata Abduch, Geraldo Duarte, José Carlos Couto-Fernandez, Silvana Maria Quintana
BACKGROUND: Increasing genetic diversity of HIV-1 and emergence of drug-resistant mutations may reduce the efficacy of antiretroviral therapy and prophylaxis that are used to prevent mother-to-child transmission. The aim of this study was to assess the genetic diversity and prevalence of drug-resistant mutations among HIV-infected pregnant women. DESIGN AND SETTING: Cross-sectional study at an outpatient clinic for infectious diseases within gynecology and obstetrics...
March 2018: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/29791499/perturbation-of-the-metabolic-network-in-salmonella-enterica-reveals-cross-talk-between-coenzyme-a-and-thiamine-pathways
#17
Dustin C Ernst, Andrew J Borchert, Diana M Downs
Microorganisms respond to a variety of metabolic perturbations by repurposing or recruiting pathways to reroute metabolic flux and overcome the perturbation. Elimination of the 2-dehydropantoate 2-reductase, PanE, both reduces total coenzyme A (CoA) levels and causes a conditional HMP-P auxotrophy in Salmonella enterica. CoA or acetyl-CoA has no demonstrable effect on the HMP-P synthase, ThiC, in vitro. Suppressors aimed at probing the connection between the biosynthesis of thiamine and CoA contained mutations in the gene encoding the ilvC transcriptional regulator, ilvY...
2018: PloS One
https://www.readbyqxmd.com/read/29791426/-familiar-adenomatous-polyposis-report-of-2-cases
#18
Luis Vásquez Elera, Patricia Guzman Rojas, Manuel Sánchez Herrera, Víctor Prado, Carlos García Encinas, Eduar Albán Bravo Paredes, Alejandro Bussalleu
Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of theAPC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy...
January 2018: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#19
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29791171/-diagnosis-of-mody-brief-overview-for-clinical-practice
#20
Jana Urbanová, Ludmila Brunerová, Jan Brož
Maturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient´s relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult...
2018: Vnitr̆ní Lékar̆ství
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