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https://www.readbyqxmd.com/read/29353404/dna-methylation-rather-than-single-nucleotide-polymorphisms-regulates-the-production-of-an-aberrant-splice-variant-of-il6r-in-mastitic-cows
#1
Yan Zhang, Xiuge Wang, Qiang Jiang, Haisheng Hao, Zhihua Ju, Chunhong Yang, Yan Sun, Changfa Wang, Jifeng Zhong, Jinming Huang, Huabin Zhu
Interleukin-6 receptor-alpha (IL6R) interacts with IL6 and forms a ligand-receptor complex, which can stimulate various cellular responses, such as cell proliferation, cell differentiation, and activation of inflammatory processes. Both genetic mutation and epigenetic modification regulate gene transcription. We identified a novel splice variant of bovine IL6R, designated as IL6R-TV, which is characterized by the skipping of exon 2 of the NCBI-referenced IL6R gene (IL6R-reference). The expression levels of IL6R-TV and IL6R-reference transcripts were lower in normal mammary gland tissues...
January 20, 2018: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29353266/twenty-seven-mutations-with-three-novel-pathologenic-variants-causing-biotinidase-deficiency-a-report-of-203-patients-from-the-southeastern-part-of-turkey
#2
Berna Seker Yilmaz, Neslihan Onenli Mungan, Deniz Kor, Derya Bulut, Gülşah Seydaoglu, Murat Öktem, Serdar Ceylaner
BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile...
January 20, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#3
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29353234/psychiatric-symptoms-in-preclinical-behavioural-variant-frontotemporal-dementia-in-mapt-mutation-carriers
#4
Gayathri Cheran, Hannah Silverman, Masood Manoochehri, Jill Goldman, Seonjoo Lee, Liwen Wu, Sarah Cines, Emer Fallon, Brendan Desmond Kelly, Diana Angelika Olszewska, Judith Heidebrink, Sarah Shair, Stephen Campbell, Henry Paulson, Timothy Lynch, Stephanie Cosentino, Edward D Huey
OBJECTIVE: To characterise psychiatric symptoms in preclinical and early behavioural-variant frontotemporal dementia (bvFTD), a neurodegenerative disorder whose symptoms overlap with and are often mistaken for psychiatric illness. METHODS: The present study reports findings from a systematic, global, prospective evaluation of psychiatric symptoms in 12 preclinical carriers of pathogenic MAPT mutations, not yet meeting bvFTD diagnostic criteria, and 46 familial non-carrier controls...
January 20, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29353077/classification-of-heterogeneous-genetic-variations-of-microrna-regulome-in-cancer
#5
Karin Hrovatin, Tanja Kunej
Genetic variations and differential expression of miRNA regulome components are associated with cancer. Thus miRNA based diagnosis and treatments have been proposed. However, to better explore these options, the molecular changes in miRNA regulome must be understood. MicroRNAs can be involved in regulation of oncogenes and tumour suppressors. As each miRNA targets broad range of genes, minor changes in miRNAs can have great effects, contributing to cell transformation. Many genetic variants of miRNA regulome have been reported to be associated with cancer, but this information needs to be systematized...
January 15, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29353061/next-generation-sequencing-to-detect-deletion-of-rb1-and-erbb4-genes-in-chromophobe-renal-cell-carcinoma-a-potential-role-in-distinguishing-chromophobe-renal-cell-carcinoma-from-renal-oncocytoma
#6
Qingqing Liu, Kristine M Cornejo, Liang Cheng, Lloyd Hutchinson, Mingsheng Wang, Shaobo Zhang, Keith Tomaszewicz, Ediz F Cosar, Bruce A Woda, Zhong Jiang
Overlapping morphological, immunohistochemical, and ultrastructural features make it difficult to diagnose chromophobe renal cell carcinoma (ChRCC) and renal oncocytoma (RO). Since ChRCC is a malignant tumor, whereas RO is a tumor with benign behavior, it is important to distinguish these two entities. We aimed to identify genetic markers that distinguish ChRCC from RO by using next-generation sequencing (NGS). NGS for hotspot mutations or gene copy number changes was performed on 12 renal neoplasms including seven ChRCC and five RO cases...
January 15, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29353055/pituitary-adenylate-cyclase-activating-polypeptide-pacap-signaling-in-the-prefrontal-cortex-modulates-cued-fear-learning-but-not-spatial-working-memory-in-female-rats
#7
Adam J Kirry, Matthew R Herbst, Sarah E Poirier, Michelle M Maskeri, Amy C Rothwell, Robert C Twining, Marieke R Gilmartin
A genetic polymorphism within the gene encoding the pituitary adenylate-cyclase activating polypeptide (PACAP) receptor type I (PAC1R) has recently been associated with hyper-reactivity to threat-related cues in women, but not men, with post-traumatic stress disorder (PTSD). PACAP is a highly conserved peptide, whose role in mediating adaptive physiological stress responses is well established. Far less is understood about the contribution of PACAP signaling in emotional learning and memory, particularly the encoding of fear to discrete cues...
January 15, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29352600/placental-control-of-metabolic-adaptations-in-the-mother-for-an-optimal-pregnancy-outcome-what-goes-wrong-in-gestational-diabetes
#8
David J Hill
As pregnancy progresses the placental syncytiotrophoblast increasingly assumes control of maternal glucose homeostasis through the release and counter-balancing effects of placental lactogen (PL) and placental variant growth hormone (GH-V). While local actions of these hormones on placental growth and function are likely to exist, each also exerts indirect actions to ensure fetal nutritional availability through modulation of the maternal insulin/insulin-like growth factor axis. Peripheral insulin resistance results from the increasing levels of GH-V in the maternal circulation and is counter-balanced by an increase in insulin availability through an expansion of maternal pancreatic β-cell mass...
January 9, 2018: Placenta
https://www.readbyqxmd.com/read/29352599/-detection-of-chlamydia-abortus-in-bovine-reproductive-losses-in-the-province-of-la-pampa-argentina
#9
María Del C Rojas, Marcelo Fort, Simone Bettermann, Carolina Entrocassi, Sixto R Costamagna, Konrad Sachse, Marcelo Rodríguez Fermepin
Reproductive losses linked to an infectious etiology in bovine cattle are a major economic concern worldwide. In Argentina, more than 50% of abortion cases have unknown causes. Species belonging to Chlamydiaceae family are frequent etiologic agents of abortion around the world; however, there is yet no information on their prevalence in Argentina. The objective of this work was to identify Chlamydia spp., and particularly C. abortus in reproductive losses from bovine cattle in La Pampa, Argentina. Real time PCR targeting Chlamydiaceae-specific DNA fragments was performed on 251 samples obtained from bovine abortions and stillborns, and ArrayTube was used for species identification on positive samples...
January 16, 2018: Revista Argentina de Microbiología
https://www.readbyqxmd.com/read/29352517/mirna-binding-site-variants-of-type-2-diabetes-candidate-loci-predispose-to-gestational-diabetes-mellitus-in-chinese-han-women
#10
Xiaojing Wang, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
AIMS/INTRODUCTION: Emerging evidence suggested that the genetic background of GDM was analogous to T2DM. In contrast to T2DM, the genetic studies for GDM were limited. Accordingly, the aim of this study was to extensively explore the influence of miR-binding-SNPs in T2DM candidate loci on GDM susceptibility in Chinese. METERIALS AND METHODS: A total of 839 GDM and 900 controls were enrolled. Six miR-binding-SNPs were selected from 30 T2DM susceptibility loci and genotyped using TaqMan allelic discrimination assays...
January 20, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29352372/improving-pet-quantification-of-small-animal-68ga-dota-labeled-pet-ct-studies-by-using-a-ct-based-positron-range-correction
#11
Jacobo Cal-Gonzalez, Juan José Vaquero, Joaquín L Herraiz, Mailyn Pérez-Liva, María Luisa Soto-Montenegro, Santiago Peña-Zalbidea, Manuel Desco, José Manuel Udías
PURPOSE: Image quality of positron emission tomography (PET) tracers that emits high-energy positrons, such as Ga-68, Rb-82, or I-124, is significantly affected by positron range (PR) effects. PR effects are especially important in small animal PET studies, since they can limit spatial resolution and quantitative accuracy of the images. Since generators accessibility has made Ga-68 tracers wide available, the aim of this study is to show how the quantitative results of [68Ga]DOTA-labeled PET/X-ray computed tomography (CT) imaging of neuroendocrine tumors in mice can be improved using positron range correction (PRC)...
January 19, 2018: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/29352324/efficient-genome-wide-genotyping-strategies-and-data-integration-in-crop-plants
#12
REVIEW
Davoud Torkamaneh, Brian Boyle, François Belzile
Next-generation sequencing (NGS) has revolutionized plant and animal research by providing powerful genotyping methods. This review describes and discusses the advantages, challenges and, most importantly, solutions to facilitate data processing, the handling of missing data, and cross-platform data integration. Next-generation sequencing technologies provide powerful and flexible genotyping methods to plant breeders and researchers. These methods offer a wide range of applications from genome-wide analysis to routine screening with a high level of accuracy and reproducibility...
January 19, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29352316/kansl1-variation-is-not-a-major-contributing-factor-in-self-limited-focal-epilepsy-syndromes-of-childhood
#13
Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have focal seizures with some having a phenotype resembling the self-limited focal epilepsies of childhood (SFEC). We hypothesized that variants in KANSL1 contribute to pathogenesis of SFEC. MATERIALS AND METHODS: We screened KANSL1 for single nucleotide variants in 90 patients with SFEC...
2018: PloS One
https://www.readbyqxmd.com/read/29352283/using-a-model-comparison-approach-to-describe-the-assembly-pathway-for-histone-h1
#14
Carlos Contreras, Minaya Villasana, Michael J Hendzel, Gustavo Carrero
Histones H1 or linker histones are highly dynamic proteins that diffuse throughout the cell nucleus and associate with chromatin (DNA and associated proteins). This binding interaction of histone H1 with the chromatin is thought to regulate chromatin organization and DNA accessibility to transcription factors and has been proven to involve a kinetic process characterized by a population that associates weakly with chromatin and rapidly dissociates and another population that resides at a binding site for up to several minutes before dissociating...
2018: PloS One
https://www.readbyqxmd.com/read/29352264/cell-autonomous-role-of-iaspp-deficiency-in-causing-cardiocutaneous-disorders
#15
Zinaida Dedeić, Gopinath Sutendra, Ying Hu, Kathryn Chung, Elizabeth A Slee, Michael J White, Felix Y Zhou, Robert D Goldin, David J P Ferguson, Debra McAndrew, Jurgen E Schneider, Xin Lu
Desmosome components are frequently mutated in cardiac and cutaneous disorders in animals and humans and enhanced inflammation is a common feature of these diseases. Previous studies showed that inhibitor of Apoptosis Stimulating p53 Protein (iASPP) regulates desmosome integrity at cell-cell junctions and transcription in the nucleus, and its deficiency causes cardiocutaneous disorder in mice, cattle, and humans. As iASPP is a ubiquitously expressed shuttling protein with multiple functions, a key question is whether the observed cardiocutaneous phenotypes are caused by loss of a cell autonomous role of iASPP in cardiomyocytes and keratinocytes specifically or by a loss of iASPP in other cell types such as immune cells...
January 19, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29352165/construction-of-full-length-japanese-reference-panel-of-class-i-hla-genes-with-single-molecule-real-time-sequencing
#16
Takahiro Mimori, Jun Yasuda, Yoko Kuroki, Tomoko F Shibata, Fumiki Katsuoka, Sakae Saito, Naoki Nariai, Akira Ono, Naomi Nakai-Inagaki, Kazuharu Misawa, Keiko Tateno, Yosuke Kawai, Nobuo Fuse, Atsushi Hozawa, Shinichi Kuriyama, Junichi Sugawara, Naoko Minegishi, Kichiya Suzuki, Kengo Kinoshita, Masao Nagasaki, Masayuki Yamamoto
Human leukocyte antigen (HLA) is a gene complex known for its exceptional diversity across populations, importance in organ and blood stem cell transplantation, and associations of specific alleles with various diseases. We constructed a Japanese reference panel of class I HLA genes (ToMMo HLA panel), comprising a distinct set of HLA-A, HLA-B, HLA-C, and HLA-H alleles, by single-molecule, real-time (SMRT) sequencing of 208 individuals included in the 1070 whole-genome Japanese reference panel (1KJPN). For high-quality allele reconstruction, we developed a novel pipeline, Primer-Separation Assembly and Refinement Pipeline (PSARP), in which the SMRT sequencing and additional short-read data were used...
January 19, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29352151/effects-of-genetic-variants-on-platelet-reactivity-and-one-year-clinical-outcomes-after-percutaneous-coronary-intervention-a-prospective-multicentre-registry-study
#17
Hyung Joon Joo, Sung Gyun Ahn, Jae Hyoung Park, Ji Young Park, Soon Jun Hong, Seok-Yeon Kim, WoongGil Choi, HyeonCheol Gwon, Young-Hyo Lim, Weon Kim, Woong Chol Kang, Yun-Hyeong Cho, Yong Hoon Kim, JungHan Yoon, WonYong Shin, Myeong-Ki Hong, Scot Garg, Yangsoo Jang, Do-Sun Lim
Clopidogrel is the mainstay for antiplatelet treatment after percutaneous coronary intervention (PCI). The relationship of platelet reactivity and genetic polymorphism with clinical outcomes with newer-generation drug-eluting stents is unclear. We analysed 4,587 patients for the most powerful single-nucleotide polymorphisms (CYP2C19, CYP2C9, ABCB1, PON1, and P2Y12) related to on-treatment platelet reactivity (OPR). The optimal cut-off value of high OPR for major adverse thrombotic events was 266. CYP2C19 was significantly associated with high OPR and the number of CYP2C19*R (*2 or *3) alleles was proportional to the increased risk of high OPR...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29352080/functional-analysis-of-cancer-associated-dna-polymerase-%C3%AE%C2%B5-variants-in-saccharomyces-cerevisiae
#18
Stephanie R Barbari, Daniel P Kane, Elizabeth A Moore, Polina V Shcherbakova
DNA replication fidelity relies on base selectivity of the replicative DNA polymerases, exonucleolytic proofreading, and post-replicative DNA mismatch repair (MMR). Ultramutated human cancers without MMR defects carry alterations in the exonuclease domain of DNA polymerase ε (Polε). They have been hypothesized to result from defective proofreading. However, modeling in yeast of the most common variant, Polε-P286R, produced an unexpectedly strong mutator effect that exceeded the effect of proofreading deficiency by two orders of magnitude and indicated the involvement of other infidelity factors...
January 19, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29352038/microenvironment-induced-cd44v6-promotes-early-disease-progression-in-chronic-lymphocytic-leukemia
#19
Julia C Gutjahr, Eva Szenes, Lisa Tschech, Daniela Asslaber, Michaela Schlederer, Simone Roos, Xiaobing Yu, Tamara Girbl, Christina Sternberg, Alexander Egle, Fritz Aberger, Ronen Alon, Lukas Kenner, Richard Greil, Veronique Orian-Rousseau, Tanja N Hartmann
Chronic lymphocytic leukemia (CLL) outgrowth depends on signals from the microenvironment. We have previously found that in vitro reconstitution of this microenvironment induces specific variant isoforms of the adhesion molecule CD44, which confer human CLL with high affinity to hyaluronan (HA). Here, we determined the in vivo contribution of standard CD44 and its variants to leukemic B-cell homing and proliferation in Tcl1 transgenic mice with a B-cell-specific CD44 deficiency. In these mice, leukemia onset was delayed and leukemic infiltration of spleen, liver, and lungs, but not of bone marrow was decreased...
January 19, 2018: Blood
https://www.readbyqxmd.com/read/29352018/oncohistones-drivers-of-pediatric-cancers
#20
REVIEW
Faizaan Mohammad, Kristian Helin
One of the most striking results in the area of chromatin and cancer in recent years has been the identification of recurrent mutations in histone genes in pediatric cancers. These mutations occur at high frequency and lead to the expression of mutant histones that exhibit oncogenic features. Thus, they are termed oncohistones. Thus far, mutations have been found in the genes encoding histone H3 and its variants. The expression of the oncohistones affects the global chromatin landscape through mechanisms that have just begun to be unraveled...
December 1, 2017: Genes & Development
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