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https://www.readbyqxmd.com/read/29535370/genome-wide-association-study-gwas-of-human-host-factors-influencing-viral-severity-of-herpes-simplex-virus-type-2-hsv-2
#1
Sarah E Kleinstein, Patrick R Shea, Andrew S Allen, David M Koelle, Anna Wald, David B Goldstein
Herpes simplex virus type 2 (HSV-2) is an incurable viral infection with severity ranging from asymptomatic to frequent recurrences. The viral shedding rate has been shown as a reproducible HSV-2 severity end point that correlates with lesion rates. We used a genome-wide association study (GWAS) to investigate the role of common human genetic variation in HSV-2 severity. We performed a GWAS on 223 HSV-2-positive participants of European ancestry. Severity was measured by viral shedding rate, as defined by the percent of days PCR+ for HSV-2 DNA over at least 30 days...
February 28, 2018: Genes and Immunity
https://www.readbyqxmd.com/read/29504908/exome-analysis-of-carotid-body-tumor
#2
Anastasiya V Snezhkina, Elena N Lukyanova, Dmitry V Kalinin, Anatoly V Pokrovsky, Alexey A Dmitriev, Nadezhda V Koroban, Elena A Pudova, Maria S Fedorova, Nadezhda N Volchenko, Oleg A Stepanov, Ekaterina A Zhevelyuk, Sergey L Kharitonov, Anastasiya V Lipatova, Ivan S Abramov, Alexander V Golovyuk, Yegor E Yegorov, Khava S Vishnyakova, Alexey A Moskalev, George S Krasnov, Nataliya V Melnikova, Dmitry S Shcherbo, Marina V Kiseleva, Andrey D Kaprin, Boris Y Alekseev, Andrew R Zaretsky, Anna V Kudryavtseva
BACKGROUND: Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving at least one of more than thirty causative genes. However, the specific functionality of a number of these genes involved in the formation of paragangliomas has not yet been fully investigated. METHODS: Exome library preparation was carried out using Nextera® Rapid Capture Exome Kit (Illumina, USA)...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29465760/angelica-sinensis-polysaccharide-inhibits-proliferation-migration-and-invasion-by-down-regulating-microrna-675-in-human-neuroblastoma-cell-line-sh-sy5y
#3
Jing Yang, Xiaojun Shao, Jian Jiang, Yan Sun, Lingzhen Wang, Lirong Sun
Neuroblastoma is the most common tumor diagnosed in children and infants, with high recurrence and poor prognosis. Angelica sinensis polysaccharide (AP) whose average molecular weight is 72900 Da possesses various bioactivities. We aimed to explore the effects of AP on neuroblastoma SH-SY5Y cells as well as the underlying mechanisms. Effects of AP on cell viability, proliferation, apoptosis, migration, invasion and expressions of long noncoding RNA H19 (lncRNA-H19), microRNA (miR)-675 and CD44 were assessed...
February 21, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29453919/genetic-and-epigenetic-differences-of-benign-and-malignant-pheochromocytomas-and-paragangliomas-ppgls
#4
Fatemeh Khatami, Mahsa Mohammadamoli, Seyed Mohammad Tavangar
Pheochromocytomas and paragangliomas (PPGLs) are tumors arising from the adrenal medulla and sympathetic/parasympathetic paraganglia, respectively. According to Th e Cancer Genome Atlas (TCGA), approximately 40% of PPGLs are due to germ line mutations in one of 16 susceptibility genes, and a further 30% are due to somatic alterations in at least seven main genes (VHL, EPAS1, CSDE1, MAX, HRAS, NF1, RET, and possibly KIF1B). Th e diagnosis of malignant PPGL was straight forward in most cases as it was defined as presence of PPGL in non-chromaffin tissues...
January 1, 2018: Endocrine Regulations
https://www.readbyqxmd.com/read/29144820/pheochromocytoma-a-genetic-and-diagnostic-update
#5
Leilani B Mercado-Asis, Katherine I Wolf, Ivana Jochmanova, David Taïeb
OBJECTIVE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from adrenal or extra-adrenal locations, respectively. Upon suspicion of PPGL, specific metabolomic, molecular, biochemical, imaging, and histopathologic studies are performed to prove, localize, treat, and monitor disease progression. Improved diagnostic tools allow physicians to accurately diagnose PPGL, even in patients presenting with small (<1 cm) or biochemically silent tumors, which previously delayed proper detection and treatment...
January 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29113313/whole-exome-analysis-in-osteosarcoma-to-identify-a-personalized-therapy
#6
Caterina Chiappetta, Massimiliano Mancini, Francesca Lessi, Paolo Aretini, Veronica De Gregorio, Chiara Puggioni, Raffaella Carletti, Vincenzo Petrozza, Prospero Civita, Sara Franceschi, Antonio G Naccarato, Carlo Della Rocca, Chiara M Mazzanti, Claudio Di Cristofano
Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases. Despite many advances in cancer research, chemotherapy regimens for osteosarcoma are still based on non-selective cytotoxic drugs. It is essential to investigate new specific molecular therapies for osteosarcoma to increase the survival rate of these patients. We performed exomic sequence analyses of 8 diagnostic biopsies of patients with conventional high grade osteosarcoma to advance our understanding of their genetic underpinnings and to correlate the genetic alteration with the clinical and pathological features of each patient to identify a personalized therapy...
October 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/29073112/dynein-dynactin-is-necessary-for-anterograde-transport-of-mbp-mrna-in-oligodendrocytes-and-for-myelination-in-vivo
#7
Amy L Herbert, Meng-Meng Fu, Catherine M Drerup, Ryan S Gray, Breanne L Harty, Sarah D Ackerman, Thomas O'Reilly-Pol, Stephen L Johnson, Alex V Nechiporuk, Ben A Barres, Kelly R Monk
Oligodendrocytes in the central nervous system produce myelin, a lipid-rich, multilamellar sheath that surrounds axons and promotes the rapid propagation of action potentials. A critical component of myelin is myelin basic protein (MBP), expression of which requires anterograde mRNA transport followed by local translation at the developing myelin sheath. Although the anterograde motor kinesin KIF1B is involved in mbp mRNA transport in zebrafish, it is not entirely clear how mbp transport is regulated. From a forward genetic screen for myelination defects in zebrafish, we identified a mutation in actr10 , which encodes the Arp11 subunit of dynactin, a critical activator of the retrograde motor dynein...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29060936/overexpression-of-kinesin-superfamily-motor-proteins-in-alzheimer-s-disease
#8
Kelly Hares, James Scott Miners, Amelia Jane Cook, Claire Rice, Neil Scolding, Seth Love, Alastair Wilkins
Defects in motor protein-mediated neuronal transport mechanisms have been implicated in a number of neurodegenerative disorders but remain relatively little studied in Alzheimer's disease (AD). Our aim in the present study was to assess the expression of the anterograde kinesin superfamily motor proteins KIF5A, KIF1B, and KIF21B, and to examine their relationship to levels of hyperphosphorylated tau, amyloid-β protein precursor (AβPP), and amyloid-β (Aβ) in human brain tissue. We used a combination of qPCR, immunoblotting, and ELISA to perform these analyses in midfrontal cortex from 49 AD and 46 control brains...
October 16, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28993468/a-ragulator-borc-interaction-controls-lysosome-positioning-in-response-to-amino-acid-availability
#9
Jing Pu, Tal Keren-Kaplan, Juan S Bonifacino
Lysosomes play key roles in the cellular response to amino acid availability. Depletion of amino acids from the medium turns off a signaling pathway involving the Ragulator complex and the Rag guanosine triphosphatases (GTPases), causing release of the inactive mammalian target of rapamycin complex 1 (mTORC1) serine/threonine kinase from the lysosomal membrane. Decreased phosphorylation of mTORC1 substrates inhibits protein synthesis while activating autophagy. Amino acid depletion also causes clustering of lysosomes in the juxtanuclear area of the cell, but the mechanisms responsible for this phenomenon are poorly understood...
December 4, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28932682/stroke-associated-pattern-of-gene-expression-previously-identified-by-machine-learning-is-diagnostically-robust-in-an-independent-patient-population
#10
Grant C O'Connell, Paul D Chantler, Taura L Barr
Our group recently employed genome-wide transcriptional profiling in tandem with machine-learning based analysis to identify a ten-gene pattern of differential expression in peripheral blood which may have utility for detection of stroke. The objective of this study was to assess the diagnostic capacity and temporal stability of this stroke-associated transcriptional signature in an independent patient population. Publicly available whole blood microarray data generated from 23 ischemic stroke patients at 3, 5, and 24 h post-symptom onset, as well from 23 cardiovascular disease controls, were obtained via the National Center for Biotechnology Information Gene Expression Omnibus...
December 2017: Genomics Data
https://www.readbyqxmd.com/read/28724962/novel-transcriptional-signatures-for-sputum-independent-diagnostics-of-tuberculosis-in-children
#11
John Espen Gjøen, Synne Jenum, Dhanasekaran Sivakumaran, Aparna Mukherjee, Ragini Macaden, Sushil K Kabra, Rakesh Lodha, Tom H M Ottenhoff, Marielle C Haks, Timothy Mark Doherty, Christian Ritz, Harleen M S Grewal
Pediatric tuberculosis (TB) is challenging to diagnose, confirmed by growth of Mycobacterium tuberculosis at best in 40% of cases. The WHO has assigned high priority to the development of non-sputum diagnostic tools. We therefore sought to identify transcriptional signatures in whole blood of Indian children, capable of discriminating intra-thoracic TB disease from other symptomatic illnesses. We investigated the expression of 198 genes in a training set, comprising 47 TB cases (19 definite/28 probable) and 36 asymptomatic household controls, and identified a 7- and a 10-transcript signature, both including NOD2, GBP5, IFITM1/3, KIF1B and TNIP1...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28708590/whole-exome-analysis-in-osteosarcoma-to-identify-a-personalized-therapy
#12
Caterina Chiappetta, Massimiliano Mancini, Francesca Lessi, Paolo Aretini, Veronica De Gregorio, Chiara Puggioni, Raffaella Carletti, Vincenzo Petrozza, Prospero Civita, Sara Franceschi, Antonio G Naccarato, Carlo Della Rocca, Chiara M Mazzanti, Claudio Di Cristofano
Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases. Despite many advances in cancer research, chemotherapy regimens for osteosarcoma are still based on non-selective cytotoxic drugs. It is essential to investigate new specific molecular therapies for osteosarcoma to increase the survival rate of these patients. We performed exomic sequence analyses of 8 diagnostic biopsies of patients with conventional high grade osteosarcoma to advance our understanding of their genetic underpinnings and to correlate the genetic alteration with the clinical and pathological features of each patient to identify a personalized therapy...
July 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28637693/neuroblast-differentiation-during-development-and-in-neuroblastoma-requires-kif1b%C3%AE-mediated-transport-of-trka
#13
Stuart M Fell, Shuijie Li, Karin Wallis, Anna Kock, Olga Surova, Vilma Rraklli, Carolin S Höfig, Wenyu Li, Jens Mittag, Marie Arsenian Henriksson, Rajappa S Kenchappa, Johan Holmberg, Per Kogner, Susanne Schlisio
We recently identified pathogenic KIF1Bβ mutations in sympathetic nervous system malignancies that are defective in developmental apoptosis. Here we deleted KIF1Bβ in the mouse sympathetic nervous system and observed impaired sympathetic nervous function and misexpression of genes required for sympathoadrenal lineage differentiation. We discovered that KIF1Bβ is required for nerve growth factor (NGF)-dependent neuronal differentiation through anterograde transport of the NGF receptor TRKA. Moreover, pathogenic KIF1Bβ mutations identified in neuroblastoma impair TRKA transport...
May 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28515046/kif1b-and-nf1-are-the-most-frequently-mutated-genes-in-paraganglioma-tumors
#14
Lucie Evenepoel, Raphaël Helaers, Laurent Vroonen, Selda Aydin, Marc Hamoir, Dominique Maiter, Miikka Vikkula, Alexandre Persu
Dear Editor, Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Forty percent are explained by germline mutations in known susceptibility genes. Furthermore, somatic mutations were identified in an additional 30% of PPGL, mostly in NF1, RET, VHL, MAX, and HRAS. However, screening is limited to a few studies mainly using Sanger sequencing (Burnichon, et al. 2012; Burnichon, et al. 2011; Crona, et al. 2013; Luchetti, et al...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28427253/meta-analysis-of-the-correlation-between-the-rs17401966-polymorphism-in-kinesin-family-member-1b-and-susceptibility-to-hepatitis-b-virus-related-hepatocellular-carcinoma
#15
Mingkuan Su, Jianfeng Guo, Jiancheng Huang
BACKGROUND/AIMS: The association between the kinesin family member 1B (KIF1B) gene polymorphism and the risk of hepatitis B virus-related hepatocellular carcinoma (HCC) has been investigated in many peer-reviewed studies. However, scholars have failed to replicate these results in validation tests. The purpose of the present study was to explore whether the KIF1B rs17401966 polymorphism was associated with susceptibility to HCC. METHODS: The results of case-controlled studies on the correlation between the KIF1B rs17401966 polymorphism and HCC susceptibility were collected using Google Scholar and the EMBASE, PubMed and CNKI databases...
June 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28373146/increased-detection-of-genetic-loci-associated-with-risk-predictors-of-osteoporotic-fracture-using-a-pleiotropic-cfdr-method
#16
Jonathan Greenbaum, Kehao Wu, Lan Zhang, Hui Shen, Jigang Zhang, Hong-Wen Deng
Although GWAS have been successful in identifying some osteoporosis associated loci, the findings explain only a small fraction of the total genetic variance. In this study we use a recently developed novel pleiotropic conditional false discovery rate (cFDR) method to identify novel genetic loci associated with two risk traits for osteoporotic fracture (the clinical outcome and end result of osteoporosis), Height (HT) and Femoral Neck (FNK) BMD. The cFDR method allows us to improve the detection of associated variants by incorporating any potentially shared genetic mechanisms between the two associated traits...
June 2017: Bone
https://www.readbyqxmd.com/read/27986441/silent-genetic-alterations-identified-by-targeted-next-generation-sequencing-in-pheochromocytoma-paraganglioma-a-clinicopathological-correlations
#17
Suja Pillai, Vinod Gopalan, Chung Y Lo, Victor Liew, Robert A Smith, Alfred King Y Lam
AIMS: The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in a cohort of patients with sporadic phaeochromocytoma/paraganglioma. METHODS: Phaeochromocytoma/paragangliomas from 25 patients were analysed by targeted next-generation sequencing approach using an Ion Torrent PGM instrument. Primers for 15 target genes (NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, MEN1, KIF1Bβ, EPAS1, CDKN2 & PHD2) were designed using ion ampliseq designer...
February 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27932942/loss-of-fractalkine-signaling-exacerbates-axon-transport-dysfunction-in-a-chronic-model-of-glaucoma
#18
Kevin T Breen, Sarah R Anderson, Michael R Steele, David J Calkins, Alejandra Bosco, Monica L Vetter
Neurodegeneration in glaucoma results in decline and loss of retinal ganglion cells (RGCs), and is associated with activation of myeloid cells such as microglia and macrophages. The chemokine fractalkine (FKN or Cx3cl1) mediates communication from neurons to myeloid cells. Signaling through its receptor Cx3cr1 has been implicated in multiple neurodegenerative diseases, but the effects on neuronal pathology are variable. Since it is unknown how FKN-mediated crosstalk influences RGC degeneration in glaucoma, we assessed this in a chronic mouse model, DBA/2J...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27696585/loss-of-function-of-kif1b-impairs-oocyte-meiotic-maturation-and-early-embryonic-development-in-mice
#19
Xiang-Wei Kong, Dong-Hui Wang, Cheng-Jie Zhou, Hong-Xia Zhou, Cheng-Guang Liang
Kinesin family member 1B (KIF1B) is an important microtubule-dependent monomeric motor in mammals, although little is known about its role in meiosis. We profiled KIF1B expression and localization during oocyte maturation and early embryonic development in mice, revealing a dynamic pattern throughout meiotic progression. Depletion or inhibition of KIF1B leads to abnormal polar body extrusion, disordered spindle dynamics, defects in chromosome congression, increased aneuploidy, and impaired embryonic development...
November 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27358458/kif1b-interacts-with-kbp-to-promote-axon-elongation-by-localizing-a-microtubule-regulator-to-growth-cones
#20
Catherine M Drerup, Sarah Lusk, Alex Nechiporuk
UNLABELLED: Delivery of proteins and organelles to the growth cone during axon extension relies on anterograde transport by kinesin motors. Though critical for neural circuit development, the mechanisms of cargo-specific anterograde transport during axon extension are only starting to be explored. Cargos of particular importance for axon outgrowth are microtubule modifiers, such as SCG10 (Stathmin-2). SCG10 is expressed solely during axon extension, localized to growth cones, and essential for axon outgrowth; however, the mechanisms of SCG10 transport and activity were still debated...
June 29, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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