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https://www.readbyqxmd.com/read/29020921/identify-huntington-s-disease-associated-genes-based-on-restricted-boltzmann-machine-with-rna-seq-data
#1
Xue Jiang, Han Zhang, Feng Duan, Xiongwen Quan
BACKGROUND: Predicting disease-associated genes is helpful for understanding the molecular mechanisms during the disease progression. Since the pathological mechanisms of neurodegenerative diseases are very complex, traditional statistic-based methods are not suitable for identifying key genes related to the disease development. Recent studies have shown that the computational models with deep structure can learn automatically the features of biological data, which is useful for exploring the characteristics of gene expression during the disease progression...
October 11, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28937758/monomeric-huntingtin-exon-1-has-similar-overall-structural-features-for-wild-type-and-pathological-polyglutamine-lengths
#2
John B Warner, Kiersten M Ruff, Piau Siong Tan, Edward A Lemke, Rohit V Pappu, Hilal A Lashuel
Huntington's disease is caused by expansion of a polyglutamine (polyQ) domain within exon 1 of the huntingtin gene (Httex1). The prevailing hypothesis is that the monomeric Httex1 protein undergoes sharp conformational changes as the polyQ length exceeds a threshold of 36-37 residues. Here, we test this hypothesis by combining novel semi-synthesis strategies with state-of-the-art single-molecule Förster resonance energy transfer measurements on biologically relevant, monomeric Httex1 proteins of five different polyQ lengths...
October 18, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28862431/the-medicinal-chemistry-of-natural-and-semisynthetic-compounds-against-parkinson-s-and-huntington-s-diseases
#3
Enrico Zanforlin, Giuseppe Zagotto, Giovanni Ribaudo
Among the diseases affecting the central nervous system (CNS), neurodegenerations attract the interest of both the clinician and the medicinal chemist. The increasing average age of population, the growing number of patients, and the lack of long-term effective remedies push ahead the quest for novel tools against this class of pathologies. We present a review on the state of the art of the molecules (or combination of molecules) of natural origin that are currently under study against two well-defined pathologies: Parkinson's disease (PD) and Huntington's disease (HD)...
September 15, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28520598/imaging-plus-x-multimodal-models-of-neurodegenerative-disease
#4
Neil P Oxtoby, Daniel C Alexander
PURPOSE OF REVIEW: This article argues that the time is approaching for data-driven disease modelling to take centre stage in the study and management of neurodegenerative disease. The snowstorm of data now available to the clinician defies qualitative evaluation; the heterogeneity of data types complicates integration through traditional statistical methods; and the large datasets becoming available remain far from the big-data sizes necessary for fully data-driven machine-learning approaches...
August 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28412918/neurological-aspects-of-medical-use-of-cannabidiol
#5
Carmen Mannucci, Michele Navarra, Fabrizio Calapai, Elvira Ventura Spagnolo, Francesco Paolo Busardò, Roberto Da Cas, Francesca Menniti Ippolito, Gioacchino Calapai
BACKGROUND: Cannabidiol (CBD) is among the major secondary metabolites of Cannabis devoid of the delta-9-tetra-hydrocannabinol psychoactive effects. It is a resorcinol-based compound with a broad spectrum of potential therapeutic properties, including neuroprotective effects in numerous pathological conditions. CBD neuroprotection is due to its antioxidant and antiinflammatory activi-ties and the modulation of a large number of brain biological targets (receptors, channels) involved in the development and maintenance of neurodegenerative diseases...
April 13, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28223129/regenerative-medicine-in-huntington-s-disease-strengths-and-weaknesses-of-preclinical-studies
#6
REVIEW
A M Tartaglione, P Popoli, G Calamandrei
Huntington's disease (HD) is an inherited neurodegenerative disorder, characterized by impairment in motor, cognitive and psychiatric domains. Currently, there is no specific therapy to act on the onset or progression of HD. The marked neuronal death observed in HD is a main argument in favour of stem cells (SCs) transplantation as a promising therapeutic perspective to replace the population of lost neurons and restore the functionality of the damaged circuitry. The availability of rodent models of HD encourages the investigation of the restorative potential of SCs transplantation longitudinally...
June 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/27464072/pharmacogenetics-in-neurodegenerative-diseases-implications-for-clinical-trials
#7
REVIEW
Rosanna Tortelli, Davide Seripa, Francesco Panza, Vincenzo Solfrizzi, Giancarlo Logroscino
BACKGROUND: Pharmacogenetics has become extremely important over the last 20 years for identifying individuals more likely to be responsive to pharmacological interventions. The role of genetic background as a predictor of drug response is a young and mostly unexplored field in neurodegenerative diseases. SUMMARY: Mendelian mutations in neurodegenerative diseases have been used as models for early diagnosis and intervention. On the other hand, genetic polymorphisms or risk factors for late-onset Alzheimer's disease (AD) or other neurodegenerative diseases, probably influencing drug response, are hardly taken into account in randomized clinical trial (RCT) design...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27397479/pharmacomodulation-of-microrna-expression-in-neurocognitive-diseases-obstacles-and-future-opportunities
#8
REVIEW
Viorel Simion, Wissem Deraredj Nadim, Helene Benedetti, Chantal Pichon, Severine Morisset-Lopez, Patrick Baril
Given the importance of microRNAs (miRNAs) in modulating brain functions and their implications in neurocognitive disorders there are currently significant efforts devoted in the field of miRNA-based therapeutics to correct and/or to treat these brain diseases. The observation that miRNA 29a/b-1 cluster, miRNA 10b and miRNA 7, for instance, are frequently deregulated in the brains of patients with neurocognitive diseases and in animal models of Alzheimer, Huntington's and Parkinson's diseases, suggest that correction of miRNA expression using agonist or antagonist miRNA oligonucleotides might be a promising approach to correct or even to cure such diseases...
2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/27346026/derivation-of-huntington-disease-affected-genea090-human-embryonic-stem-cell-line
#9
Biljana Dumevska, Julia Schaft, Robert McKernan, Jesselyn Hu, Uli Schmidt
The Genea090 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 45 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female allele pattern. The hESC line had pluripotent cell morphology, 91% of cells expressed Nanog, 95% Oct4, 90% Tra1-60 and 100% SSEA4 and gave a pluritest pluripotency score of 30.91, novelty of 1...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27346022/derivation-of-huntington-disease-affected-genea017-human-embryonic-stem-cell-line
#10
Biljana Dumevska, Robert McKernan, Divya Goel, Uli Schmidt, Teija Peura
The Genea017 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 40 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, genetic analysis confirmed a 46, XY karyotype and male allele pattern through CGH and STR analysis. The hESC line had pluripotent cell morphology, 87% of cells expressed Nanog, 95% Oct4, 88% Tra1-60 and 99% SSEA4, gave a PluriTest pluripotency score of 34.74, novelty of 1...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27346013/derivation-of-huntington-disease-affected-genea091-human-embryonic-stem-cell-line
#11
Biljana Dumevska, Julia Schaft, Robert McKernan, Jesselyn Hu, Uli Schmidt
The Genea091 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 40 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 92% of cells expressed Nanog, 97% Oct4, 79% Tra1-60 and 98% SSEA4 and gave a Pluritest pluripotency score of 38.36, Novelty of 1...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27346012/derivation-of-huntington-disease-affected-genea046-human-embryonic-stem-cell-line
#12
Biljana Dumevska, Omar Chami, Robert McKernan, Divya Goel, Uli Schmidt
The Genea046 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying HTT gene CAG expansion of 45 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 85% of cells expressed Nanog, 92% Oct4, 75% Tra1-60 and 99% SSEA4 and demonstrated Alkaline Phosphatase activity. The cell line was negative for Mycoplasma and visible contamination...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27346008/derivation-of-huntington-disease-affected-genea089-human-embryonic-stem-cell-line
#13
Biljana Dumevska, Robert McKernan, Jesselyn Hu, Uli Schmidt
The Genea089 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 41 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 91% of cells expressed Nanog, 95% Oct4, 90% Tra1-60 and 100% SSEA4 and gave a PluriTest Pluripotency score of 39.28, Novelty of 1...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27346007/derivation-of-huntington-disease-affected-genea020-human-embryonic-stem-cell-line
#14
Biljana Dumevska, Teija Peura, Robert McKernan, Divya Goel, Uli Schmidt
The Genea020 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 48 repeats, indicative of Huntington disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female allele pattern. The hESC line had pluripotent cell morphology, 89% of cells expressed Nanog, 95% Oct4, 29% Tra1-60 and 99% SSEA4, gave a Pluritest pluripotency score of 27.51, novelty of 1...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27346005/derivation-of-huntington-disease-affected-genea018-human-embryonic-stem-cell-line
#15
Biljana Dumevska, Heather Main, Robert McKernan, Divya Goel, Uli Schmidt, Teija Peura
The Genea018 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 46 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 75% of cells expressed Nanog, 91% Oct4, 73% Tra1-60 and 96% SSEA4, gave a Pluritest pluripotency score of 31.12, Novelty of 1...
March 2016: Stem Cell Research
https://www.readbyqxmd.com/read/26544700/the-risk-of-viral-rebound-in-the-year-after-delivery-in-women-remaining-on-antiretroviral-therapy
#16
Susie Huntington, Claire Thorne, Marie-Louise Newell, Jane Anderson, Graham P Taylor, Deenan Pillay, Teresa Hill, Pat A Tookey, Caroline Sabin
OBJECTIVE: The objective of this study is to assess the risk of viral rebound in postpartum women on suppressive combination antiretroviral therapy (cART). METHODS: Using data from the UK Collaborative HIV Cohort (UK CHIC) study and the UK and Ireland National Study of HIV in Pregnancy and Childhood (NSHPC), women with HIV-RNA 50 copies/ml or less at delivery in 2006-2011, who started life-long cART during pregnancy (n = 321) or conceived on cART (n = 618), were matched by age, duration on cART and time period, with at least one control (non-postpartum)...
November 2015: AIDS
https://www.readbyqxmd.com/read/25710412/pregnancy-is-associated-with-elevation-of-liver-enzymes-in-hiv-positive-women-on-antiretroviral-therapy
#17
Susie Huntington, Claire Thorne, Marie-Louise Newell, Jane Anderson, Graham P Taylor, Deenan Pillay, Teresa Hill, Pat A Tookey, Caroline Sabin
OBJECTIVE: The objective of this study is to assess whether pregnancy is associated with an increased risk of liver enzyme elevation (LEE) and severe LEE in HIV-positive women on antiretroviral therapy (ART). DESIGN: Two observational studies: the UK Collaborative HIV Cohort (UK CHIC) study and the UK and Ireland National Study of HIV in Pregnancy and Childhood (NSHPC). METHODS: Combined data from UK CHIC and NSHPC were used to identify factors associated with LEE (grade 1-4) and severe LEE (grade 3-4)...
April 24, 2015: AIDS
https://www.readbyqxmd.com/read/25684727/toward-sophisticated-basal-ganglia-neuromodulation-review-on-basal-ganglia-deep-brain-stimulation
#18
REVIEW
Claudio Da Cunha, Suelen L Boschen, Alexander Gómez-A, Erika K Ross, William S J Gibson, Hoon-Ki Min, Kendall H Lee, Charles D Blaha
This review presents state-of-the-art knowledge about the roles of the basal ganglia (BG) in action-selection, cognition, and motivation, and how this knowledge has been used to improve deep brain stimulation (DBS) treatment of neurological and psychiatric disorders. Such pathological conditions include Parkinson's disease, Huntington's disease, Tourette syndrome, depression, and obsessive-compulsive disorder. The first section presents evidence supporting current hypotheses of how the cortico-BG circuitry works to select motor and emotional actions, and how defects in this circuitry can cause symptoms of the BG diseases...
November 2015: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/25393995/does-pregnancy-increase-the-risk-of-art-induced-hepatotoxicity-among-hiv-positive-women
#19
Susie Huntington, Claire Thorne, Jane Anderson, Marie-Louise Newell, Graham Taylor, Deenan Pillay, Teresa Hill, Pat Tookey, Caroline Sabin
INTRODUCTION: High rates of hepatotoxicity have been observed among HIV-positive pregnant women using antiretroviral therapy (ART). However, the extent to which pregnancy affects the risk of ART-induced hepatotoxicity is unclear since studies in this area have generated conflicting results. MATERIAL AND METHODS: Combined data from the UK Collaborative HIV Cohort (UK CHIC) study and the UK and Ireland National Study of HIV in Pregnancy and Childhood (NSHPC) were used...
2014: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/25319671/invited-review-decoding-the-pathophysiological-mechanisms-that-underlie-rna-dysregulation-in-neurodegenerative-disorders-a-review-of-the-current-state-of-the-art
#20
REVIEW
Matthew J Walsh, Johnathan Cooper-Knock, Jennifer E Dodd, Matthew J Stopford, Simeon R Mihaylov, Janine Kirby, Pamela J Shaw, Guillaume M Hautbergue
Altered RNA metabolism is a key pathophysiological component causing several neurodegenerative diseases. Genetic mutations causing neurodegeneration occur in coding and noncoding regions of seemingly unrelated genes whose products do not always contribute to the gene expression process. Several pathogenic mechanisms may coexist within a single neuronal cell, including RNA/protein toxic gain-of-function and/or protein loss-of-function. Genetic mutations that cause neurodegenerative disorders disrupt healthy gene expression at diverse levels, from chromatin remodelling, transcription, splicing, through to axonal transport and repeat-associated non-ATG (RAN) translation...
February 2015: Neuropathology and Applied Neurobiology
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