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https://www.readbyqxmd.com/read/29351627/repair-kinetics-of-dna-double-strand-breaks-and-incidence-of-apoptosis-in-mouse-neural-stem-progenitor-cells-and-their-differentiated-neurons-exposed-to-ionizing-radiation
#1
Hiroki Kashiwagi, Kazunori Shiraishi, Kenta Sakaguchi, Tomoya Nakahama, Seiji Kodama
Neuronal loss leads to neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and Huntington's disease. Because of their long lifespans, neurons are assumed to possess highly efficient DNA repair ability and to be able to protect themselves from deleterious DNA damage such as DNA double-strand breaks (DSBs) produced by intrinsic and extrinsic sources. However, it remains largely unknown whether the DSB repair ability of neurons is more efficient compared with that of other cells. Here, we investigated the repair kinetics of X-ray-induced DSBs in mouse neural cells by scoring the number of phosphorylated 53BP1 foci post irradiation...
January 17, 2018: Journal of Radiation Research
https://www.readbyqxmd.com/read/29351413/mitochondrial-content-is-preserved-throughout-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-regardless-of-taurine-supplementation
#2
Robert G Barker, Victoria L Wyckelsma, Hongyang Xu, Robyn M Murphy
Mitochondrial dysfunction is a pathological feature of Duchenne muscular Dystrophy (DMD), a debilitating and fatal neuromuscular disorder characterised by progressive muscle wasting and weakness. Mitochondria are a source of cellular ATP and involved in Ca2+ regulation and apoptotic signalling. Ameliorating aberrant mitochondrial function has therapeutic potential for reducing DMD disease severity. The dystrophic mdx mouse exhibits peak muscle damage at 21-28d which stabilises after 8 weeks. The amino acid taurine is implicated in mitochondrial health and function, with endogenous concentrations low when measured during the cycle of peak muscle damage in mdx mice...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351212/changes-in-the-expression-of-aqp4-and-aqp9-in-the-hippocampus-following-eclampsia-like-seizure
#3
Xinjia Han, Qian Huang, Lei Liu, Xiaoyan Sha, Bihui Hu, Huishu Liu
Eclampsia is a hypertensive disorder of pregnancy that is defined by the new onset of grand mal seizures on the basis of pre-eclampsia. Until now, the mechanisms underlying eclampsia were poorly understood. Brain edema is considered a leading cause of eclamptic seizures; aquaporins (AQP4 and AQP9), the glial water channel proteins mainly expressed in the nervous system, play an important role in brain edema. We studied AQP4 and AQP9 expression in the hippocampus of pre-eclamptic and eclamptic rats in order to explore the molecular mechanisms involved in brain edema...
January 19, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29351094/clinical-and-molecular-characterization-of-nine-chinese-patients-affected-by-hypofibrinogenemia-or-dysfibrinogenemia
#4
Yingyu Wang, Wenbai Chen, Ping Ma, Liqing Zhu, Mingshan Wang
: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Three fibrinogen genes were amplified by PCR and screened for variants. The identified variants were analyzed by bioinformatics prediction and molecular modeling analysis...
January 17, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29350995/a-review-of-analytical-methods-for-the-determination-of-clopidogrel-in-pharmaceuticals-and-biological-matrices
#5
Kavitha J, K S Kokilambigai, R Seetharaman, Harini R R, A A Kaaviya, Sowndaravel P, Lakshmi K S
P2Y12 belongs to a group of G protein - coupled (GPCR) purinergic receptors and is a receptor for adenosine diphosphate (ADP). The P2Y12 receptor is involved in platelet aggregation and acts as a biological target for treating thromboembolisms and other clotting disorders. The use of Clopidogrel (CLO) has improved the morbidity and mortality endpoints including cardiovascular death, recurrent myocardial infarction (MI) and stroke at 30 days after percutaneous coronary intervention (PCI). CLO is one such drug that specifically and irreversibly inhibits the P2Y12 subtype of ADP receptor...
January 19, 2018: Critical Reviews in Analytical Chemistry
https://www.readbyqxmd.com/read/29350911/a-programmable-dna-origami-platform-for-organizing-intrinsically-disordered-nucleoporins-within-nanopore-confinement
#6
Patrick D Ellis Fisher, Qi Shen, Bernice Akpinar, Luke K Davis, Kenny Kwok Hin Chung, David Baddeley, Andela Saric, Thomas J Melia, Bart W Hoogenboom, Chenxiang Lin, C Patrick Lusk
Nuclear pore complexes (NPCs) form gateways that control molecular exchange between the nucleus and the cytoplasm. They impose a diffusion barrier to macromolecules and enable the selective transport of nuclear transport receptors with bound cargo. The underlying mechanisms that establish these permeability properties remain to be fully elucidated, but require unstructured nuclear pore proteins rich in Phe-Gly (FG)-repeat domains of different types, such as FxFG and GLFG. While physical modeling and in vitro approaches have provided a framework for explaining how the FG network contributes to the barrier and transport properties of the NPC, it remains unknown whether the number and/or the spatial positioning of different FG-domains along a cylindrical, ~40 nm diameter transport channel contributes to their collective properties and function...
January 19, 2018: ACS Nano
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#7
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29349807/possible-role-of-plasmacytoid-dendritic-cells-in-pityriasis-lichenoides
#8
M Karouni, J Abou Rahal, M Kurban, A G Kibbi, O Abbas
BACKGROUND: Plasmacytoid dendritic cells (pDCs) and their product, type I interferons (IFNs), have been implicated in the pathogenesis of several skin disorders characterized by an interface dermatitis (ID) pattern, such as lichen planus (LP). A type I IFN signature has previously been documented in pityriasis lichenoides (PL). Although pDCs are known to be the main source and most potent producers of local type I IFNs, their role in PL has not been investigated. AIM: To investigate the role of pDCs in PL...
January 19, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29349677/mercuric-chloride-induced-ovarian-oxidative-stress-by-suppressing-nrf2-keap1-signal-pathway-and-its-downstream-genes-in-laying-hens
#9
Yan Ma, Mingkun Zhu, Liping Miao, Xiaoyun Zhang, Xinyang Dong, Xiaoting Zou
The present study evaluated the effects of mercury chloride (HgCl2) on follicular atresia rate, sex hormone secretion, and ovarian oxidative stress in laying hens. Antioxidant enzyme genes and the nuclear factor erythroid 2-related factor 2 (Nrf2)-Kelch-like ECH-associated protein 1 (Keap1) signal pathway were further studied to uncover the molecular mechanism. A total of 768 40-week-old Hy-Line Brown laying hens were randomly allocated to four treatments with eight pens per treatment and 24 hens of each pen...
January 18, 2018: Biological Trace Element Research
https://www.readbyqxmd.com/read/29349556/neuropathology-correlates-of-cognitive-assessments
#10
Francesca M Brett, Hugh Kearney
BACKGROUND: Alzheimer's disease and other dementias are the fourth largest contributors to neurological disability and the second largest contributor to deaths from neurological disease. Described in the 1980s as 'the silent epidemic' these disorders principally, though not exclusively, affect persons 80 years or older, and in developed countries, this 'old old' population continues to grow. Definitive diagnosis of the underlying cause of the neurodegenerative disease relies on neuropathological evaluation...
January 18, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29349439/protein-c-deficiency-resulting-from-two-mutations-in-proc-presenting-with-recurrent-venous-thromboembolism
#11
Weijia Xie, Zhenjie Liu, Bing Chen
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29348617/neuronal-lysosomal-dysfunction-releases-exosomes-harboring-app-c-terminal-fragments-and-unique-lipid-signatures
#12
André M Miranda, Zofia M Lasiecka, Yimeng Xu, Jessi Neufeld, Sanjid Shahriar, Sabrina Simoes, Robin B Chan, Tiago Gil Oliveira, Scott A Small, Gilbert Di Paolo
Defects in endolysosomal and autophagic functions are increasingly viewed as key pathological features of neurodegenerative disorders. A master regulator of these functions is phosphatidylinositol-3-phosphate (PI3P), a phospholipid synthesized primarily by class III PI 3-kinase Vps34. Here we report that disruption of neuronal Vps34 function in vitro and in vivo impairs autophagy, lysosomal degradation as well as lipid metabolism, causing endolysosomal membrane damage. PI3P deficiency also promotes secretion of unique exosomes enriched for undigested lysosomal substrates, including amyloid precursor protein C-terminal fragments (APP-CTFs), specific sphingolipids, and the phospholipid bis(monoacylglycero)phosphate (BMP), which normally resides in the internal vesicles of endolysosomes...
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29348607/evaluation-of-mitochondrial-bioenergetics-dynamics-endoplasmic-reticulum-mitochondria-crosstalk-and-reactive-oxygen-species-in-fibroblasts-from-patients-with-complex-i-deficiency
#13
Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Vera Y Roginskaya, Desiree M Markantone, Mateus Grings, Stephanie J Mihalik, Peter Wipf, Bennett Van Houten, Jerry Vockley
Mitochondrial complex I (CI) deficiency is the most frequent cause of oxidative phosphorylation (OXPHOS) disorders in humans. In order to benchmark the effects of CI deficiency on mitochondrial bioenergetics and dynamics, respiratory chain (RC) and endoplasmic reticulum (ER)-mitochondria communication, and superoxide production, fibroblasts from patients with mutations in the ND6, NDUFV1 or ACAD9 genes were analyzed. Fatty acid metabolism, basal and maximal respiration, mitochondrial membrane potential, and ATP levels were decreased...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348408/nipbl-haploinsufficiency-reveals-a-constellation-of-transcriptome-disruptions-in-the-pluripotent-and-cardiac-states
#14
Jason A Mills, Pamela S Herrera, Maninder Kaur, Lanfranco Leo, Deborah McEldrew, Jesus A Tintos-Hernandez, Ramakrishnan Rajagopalan, Alyssa Gagne, Zhe Zhang, Xilma R Ortiz-Gonzalez, Ian D Krantz
Cornelia de Lange syndrome (CdLS) is a complex disorder with multiple structural and developmental defects caused by mutations in structural and regulatory proteins involved in the cohesin complex. NIPBL, a cohesin regulatory protein, has been identified as a critical protein responsible for the orchestration of transcriptomic regulatory networks necessary for embryonic development. Mutations in NIPBL are responsible for the majority of cases of CdLS. Through RNA-sequencing of human induced pluripotent stem cells and in vitro-derived cardiomyocytes, we identified hundreds of mRNAs, pseudogenes, and non-coding RNAs with altered expression in NIPBL+/- patient-derived cells...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348375/-suspected-non-alzheimer-s-disease-pathophysiology-snap-and-its-pathological-backgrounds-in-the-diagnosis-of-preclinical-and-clinical-alzheimer-s-disease
#15
Masahito Yamada
Suspected non-Alzheimer's disease pathophysiology (SNAP) is a biomarker-based condition that is found in individuals with normal levels of amyloid-β protein (Aβ) markers (A-) and abnormal levels of markers of neurodegeneration or neuronal injury (N+). SNAP is found in 20-26% of cognitively normal (CN) individuals aged 65 years or older and 17-35% of individuals with mild cognitive impairment (MCI). Similarly, 7-39% of patients with clinically probable Alzheimer's disease (AD) dementia are negative for Aβ...
January 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29348174/oligomer-formation-and-g-quadruplex-binding-by-purified-murine-rif1-protein-a-key-organizer-of-higher-order-chromatin-architecture
#16
Kenji Moriyama, Naoko Yoshizawa-Sugata, Hisao Masai
Rap1-interacting protein 1(Rif1) regulates telomere length in budding yeast. We previously reported that, in metazoans and fission yeast, Rif1 also plays pivotal roles in controlling genome-wide DNA replication timing. We proposed that Rif1 may assemble chromatin compartments that contain specific replication-timing domains by promoting chromatin loop formation. Rif1 also is involved in DNA lesion repair, restart after replication fork collapse, anti-apoptosis activities, replicative senescence, and transcriptional regulation...
January 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29348134/cerebral-mitochondrial-microangiopathy-leads-to-leukoencephalopathy-in-mitochondrial-neurogastrointestinal-encephalopathy
#17
L L Gramegna, A Pisano, C Testa, D N Manners, R D'Angelo, E Boschetti, F Giancola, L Pironi, L Caporali, M Capristo, M L Valentino, G Plazzi, C Casali, M T Dotti, G Cenacchi, M Hirano, C Giordano, P Parchi, R Rinaldi, R De Giorgio, R Lodi, V Carelli, C Tonon
BACKGROUND AND PURPOSE: Mitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the thymidine phosphorylase gene, encoding thymidine phosphorylase protein required for mitochondrial DNA replication. Clinical manifestations include gastrointestinal dysmotility and diffuse asymptomatic leukoencephalopathy. This study aimed to elucidate the mechanisms underlying brain leukoencephalopathy in patients with mitochondrial neurogastrointestinal encephalopathy by correlating multimodal neuroradiologic features to postmortem pathology...
January 18, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29348038/children-with-fragile-x-syndrome-display-threat-specific-biases-toward-emotion
#18
Jessica L Burris, Ryan A Barry-Anwar, Riley N Sims, Randi J Hagerman, Flora Tassone, Susan M Rivera
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is caused by a silencing of the FMR1 gene that results in a loss or absence of the gene's protein product, fragile X mental retardation protein. The phenotype of FXS is consistently associated with heightened anxiety, although no previous study has investigated attentional bias toward threat, a hallmark of anxiety disorders, in individuals with FXS. METHODS: The current study employed a passive-viewing eye-tracking version of the dot probe task to investigate attentional biases toward emotional faces in young children with FXS (n = 47) and without FXS (n = 94)...
September 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29347990/establishment-of-an-in-vitro-chicken-epithelial-cell-line-model-to-investigate-eimeria-tenella-gamete-development
#19
Françoise I Bussière, Alisson Niepceron, Alix Sausset, Evelyne Esnault, Anne Silvestre, Robert A Walker, Nicholas C Smith, Pascale Quéré, Fabrice Laurent
BACKGROUND: Eimeria tenella infection leads to acute intestinal disorders responsible for important economic losses in poultry farming worldwide. The life-cycle of E. tenella is monoxenous with the chicken as the exclusive host; infection occurs in caecal epithelial cells. However, in vitro, the complete life-cycle of the parasite has only been propagated successfully in primary chicken kidney cells, which comprise undefined mixed cell populations; no cell line model has been able to consistently support the development of the sexual stages of the parasite...
January 18, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/29347989/bal%C3%A3-s-concentric-sclerosis-is-immunologically-distinct-from-multiple-sclerosis-results-from-retrospective-analysis-of-almost-150-lumbar-punctures
#20
S Jarius, C Würthwein, J R Behrens, J Wanner, J Haas, F Paul, B Wildemann
BACKGROUND: Baló's concentric sclerosis (BCS) is a rare inflammatory demyelinating disorder of the central nervous system characterised by concentric layers of demyelination. It is unclear whether BCS is a variant of multiple sclerosis (MS) or a disease entity in its own right. OBJECTIVE: To compare the cerebrospinal fluid (CSF) features of BCS to those of MS. METHODS: Retrospective analysis of the CSF profile of all patients with BCS reported in the medical literature between 1980 and 2017...
January 18, 2018: Journal of Neuroinflammation
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