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https://www.readbyqxmd.com/read/28432122/dual-regulation-of-stat1-and-stat3-by-the-tumor-suppressor-protein-pml-contributes-to-ifn%C3%AE-mediated-inhibition-of-angiogenesis
#1
Kuo-Sheng Hsu, Xuan Zhao, Xiwen Cheng, Dongyin Guan, Ganapati H Mahabeleshwar, Yu Liu, Ernest Borden, Mukesh K Jain, Hung-Ying Kao
IFNs are effective in inhibiting angiogenesis in preclinical models and in treating several angio-proliferative disorders. However, the detailed mechanisms of IFNα-mediated anti-angiogenesis are not completely understood. Stat1/2/3 and PML are IFNα downstream effectors and are pivotal regulators of angiogenesis. Here, we investigated PML's role in the regulation of Stat1/2/3 activity. In Pml knockout (KO) mice, ablation of Pml largely reduces IFNα angiostatic ability in Matrixgel plug assays. This suggested an essential role for PML in IFNα's anti-angiogenic function...
April 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28431793/alcohol-effects-on-the-epigenome-in-the-germline-role-in-the-inheritance-of-alcohol-related-pathology
#2
REVIEW
Lucy G Chastain, Dipak K Sarkar
Excessive alcohol exposure has severe health consequences, and clinical and animal studies have demonstrated that disruptions in the epigenome of somatic cells, such as those in brain, are an important factor in the development of alcohol-related pathologies, such as alcohol-use disorders (AUDs) and fetal alcohol spectrum disorders (FASDs). It is also well known that alcohol-related health problems are passed down across generations in human populations, but the complete mechanisms for this phenomenon are currently unknown...
March 6, 2017: Alcohol
https://www.readbyqxmd.com/read/28430800/the-burden-of-trisomy-21-disrupts-the-proteostasis-network-in-down-syndrome
#3
Stefanos Aivazidis, Christina M Coughlan, Abhishek K Rauniyar, Hua Jiang, L Alexander Liggett, Kenneth N Maclean, James R Roede
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Our results confirm the presence of a disrupted PN in DS, as several of its elements, including the unfolded protein response, chaperone system, and proteasomal degradation exhibited significant alterations compared to euploid controls in both cell and mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28427457/integrative-modelling-of-tir-domain-containing-adaptor-molecule-inducing-interferon-%C3%AE-trif-provides-insights-into-its-autoinhibited-state
#4
Jarjapu Mahita, Ramanathan Sowdhamini
BACKGROUND: TRIF is a key protein in antiviral innate immunity, operating downstream of TLRs. TRIF activation leads to the production of interferon-β and pro-inflammatory cytokines. There is evidence from experiments to suggest that the N-terminal domain of TRIF binds to its TIR domain to avoid constitutive activation. However, no structure of a complex between the N-terminal domain and the TIR domain exists till date. The disordered nature of the region connecting the N-terminal domain and the TIR domain compounds the issue of elucidating the mechanism of autoinhibition of TRIF...
April 20, 2017: Biology Direct
https://www.readbyqxmd.com/read/28426364/patterns-of-mood-and-personality-factors-and-associations-with-sti-hiv-related-drug-and-sex-risk-among-african-american-male-inmates
#5
Joy D Scheidell, Carl W Lejuez, Carol E Golin, Adaora A Adimora, David A Wohl, Larry D Keen, Michael Hammond, Selena Judon-Monk, Maria R Khan
BACKGROUND: Research on the association between antisocial personality disorder (ASPD) with comorbid mental disorders and sexually transmitted infection (STI)/HIV risk among inmates is scant despite the high prevalence of psychopathology and of STI/HIV in this population. METHODS: We used baseline data from Project DISRUPT, a cohort study conducted among incarcerated African American men (n = 207), to measure associations between ASPD and STI/HIV risk. We also conducted latent class analyses (LCAs) to identify subgroups defined by ASPD with comorbid stress, depression, and borderline personality disorder symptoms and measured associations between latent class membership and STI/HIV risk...
June 7, 2017: Substance Use & Misuse
https://www.readbyqxmd.com/read/28425940/circadian-clock-cell-division-and-cancer-from-molecules-to-organism
#6
REVIEW
Anton Shostak
As a response to environmental changes driven by the Earth's axial rotation, most organisms evolved an internal biological timer-the so called circadian clock-which regulates physiology and behavior in a rhythmic fashion. Emerging evidence suggests an intimate interplay between the circadian clock and another fundamental rhythmic process, the cell cycle. However, the precise mechanisms of this connection are not fully understood. Disruption of circadian rhythms has a profound impact on cell division and cancer development and, vice versa, malignant transformation causes disturbances of the circadian clock...
April 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28425622/targeted-disruption-of-nf1-in-osteocyte-increases-fgf23-and-osteoid-with-osteomalacia-like-bone-phenotype
#7
Nobuhiro Kamiya, Ryosuke Yamaguchi, Olumide Aruwajoye, Audrey Kim, Gen Kuroyanagi, Matthew Phipps, Naga Suresh Adapala, Jian Q Feng, Harry K W Kim
Neurofibromatosis type 1 (NF1, OMIM 162200), caused by NF1 gene mutations, exhibits multi-system abnormalities including skeletal deformities in humans. Osteocytes play critical roles in controlling bone modeling and remodeling. However, the role of neurofibromin, the protein product of the NF1 gene, in osteocytes is largely unknown. This study investigated the role of neurofibromin in osteocytes by disrupting Nf1 under the Dmp1-promoter. The conditional knockout (Nf1 cKO) mice displayed serum profile of a metabolic bone disorder with an osteomalacia-like bone phenotype...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28424608/blood-transcriptomic-meta-analysis-identifies-dysregulation-of-hemoglobin-and-iron-metabolism-in-parkinson-disease
#8
Jose A Santiago, Judith A Potashkin
Disrupted iron metabolism has been implicated in the pathogenesis of Parkinson's disease (PD), a progressive neurodegenerative disorder that severely affects movement and coordination, yet the molecular mechanisms underlying this association remain unknown. To this end, we performed a transcriptomic meta-analysis of four blood microarrays in PD. We observed a significant downregulation of genes related to hemoglobin including, hemoglobin delta (HBD), alpha hemoglobin stabilizing protein (ASHP), genes implicated in iron metabolism including, solute carrier family 11 member 2 (SLC11A2), ferrochelatase (FECH), and erythrocyte-specific genes including erythrocyte membrane protein (EPB42), and 5'-aminolevulinate synthase 2 (ALAS2)...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28424571/metabolic-vulnerability-in-the-neurodegenerative-disease-glaucoma
#9
REVIEW
Denise M Inman, Mohammad Harun-Or-Rashid
Axons can be several orders of magnitude longer than neural somas, presenting logistical difficulties in cargo trafficking and structural maintenance. Keeping the axon compartment well supplied with energy also presents a considerable challenge; even seemingly subtle modifications of metabolism can result in functional deficits and degeneration. Axons require a great deal of energy, up to 70% of all energy used by a neuron, just to maintain the resting membrane potential. Axonal energy, in the form of ATP, is generated primarily through oxidative phosphorylation in the mitochondria...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28424564/new-developments-in-the-management-of-narcolepsy
#10
REVIEW
Vivien C Abad, Christian Guilleminault
Narcolepsy is a life-long, underrecognized sleep disorder that affects 0.02%-0.18% of the US and Western European populations. Genetic predisposition is suspected because of narcolepsy's strong association with HLA DQB1*06-02, and genome-wide association studies have identified polymorphisms in T-cell receptor loci. Narcolepsy pathophysiology is linked to loss of signaling by hypocretin-producing neurons; an autoimmune etiology possibly triggered by some environmental agent may precipitate hypocretin neuronal loss...
2017: Nature and Science of Sleep
https://www.readbyqxmd.com/read/28424384/minor-physical-anomalies-and-dermatoglyphic-signs-in-affective-disorders-a-systematic-review
#11
Hajnalka Berecz, Györgyi Csábi, Róbert Herold, Daniel Trixler, Judit Fekete, Tamás Tényi
The increased prevalence of minor physical anomalies (MPAs) and the abnormalities of dermatoglyphic patterns may be physical manifestations of neurodevelopmental disruption in affective disorders. This paper aims to review the current state of knowledge on the frequency of MPAs and dermatoglyphic abnormalities in mood disorders. A MEDLINE, PsychInfo and Web of Science search was carried out to collect all publications on the frequency of MPAs and on dermatoglyphic traits in bipolar disorder and unipolar depression...
2017: Psychiatria Hungarica: A Magyar Pszichiátriai Társaság Tudományos Folyóirata
https://www.readbyqxmd.com/read/28424332/improving-genetic-diagnosis-in-mendelian-disease-with-transcriptome-sequencing
#12
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bönnemann, Daniel G MacArthur
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We explore the utility of transcriptome sequencing [RNA sequencing (RNA-seq)] as a complementary diagnostic tool in a cohort of 50 patients with genetically undiagnosed rare muscle disorders. We describe an integrated approach to analyze patient muscle RNA-seq, leveraging an analysis framework focused on the detection of transcript-level changes that are unique to the patient compared to more than 180 control skeletal muscle samples...
April 19, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28424266/disease-associated-extracellular-loop-mutations-in-the-adhesion-g-protein-coupled-receptor-g1-adgrg1-gpr56-differentially-regulate-downstream-signaling
#13
Ayush Kishore, Randy A Hall
Mutations to the adhesion G protein-coupled receptor ADGRG1 (G1; also known as GPR56) underlie the neurological disorder bilateral frontoparietal polymicrogyria (BFPP). Disease-associated mutations in G1 studied to date are believed to induce complete loss of receptor function, either through disruption of receptor trafficking or signaling activity. Given that N-terminal truncation of G1 and other adhesion G protein-coupled receptors has been shown to significantly increase the receptors' constitutive signaling, we examined two different BFPP-inducing extracellular loop mutations (R565W and L640R) in the context of both full-length and N-terminally truncated (deltaNT) G1...
April 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28422371/effects-of-m1-and-m4-activation-on-excitatory-synaptic-transmission-in-ca1
#14
Catherine Thorn, Michael Popiolek, Eda Stark, Jeremy Edgerton
Hippocampal networks are particularly susceptible to dysfunction in many neurodegenerative diseases and neuropsychiatric disorders including Alzheimer's disease, Lewy body dementia, and schizophrenia. CA1, a major output region of the hippocampus, receives glutamatergic input from both hippocampal CA3 and entorhinal cortex, via the Schaffer collateral (SC) and temporoammonic (TA) pathways, respectively. SC and TA inputs to CA1 are thought to be differentially involved in the retrieval of previously stored memories versus the encoding of novel information, and switching between these two crucial hippocampal functions is thought to critically depend on acetylcholine (ACh) acting at muscarinic receptors...
April 19, 2017: Hippocampus
https://www.readbyqxmd.com/read/28421930/a-difficult-transition
#15
Sarah J Taylor
More than 700,000 people in the UK are living with an eating disorder. They can experience physical complications, poor quality of life, disrupted relationships, emotional distress, social isolation and economic disadvantage. The risk of early death is one of the highest among patients with psychiatric disorders.
April 19, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28421266/reactive-oxygen-species-mediated-t-lymphocyte-abnormalities-in-an-iron-overloaded-mouse-model-and-iron-overloaded-patients-with-myelodysplastic-syndromes
#16
Jie Chen, Wen-Yi Lu, Ming-Feng Zhao, Xiao-Li Cao, Yan-Yu Jiang, Xin Jin, Ping Xu, Ting-Ting Yuan, Yu-Chen Zhang, Xiao Chai, Juan-Xia Meng, Qing Li, Xia Xiao, Juan Mu, De-Guan Li, Ai-Ping Qi
The adverse effects of iron overload have raised more concerns as a growing number of studies reported its association with immune disorders. This study aimed to investigate alterations in the immune system by iron overload in patients with myelodysplastic syndrome (MDS) and an iron-overloaded mouse model. The peripheral blood from patients was harvested to test the effect of iron overload on the subsets of T lymphocytes, and the level of reactive oxygen species (ROS) was also evaluated. The data showed that iron-overloaded patients had a lower percentage of CD3(+) T cells and disrupted T cell subsets, concomitant with higher ROS level in lymphocytes...
April 18, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28420454/genetic-and-environmental-influences-on-the-codevelopment-among-borderline-personality-disorder-traits-major-depression-symptoms-and-substance-use-disorder-symptoms-from-adolescence-to-young-adulthood
#17
Marina A Bornovalova, Brad Verhulst, Troy Webber, Matt McGue, William G Iacono, Brian M Hicks
Although borderline personality disorder (BPD) traits decline from adolescence to adulthood, comorbid psychopathology such as symptoms of major depressive disorder (MDD), alcohol use disorder (AUD), and drug use disorders (DUDs) likely disrupt this normative decline. Using a longitudinal sample of female twins (N = 1,763), we examined if levels of BPD traits were correlated with changes in MDD, AUD, and DUD symptoms from ages 14 to 24. A parallel process biometric latent growth model examined the contributions of genetic and environmental factors to the relationships between developmental components of these phenotypes...
April 19, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28419777/micrornas-as-biomarkers-for-psychiatric-disorders-with-a-focus-on-autism-spectrum-disorder-current-progress-in-genetic-association-studies-expression-profiling-and-translational-research
#18
REVIEW
Yubin Hu, Erik A Ehli, Dorret I Boomsma
MicroRNAs (miRNAs) are a group of small noncoding RNA molecules, 18-25 nucleotides in length, which can negatively regulate gene expression at the post-transcriptional level by binding to messenger RNAs. About half of all identified miRNAs in humans are expressed in the brain and display regulatory functions important for many biological processes related to the development of the central nervous system (CNS). Disruptions in miRNA biogenesis and miRNA-target interaction have been related to CNS diseases, including psychiatric disorders...
April 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28419454/the-de-novo-autism-spectrum-disorder-reln-r2290c-mutation-reduces-reelin-secretion-and-increases-protein-disulfide-isomerase-expression
#19
Dawn B Lammert, Frank A Middleton, Jen Pan, Eric C Olson, Brian W Howell
Despite the recent identification of over 40 missense heterozygous RELN mutations in ASD, none of these has been functionally characterized. Reelin is an integral signaling ligand for proper brain development and postnatal synapse function - properties likely disrupted in ASD patients. We find that the R2290C mutation, which arose de novo in an affected ASD proband, and other analogous mutations in RXR domains reduce protein secretion. Closer analysis of RELN R2290C heterozygous neurospheres reveals upregulation of Protein Disulfide Isomerase A1, best known as an ER-chaperone protein, which has been linked to neuronal pathology...
April 17, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28419241/central-hypothyroidism-due-to-a-trhr-mutation-causing-impaired-ligand-affinity-and-transactivation-of-gq
#20
Marta García, Jesús González de Buitrago, Mireia Jiménez-Rosés, Leonardo Pardo, Patricia M Hinkle, José C Moreno
Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of TSH leading to low thyroid hormone synthesis. TRH receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms...
April 17, 2017: Journal of Clinical Endocrinology and Metabolism
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