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https://www.readbyqxmd.com/read/29161709/impact-of-local-and-systemic-factors-on-kidney-dysfunction-in-bardet-biedl-syndrome
#1
Miriam Zacchia, Giovanna Capolongo, Francesco Trepiccione, Vincent Marion
Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism underlying its dysfunction remains largely unknown, and to date only symptomatic treatment with no specific therapy is available for these patients. Elucidating aberrant cellular and/or systemic processes that impact kidney function is therefore a prerequisite to develop targeted innovative therapeutic strategies for the BBS patients...
November 21, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29161034/dynamic-glycosylation-governs-the-vertebrate-copii-protein-trafficking-pathway
#2
Nathan J Cox, Gokhan Unlu, Brittany J Bisnett, Thomas R Meister, Brett Condon, Peter M Luo, Tim J Smith, Michael Hanna, Abhishek Chhetri, Erik J Soderblom, Anjon Audhya, Ela W Knapik, Michael Boyce
The COPII coat complex, which mediates secretory cargo trafficking from the endoplasmic reticulum, is a key control point for subcellular protein targeting. Because misdirected proteins cannot function, protein sorting by COPII is critical for establishing and maintaining normal cell and tissue homeostasis. Indeed, mutations in COPII genes cause a range of human pathologies, including cranio-lenticulo-sutural dysplasia (CLSD), which is characterized by collagen trafficking defects, craniofacial abnormalities and skeletal dysmorphology...
November 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/29160842/environmental-exposure-to-dioxins-dibenzofurans-bisphenol-a-and-phthalates-in-children-with-and-without-autism-spectrum-disorder-living-near-the-gulf-of-mexico
#3
Mohammad H Rahbar, Hanes M Swingle, MacKinsey A Christian, Manouchehr Hessabi, MinJae Lee, Meagan R Pitcher, Sean Campbell, Amy Mitchell, Ryan Krone, Katherine A Loveland, Donald G Patterson
Environmental exposure to organic endocrine disrupting chemicals, including dioxins, dibenzofurans, bisphenol A (BPA), and phthalates has been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD). We conducted a pilot monitoring study of 30 ASD cases and 10 typically developing (TD) controls ages 2-8 years from communities along the Gulf of Mexico near Alabama, which houses 14 Superfund sites, to assess the concentrations of dioxins and dibenzofurans in serum, and BPA and phthalate ester metabolites in urine...
November 21, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#4
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#5
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29158261/the-biotin-ligating-protein-bpl-1-is-critical-for-lipid-biosynthesis-and-polarization-of-the-caenorhabditis-elegans-embryo
#6
Jason S Watts, Diane G Morton, Kenneth J Kemphues, Jennifer L Watts
Biotin is an essential cofactor for multiple metabolic reactions catalyzed by carboxylases. Biotin is covalently linked to apoproteins by holocarboxylase synthetase (HCS). Accordingly, some mutations in HCS cause holocarboxylase deficiency, a rare metabolic disorder that can be life threatening if left untreated. However, the long-term effects of HCS deficiency are poorly understood. Here, we report our investigations of bpl-1, which encodes the C. elegans ortholog of HCS. We found that mutations in the biotin-binding region of bpl-1 are maternal-effect lethal, and cause defects in embryonic polarity establishment, meiosis, and the integrity of the eggshell permeability barrier...
November 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29157796/neuropeptide-s-in-the-basolateral-amygdala-mediates-an-adaptive-behavioral-stress-response-in-a-rat-model-of-posttraumatic-stress-disorder-by-increasing-the-expression-of-bdnf-and-the-neuropeptide-yy1-receptor
#7
Cohen Hagit, Vainer Ella, Zeev Kaplan, Zohar Joseph, Mathé A Aleksander
Neuropeptide S (NPS) is a regulatory peptide that has anxiolytic and arousal-promoting effects in rodents. We used an animal model of posttraumatic stress disorder (PTSD) to assess long-term behavioral effects of a single dose of NPS, microinjected into the basolateral amygdala (BLA) 1h following exposure to predator-scent stress (PSS). To elucidate the molecular mechanism by which NPS attenuates behavioral stress responses, expression levels of neuropeptide Y (NPY), NPY-Y1 receptor (NPY-Y1R), and brain-derived neurotrophic factor (BDNF) were evaluated in the hippocampus...
November 17, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29156684/a-prenatal-interruption-of-disc1-function-in-the-brain-exhibits-a-lasting-impact-on-adult-behaviors-brain-metabolism-and-interneuron-development
#8
Dazhi Deng, Chongdong Jian, Ling Lei, Yijing Zhou, Colleen McSweeney, Fengping Dong, Yilun Shen, Donghua Zou, Yonggang Wang, Yuan Wu, Limin Zhang, Yingwei Mao
Mental illnesses like schizophrenia (SCZ) and major depression disorder (MDD) are devastating brain disorders. The SCZ risk gene, disrupted in schizophrenia 1 (DISC1), has been associated with neuropsychiatric conditions. However, little is known regarding the long-lasting impacts on brain metabolism and behavioral outcomes from genetic insults on fetal NPCs during early life. We have established a new mouse model that specifically interrupts DISC1 functions in NPCs in vivo by a dominant-negative DISC1 (DN-DISC1) with a precise temporal and spatial regulation...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155766/assessment-of-blood-brain-barrier-permeability-by-intravenous-infusion-of-fitc-labeled-albumin-in-a-mouse-model-of-neurodegenerative-disease
#9
Alba Di Pardo, Salvatore Castaldo, Luca Capocci, Enrico Amico, Maglione Vittorio
Disruption of blood-brain barrier (BBB) integrity is a common feature for different neurological and neurodegenerative diseases. Although the interplay between perturbed BBB homeostasis and the pathogenesis of brain disorders needs further investigation, the development and validation of a reliable procedure to accurately detect BBB alterations may be crucial and represent a useful tool for potentially predicting disease progression and developing targeted therapeutic strategies. Here, we present an easy and efficient procedure for evaluating BBB leakage in a neurodegenerative condition like that occurring in a preclinical mouse model of Huntington disease, in which defects in the permeability of BBB are clearly detectable precociously in the disease...
November 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155477/oxidized-low-density-lipoprotein-suppresses-mouse-granulosa-cell-differentiation-through-disruption-of-the-hypoxia-inducible-factor-1-pathway
#10
Xiaoliang Chen, Yanhong Liu, Yanhong Shan, Xingyi Jin, Qingyang Shi, Chunshu Jia
Obesity predisposes women to reproductive disorders. One symptom of obesity in women is higher levels of oxidized Low-density lipoprotein (oxLDL) in serum and preovulatory follicles. The present study was designed to test the hypothesis that oxLDL might impair follicle differentiation and luteinization. Given that Hypoxia-inducible factor 1 (HIF1) plays crucial roles in supporting follicle differentiation and luteinization in mammals, we focused on oxLDL-mediated events that may affect the HIF1 pathway. We report that exposure to oxLDL diminished the expression of HIF1α and its target genes and suppressed the differentiation of mouse luteinized granulosa cells following induction by human Chorionic gonadotophin (hCG) under hypoxic conditions (1% oxygen)...
November 20, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#11
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29154800/the-use-of-model-fish-as-tools-for-research-the-biological-mechanisms-of-cooperative-behaviour-a-future-for-translational-research-concerning-social-anxiety-disorders
#12
REVIEW
Marta C Soares, Sónia C Cardoso, Tamires Dos Santos Carvalho, Caio Maximino
Human societies demand of its composing members the development of a wide array of social tools and strategies. A notable example is human outstanding ability to cooperate with others, in all its complex forms, depicting the reality of a highly demanding social framework in which humans need to be integrated as to attain physical and mental benefits. Considering the importance of social engagement, it's not entirely unexpected that most psychiatric disorders involve some disruption of normal social behaviour, ranging from an abnormal absence to a significant increase of social functioning...
November 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29153459/-intrafamilial-disruptive-behaviour-disorders-in-children-and-adolescents-present-data-and-treatment-prospects
#13
E Bousquet, N Franc, C Ha, D Purper-Ouakil
Child-to-parent violence is a form of family violence that is still a well-kept secret. Abused parents can be victims of different types of abuse. Children can use both physical and psychological violence such as financial threats to take control of the home. In this situation, parents often no longer dare to contradict their children by fear of triggering uncontrollable violence. Although the phenomenon recently drew the attention of the media, there is still little knowledge about its prevalence and clinical characteristics...
November 16, 2017: L'Encéphale
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#14
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29152224/recent-insights-into-perk-dependent-signaling-from-the-stressed-endoplasmic-reticulum
#15
REVIEW
Alexander McQuiston, J Alan Diehl
The unfolded protein response (UPR) is an evolutionarily conserved stress response to intra- and extracellular conditions that disrupt endoplasmic reticulum (ER) protein-folding capacity. The UPR is engaged by a variety of disease conditions, including most cancers as well as both metabolic and neurodegenerative disorders. Three transmembrane transducers-PERK, IRE1, and ATF6-are responsible for activating downstream signaling pathways that mediate the UPR and subsequent stress response pathways. PERK, an ER resident transmembrane protein kinase, initiates both pro-apoptotic and pro-survival signaling pathways...
2017: F1000Research
https://www.readbyqxmd.com/read/29152159/tetris-and-word-games-lead-to-fewer-intrusive-memories-when-applied-several-days-after-analogue-trauma
#16
Muriel A Hagenaars, Emily A Holmes, Fayette Klaassen, Bernet Elzinga
Background: Intrusive trauma memories are a key symptom of posttraumatic stress disorder (PTSD), so disrupting their recurrence is highly important. Intrusion development was hindered by visuospatial interventions administered up to 24 hours after analogue trauma. It is unknown whether interventions can be applied later, and whether modality or working-memory load are crucial factors. Objectives: This study tested: (1) whether a visuospatial task would lead to fewer intrusions compared to a reactivation-only group when applied after memory reactivation four days after analogue trauma exposure (extended replication), (2) whether both tasks (i...
2017: European Journal of Psychotraumatology
https://www.readbyqxmd.com/read/29150979/anterior-thalamic-nuclei-lesions-have-a-greater-impact-than-mammillothalamic-tract-lesions-on-the-extended-hippocampal-system
#17
Brook A L Perry, Stephanie A Mercer, Sophie C Barnett, Jungah Lee, John C Dalrymple-Alford
The anterior thalamic nuclei (ATN), mammillary bodies and their interconnecting fiber tract, the mammillothalamic tract (MTT), are important components of an extended hippocampal circuit for episodic memory. In humans, damage to the MTT or ATN in many disorders is associated with severe anterograde amnesia and it is assumed that their influence on memory is functionally equivalent. The relative influence of these two structures on memory has not, however, been assessed explicitly. Here, a direct comparison found that only ATN lesions impaired spatial reference memory in rats...
November 18, 2017: Hippocampus
https://www.readbyqxmd.com/read/29150527/transcriptional-regulators-of-redox-balance-and-other-homeostatic-processes-with-the-potential-to-alter-neurodegenerative-disease-trajectory
#18
REVIEW
Scott W Burnside, Giles E Hardingham
Diverse neurodegenerative diseases share some common aspects to their pathology, with many showing evidence of disruption to the brain's numerous homeostatic processes. As such, imbalanced inflammatory status, glutamate dyshomeostasis, hypometabolism and oxidative stress are implicated in many disorders. That these pathological processes can influence each other both up- and downstream makes for a complicated picture, but means that successfully targeting one area may have an effect on others. This targeting requires an understanding of the mechanisms by which homeostasis is maintained during health, in order to uncover strategies to boost homeostasis in disease...
November 17, 2017: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29150334/a-routinely-used-protein-staining-dye-acts-as-an-inhibitor-of-wild-type-and-mutant-alpha-synuclein-aggregation-and-modulator-of-neurotoxicity
#19
Nuzhat Ahsan, Ibrar Ahmed Siddique, Sarika Gupta, Avadhesha Surolia
Inhibition of amyloid formation along with modulation of toxicity employing small molecules is emerging as a potential therapeutic approach for protein misfolding disorders which includes Parkinson's disease, Alzheimer's disease and Multiple System Atrophy etc. Countless current interventional strategies for treating α-synucleinopathies consider using peptidic and non-peptidic inhibitors for arresting fibrillisation, disrupting existing fibrils and reducing associated toxicity. One group of molecules less exploited in this regard are triphenylmethane dyes...
October 12, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29149834/cystatin-c-in-cerebrovascular-disorders
#20
Yaru Zhang, Li Sun
Cystatin C (CysC), a cysteine protease inhibitor, has been widely proven to be a highly sensitive biomarker to predict the kidney function. The similarity of the renal and cerebral small vessels has awakened a surge of studies suggesting that CysC plays a key role in various cerebrovascular disorders. This review focuses on four major mechanisms of CysC in a variety of cerebrovascular diseases. (1)The property of the CysC Leu-68-Gln (L68Q) variant to aggregate and the property of the wild type CysC protein to co-aggregate with Amyloid-β (Aβ); (2)The disruption of equilibrium between CysC and related cysteine proteases; (3)The function of CysC as an inflammatory inducing factor; (4)The ability of CysC to induce autophagy...
November 15, 2017: Current Neurovascular Research
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