151 results match your criteria abnormality altering

Viral Infection Modulates Mitochondrial Function.

Int J Mol Sci 2021 Apr 20;22(8). Epub 2021 Apr 20.

College of Veterinary Medicine, South China Agricultural University, No. 483 Wushan Road, Tianhe District, Guangzhou 510642, China.

Mitochondria are important organelles involved in metabolism and programmed cell death in eukaryotic cells. In addition, mitochondria are also closely related to the innate immunity of host cells against viruses. The abnormality of mitochondrial morphology and function might lead to a variety of diseases. Read More

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PAI-1 in Diabetes: Pathophysiology and Role as a Therapeutic Target.

Int J Mol Sci 2021 Mar 20;22(6). Epub 2021 Mar 20.

Division of Cardiovascular & Diabetes Research, Leeds Institute of Cardiovascular and Metabolic Medicine (LICAMM), University of Leeds, Leeds LS2 9JT, UK.

Hypofibrinolysis is a key abnormality in diabetes and contributes to the adverse vascular outcome in this population. Plasminogen activator inhibitor (PAI)-1 is an important regulator of the fibrinolytic process and levels of this antifibrinolytic protein are elevated in diabetes and insulin resistant states. This review describes both the physiological and pathological role of PAI-1 in health and disease, focusing on the mechanism of action as well as protein abnormalities in vascular disease with special focus on diabetes. Read More

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Mitochondrial Dysfunction in Huntington's disease: Pathogenesis and Therapeutic Opportunities.

Curr Drug Targets 2021 Feb 23. Epub 2021 Feb 23.

Department of Pharmacy, Faculty of Pharmacy, University of Oradea. Romania.

Huntington's disease (HD) is prototypical neurodegenerative disease, preferentially disrupts the neurons of striatum and cor-tex. Progressive motor dysfunctions, psychiatric disturbances, behavioural impairments and cognitive decline are the clinical symptoms of HD progression. The disease occurs due to, expanded CAG repeats in exon 1 of huntingtin protein (mHtt) causing its aggregation. Read More

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February 2021

Dietary flaxseed oil improve boar semen quality, antioxidant status and in-vivo fertility in humid sub-tropical region of North East India.

Theriogenology 2021 Jan 24;159:123-131. Epub 2020 Oct 24.

ICAR-National Research Centre on Mithun, Medziphema, Nagaland, 797106, India.

Environmental stress in the form of high temperature humidity index (THI) in tropical and sub-tropical region negatively affects semen quality and fertility of boar. Therefore, the present study was done to evaluate the effect of supplementing flaxseed oil (FLO) to boar's diet on its semen quality, antioxidant status, fatty acid composition of seminal plasma and fertility under sub-tropical climate. For this purpose, six Hampshire crossbreed (50% Hampshire and 50% Gunghroo) boars were divided into two groups i. Read More

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January 2021

The application of histone deacetylases inhibitors in glioblastoma.

J Exp Clin Cancer Res 2020 Jul 18;39(1):138. Epub 2020 Jul 18.

Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

The epigenetic abnormality is generally accepted as the key to cancer initiation. Epigenetics that ensure the somatic inheritance of differentiated state is defined as a crucial factor influencing malignant phenotype without altering genotype. Histone modification is one such alteration playing an essential role in tumor formation, progression, and resistance to treatment. Read More

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Placental transcriptome profile of women with sickle cell disease reveals differentially expressed genes involved in migration, trophoblast differentiation and inflammation.

Blood Cells Mol Dis 2020 09 8;84:102458. Epub 2020 Jun 8.

Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas - UNICAMP, Campinas, SP 13083-875, Brazil. Electronic address:

Sickle cell disease (SCD) is a group of disorders whose common characteristic is the presence of hemoglobin (Hb) S in erythrocytes. The main consequence of this abnormality is vaso-occlusion, which can affect almost all organs including the placenta. This study aimed to evaluate the gene expression profile in placentas of women with SCD by means of total RNA sequencing. Read More

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September 2020

Immune-associated renal disease found in caspase 3-deficient mice.

Cell Tissue Res 2020 Feb 22;379(2):323-335. Epub 2019 Aug 22.

Laboratory of Anatomy, Department of Basic Veterinary Sciences, Faculty of Veterinary Medicine, Hokkaido University, Kita 18, Nishi 9, Kita-ku, Sapporo, 060-0818, Japan.

Caspase (CASP) 3 is known as a representative effector CASP of apoptosis and recently as a mediator in inflammatory cell death called pyroptosis. Interestingly, homozygotes of Casp3 knockout (KO) mice with 129-background show complete embryonic lethality; however, some of those with C57BL/6 (B6)-background (B6.129S1-Casp3/J) survived at a lower rate (KO, 11%; WT, 22%), developing immune abnormality-associated renal phenotypes. Read More

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February 2020

Comparative transcriptional analysis of methylparaben and propylparaben in zebrafish.

Sci Total Environ 2019 Jun 23;671:129-139. Epub 2019 Mar 23.

Biology, The Life Science Center, School of Science and Technology, Örebro University, SE-701 82 Örebro, Sweden. Electronic address:

Parabens are widely used as preservatives in different commercial items including food, cosmetics and pharmaceuticals, and their wide use has resulted in accumulation in the environment. Parabens have been shown to have negative effects on animals as well as human health. In this study, we carried out a comprehensive study to determine the adverse effects associated with propylparaben (PP) and methylparaben (MP) on early developmental stages of zebrafish. Read More

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Circadian control of stress granules by oscillating EIF2α.

Cell Death Dis 2019 03 4;10(3):215. Epub 2019 Mar 4.

Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai, 200031, China.

Stress granule formation is important for stress response in normal cells and could lead to chemotherapy resistance in cancer cells. Aberrant stress granule dynamics are also known to disrupt proteostasis, affect RNA metabolism, and contribute to neuronal cell death. Meanwhile, circadian abnormality is an aging-related risk factor for cancer and neurodegeneration. Read More

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Ocean acidification alters morphology of all otolith types in Clark's anemonefish ().

PeerJ 2019 7;7:e6152. Epub 2019 Jan 7.

School for the Environment, University of Massachusetts Boston, Boston, MA, United States of America.

Ocean acidification, the ongoing decline of surface ocean pH and [CO ] due to absorption of surplus atmospheric CO, has far-reaching consequences for marine biota, especially calcifiers. Among these are teleost fishes, which internally calcify otoliths, critical elements of the inner ear and vestibular system. There is evidence in the literature that ocean acidification increases otolith size and alters shape, perhaps impacting otic mechanics and thus sensory perception. Read More

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January 2019

Relative potency ranking of azoles altering craniofacial morphogenesis in rats: An in vitro data modelling approach.

Food Chem Toxicol 2019 Jan 10;123:553-560. Epub 2018 Dec 10.

Department of Environmental Sciences and Policy, Università degli Studi di Milano, Milan, Italy.

Facial malformations represent one of the most frequent abnormality in humans. The adverse outcome pathway involved in facial defects seems to be related to retinoic acid (RA) pathway imbalance. Environmental agents inducing craniofacial malformations in experimental models include pesticides (especially azole fungicides). Read More

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January 2019

Multiview Sequential Learning and Dilated Residual Learning for a Fully Automatic Delineation of the Left Atrium and Pulmonary Veins from Late Gadolinium-Enhanced Cardiac MRI Images.

Annu Int Conf IEEE Eng Med Biol Soc 2018 Jul;2018:1123-1127

Accurate delineation of heart substructures is a prerequisite for abnormality detection, for making quantitative and functional measurements, and for computer-aided diagnosis and treatment planning. Late Gadolinium-Enhanced Cardiac MRI (LGE-CMRI) is an emerging imaging technology for myocardial infarction or scar detection based on the differences in the volume of residual gadolinium distribution between scar and healthy tissues. While LGE-CMRI is a well-established non-invasive tool for detecting myocardial scar tissues in the ventricles, its application to left atrium (LA) imaging is more challenging due to its very thin wall of the LA and poor quality images, which may be produced because of motion artefacts and low signal-to-noise ratio. Read More

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Effects of personal and task constraints on limb coordination during walking: A systematic review and meta-analysis.

Clin Biomech (Bristol, Avon) 2019 01 3;61:1-10. Epub 2018 Nov 3.

Centre for Sport Engineering Research, Sheffield Hallam University, UK.

Background: In human behaviour, emergence of movement patterns is shaped by different, interacting constraints and consequently, individuals with motor disorders usually display distinctive lower limb coordination modes.

Objectives: To review existing evidence on the effects of motor disorders and different task constraints on emergent coordination patterns during walking, and to examine the clinical significance of task constraints on gait coordination in people with motor disorders.

Methods: The search included CINHAL Plus, MEDLINE, HSNAE, SPORTDiscus, Scopus, Pubmed and AMED. Read More

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January 2019

Computational Prediction of Position Effects of Human Chromosome Rearrangements.

Curr Protoc Hum Genet 2018 04 26;97(1). Epub 2018 Apr 26.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA.

Balanced and apparently balanced chromosome abnormalities (BCAs) have long been known to generate disease through position effects, either by altering local networks of gene regulation or positioning genes in architecturally different chromosome domains. Despite these observations, identification of distally affected genes by BCAs is oftentimes neglected, especially when predicted gene disruptions are found elsewhere in the genome. In this unit, we provide detailed instructions on how to run a computational pipeline that identifies relevant candidates of non-coding BCA position effects. Read More

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Impact of dextrose dose on hypoglycemia development following treatment of hyperkalemia.

Ther Adv Drug Saf 2018 Jun 11;9(6):323-329. Epub 2018 Apr 11.

Department of Pharmacy, Indiana University Health University Hospital, Indianapolis Indiana, USA.

Background: Hyperkalemia is an electrolyte abnormality that may cause ventricular dysrhythmias and cardiac arrest. The presence of hyperkalemia may necessitate prompt treatment intravenous insulin and dextrose. One notable complication of this therapy is the development of hypoglycemia. Read More

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ER stress and genomic instability induced by gamma radiation in mice primary cultured glial cells.

Metab Brain Dis 2018 06 10;33(3):855-868. Epub 2018 Feb 10.

Department of Applied Zoology, Mangalore University, Mangalagangotri, Mangalore, Karnataka State, 574199, India.

Ionizing radiation induces various pathophysiological conditions by altering central nervous system (CNS) homeostasis, leading to neurodegenerative diseases. However, the potential effect of ionizing radiation response on cellular physiology in glial cells is unclear. In the present study, micronucleus test, comet assay, and RT-PCR were performed to investigate the potential effect of gamma radiation in cultured oligodendrocytes and astrocytes with respect to genomic instability, Endoplasmic Reticulum (ER) stress, and inflammation. Read More

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Patterns of altered neural synchrony in the default mode network in autism spectrum disorder revealed with magnetoencephalography (MEG): Relationship to clinical symptomatology.

Autism Res 2018 03 18;11(3):434-449. Epub 2017 Dec 18.

University of Massachusetts, Amherst, Massachusetts.

Disrupted neural synchrony may be a primary electrophysiological abnormality in autism spectrum disorders (ASD), altering communication between discrete brain regions and contributing to abnormalities in patterns of connectivity within identified neural networks. Studies exploring brain dynamics to comprehensively characterize and link connectivity to large-scale cortical networks and clinical symptoms are lagging considerably. Patterns of neural coherence within the Default Mode Network (DMN) and Salience Network (SN) during resting state were investigated in 12 children with ASD (M  = 9. Read More

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The etiologies of DNA abnormalities in male infertility: An assessment and review.

Int J Reprod Biomed 2017 Jun;15(6):331-344

Research and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

The sperm DNA damage may occur in testis, genital ducts, and also after ejaculation. Mechanisms altering chromatin remodeling are abortive apoptosis and oxidative stress resulting from reactive oxygen species. Three classifications of intratesticular, post-testicular, and external factors have been correlated with increased levels of human sperm DNA damage which can affect the potential of fertility. Read More

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Research on a 'drug-centred' approach to psychiatric drug treatment: assessing the impact of mental and behavioural alterations produced by psychiatric drugs.

J Moncrieff

Epidemiol Psychiatr Sci 2018 04 12;27(2):133-140. Epub 2017 Oct 12.

Reader in Critical and Social Psychiatry, Division of Psychiatry,University College London,London,UK.

Aims: This article explores an alternative understanding of how psychiatric drugs work that is referred to as the drug-centred model of drug action. Unlike the current disease-centred model, which suggests that psychiatric drugs work by correcting an underlying brain abnormality, the drug-centred model emphasises how psychiatric drugs affect mental states and behaviour by modifying normal brain processes. The alterations produced may impact on the emotional and behavioural problems that constitute the symptoms of mental disorders. Read More

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Identifying the risk of producing aneuploids using meiotic recombination genes as biomarkers: A copy number variation approach.

Indian J Med Res 2017 Jan;145(1):39-50

Department of Studies in Genetics & Genomics, University of Mysore, Mysuru, India.

Background & Objectives: Aneuploids are the most common chromosomal abnormality in liveborns and are usually the result of non-disjunction (NDJ) in meiosis. Copy number variations (CNVs) are large structural variations affecting the human genome. CNVs influence critical genes involved in causing NDJ by altering their copy number which affects the clinical outcome. Read More

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January 2017

Evaluation of the role of splint therapy in the treatment of temporomandibular joint pain on the basis of MRI evidence of altered disc position.

J Craniomaxillofac Surg 2017 Apr 25;45(4):455-460. Epub 2017 Jan 25.

Department of Dentistry and Oral Surgery, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.

Objective: To clarify whether altering temporomandibular joint (TMJ) condyle and disc positions by occlusal splint (splint) therapy relieves TMJ pain and to determine whether splint therapy facilitates improvement of the ranges of condyle and articular disc motions.

Study Design: A total of 150 joints of 75 patients admitted with TMJ pain/discomfort were evaluated. A visual analog scale for TMJ pain was administered during visits following the start of splint treatment. Read More

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Sudden cardiac death: the pro-arrhythmic interaction of an acute loading with an underlying substrate.

Eur Heart J 2017 Oct;38(40):2986-2994

Department of Cardiovascular Sciences, Laboratory on Cardiovascular Imaging & Dynamics, Medical Imaging Research Center, UZ Leuven, Herestraat 49, bus 7003, Leuven 3000, Belgium.

Sudden cardiac death (SCD) is a complex phenomenon, occurring either in apparently normal individuals or in those where there is a recognized underlying cardiac abnormality. In both groups, the lethal arrhythmia has frequently been related to the physiologic trigger of either exercise or stress. Prior research into SCD has focused mainly on a combination of identifying either vulnerable myocardial substrates; pharmacological approaches to altering electrical activation/repolarisation in substrates; or the suppression of induced lethal arrhythmias with implantable defibrillators. Read More

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October 2017

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

Hum Mol Genet 2017 01;26(1):33-43

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.

We performed whole exome sequencing in individuals from a family with autosomal dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with epithelial hyperplasia and enhanced EGFR signalling. Ménétrier disease is believed to be an acquired disorder, but its aetiology is unknown. In affected members, we found a missense p. Read More

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January 2017

Haglund's Syndrome: A Commonly Seen Mysterious Condition.

Cureus 2016 Oct 7;8(10):e820. Epub 2016 Oct 7.

Orthopaedics, Indraprastha Apollo Hospitals.

Haglund's deformity was first described by Patrick Haglund in 1927. It is also known as retrocalcaneal exostosis, Mulholland deformity, and 'pump bump.' It is a very common clinical condition, but still poorly understood. Read More

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October 2016

The role of DNA polymerase ζ in translesion synthesis across bulky DNA adducts and cross-links in human cells.

Mutat Res 2016 Sep - Oct;791-792:35-41. Epub 2016 Aug 25.

Division of Genetics and Mutagenesis, National Institute of Health Sciences, 1-18-1 Kamiyoga, Setagaya-ku, Tokyo 158-8501, Japan.

Translesion DNA synthesis (TLS) is a cellular defense mechanism against genotoxins. Defects or mutations in specialized DNA polymerases (Pols) involved in TLS are believed to result in hypersensitivity to various genotoxic stresses. Here, DNA polymerase ζ (Pol ζ)-deficient (KO: knockout) and Pol ζ catalytically dead (CD) human cells were established and their sensitivity towards cytotoxic activities of various genotoxins was examined. Read More

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Gastric Bypass Surgery Reverses Diabetic Phenotypes in Bdnf-Deficient Mice.

Am J Pathol 2016 08 11;186(8):2117-2128. Epub 2016 Jul 11.

State Key Laboratory of Pharmaceutical Biotechnology and MOE Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, China; Collaborative Innovation Center of Genetics and Development, Nanjing University, Nanjing, China. Electronic address:

Duodenum-jejunum gastric bypass (DJB) has been used to treat morbid diabetic patients. However, neither the suitability among patients nor the mechanisms of this surgical treatment is clear. Previously, we reported a new mouse strain named Timo as type 2 diabetes model caused by brain-derived neurotrophic factor (Bdnf) deficiency. Read More

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Programming social behavior by the maternal fragile X protein.

Genes Brain Behav 2016 07 10;15(6):578-87. Epub 2016 Jun 10.

Department of Pharmacology, Weill Cornell Medical College, New York, USA.

The developing fetus and neonate are highly sensitive to maternal environment. Besides the well-documented effects of maternal stress, nutrition and infections, maternal mutations, by altering the fetal, perinatal and/or early postnatal environment, can impact the behavior of genetically normal offspring. Mutation/premutation in the X-linked FMR1 (encoding the translational regulator FMRP) in females, although primarily responsible for causing fragile X syndrome (FXS) in their children, may also elicit such maternal effects. Read More

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ApoA1 and ApoA1-specific self-antibodies in cardiovascular disease.

Lab Invest 2016 07 16;96(7):708-18. Epub 2016 May 16.

Institute of General Pathology and Pathophysiology, Russian Academy of Sciences, Moscow, Russia.

Apolipoprotein A1 (ApoA1) is a main protein moiety in high-density lipoprotein (HDL) particles. Generally, ApoA1 and HDL are considered as atheroprotective. In prooxidant and inflammatory microenvironment in the vicinity to the atherosclerotic lesion, ApoA1/HDL are subjected to modification. Read More

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

Am J Hum Genet 2016 05 21;98(5):981-992. Epub 2016 Apr 21.

MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.

Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals with GS recruited to the Deciphering Developmental Disorders study. Whole-exome or targeted sequence analysis identified plausible disease-causing ITPR1 mutations in 10/10 additional GS-affected individuals. Read More

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