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Molecular pathology

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https://www.readbyqxmd.com/read/28743126/frontal-cortex-and-hippocampal-%C3%AE-secretase-activating-protein-levels-in-prodromal-alzheimer-disease
#1
Sylvia E Perez, Muhammad Nadeem, Michael H Malek-Ahmadi, Bin He, Elliott J Mufson
BACKGROUND: β-Amyloid (Aβ) is the product of concerted cleavage of the amyloid precursor protein (APP) by β- and γ-secretases. However, the molecular mechanisms that regulate this process are not well understood. Recently, evidence was reported that γ-secretase activating protein (GSAP, 16 kDa), derived from a larger precursor protein (98 kDa), plays a role in Aβ metabolism through a mechanism involving its interaction with both γ-secretase and APP. However, a detailed evaluation of GSAP protein levels and their association with clinical and neuropathological variables are lacking during the clinical progression of Alzheimer disease (AD)...
July 26, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28743058/oral-nanotherapeutics-redox-nanoparticles-attenuate-ultraviolet-b-radiation-induced-skin-inflammatory-disorders-in-kud-hr-hairless-mice
#2
Chitho P Feliciano, Yukio Nagasaki
The active participation of an anti-inflammatory drug in the biological pathways of inflammation is crucial for the achievement of beneficial and therapeutic effects. This study demonstrated the development of redox nanoparticles that can circulate in the blood at significantly high levels, thus increasing their efficacy as an oral treatment against the deleterious effects of reactive oxygen species (ROS) in an in vivo inflammatory skin model. To confirm the blood bioavailability of the nanoparticles, mice were injected with the nanoparticles solution (RNP(N)) via oral gavage...
July 12, 2017: Biomaterials
https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#3
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28742148/hijacking-of-the-o-glcnaczyme-complex-by-the-htlv-1-tax-oncoprotein-facilitates-viral-transcription
#4
Damien Groussaud, Mostafa Khair, Armelle I Tollenaere, Laetitia Waast, Mei-Shiue Kuo, Marianne Mangeney, Christophe Martella, Yann Fardini, Solène Coste, Mouloud Souidi, Laurence Benit, Claudine Pique, Tarik Issad
The viral Tax oncoprotein plays a key role in both Human T-cell lymphotropic virus type 1 (HTLV-1)-replication and HTLV-1-associated pathologies, notably adult T-cell leukemia. Tax governs the transcription from the viral 5'LTR, enhancing thereby its own expression, via the recruitment of dimers of phosphorylated CREB to cAMP-response elements located within the U3 region (vCRE). In addition to phosphorylation, CREB is also the target of O-GlcNAcylation, another reversible post-translational modification involved in a wide range of diseases, including cancers...
July 24, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28741930/n-terminal-acetylation-preserves-%C3%AE-synuclein-from-oligomerization-by-blocking-intermolecular-hydrogen-bonds
#5
Bing Bu, Xin Tong, Dechang Li, Yachong Hu, Wangxiao He, Chunyu Zhao, Rui Hu, Xiaoqing Li, Yongping Shao, Cong Liu, Qing Zhao, Baohua Ji, Jiajie Diao
The abnormal aggregation of α-synuclein (α-Syn) is closely associated with Parkinson's diseases. Different post-translational modifications of α-Syn have been identified and contribute distinctly in α-Syn aggregation and cytotoxicity. Recently, α-Syn was reported to be N-terminally acetylated in cell, yet the functional implication of this modification, especially in α-Syn oligomerization remains unclear. By using a solid-state nanopore system, we found that N-terminal acetylation can significantly decrease α-Syn oligomerization...
July 25, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28741265/mechanisms-of-type-2-diabetes-risk-loci
#6
REVIEW
Kyle J Gaulton
PURPOSE OF REVIEW: Deciphering the mechanisms of type 2 diabetes (T2DM) risk loci can greatly inform on disease pathology. This review discusses current knowledge of mechanisms through which genetic variants influence T2DM risk and considerations for future studies. RECENT FINDINGS: Over 100 T2DM risk loci to date have been identified. Candidate causal variants at risk loci map predominantly to non-coding sequence. Physiological, epigenomic and gene expression data suggest that variants at many known T2DM risk loci affect pancreatic islet regulation, although variants at other loci also affect protein function and regulatory processes in adipose, pre-adipose, liver, skeletal muscle and brain...
September 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28740920/pathologic-response-after-neoadjuvant-chemotherapy-predicts-locoregional-control-in-patients-with-triple-negative-breast-cancer
#7
Victor E Chen, Erin F Gillespie, Kaveh Zakeri, James D Murphy, Catheryn M Yashar, Sharon Lu, John P Einck
PURPOSE: Our goal was to determine the impact of pathologic response after neoadjuvant chemotherapy in triple negative breast cancer (TNBC) on the subsequent risk of locoregional recurrence (LRR) and disease-free survival (DFS) in the setting of adjuvant radiation therapy. METHODS AND MATERIALS: This was an institutional review board-approved retrospective chart review of patients with clinical stage I-III breast cancer treated with neoadjuvant chemotherapy, local surgery (breast conservation or mastectomy), and adjuvant radiation therapy between 1997 and 2015...
April 2017: Advances in Radiation Oncology
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#8
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740732/low-molecular-weight-ngf-mimetic-corrects-the-cognitive-deficit-and-depression-like-behavior-in-experimental-diabetes
#9
R U Ostrovskaya, S S Yagubova, T A Gudasheva, S B Seredenin
Based on the comorbidity of diabetes, depression, and dementia and recognizing that a deficiency of the nerve growth factor (NGF) is involved in all of these kinds of pathologies, we studied the effect of the mimetic of dimeric dipeptide NGF loop 4, GK-2, on a model of streptozotocin-induced type 2 diabetes in C57Bl/6 mice. GK-2 [hexamethylenediamide bis-(N-monosuccinyl-glutamyl-lysine)] was synthesized at the V.V. Zakusov Scientific Research Institute of Pharmacology. The study revealed the ability of GK-2 to ameliorate hyperglycemia induced by streptozotocine (STZ 100 mg/kg i...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28740725/huntington-s-disease-calcium-dyshomeostasis-and-pathology-models
#10
Y A Kolobkova, V A Vigont, A V Shalygin, E V Kaznacheyeva
Huntington's disease (HD) is a severe inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and mental impairment. At the molecular level, HD is caused by a mutation in the first exon of the gene encoding the huntingtin protein. The mutation results in an expanded polyglutamine tract at the N-terminus of the huntingtin protein, causing the neurodegenerative pathology. Calcium dyshomeostasis is believed to be one of the main causes of the disease, which underlies the great interest in the problem among experts in molecular physiology...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28740527/molecular-genetics-in-primary-hyperparathyroidism-the-role-of-genetic-tests-in-differential-diagnosis-disease-prevention-strategy-and-therapeutic-planning-a-2017-update
#11
REVIEW
Francesca Marini, Luisella Cianferotti, Francesca Giusti, Maria Luisa Brandi
Primary hyperparathyroidism (PHPT) is one of the most frequent endocrine disease in developed countries. It mainly occurs as sporadic cases (about 90-95% of cases), while only the remaining 5-10% is represented by familial inherited parathyroid disorders due to causative mutations in specific target genes. Clinical variability among the different familial parathyroid syndromes is generally linked to the specific mutated gene and it can predispose subjects to different manifestations of parathyroid pathology, various degrees of PHPT severity, persistence and/or after-surgery recurrences...
January 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28740491/nod-like-receptor-p3-inflammasome-controls-protective-th1-th17-immunity-against-pulmonary-paracoccidioidomycosis
#12
Claudia Feriotti, Eliseu Frank de Araújo, Flavio Vieira Loures, Tania Alves da Costa, Nayane Alves de Lima Galdino, Dario Simões Zamboni, Vera Lucia Garcia Calich
The NOD-like receptor P3 (NLRP3) inflammasome is an intracellular multimeric complex that triggers the activation of inflammatory caspases and the maturation of IL-1β and IL-18, important cytokines for the innate immune response against pathogens. The functional NLRP3 inflammasome complex consists of NLRP3, the adaptor protein apoptosis-associated speck-like protein, and caspase-1. Various molecular mechanisms were associated with NLRP3 activation including the presence of extracellular ATP, recognized by the cell surface P2X7 receptor (P2X7R)...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28739642/animal-models-of-ocular-angiogenesis-from-development-to-pathologies
#13
REVIEW
Chi-Hsiu Liu, Zhongxiao Wang, Ye Sun, Jing Chen
Pathological angiogenesis in the eye is an important feature in the pathophysiology of many vision-threatening diseases, including retinopathy of prematurity, diabetic retinopathy, and age-related macular degeneration, as well as corneal diseases with abnormal angiogenesis. Development of reproducible and reliable animal models of ocular angiogenesis has advanced our understanding of both the normal development and the pathobiology of ocular neovascularization. These models have also proven to be valuable experimental tools with which to easily evaluate potential antiangiogenic therapies beyond eye research...
July 24, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28738590/extracellular-matrix-characterization-in-plaques-from-carotid-endarterectomy-by-a-proteomics-approach
#14
N Ucciferri, S Rocchiccioli, L Comelli, M Marconi, M Ferrari, G Pelosi, A Cecchettini
Extracellular matrix (ECM) is a fundamental component of multicellular organisms. Alteration of its structure and/or molecular composition are associated with several pathologies, among the others with atherosclerosis. To determine how the overall ECM architecture of a tissue as complex as the atheroma may change under varying pathological conditions constitutes a great technical challenge. This entails removing cell components and solubilisation of fibrillar proteins in order to allow enzymatic digestion and mass spectrometry analyses...
November 1, 2017: Talanta
https://www.readbyqxmd.com/read/28736722/alterations-in-antioxidant-system-mitochondrial-biogenesis-and-autophagy-in-preeclamptic-myometrium
#15
Polina A Vishnyakova, Maria A Volodina, Nadezhda V Tarasova, Maria V Marey, Natalya E Kan, Zulfiya S Khodzhaeva, Mikhail Yu Vysokikh, Gennady T Sukhikh
Preeclampsia is a pregnancy complication which causes significant maternal and fetal morbidity and mortality worldwide. Although intensive research has been performed in the last 40 years, the pathology of preeclampsia is still poorly understood. The present work is a comparative study of the myometrium of women with normal pregnancy, and those with late- and early-onset preeclampsia (n = 10 for each group). We observed significant changes in the levels of antioxidant enzymes, markers of mitochondrial biogenesis and autophagy proteins in preeclamptic myometrium...
December 2017: BBA Clinical
https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#16
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28736318/psma-targeted-18-f-dcfpyl-pet-ct-in-the-preoperative-staging-of-men-with-high-risk-prostate-cancer-results-of-a-prospective-phase-ii-single-center-study
#17
Michael A Gorin, Steven P Rowe, Hiten D Patel, Igor Vidal, Margarita Mana-Ay, Mehrbod S Javadi, Lilja B Solnes, Ashley E Ross, Edward M Schaeffer, Trinity J Bivalacqua, Alan W Partin, Kenneth J Pienta, Zsolt Szabo, Angelo M De Marzo, Martin G Pomper, Mohamad E Allaf
PURPOSE: To prospectively evaluate the diagnostic performance of PSMA-targeted (18)F-DCFPyL PET/CT in the preoperative staging of men at high risk of harboring metastatic prostate cancer despite a negative conventional staging evaluation. MATERIALS AND METHODS: Men with clinically localized high or very-high risk prostate cancer were imaged with (18)F-DCFPyL PET/CT prior to undergoing radical prostatectomy with a standardized pelvic lymph node dissection. PET/CT scans were interpreted by two blinded nuclear medicine readers and were assessed for inter-reader variability as well as diagnostic accuracy for pelvic lymph node staging...
July 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28736023/protective-effects-of-geniposide-on-hepatic-ischemia-reperfusion-injury
#18
Y-P Rong, H-T Huang, J-S Liu, L Wei
BACKGROUND: Geniposide (GEN) is the major ingredient of Gardenia jasminoides Ellis, which has anti-inflammatory and anti-apoptotic activities and is widely used to treat ischemia disease. Inflammation and apoptosis play an important role in hepatic ischemia/reperfusion (I/R) injury. The current study was conducted to explore the effects of geniposide on hepatic I/R injury and its potential molecular mechanism in mice. METHODS: Fifty Sprague-Dawley rats were randomly divided into 5 groups: the sham group (sham), the hepatic I/R injury group (IRI) and the GEN groups (low, middle, and high)...
July 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28735817/osteosarcoma-molecular-pathogenesis-and-ipsc-modeling
#19
REVIEW
Yu-Hsuan Lin, Brittany E Jewell, Julian Gingold, Linchao Lu, Ruiying Zhao, Lisa L Wang, Dung-Fang Lee
Rare hereditary disorders provide unequivocal evidence of the importance of genes in human disease pathogenesis. Familial syndromes that predispose to osteosarcomagenesis are invaluable in understanding the underlying genetics of this malignancy. Recently, patient-derived induced pluripotent stem cells (iPSCs) have been successfully utilized to model Li-Fraumeni syndrome (LFS)-associated bone malignancy, demonstrating that iPSCs can serve as an in vitro disease model to elucidate osteosarcoma etiology. We provide here an overview of osteosarcoma predisposition syndromes and review recently established iPSC disease models for these familial syndromes...
July 20, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28735706/amniotic-fluid-transcriptomics-reflects-novel-disease-mechanisms-in-fetuses-with-myelomeningocele
#20
Tomo Tarui, Aimee Kim, Alan Flake, Lauren Mcclain, John Stratigis, Inbar Fried, Rebecca Newman, Donna K Slonim, Diana W Bianchi
BACKGROUND: Cell-free (cf) RNA in amniotic fluid supernatant (AFS) reflects developmental changes in gene expression in the living fetus, including genes specific to the central nervous system (CNS). Although it has been previously shown that CNS-specific transcripts are present in AFS, it is not known whether changes in the AFS transcriptome reflect the specific pathophysiology of fetal CNS disorders. In myelomeningocele, there is open communication between the CNS and amniotic fluid...
July 20, 2017: American Journal of Obstetrics and Gynecology
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