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protein C deficiency

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https://www.readbyqxmd.com/read/29218739/successful-liver-transplantation-for-homozygous-protein-c-deficiency-with-a-type-ii-mutation-using-a-heterozygous-living-related-donor
#1
Alexander A Boucher, Lori Luchtman-Jones, Jaimie D Nathan, Joseph S Palumbo
No abstract text is available yet for this article.
December 8, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29217822/hepatocyte-toll-like-receptor-4-mediates-lipopolysaccharide-induced-hepcidin-expression
#2
Yong-Soo Lee, Yong-Hoon Kim, Yoon Seok Jung, Ki-Sun Kim, Don-Kyu Kim, Soon-Young Na, Ji-Min Lee, Chul-Ho Lee, Hueng-Sik Choi
Hepcidin expression is induced by inflammatory molecules such as lipopolysaccharide (LPS) via a macrophage-mediated pathway. Although hepatocytes directly respond to LPS, the molecular mechanism underlying toll-like receptor (TLR)-dependent hepcidin expression by hepatocytes is mostly unknown. Here we show that LPS can directly induce the mRNA expression and secretion of hepcidin by hepatocytes via TLR4 activation. Using hepatocytes deficient in TLR4, myeloid differentiation factor 88 (MyD88) and TIR domain-containing adaptor inducing interferon-β (TRIF), we demonstrated that LPS-induced hepcidin expression by hepatocytes is regulated by its specific receptor, TLR4, via a MyD88-dependent signaling pathway...
December 8, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29217198/clinical-molecular-and-computational-analysis-in-two-cases-with-mitochondrial-encephalomyopathy-associated-with-suclg1-mutation-in-a-consanguineous-family
#3
Marwa Maalej, Amel Tej, Jihène Bouguila, Samia Tilouche, Senda Majdoub, Boudour Khabou, Mouna Tabbebi, Rahma Felhi, Marwa Ammar, Emna Mkaouar-Rebai, Leila Keskes, Lamia Boughamoura, Faiza Fakhfakh
Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c...
December 4, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29216635/deficits-in-docosahexaenoic-acid-accrual-during-adolescence-reduce-rat-forebrain-white-matter-microstructural-integrity-an-in-vivo-diffusion-tensor-imaging-study
#4
Robert K McNamara, Jennifer D Schurdak, Ruth H Asch, Bart D Peters, Diana M Lindquist
Neuropsychiatric disorders that frequently initially emerge during adolescence are associated with deficits in the omega-3 (n-3) fatty acid docosahexaenoic acid (DHA), elevated proinflammatory signaling, and regional reductions in white matter integrity (WMI). This study determined the effects of altering brain DHA accrual during adolescence on WMI in the rat brain by diffusion tensor imaging (DTI), and investigated the potential mediating role of proinflammatory signaling. During periadolescent development, male rats were fed a diet deficient in n-3 fatty acids (DEF, n = 20), a fish oil-fortified diet containing preformed DHA (FO, n = 20), or a control diet (CON, n = 20)...
December 8, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/29213074/galectin-3-impacts-cryptococcus-neoformans-infection-through-direct-antifungal-effects
#5
Fausto Almeida, Julie M Wolf, Thiago Aparecido da Silva, Carlos M DeLeon-Rodriguez, Caroline Patini Rezende, André Moreira Pessoni, Fabrício Freitas Fernandes, Rafael Silva-Rocha, Roberto Martinez, Marcio L Rodrigues, Maria Cristina Roque-Barreira, Arturo Casadevall
Cryptococcus neoformans is an encapsulated fungal pathogen that causes cryptococcosis, which is a major opportunistic infection in immunosuppressed individuals. Mammalian β-galactoside-binding protein Galectin-3 (Gal-3) modulates the host innate and adaptive immunity, and plays significant roles during microbial infections including some fungal diseases. Here we show that this protein plays a role also in C. neoformans infection. We find augmented Gal-3 serum levels in human and experimental infections, as well as in spleen, lung, and brain tissues of infected mice...
December 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/29211351/application-of-fourier-transform-infrared-spectroscopy-to-biomolecular-profiling-of-cultured-fibroblast-cells-from-gaucher-disease-patients-a-preliminary-investigation
#6
Nasit Igci, Parisa Sharafi, Duygu Ozel Demiralp, Cemil Ozerk Demiralp, Aysel Yuce, Serap Dokmeci Emre
BACKGROUND: Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.2.1.45). Glucocerebrosidase is responsible for the degradation of glucosylceramide into ceramide and glucose. The deficiency of this enzyme results in the accumulation of undegraded glucosylceramide, almost exclusively in macrophages. With Fourier transform infrared (FTIR) spectroscopy, the complete molecular diversity of the samples can be studied comparatively and the amount of the particular materials can be determined...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29210072/chemical-hypoxia-induced-integrated-stress-response-activation-in-oligodendrocytes-is-mediated-by-the-transcription-factor-nuclear-factor-erythroid-derived-2-like-2-nrf2
#7
Nico Teske, Annette Liessem, Felix Fischbach, Tim Clarner, C Beyer, Christoph Wruck, Athanassios Fragoulis, Simone C Tauber, Marion Victor, Markus Kipp
The extent of remyelination in multiple sclerosis (MS) lesions is often incomplete. Injury to oligodendrocyte progenitor cells can be a contributing factor for such incomplete remyelination. The precise mechanisms underlying insufficient repair remain to be defined, but oxidative stress appears to be involved. Here, we used immortalized oligodendrocyte cell lines as model systems to investigate a causal relation of oxidative stress and endoplasmic reticulum stress signaling cascades. OLN93 and OliNeu cells were subjected to chemical hypoxia by blocking the respiratory chain at various levels...
December 6, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29209094/possible-function-of-the-second-recj-like-protein-in-stalled-replication-fork-repair-by-interacting-with-hef
#8
Mariko Nagata, Sonoko Ishino, Takeshi Yamagami, Jan-Robert Simons, Tamotsu Kanai, Haruyuki Atomi, Yoshizumi Ishino
RecJ was originally identified in Escherichia coli and plays an important role in the DNA repair and recombination pathways. Thermococcus kodakarensis, a hyperthermophilic archaeon, has two RecJ-like nucleases. These proteins are designated as GAN (GINS-associated nuclease) and HAN (Hef-associated nuclease), based on the protein they interact with. GAN is probably a counterpart of Cdc45 in the eukaryotic CMG replicative helicase complex. HAN is considered mainly to function with Hef for restoration of the stalled replication fork...
December 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29208700/hypertension-evoked-rhoa-activity-in-vascular-smooth-muscle-cells-requires-rgs5
#9
Caroline Arnold, Eda Demirel, Anja Feldner, Guillem Genové, Hangjun Zhang, Carsten Sticht, Thomas Wieland, Markus Hecker, Scott Heximer, Thomas Korff
G protein-mediated signaling plays a decisive role in blood pressure regulation and the phenotype of vascular smooth muscle cells (VSMCs); however, the relevance of proteins that restrict G protein activity is not well characterized in this context. Here, we investigated the influence of regulator of G protein signaling 5 (RGS5), an inhibitor of Gαq/11 and Gαi/o activity, on blood pressure and the VSMC phenotype during experimental hypertension. In mice, loss of RGS5 did not affect baseline blood pressure, but prevented hypertension-induced structural remodeling...
December 5, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29207759/combined-thrombophilia-in-a-young-male-presenting-as-life-threatening-pulmonary-embolism
#10
Akshyaya Pradhan, Ayush Shukla, Mili Jain, Anupam Mehrotra, Rishi Sethi
Combined hereditary thrombophilia is an uncommon entity associated with higher risk of early onset thrombosis. We report a case of 39-year-old male with combined deficiency of natural anticoagulants (protein C, S and anti thrombin) along with hyper homocystenemia and factor V Leiden mutation, presenting with life threatening bilateral pulmonary embolism. The clinical implications of combined thrombophilia are also discussed.
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29203653/rapid-diagnostic-testing-platform-for-iron-and-vitamin-a-deficiency
#11
Zhengda Lu, Dakota O'Dell, Balaji Srinivasan, Elizabeth Rey, Ruisheng Wang, Sasank Vemulapati, Saurabh Mehta, David Erickson
Micronutrient deficiencies such as those of vitamin A and iron affect a third of the world's population with consequences such as night blindness, higher child mortality, anemia, poor pregnancy outcomes, and reduced work capacity. Many efforts to prevent or treat these deficiencies are hampered by the lack of adequate, accessible, and affordable diagnostic methods that can enable better targeting of interventions. In this work, we demonstrate a rapid diagnostic test and mobile enabled platform for simultaneously quantifying iron (ferritin), vitamin A (retinol-binding protein), and inflammation (C-reactive protein) status...
December 4, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29203476/ucp1-deficiency-increases-adipose-tissue-monounsaturated-fatty-acid-synthesis-and-trafficking-to-the-liver
#12
Laura M Bond, James M Ntambi
Uncoupling protein-1 (UCP1) facilitates thermogenesis in brown and beige adipocytes and can promote energy expenditure by decreasing mitochondrial respiratory efficiency. Defects in UCP1 and brown adipose tissue thermogenesis subject animals to chronic cold stress and elicit compensatory responses to generate heat. How UCP1 regulates white adipose tissue (WAT) lipid biology and tissue crosstalk is not completely understood. Here, we probe the effect of UCP1 deficiency on fatty acid metabolism in inguinal and epididymal WAT and investigate how these metabolic perturbations influence hepatic lipid homeostasis...
December 3, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/29202480/differential-impact-of-rb-status-on-e2f1-reprogramming-in-human-cancer
#13
Christopher McNair, Kexin Xu, Amy C Mandigo, Matteo Benelli, Benjamin Leiby, Daniel Rodrigues, Johan Lindberg, Henrik Gronberg, Mateus Crespo, Bram De Laere, Luc Dirix, Tapio Visakorpi, Fugen Li, Felix Y Feng, Johann de Bono, Francesca Demichelis, Mark A Rubin, Myles Brown, Karen E Knudsen
The tumor suppressor protein retinoblastoma (RB) is mechanistically linked to suppression of transcription factor E2F1-mediated cell cycle regulation. For multiple tumor types, loss of RB function is associated with poor clinical outcome. RB action is abrogated either by direct depletion or through inactivation of RB function; however, the basis for this selectivity is unknown. Here, analysis of tumor samples and cell-free DNA from patients with advanced prostate cancer showed that direct RB loss was the preferred pathway of disruption in human disease...
December 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29202451/akt3-inhibits-adipogenesis-and-protects-from-diet-induced-obesity-via-signaling-pathway
#14
Liang Ding, Lifang Zhang, Sudipta Biswas, Rebecca C Schugar, J Mark Brown, Tatiana Byzova, Eugene Podrez
Three Akt isoforms, encoded by 3 separate genes, are expressed in mammals. While the roles of Akt1 and Akt2 in metabolism are well established, it is not yet known whether Akt3 plays a role in metabolic diseases. We now report that Akt3 protects mice from high-fat diet-induced obesity by suppressing an alternative pathway of adipogenesis via with no lysine protein kinase-1 (WNK1) and serum/glucocorticoid-inducible kinase 1 (SGK1). We demonstrate that Akt3 specifically phosphorylates WNK1 at T58 and promotes its degradation via the ubiquitin-proteasome pathway...
November 16, 2017: JCI Insight
https://www.readbyqxmd.com/read/29201953/concurrent-hand-and-penile-gangrene-following-prolonged-warfarin-use-a-case-report
#15
Fatemeh Mahdizadeh, Saeed Safari
Warfarin induced skin necrosis (WISN) is a rare but important side effect of warfarin. Early diagnosis may lessen the amount of permanent tissue damage and can prevent progression to full thickness skin necrosis. So, physicians should be aware of such a complication. Screening for protein C or S or anti-thrombin deficiencies, or presence of anti-phospholipid antibodies before beginning warfarin therapy, could be helpful to avoid high levels of international normalized ratio (INR). Here, we report a 54-year-old man who presented to the emergency department with acral and penile gangrene following prolonged use of warfarin...
2017: Emergency (Tehran, Iran)
https://www.readbyqxmd.com/read/29201860/modulating-host-signaling-pathways-to-promote-resistance-to-infection-by-candida-albicans
#16
REVIEW
Nick Carpino, Shamoon Naseem, David M Frank, James B Konopka
Candida albicans is a common human fungal pathogen capable of causing serious systemic infections that can progress to become lethal. Current therapeutic approaches have limited effectiveness, especially once a systemic infection is established, in part due to the lack of an effective immune response. Boosting the immune response to C. albicans has been the goal of immunotherapy, but it has to be done selectively to prevent deleterious hyperinflammation (sepsis). Although an efficient inflammatory response is necessary to fight infection, the typical response to C...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29196218/stress-induced-hippocampus-npas4-mrna-expression-relates-to-specific-psychophysiological-patterns-in-stress-response
#17
Jean-Baptiste Drouet, André Peinnequin, Patrice Faure, Josiane Denis, Nadine Fidier, Renaud Maury, Alain Buguet, Raymond Cespuglio, Frédéric Canini
Neuronal Per-Arnt-Sim (PAS) domain protein4 (Npas4) is a key protein that intervenes in GABA synapse scaling and neurotrophicity enhancing. Since GABA and neurotrophicity are implicated in stress response and Npas4-deficient rodents exhibit behavioral alterations, an investigation was designed in rats to verify whether stress-induced spontaneous hippocampus Npas4 mRNA expression would be associated with specific patterns of stress response. The rats were exposed to one of three stressor levels: no stress (CTL, n=15), exposure to a footshock apparatus (Sham, S, n=40) and footshock (F, n=80)...
November 28, 2017: Brain Research
https://www.readbyqxmd.com/read/29194833/mutations-in-coq8b-adck4-found-in-patients-with-steroid-resistant-nephrotic-syndrome-alter-coq8b-function
#18
Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J Acosta, Cristina Cerqua, Matteo Cassina, Shazia Ashraf, Friedhelm Hildebrandt, Geppo Sartori, Placido Navas, Eva Trevisson, Leonardo Salviati
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralogue genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that COQ8B is a mitochondrial matrix protein peripherally associated with the inner membrane. COQ8B can complement a ΔCOQ8 yeast strain when its mitochondrial targeting sequence (MTS) is replaced by a yeast MTS...
December 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/29193847/genetic-loss-of-diazepam-binding-inhibitor-in-mice-impairs-social-interest
#19
A L Ujjainwala, C D Courtney, S G Rhoads, J S Rhodes, C A Christian
Neuropsychiatric disorders in which reduced social interest is a common symptom, such as autism, depression, and anxiety, are frequently associated with genetic mutations affecting GABAergic transmission. Benzodiazepine treatment, acting via GABAA receptors, improves social interaction in male mouse models with autism-like features. The protein diazepam binding inhibitor (DBI) can act as an endogenous benzodiazepine, but a role for DBI in social behavior has not been described. Here we investigated the role of DBI in the social interest and recognition behavior of mice...
November 28, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29193663/clinical-and-genetic-characterization-of-ap4b1-associated-spg47
#20
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families...
November 28, 2017: American Journal of Medical Genetics. Part A
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