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https://www.readbyqxmd.com/read/29782060/autosomal-dominant-early-onset-spastic-paraparesis-with-brain-calcification-due-to-ifih1-gain-of-function
#1
Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification in all symptomatic family members. A marked upregulation of interferon stimulated gene (ISG) transcripts was recorded in all three affected individuals and in two clinically unaffected relatives...
May 21, 2018: Human Mutation
https://www.readbyqxmd.com/read/29753657/irf-1-rig-i-and-mda5-display-potent-antiviral-activities-against-norovirus-coordinately-induced-by-different-types-of-interferons
#2
Wen Dang, Lei Xu, Yuebang Yin, Sunrui Chen, Wenshi Wang, Mohamad S Hakim, Kyeong-Ok Chang, Maikel P Peppelenbosch, Qiuwei Pan
Norovirus represents the main cause of acute nonbacterial gastroenteritis worldwide. In immunocompromised patients, it bears high risk of causing chronic infection with significant morbidity and mortality. The lack of specific treatment prompts the development of anti-norovirus agents. In this study, we have investigated the role of interferon (IFN) response and evaluated antiviral activities of different IFNs against human norovirus (HuNoV) replication using a HuNoV replicon model. We found that HuNoV RNA replication was sensitive to all types of IFNs, including IFNα (type I), IFNγ (type II), IFNλ1 and 3 (type III)...
May 10, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29740948/astrocytes-an-active-player-in-aicardi-gouti%C3%A3-res-syndrome
#3
Sunetra Sase, Asako Takanohashi, Adeline Vanderver, Akshata Almad
Aicardi-Goutières syndrome (AGS) is an early-onset, autoimmune and genetically heterogeneous disorder with severe neurologic injury. Molecular studies have established that autosomal recessive mutations in one of the following genes are causative: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1 and IFIH1/MDA5. The phenotypic presentation and pathophysiology of AGS is associated with over-production of the cytokine Interferon-alpha (IFN-α) and its downstream signaling, characterized as type I interferonopathy...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29703882/unusual-association-of-aniridia-with-aicardi-gouti%C3%A3-res-syndrome-related-congenital-glaucoma-in-a-tertiary-care-center
#4
Hebah M Musalem, Qais S Dirar, Selwa A F Al-Hazzaa, Abdul-Aziz A Al Zoba, Jeylan El-Mansoury
BACKGROUND Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive encephalopathy of early onset. AGS visual dysfunction range from nystagmus and optic atrophy to cortical blindness in affected individuals; however, congenital glaucoma has been recently noticed among AGS pediatric patients. According to the literature, aniridia has never been recognized among AGS patients. CASE REPORT We report the case of a 4-year-old boy with AGS who had multiple congenital anomalies in the eyes. He was found to have congenital glaucoma, nystagmus, spherophakia with shallow chambers, and aniridia in both eyes...
April 28, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29691411/analysis-of-predicted-loss-of-function-variants-in-uk-biobank-identifies-variants-protective-for-disease
#5
Connor A Emdin, Amit V Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M Zekavat, Akihiro Nomura, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H Lichtman, Gail D'Onofrio, Jennifer Mattera, John A Spertus, Wayne H-H Sheu, Kent D Taylor, Bruce M Psaty, Stephen S Rich, Wendy Post, Jerome I Rotter, Yii-Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan
Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) variants provide insight into effector transcript and direction of biological effect. In >400,000 UK Biobank participants, we conduct association analyses of 3759 pLOF variants with six metabolic traits, six cardiometabolic diseases, and twelve additional diseases...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29688572/enhanced-expression-of-ifi16-and-rig-i-in-human-third-trimester-placentas-following-hsv-1-infection
#6
Agnieszka Jabłońska, Mirosława Studzińska, Patrycja Suski, Jarosław Kalinka, Edyta Paradowska
The innate immune response in the placenta depends on the ability of maternal immune cells and fetal trophoblast cells to detect and eliminate invading pathogens through germline-encoded pattern recognition receptors (PRRs). In the present study, we analyzed the transcripts and protein expression of IFI16, MDA5, RIG-I, and TLR3 in third-trimester human placentas and investigated cytokine profiles generated during herpes simplex type 1 (HSV-1) infection. Decidual and chorionic villous biopsies (38-42 week of gestation) were obtained from healthy women immediately after a cesarean section...
April 24, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29567028/analysis-of-host-toll-like-receptor-3-and-rig-i-like-receptor-gene-expression-in-patients-with-abdominal-aortic-aneurysm
#7
Agnieszka Jabłońska, Christoph Neumayer, Michael Bolliger, Bernd Gollackner, Markus Klinger, Edyta Paradowska, Josif Nanobachvili, Ihor Huk
OBJECTIVE: Abdominal aortic aneurysm (AAA) is a vascular disease relatively common in the elderly population. Although some events that contribute to the development and progression of AAA are known, there are limited data examining the association of Toll-like receptor 3 (TLR3) and RIG-I-like receptor expression with the pathogenesis of AAAs. In this study, we investigated the gene and protein expression of TLR3 and RIG-I-like receptors (RIG-I and MDA5) in aortic wall and blood of AAA patients and examined the relationship between their expression and immune response...
March 19, 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29346494/novel-myopia-genes-and-pathways-identified-from-syndromic-forms-of-myopia
#8
D Ian Flitcroft, James Loughman, Christine F Wildsoet, Cathy Williams, Jeremy A Guggenheim
Purpose: To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. Methods: Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29321238/an-open-label-trial-of-jak-1-2-blockade-in-progressive-ifih1-associated-neuroinflammation
#9
Kavitha Kothur, Sushil Bandodkar, Stephanie Chu, Louise Wienholt, Alexandra Johnson, Peter Barclay, Paul A Brogan, Gillian I Rice, Yanick J Crow, Russell C Dale
No abstract text is available yet for this article.
February 6, 2018: Neurology
https://www.readbyqxmd.com/read/29321042/type-i-ifn-signature-in-childhood-onset-systemic-lupus-erythematosus-a-conspiracy-of-dna-and-rna-sensing-receptors
#10
M Javad Wahadat, Iris L A Bodewes, Naomi I Maria, Cornelia G van Helden-Meeuwsen, Annette van Dijk-Hummelman, Eline C Steenwijk, Sylvia Kamphuis, Marjan A Versnel
BACKGROUND: Childhood-onset systemic lupus erythematosus (cSLE) is an incurable multi-systemic autoimmune disease. Interferon type I (IFN-I) plays a pivotal role in the pathogenesis of SLE. The objective of this study was to assess the prevalence of the IFN-I signature and the contribution of cytosolic nucleic acid receptors to IFN-I activation in a cohort of primarily white cSLE patients. METHODS: The IFN-I score (positive or negative), as a measure of IFN-I activation, was assessed using real-time quantitative PCR (RT-PCR) expression values of IFN-I signature genes (IFI44, IFI44L, IFIT1, Ly6e, MxA, IFITM1) in CD14+ monocytes of cSLE patients and healthy controls (HCs)...
January 10, 2018: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/29247698/pathway-analysis-of-global-gene-expression-change-in-dendritic-cells-induced-by-the-polysaccharide-from-the-roots-of-actinidia-eriantha
#11
Jing Du, Xiangfeng Chen, Chenying Wang, Hongxiang Sun
ETHNOPHARMACOLOGICAL RELEVANCE: The roots of Actinidia eriantha Benth have been used clinically to treat a variety of cancers in traditional Chinese medicine. The polysaccharide from this drug (AEPS) was previously reported to be a potential antitumor agent with immunomodulatory activity. However, the mechanisms of its antitumor action in immunomodulation have not yet been well-defined. AIM OF THE STUDY: To investigate the effects of AEPS on the phenotypic and functional maturation of dendritic cells and to explore the intracellular signaling mechanisms of its antitumor action in the immunomodulation...
March 25, 2018: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29239743/phenotypic-and-molecular-spectrum-of-aicardi-gouti%C3%A3-res-syndrome-a-study-of-24-patients
#12
Fuad Al Mutairi, Majid Alfadhel, Marwan Nashabat, Ayman W El-Hattab, Tawfeg Ben-Omran, Jozef Hertecant, Wafaa Eyaid, Rehab Ali, Ali Alasmari, Majdi Kara, Waleed Al-Twaijri, Rana Filimban, Abduljabbar Alshenqiti, Mohammed Al-Owain, Eissa Faqeih, Fowzan S Alkuraya
BACKGROUND: Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable clinical manifestations. Molecular detection of specific mutations is required to confirm the diagnosis. The aim of this study was to review the clinical and molecular diagnostic findings in 24 individuals with Aicardi-Goutières syndrome who presented during childhood in an Arab population. MATERIALS AND METHODS: We reviewed the records of 24 patients from six tertiary hospitals in different Arab countries...
January 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29198037/gene-expression-profile-and-long-non-coding-rna-analysis-using-rna-seq-in-chicken-embryonic-fibroblast-cells-infected-by-avian-leukosis-virus-j
#13
Xuming Hu, Shihao Chen, Chongxin Jia, Songlei Xue, Chunfeng Dou, Zhenqing Dai, Hui Xu, Zhen Sun, Tuoyu Geng, Hengmi Cui
Avian leukosis virus J (ALVJ) infection induces hematopoietic malignancy in myeloid leukemia and hemangioma in chickens. However, little is known about the mechanisms underpinning the unique pathogenesis of ALVJ. In this study, we investigated the gene expression profiles of ALVJ-infected chicken cells and performed a comprehensive analysis of the long non-coding RNAs (lncRNAs) in CEF cells using RNA-Seq. As a result, 36 differentially expressed lncRNAs and 91 genes (FC > 2 and q-values < 0.05) were identified...
March 2018: Archives of Virology
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#14
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
December 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29144398/predict-the-relationship-between-gene-and-large-yellow-croaker-s-economic-traits
#15
Xiangxiang Zeng, Shuting Jin, Jin Jiang, Kunhuang Han, Xiaoping Min, Xiangrong Liu
The importance of a gene's impact on traits is well appreciated. Gene expression will affect the growth, immunity, reproduction and environmental resistance of some fish, and then affect the economic performance of fish-related business. Studying the connection between gene and character can help elucidate the growth of fishes. Thus far, a collected database containing large yellow croaker (Larimichthys crocea) genes does not exist. The gene having to do with the growth efficiency of fish will have a huge impact on research...
November 16, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29121875/effect-of-short-term-diet-restriction-on-gene-expression-in-the-bovine-hypothalamus-using-next-generation-rna-sequencing-technology
#16
Daragh Matthews, Michael G Diskin, David A Kenny, Christopher J Creevey, Kate Keogh, Sinead M Waters
BACKGROUND: Negative energy balance (NEB) is an imbalance between energy intake and energy requirements for lactation and body maintenance affecting high-yielding dairy cows and is of considerable economic importance due to its negative impact on fertility and health in dairy herds. It is anticipated that the cow hypothalamus experiences extensive biochemical changes during the early post partum period in an effort to re-establish metabolic homeostasis. However, there is variation in the tolerance to NEB between individual cows...
November 9, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29100097/monogenic-lupus-it-s-all-new
#17
REVIEW
Patricia Costa-Reis, Kathleen E Sullivan
Monogenic lupus is rare, but its study has contributed immensely to a better understanding of the pathogenesis of systemic lupus erythematosus. The first forms identified were inherited complement deficiencies, which predisposed to lupus due to impaired tolerance, and aberrant clearance of apoptotic bodies and immune complexes. In recent years, several new monogenic disorders with a lupus-like phenotype have been described. These include forms that affect nucleic acid repair, degradation and sensing (TREX1, DNASE1L3), the type I interferon (IFN) pathway (SAMHD1, RNASEH2ABC, ADAR1, IFIH1, ISG15, ACP5, TMEM173) and B cell development checkpoints (PRKCD; RAG2)...
December 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/29066255/comparative-analysis-of-microbial-sensing-molecules-in-mucosal-tissues-with-aging
#18
O A Gonzalez, S Kirakodu, M J Novak, A J Stromberg, L Orraca, J Gonzalez-Martinez, A Burgos, J L Ebersole
Host-bacterial interactions at mucosal surfaces require recognition of the bacteria by host cells enabling targeted responses to maintain tissue homeostasis. It is now well recognized that an array of host-derived pattern recognition receptors (PRRs), both cell-bound and soluble, are critical to innate immune engagement of microbes via microbial-associated molecular patterns (MAMP). This report describes the use of a nonhuman primate model to evaluate changes in the expression of these sensing molecules related to aging in healthy gingival tissues...
March 2018: Immunobiology
https://www.readbyqxmd.com/read/29066169/genotypes-of-ifih1-and-ifit5-in-seven-chicken-breeds-indicated-artificial-selection-for-commercial-traits-influenced-antiviral-genes
#19
Jing-Jing Li, Ye Wang, Chao-Wu Yang, Jin-Shan Ran, Xiao-Song Jiang, Hua-Rui Du, Yao-Dong Hu, Yi-Ping Liu
Innate immunity is the first line against the invasion of pathogenic microorganisms. Previous reports only demonstrated production traits of commercial importance were often negatively correlated with innate disease resistance. However, whether different purpose of artificial selection influences innate immunity have not been understood. In this study, we cloned exon1, exon6 of IFIH1 and exon2 of IFIT5 by molecular biology techniques in seven different chicken breeds to detect the potential effect of artificial selection for commercial traits on disease resistance for the first time...
December 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29018476/recurrent-and-prolonged-infections-in-a-child-with-a-homozygous-ifih1-nonsense-mutation
#20
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH , c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient's microcephaly, severe psychomotor retardation, seizures and cataracts. However, she additionally suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization, suggesting a secondary, predisposing and potentially Mendelian, condition...
2017: Frontiers in Genetics
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