Breaking News
April 23, 2018 - Eating fish could prevent Parkinson’s disease
April 23, 2018 - Key factor in development of Parkinson’s disease identified
April 23, 2018 - Higher consumption of fish linked to better neurological health
April 23, 2018 - Genevac announces HT Series 3 evaporators with Inert Gas Purge option
April 23, 2018 - Researchers clarify immune response for patients with breast cancer brain metastases
April 23, 2018 - Polypharmacy More Likely for Cancer Survivors
April 23, 2018 - Obesity is shifting cancer to young adults
April 23, 2018 - Scientists illustrate role of novel chromosomal mutations in fosfomycin resistance
April 23, 2018 - Newly developed drug compound may help treat Charcot-Marie-Tooth disease
April 23, 2018 - Marriage Means ‘I Do’ for Skin Cancer Detection
April 23, 2018 - Freezing hunger-signaling nerve may help ignite weight loss
April 23, 2018 - Wear exoskeletons with caution for heavy lifting, researchers say
April 23, 2018 - Research offers new hope for healing wounds in patients with diabetes
April 23, 2018 - Shorter courses of radiotherapy found to be safe, effective for prostate cancer patients
April 23, 2018 - Scientists use CRISPR tool to make multiple edits to DNA samples ‘in vitro’
April 23, 2018 - Knee reconstructions are on the rise among the youth in Australia
April 23, 2018 - Artificial sweeteners linked to obesity warn researchers
April 23, 2018 - CDC seeking $400 million to replace lab for deadliest germs
April 23, 2018 - Sensirion to present single-use liquid flow sensor at COMPAMED 2017
April 23, 2018 - FDA approves contact lenses that shade the sun
April 22, 2018 - Concussion recovery and symptom severity found to vary between men and women
April 22, 2018 - C. Difficile Risk Higher With Stoma Reversal Versus Colectomy
April 22, 2018 - Repeated ranibizumab doesn’t impair macular perfusion
April 22, 2018 - New microscope reveals how cells behave in 3D and real time inside living organisms
April 22, 2018 - Study shows clinical benefit and monetary gains of weight-loss surgery
April 22, 2018 - GNA Biosolutions launches world’s first Laser PCR platform at Medica Trade Fair
April 22, 2018 - Researchers present simulation model to investigate hospital responsiveness to mass casualty incidents
April 22, 2018 - Does Pot Really Dull a Teen’s Brain?
April 22, 2018 - Controversial pregnancy test drug shows deformities in zebrafish embryos within hours of exposure
April 22, 2018 - New research partnership makes childbirth safer in Mozambique
April 22, 2018 - Brief bedside visual art intervention reduces pain, anxiety in cancer patients
April 22, 2018 - The memory part of the brain may also hold clues for anxiety and depression
April 22, 2018 - AYOXXA to develop multiplex immunoassay to support treatment of sepsis patients
April 22, 2018 - New Drug Combo Ups Survival in HER2/neu Uterine Serous Cancer
April 22, 2018 - Researchers chart a new way to look at concussion
April 22, 2018 - Every parent needs to know fundamental red flags for autism
April 22, 2018 - Anatotemp expands anatomic dental implant healing abutments with 4Side anti-rotational connection
April 22, 2018 - Gene Twist Can Make Your Blood Pressure Spike From Salt
April 22, 2018 - Study suggests failed osteoarthritis drug could help treat opioid addiction
April 22, 2018 - More Americans aware of growing problem of opioid addiction
April 22, 2018 - KHN’s ‘What the Health?’ Nothing in health care ever goes away
April 22, 2018 - BGS to promote high-quality sterilization services at Health GB in Manchester
April 22, 2018 - New integrated POC tool detects biomarkers of heart failure rapidly and precisely
April 22, 2018 - Direct electrical current can be delivered to nerves for blocking pain signals
April 22, 2018 - Newly Published Phase 2 Study Found Esketamine Demonstrated Significantly Rapid Improvements in Depressive Symptoms and Suicidality
April 22, 2018 - Healthy red blood cells owe their shape to muscle-like structures
April 22, 2018 - Researchers present case study of management of rheumatic mitral regurgitation in woman contemplating pregnancy
April 22, 2018 - New black Porvair Krystal UV Quartz microplates for Circular Dichroism measurements
April 22, 2018 - Advanced flow chemistry modules enhance control of nanoprecipitation
April 22, 2018 - Look! Down in the petri dish! It’s a superplatelet!
April 22, 2018 - Research reveals why people with tetraplegia more likely to suffer from sleep apnea
April 21, 2018 - New non-invasive nerve stimulation may offer relief for people with hand tremor
April 21, 2018 - Smartphone App May Up Medication Adherence in HTN
April 21, 2018 - Western diet depletes artery-protecting immune cells
April 21, 2018 - Excelitas Technologies launches new powerful LED light source for fluorescence microscopy
April 21, 2018 - Academia and high tech companies join forces to increase production capacity for microfluidic systems
April 21, 2018 - Developing cooking skills as young adult may have long-term health benefits
April 21, 2018 - Study compares survival outcomes of different drugs for type 2 diabetes
April 21, 2018 - More Than 40 Percent of Americans Breathe Dirty Air: Report
April 21, 2018 - Obstructive sleep apnea – Genetics Home Reference
April 21, 2018 - More evidence shows exposure to traffic and outdoor air pollution increases risk of asthma
April 21, 2018 - Novel gold nanoparticle technology could guide cancer treatment in real-time
April 21, 2018 - News coverage of Ebola impacted public’s perception on disease and survivors
April 21, 2018 - S.Africa’s DIY battle against HIV
April 21, 2018 - Children with autism have gastrointestinal and immune system deregulation, research finds
April 21, 2018 - Human brain processes sight and sound in the same way, shows study
April 21, 2018 - Evolutionary history of tumor helps predict severity of prostate cancer
April 21, 2018 - Pepper plant metabolizes antibiotic in personal care products
April 21, 2018 - Tradeshow Talks with Integra
April 21, 2018 - EPFL becomes part of Chan Zuckerberg’s project to develop Human Cell Atlas
April 21, 2018 - Pfizer Announces Positive Topline Results From Phase 3 ATTR-ACT Study Of Tafamidis In Patients With Transthyretin Cardiomyopathy
April 21, 2018 - Breaking through the HIV vaccine ‘logjam’
April 21, 2018 - IntelliCyt introduces new QSol buffer to enable robust, consistent sampling
April 21, 2018 - Scientists publish comprehensive lineage tree of whole adult animal in Science journal
April 21, 2018 - Innovative method based on FluidFM technology could revolutionize biological research
April 21, 2018 - Americans world’s biggest TV addicts, watching four hours a day
April 21, 2018 - Investigational drug may help increase protein levels in babies with spinal muscular atrophy
April 21, 2018 - Study shows distinctions between age groups in predicting and responding to stress at home
April 21, 2018 - Aziyo Biologics, BIOTRONIK enter into US co-distribution agreement
April 21, 2018 - Opiate Use Linked to Early Mortality in IBD Patients
MDA5 deficiency – Genetics Home Reference

MDA5 deficiency – Genetics Home Reference

image_pdfDownload PDFimage_print
  • Asgari S, Schlapbach LJ, Anchisi S, Hammer C, Bartha I, Junier T, Mottet-Osman G, Posfay-Barbe KM, Longchamp D, Stocker M, Cordey S, Kaiser L, Riedel T, Kenna T, Long D, Schibler A, Telenti A, Tapparel C, McLaren PJ, Garcin D, Fellay J. Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8342-8347. doi: 10.1073/pnas.1704259114. Epub 2017 Jul 17.

  • Berke IC, Yu X, Modis Y, Egelman EH. MDA5 assembles into a polar helical filament on dsRNA. Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18437-41. doi: 10.1073/pnas.1212186109. Epub 2012 Oct 22.

  • Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.

  • Loo YM, Gale M Jr. Immune signaling by RIG-I-like receptors. Immunity. 2011 May 27;34(5):680-92. doi: 10.1016/j.immuni.2011.05.003. Review.

  • Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ. Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Front Genet. 2017 Sep 22;8:130. doi: 10.3389/fgene.2017.00130. eCollection 2017.

  • Tagged with:

    About author

    Related Articles