Gain of function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Autor: Rice, Gi, Del Toro Duany, Y, Jenkinson, Em, Forte, Gm, Anderson, Bh, Ariaudo, G, Bader-Meunier, B, Baildm, Em, Battini, R, Beresford, Mw, Casarano, M, Chouchane, M, Cimaz, R, Collins, Ae, Cordeiro, Nj, Dale, Rc, Davidson, Je, Waelel, De, Desguerre, I, Faivre, L, Fazzi, E, Isidor, B, Lagae, L, Larchman, Ar, Lebon, P, Li, C, Livingston, Jh, Lourenço, Cm, Mancardi, Mm, Masurel-Paulet, A, Mcinnes, Ib, Menezes, Mp, Mignot, C, O'Sullivan, J, Orcesi, S, Picco, Pp, Riva, E, Robinson, Ra, Rodriguez, D, Salvatici, E, Scott, C, Szybowska, M, Tolmie, Jl, Vanderver, A, Vanhulle, C, Vieira, Jp, Webb, K, Whitney, Rn, Williams, Sg, Wolfe, La, Zuberi, Sm, Hur, S, Crow, Yj

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3728::6511a69cdd6ee2ca56e9c531cb27d106
http://hdl.handle.net/11568/951205

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Autor: Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK., Del Toro Duany Y; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.; Boston Children's Hospital, Boston, MA 02115, USA., Jenkinson EM; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK., Forte GM; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK., Anderson BH; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK., Ariaudo G; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.; Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy., Bader-Meunier B; Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France., Baildam EM; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy., Beresford MW; Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Casarano M; Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy., Chouchane M; Service de Pédiatrie 1, CHU de Dijon, Dijon, France., Cimaz R; AOU Meyer and University of Florence, Italy., Collins AE; Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine, USA., Cordeiro NJ; Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland, UK., Dale RC; Neuroimmunology group, the Children's Hospital at Westmead, University of Sydney, Australia., Davidson JE; Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, UK., De Waele L; Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Desguerre I; Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France., Faivre L; Centre de Génétique, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France., Fazzi E; Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia, Italy., Isidor B; Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes, France., Lagae L; Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Latchman AR; Division of General Pediatrics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada., Lebon P; Université et Faculté de Medecine Paris Descartes, Paris, France., Li C; Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Canada., Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Lourenço CM; Clinics Hospital of Ribeirao Preto, University of São Paulo, Brasil., Mancardi MM; O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa, Italy., Masurel-Paulet A; Centre de Génétique, Hôpital d'Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France., McInnes IB; Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow, UK., Menezes MP; Institute for Neuroscience and Muscle Research, the Children's Hospital at Westmead, University of Sydney, Australia., Mignot C; AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris, France., O'Sullivan J; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK., Orcesi S; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy., Picco PP; Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy., Riva E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy., Robinson RA; Department of Neurology, Great Ormond Street Hospital for Children, London, UK., Rodriguez D; AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris, France.; UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris, France., Salvatici E; Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy., Scott C; University of Cape Town, Red Cross War Memorial Children's Hospital, Republic of South Africa., Szybowska M; Department of Pediatrics, Clinical Genetics Program, McMaster Children's Hospital, McMaster University, Hamilton, Canada., Tolmie JL; Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland, UK., Vanderver A; Department of Paediatric Neurology, Children's National Medical Center, Washington DC, USA., Vanhulle C; Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen, France., Vieira JP; Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal., Webb K; University of Cape Town, Red Cross War Memorial Children's Hospital, Republic of South Africa., Whitney RN; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada., Williams SG; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK., Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA., Zuberi SM; Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK.; School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, UK., Hur S; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.; Boston Children's Hospital, Boston, MA 02115, USA., Crow YJ; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK.

Publikováno v: Nature genetics [Nat Genet] 2014 May; Vol. 46 (5), pp. 503-509. Date of Electronic Publication: 2014 Mar 30.

RNA sensor MDA5 suppresses LINE-1 retrotransposition by regulating the promoter activity of LINE-1 5′-UTR.

Autor: Yan, Jiaxiu^1,2,3 (AUTHOR), Zhao, Yifei¹ (AUTHOR), Du, Juan^1,4,5 (AUTHOR), Wang, Yu¹ (AUTHOR), Wang, Shaohua¹ (AUTHOR), Wang, Qing^1,6 (AUTHOR), Zhao, Xu^1,7 (AUTHOR), Xu, Wei³ (AUTHOR) xu_w@jlu.edu.cn, Zhao, Ke^1,4,5 (AUTHOR) zhaoke@jlu.edu.cn

Publikováno v: Mobile DNA. 4/12/2022, Vol. 13 Issue 1, p1-16. 16p.

Evidence supporting wound care end points relevant to clinical practice and patients' lives. Part 2. Literature survey.

Autor: Driver, Vickie R.^1,2 drvdriver@aol.com, Gould, Lisa J.^1,3, Dotson, Peggy⁴, Allen, Latricia L.⁵, Carter, Marissa J.⁶, Bolton, Laura L.⁷

Publikováno v: Wound Repair & Regeneration. Jan2019, Vol. 27 Issue 1, p80-89. 10p.

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Autor: Jafarpour, Saba, Banerjee, Abhik, Boyd, Natalie K., Vogel, Benjamin N., Paulsen, Kelli C., Ahsan, Nusrat, Mitchell, Wendy G., Jeste, Shafali S., Santoro, Jonathan D.

Publikováno v: Journal of Neurology; Dec2022, Vol. 269 Issue 12, p6512-6529, 18p