Works matching DE "AICARDI-Goutieres syndrome"

Results: 77

Interferon- α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 774, doi. 10.1002/acn3.213

By:

Klok, Melanie D.;
Bakels, Hannah S.;
Postma, Nienke L.;
Spaendonk, Rosalina M. L.;
Knaap, Marjo S.;
Bugiani, Marianna

Publication type:

Article

Sources of Pathogenic Nucleic Acids in Systemic Lupus Erythematosus.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01028

By:

Mustelin, Tomas;
Lood, Christian;
Giltiay, Natalia V.

Publication type:

Article

Aicardi‐Goutières syndrome: cold‐induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus.

Published in:

2018

By:

Singh, S.;
Taneja, N.;
Bala, P.;
Verma, K. K.;
Devarajan, L. S. J.

Publication type:

Case Study

Recurrent chilblains in a child with neurological impairment.

Published in:

2018

By:

Mohandas, P.;
Bowker, R.;
Ravenscroft, J.;
Bleiker, T.

Publication type:

Case Study

The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation.

Published in:

Mobile DNA, 2018, v. 9, p. 1, doi. 10.1186/s13100-018-0116-5

By:

Herrmann, Alexandra;
Wittmann, Sabine;
Thomas, Dominique;
Shepard, Caitlin N.;
Kim, Baek;
Ferreirós, Nerea;
Gramberg, Thomas

Publication type:

Article

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Published in:

Acta Paediatrica, 2012, v. 101, n. 11, p. e509, doi. 10.1111/j.1651-2227.2012.02807.x

By:

Ostergaard, Elsebet;
Joensen, Frodi;
Sundberg, Karin;
Duno, Morten;
Hansen, Flemming J;
Batbayli, Mustafa;
Sørensen, Nicolina;
Born, Alfred Peter

Publication type:

Article

Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Published in:

2018

By:

Tonduti, Davide;
Panteghini, Celeste;
Pichiecchio, Anna;
Decio, Alice;
Carecchio, Miryam;
Reale, Chiara;
Moroni, Isabella;
Nardocci, Nardo;
Campistol, Jaume;
Garcia-Cazorla, Angela;
Perez Duenas, Belen;
Chiapparini, Luisa;
Garavaglia, Barbara;
Orcesi, Simona;
Cerebral Calcification International Study Group

Publication type:

journal article

Astrocytes, an active player in Aicardi–Goutières syndrome.

Published in:

Brain Pathology, 2018, v. 28, n. 3, p. 399, doi. 10.1111/bpa.12600

By:

Sase, Sunetra;
Takanohashi, Asako;
Vanderver, Adeline;
Almad, Akshata

Publication type:

Article

The ribonuclease activity of SAMHD1 is required for HIV-1 restriction.

Published in:

Nature Medicine, 2014, v. 20, n. 8, p. 936, doi. 10.1038/nm.3626

By:

Ryoo, Jeongmin;
Choi, Jongsu;
Oh, Changhoon;
Kim, Sungchul;
Seo, Minji;
Kim, Seok-Young;
Seo, Daekwan;
Kim, Jongkyu;
White, Tommy E;
Brandariz-Nuñez, Alberto;
Diaz-Griffero, Felipe;
Yun, Cheol-Heui;
Hollenbaugh, Joseph A;
Kim, Baek;
Baek, Daehyun;
Ahn, Kwangseog

Publication type:

Article

STING-mediated autoinflammatory disease.

Published in:

Nature Genetics, 2014, v. 46, n. 9, p. 933, doi. 10.1038/ng.3082

By:

Vogan, Kyle

Publication type:

Article

Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.

Published in:

Fetal & Pediatric Pathology, 2018, v. 37, n. 1, p. 15, doi. 10.1080/15513815.2017.1388456

By:

Sun, Yan;
Hu, Xuyun;
Song, Jiqing;
Hu, Yanyan;
Liu, Caihong;
Li, Guimei

Publication type:

Article

Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy.

Published in:

2019

By:

Meesilpavikkai, Kornvalee;
Dik, Willem A.;
Schrijver, Benjamin;
Helden‐Meeuwsen, Cornelia G.;
Versnel, Marjan A.;
Hagen, P. Martin;
Bijlsma, Emilia K.;
Ruivenkamp, Claudia A. L.;
Oele, Margreet J.;
Dalm, Virgil A. S. H.

Publication type:

Case Study

Inhibition of Cyclic GMP‐AMP Synthase Using a Novel Antimalarial Drug Derivative in Trex1‐Deficient Mice.

Published in:

Arthritis & Rheumatology, 2018, v. 70, n. 11, p. 1807, doi. 10.1002/art.40559

By:

An, Jie;
Woodward, Joshua J.;
Lai, Weinan;
Minie, Mark;
Sun, Xizhang;
Tanaka, Lena;
Snyder, Jessica M.;
Sasaki, Tomikazu;
Elkon, Keith B.

Publication type:

Article

Aicardi‐Goutières syndrome with muscle involvement in early infancy.

Published in:

Neuropathology & Applied Neurobiology, 2018, v. 44, n. 7, p. 737, doi. 10.1111/nan.12454

By:

Deigendesch, N.;
Morales‐Gonzalez, S.;
Weschke, B.;
Goebel, H.‐H.;
Schuelke, M.;
Stenzel, W.

Publication type:

Article

Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 612, doi. 10.1111/dmcn.12359

By:

Livingston, John H;
Stivaros, Stavros;
Warren, Dan;
Crow, Yanick J

Publication type:

Article

RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid- Mediated Autoinflammation.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00587

By:

Bartsch, Kareen;
Damme, Markus;
Regen, Tommy;
Becker, Lore;
Garrett, Lillian;
Hölter, Sabine M;
Knittler, Katharina;
Borowski, Christopher;
Waisman, Ari;
Glatzel, Markus;
Fuchs, Helmut;
Gailus-Durner, Valerie;
Hrabe de Angelis, Martin;
Rabe, Björn

Publication type:

Article

Current perspectives on mechanisms of ribonucleotide incorporation and processing in mammalian DNA.

Published in:

Genes & Environment, 2019, v. 41, n. 1, p. N.PAG, doi. 10.1186/s41021-019-0118-7

By:

Sassa, Akira;
Yasui, Manabu;
Honma, Masamitsu

Publication type:

Article

Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.

Published in:

Iranian Journal of Child Neurology, 2024, v. 18, n. 3, p. 117, doi. 10.22037/ijcn.v18i3.43274

By:

Tasharrofi, Behnoosh;
Karimzadeh, Parvaneh;
Asadollahi, Mostafa;
Hasani, Sepideh;
Heidari, Morteza;
Keramatipour, Mohammad

Publication type:

Article

Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 5, p. 473, doi. 10.1111/cge.12471

By:

Diamond, J.

Publication type:

Article

From The Archives.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 5, doi. 10.1093/brain/aws347

By:

Compston, Alastair

Publication type:

Article

Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi–Goutières syndrome.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 245, doi. 10.1093/brain/aws321

By:

Cuadrado, Eloy;
Jansen, Machiel H.;
Anink, Jasper;
De Filippis, Lidia;
Vescovi, Angelo L.;
Watts, Colin;
Aronica, Eleonora;
Hol, Elly M.;
Kuijpers, Taco W.

Publication type:

Article

Aicardi-Goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection.

Published in:

2013

By:

Ramesh, Venkateswari;
Sankar, Janani;
Gowrishankar, Kalpana;
Ganapathy, Kumaresan

Publication type:

Letter

Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.

Published in:

Asian Journal of Neurosurgery, 2017, v. 12, n. 3, p. 541, doi. 10.4103/1793-5482.145162

By:

Patnaik, Ashis;
Mishra, Sudhansu Sekhar;
Das, Srikanta

Publication type:

Article

Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.

Published in:

American Journal of Case Reports, 2018, v. 19, p. 500, doi. 10.12659/AJCR.908036

By:

Musalem, Hebah M.;
Dirar, Qais S.;
Al-Hazzaa, Selwa A. F.;
Al Zoba, Abdul-Aziz A.;
El-Mansoury, Jeylan

Publication type:

Article

Leukodystrophies with Intracranial Calcifications.

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 16

By:

MAHVELATI SHAMSABADI, Farhad

Publication type:

Article

Microglial Interferon Signaling and White Matter.

Published in:

Neurochemical Research, 2017, v. 42, n. 9, p. 2625, doi. 10.1007/s11064-017-2307-8

By:

McDonough, Ashley;
Lee, Richard;
Weinstein, Jonathan

Publication type:

Article

Aicardi–Goutières syndrome: Brief case report.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 88, doi. 10.4103/JPN.JPN_67_17

By:

Moscote-Salazar, Luis;
Calderon-Miranda, Willem;
Deluquez Baute, Ray;
Agrawal, Amit;
Satyarthee, Guru;
Maraby-Salgado, Johana;
Padilla-Zambrano, Huber;
Lopez-Cepeda, Daniela;
Pacheco-Hernandez, Alfonso;
Joaquim, Andrei

Publication type:

Article

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.

Published in:

Turkish Journal of Pediatrics, 2015, v. 57, n. 5, p. 504

By:

Uyur-Yalçın, Emek;
Maraş-Genç, Hülya;
Kara, Bülent

Publication type:

Article

Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome.

Published in:

Clinical & Developmental Immunology, 2012, p. 1, doi. 10.1155/2012/206730

By:

Schmidt, Johanna L.;
Olivieri, Ivana;
Vento, Jodie M.;
Fazzi, Elisa;
Gordish-Dressman, Heather;
Orcesi, Simona;
Vanderver, Adeline

Publication type:

Article

Error in Reported Baricitinib Dose in the Article by Meesilpavikkai et al (Arthritis Rheumatol, May 2019).

Published in:: 2020
Publication type:: Correction Notice

CTLA4Ig Improves Murine iTreg Induction via TGF and Suppressor Function .

Published in:

2018

By:

Pilat, Nina;
Mahr, Benedikt;
Gattringer, Martina;
Baranyi, Ulrike;
Wekerle, Thomas

Publication type:

journal article

Nephrological problems in a child with Aicardi-Goutières syndrome.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 4, p. 369, doi. 10.5114/POLP.2024.146392

By:

Piejak, Małgorzata;
Hus, Zuzanna;
Bujanowicz, Adam;
Skrzypczyk, Piotr;
Samotyjek, Joanna;
Jurkiewicz, Beata;
Szymanik-Grzelak, Hanna;
Furmanek, Mariusz I.;
Pańczyk-Tomaszewska, Małgorzata

Publication type:

Article

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 413, doi. 10.1172/JCI78001

By:

Gunther, Claudia;
Kind, Barbara;
Reijns, Martin A. M.;
Berndt, Nicole;
Martinez-Bueno, Manuel;
Wolf, Christine;
Tüngler, Victoria;
Chara, Osvaldo;
Young Ae Lee;
Hübner, Norbert;
Bicknell, Louise;
Blum, Sophia;
Krug, Claudia;
Schmidt, Franziska;
Kretschmer, Stefanie;
Koss, Sarah;
Astell, Katy R.;
Ramantani, Georgia;
Bauerfeind, Anja;
Morris, David L.

Publication type:

Article

AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 102, doi. 10.1172/jci78533

By:

Pendergraft III, William F.;
Means, Terry K.

Publication type:

Article

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.

Published in:

Lupus, 2013, v. 22, n. 6, p. 639, doi. 10.1177/0961203313486950

By:

Troedson, C;
Wong, M;
Dalby-Payne, J;
Wilson, M;
Dexter, M;
Rice, GI;
Crow, YJ;
Dale, RC

Publication type:

Article

ID3 may protect mice from anti-GBM glomerulonephritis by regulating the differentiation of Th17 and Treg cells.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9086, doi. 10.3892/mmr.2017.7724

By:

HUAN ZHOU;
LE WANG;
QING XU;
QINGQUAN LIU;
HUI LIU;
WENHUI QIU;
TINGYANG HU;
YONGMAN LV;
QIAN ZHANG

Publication type:

Article

The genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8793, doi. 10.3892/mmr.2017.7733

By:

ZERVOU, MARIA I.;
DIMOPOULOU, DESPOINA G.;
ELIOPOULOS, ELIAS;
TRACHANA, MARIA;
PRATSIDOU-GKERTSI, POLYXENI;
ANDREOU, ATHENA;
SIDIROPOULOS, PRODROMOS;
SPANDIDOS, DEMETRIOS A.;
GARYFALLOS, ALEXANDROS;
GOULIELMOS, GEORGE N.

Publication type:

Article

Early-Onset Aicardi-Goutières Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 10, p. 1343, doi. 10.1177/0883073814562252

By:

Vanderver, Adeline;
Prust, Morgan;
Kadom, Nadja;
Demarest, Scott;
Crow, Yanick J.;
Helman, Guy;
Orcesi, Simona;
Piana, Roberta La;
Uggetti, Carla;
Wang, Jichuan;
Gordisch-Dressman, Heather;
van der Knaap, Marjo S.;
Livingston, John H.

Publication type:

Article

A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation.

Published in:

2015

By:

Straussberg, Rachel;
Marom, Daphna;
Sanado-Inbar, Esther;
Lakovsky, Yaniv;
Horev, Gadi;
Shalev, Stavit A.;
Lev, Dorit;
Lerman-Sagie, Tally;
Leshinsky-Silver, Esther

Publication type:

Case Study

Synaptopathies: synaptic dysfunction in neurological disorders - A review written by students for students, and a story of success for ISN schools.

Published in:

2016

By:

Schulz, Jörg B.;
Hausmann, Laura

Publication type:

Editorial

Molecular dynamics characterization of the SAMHD1 Aicardi-Goutières Arg145Gln mutant: structural determinants for the impaired tetramerization.

Published in:

Journal of Computer-Aided Molecular Design, 2018, v. 32, n. 5, p. 623, doi. 10.1007/s10822-018-0115-0

By:

Cardamone, Francesca;
Falconi, Mattia;
Desideri, Alessandro

Publication type:

Article

Aicardi- Goutières syndrome: a model disease for systemic autoimmunity.

Published in:

Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 17, doi. 10.1111/cei.12160

By:

Lee‐Kirsch, M. A.;
Wolf, C.;
Günther, C.

Publication type:

Article

Mouse models for Aicardi- Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.

Published in:

Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 9, doi. 10.1111/cei.12147

By:

Behrendt, R.;
Roers, A.

Publication type:

Article

Therapies in Aicardi- Goutières syndrome.

Published in:

Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 1, doi. 10.1111/cei.12115

By:

Crow, Y. J.;
Vanderver, A.;
Orcesi, S.;
Kuijpers, T. W.;
Rice, G. I.

Publication type:

Article

Type I Interferonopathies in Childhood.

Published in:

Balkan Medical Journal, 2023, v. 40, n. 3, p. 165, doi. 10.4274/balkanmedj.galenos.2023.2023-4-78

By:

Haşlak, Fatih;
Könte, Elif Kılıç;
Aslan, Esma;
Şahin, Sezgin;
Kasapçopur, Özgür

Publication type:

Article

Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome.

Published in:

Balkan Medical Journal, 2013, v. 30, n. 3, p. 321, doi. 10.5152/balkanmedj.2013.6960

By:

Berk, Derya;
Kuş, Alparslan;
Şahin, Tülay;
Solak, Mine;
Toker, Kamil

Publication type:

Article

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.

Published in:

Journal of Reproduction & Infertility, 2022, n. 2, p. 135, doi. 10.18502/jri.v23i2.8999

By:

Sehrish, Iram;
Sunitha, Tella;
Srilekha, Avvari;
Gupta, Aayushi;
Nallari, Pratibha;
Venkateshwari, Ananthapur

Publication type:

Article

Aicardi-Goutières syndrome and the type I interferonopathies.

Published in:

Nature Reviews Immunology, 2015, v. 15, n. 7, p. 429, doi. 10.1038/nri3850

By:

Crow, Yanick J.;
Manel, Nicolas

Publication type:

Article

SAMHD1 MUTATIONS ARE ALSO RESPONSIBLE FOR AICARDI-GOUTIÈRES IN THE CREE POPULATION.

Published in:

2017

By:

Kharrat, Ashraf;
MacKenzie, Jennifer;
Venkateswaran, Sunita

Publication type:

Letter to the Editor

Cochlear impairment and autoimmune ear disorder in a patient with breast cancer.

Published in:

Audiology Research, 2017, v. 7, n. 1, p. 23, doi. 10.4081/audiores.2017.165

By:

Fioretti, Alessandra;
Di Rubbo, Vittoria;
Peri, Giorgia;
Vitti, Elisa;
Cisternino, Sara;
Varakliotis, Theodoros;
Eibenstein, Alberto

Publication type:

Article