Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

Por Crow, Yanick J., Rehwinkel, Jan
Publicado em 2009

cGMP-AMP synthase paves the way to autoimmunity

Por Rodero, Mathieu P., Crow, Yanick J.
Publicado no Proc Natl Acad Sci U S A (2015)

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

Por Rodero, Mathieu P., Crow, Yanick J.
Publicado no J Exp Med (2016)

Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with SAMHD1 mutations

Por du Moulin, Marcel, Nürnberg, Peter, Crow, Yanick J., Rutsch, Frank
Publicado em 2011

Neuromyelitis optica in a child with Aicardi-GoutiÈres syndrome

Por Hacohen, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J., Cordeiro, Nuno
Publicado no Neurology (2015)

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

Por Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit
Publicado em 2011

A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31

Por Pattison, Lisa, Crow, Yanick J., Deeble, V. Jayne, Jackson, Andrew P., Jafri, Hussain, Rashid, Yasmin, Roberts, Emma, Woods, C. Geoffrey
Publicado em 2000

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

Por Takai, Hiroyuki, Jenkinson, Emma, Kabir, Shaheen, Babul-Hirji, Riyana, Najm-Tehrani, Nasrin, Chitayat, David A., Crow, Yanick J., de Lange, Titia
Publicado no Genes Dev (2016)

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Por Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Publicado em 2014

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Por La Piana, Roberta, Uggetti, Carla, Roncarolo, Federico, Vanderver, Adeline, Olivieri, Ivana, Tonduti, Davide, Helman, Guy, Balottin, Umberto, Fazzi, Elisa, Crow, Yanick J., Livingston, John, Orcesi, Simona
Publicado no Neurology (2016)

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

Por Green, Peter, Wiseman, Matthew, Crow, Yanick J., Houlden, Henry, Riphagen, Shelley, Lin, Jean-Pierre, Raymond, F. Lucy, Childs, Anne-Marie, Sheridan, Eamonn, Edwards, Sian, Josifova, Dragana J.
Publicado em 2010

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

Por Takanohashi, Asako, Prust, Morgan, Wang, Jichuan, Gordish-Dressman, Heather, Bloom, Miriam, Rice, Gillian I., Schmidt, Johanna L., Crow, Yanick J., Lebon, Pierre, Kuijpers, Taco W., Nagaraju, Kanneboyina, Vanderver, Adeline
Publicado em 2013

ADAR1 Facilitates HIV-1 Replication in Primary CD4(+) T Cells

Por Cuadrado, Eloy, Booiman, Thijs, van Hamme, John L., Jansen, Machiel H., van Dort, Karel A., Vanderver, Adeline, Rice, Gillian I., Crow, Yanick J., Kootstra, Neeltje A., Kuijpers, Taco W.
Publicado no PLoS One (2015)

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

Por Rice, Gillian I., Melki, Isabelle, Frémond, Marie-Louise, Briggs, Tracy A., Rodero, Mathieu P., Kitabayashi, Naoki, Oojageer, Anthony, Bader-Meunier, Brigitte, Belot, Alexandre, Bodemer, Christine, Quartier, Pierre, Crow, Yanick J.
Publicado no J Clin Immunol (2016)

SAMHD1-dependent retroviral control and escape in mice

Por Rehwinkel, Jan, Maelfait, Jonathan, Bridgeman, Anne, Rigby, Rachel, Hayward, Bruce, Liberatore, Rachel A, Bieniasz, Paul D, Towers, Greg J, Moita, Luis F, Crow, Yanick J, Bonthron, David T, Reis e Sousa, Caetano
Publicado em 2013

Early onset Aicardi Goutières syndrome: MRI pattern Recognition

Por Vanderver, Adeline, Prust, Morgan, Kadom, Nadja, Demarest, Scott, Crow, Yanick J, Helman, Guy, Orcesi, Simona, La Piana, Roberta, Uggetti, Carla, Wang, Jichuan, Gordisch-Dressman, Heather, van der Knaap, Marjo S, Livingston, John H
Publicado no J Child Neurol (2014)

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Por Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.
Publicado no Am J Hum Genet (2015)

Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

Por Rice, Gillian, Newman, William G., Dean, John, Patrick, Teresa, Parmar, Rekha, Flintoff, Kim, Robins, Peter, Harvey, Scott, Hollis, Thomas, O’Hara, Ann, Herrick, Ariane L., Bowden, Andrew P., Perrino, Fred W., Lindahl, Tomas, Barnes, Deborah E., Crow, Yanick J.
Publicado em 2007

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Por Jackson, Andrew P., Eastwood, Helen, Bell, Sandra M., Adu, Jimi, Toomes, Carmel, Carr, Ian M., Roberts, Emma, Hampshire, Daniel J., Crow, Yanick J., Mighell, Alan J., Karbani, Gulshan, Jafri, Hussain, Rashid, Yasmin, Mueller, Robert F., Markham, Alexander F., Woods, C. Geoffrey
Publicado em 2002

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Por Le Goff, Carine, Morice-Picard, Fanny, Dagoneau, Nathalie, Wang, Lauren W, Perrot, Claire, Crow, Yanick J, Bauer, Florence, Flori, Elisabeth, Prost-Squarcioni, Catherine, Krakow, Deborah, Ge, Gaoxiang, Greenspan, Daniel S, Bonnet, Damien, Le Merrer, Martine, Munnich, Arnold, Apte, Suneel S, Cormier-Daire, Valérie
Publicado em 2008