198 related articles for article (PubMed ID: 28605144)
1. Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM; Ngoumou G; Park JW; Ehmke N; Deigendesch N; Kitabayashi N; Melki I; Souza FFL; Tzschach A; Nogueira-Barbosa MH; Ferriani V; Louzada-Junior P; Marques W; Lourenço CM; Horn D; Kallinich T; Stenzel W; Hur S; Rice GI; Crow YJ
Arthritis Rheumatol; 2017 Oct; 69(10):2081-2091. PubMed ID: 28605144
[TBL] [Abstract][Full Text] [Related]
2. MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I; Rice GI; Crow YJ; Rutsch F
J Interferon Cytokine Res; 2017 May; 37(5):214-219. PubMed ID: 28475458
[TBL] [Abstract][Full Text] [Related]
3. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
Bursztejn AC; Briggs TA; del Toro Duany Y; Anderson BH; O'Sullivan J; Williams SG; Bodemer C; Fraitag S; Gebhard F; Leheup B; Lemelle I; Oojageer A; Raffo E; Schmitt E; Rice GI; Hur S; Crow YJ
Br J Dermatol; 2015 Dec; 173(6):1505-13. PubMed ID: 26284909
[TBL] [Abstract][Full Text] [Related]
4. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
Rutsch F; MacDougall M; Lu C; Buers I; Mamaeva O; Nitschke Y; Rice GI; Erlandsen H; Kehl HG; Thiele H; Nürnberg P; Höhne W; Crow YJ; Feigenbaum A; Hennekam RC
Am J Hum Genet; 2015 Feb; 96(2):275-82. PubMed ID: 25620204
[TBL] [Abstract][Full Text] [Related]
5. DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR; Crow YJ; Gahl WA; Gardner PJ; Goldbach-Mansky R; Hur S; de Jesús AA; Nehrebecky M; Park JW; Briggs TA
J Clin Immunol; 2019 Jan; 39(1):75-80. PubMed ID: 30574673
[TBL] [Abstract][Full Text] [Related]
6. A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
Vengoechea J; DiMonda J
Am J Med Genet A; 2020 Jun; 182(6):1535-1536. PubMed ID: 32202700
[No Abstract] [Full Text] [Related]
7. Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.
Gosu V; Sasidharan S; Saudagar P; Lee HK; Shin D
Biomolecules; 2021 Aug; 11(8):. PubMed ID: 34439917
[TBL] [Abstract][Full Text] [Related]
8. A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.
Takeichi T; Katayama C; Tanaka T; Okuno Y; Murakami N; Kono M; Sugiura K; Aoyama Y; Akiyama M
Br J Dermatol; 2018 Feb; 178(2):e111-e113. PubMed ID: 29270977
[No Abstract] [Full Text] [Related]
9. Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid BM; Nordgren A; Lindstrand A
Am J Med Genet A; 2017 May; 173(5):1396-1399. PubMed ID: 28319323
[TBL] [Abstract][Full Text] [Related]
10. R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
Raghuraman P; Sudandiradoss C
J Biomol Struct Dyn; 2019 Feb; 37(3):750-765. PubMed ID: 29429386
[TBL] [Abstract][Full Text] [Related]
11. Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
Jang MA; Kim EK; Now H; Nguyen NT; Kim WJ; Yoo JY; Lee J; Jeong YM; Kim CH; Kim OH; Sohn S; Nam SH; Hong Y; Lee YS; Chang SA; Jang SY; Kim JW; Lee MS; Lim SY; Sung KS; Park KT; Kim BJ; Lee JH; Kim DK; Kee C; Ki CS
Am J Hum Genet; 2015 Feb; 96(2):266-74. PubMed ID: 25620203
[TBL] [Abstract][Full Text] [Related]
12. Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.
Soda N; Sakai N; Kato H; Takami M; Fujita T
J Immunol; 2019 Sep; 203(5):1356-1368. PubMed ID: 31366715
[TBL] [Abstract][Full Text] [Related]
13. Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Broser P; von Mengershausen U; Heldt K; Bartholdi D; Braun D; Wolf C; Lee-Kirsch MA
Pediatr Rheumatol Online J; 2022 Apr; 20(1):24. PubMed ID: 35410415
[TBL] [Abstract][Full Text] [Related]
14. Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.
Feigenbaum A; Müller C; Yale C; Kleinheinz J; Jezewski P; Kehl HG; MacDougall M; Rutsch F; Hennekam RC
Am J Med Genet A; 2013 Feb; 161A(2):360-70. PubMed ID: 23322711
[TBL] [Abstract][Full Text] [Related]
15. Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants.
Lässig C; Lammens K; Gorenflos López JL; Michalski S; Fettscher O; Hopfner KP
Elife; 2018 Jul; 7():. PubMed ID: 30047865
[TBL] [Abstract][Full Text] [Related]
16. Singleton-Merten syndrome: A rare cause of femoral head necrosis.
Assaf E; Bdeir M; Mohs E; Dally FJ; Gravius S; Weis CA; Darwich A
Am J Med Genet A; 2021 Oct; 185(10):3170-3175. PubMed ID: 34189824
[TBL] [Abstract][Full Text] [Related]
17. Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y; Rutsch F
Curr Osteoporos Rep; 2017 Aug; 15(4):255-270. PubMed ID: 28585220
[TBL] [Abstract][Full Text] [Related]
18. Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.
Abu Tayeh A; Funabiki M; Shimizu S; Satoh S; Sumin L; Iwakura Y; Kato H; Fujita T
Int Immunol; 2021 Mar; 33(4):211-224. PubMed ID: 33119735
[TBL] [Abstract][Full Text] [Related]
19. Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation.
Lu C; Mamaeva OA; Cui C; Amm H; Rutsch F; MacDougall M
Connect Tissue Res; 2014 Aug; 55 Suppl 1():57-61. PubMed ID: 25158182
[TBL] [Abstract][Full Text] [Related]
20. A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutières syndrome.
Hasegawa K; Tanaka H; Futagawa N; Miyahara H; Higuchi Y; Tsukahara H
Am J Med Genet A; 2022 Jan; 188(1):249-252. PubMed ID: 34453469
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
