These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

407 related articles for article (PubMed ID: 24995871)

  • 1. Aicardi-Goutières syndrome is caused by IFIH1 mutations.
    Oda H; Nakagawa K; Abe J; Awaya T; Funabiki M; Hijikata A; Nishikomori R; Funatsuka M; Ohshima Y; Sugawara Y; Yasumi T; Kato H; Shirai T; Ohara O; Fujita T; Heike T
    Am J Hum Genet; 2014 Jul; 95(1):121-5. PubMed ID: 24995871
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
    Diamond J
    Clin Genet; 2014 Nov; 86(5):473-4. PubMed ID: 25080300
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
    Lu M; Zhu K; Zheng Q; Ma X; Zou L
    Am J Med Genet A; 2021 Oct; 185(10):3146-3152. PubMed ID: 34189822
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
    Rice GI; Del Toro Duany Y; Jenkinson EM; Forte GM; Anderson BH; Ariaudo G; Bader-Meunier B; Baildam EM; Battini R; Beresford MW; Casarano M; Chouchane M; Cimaz R; Collins AE; Cordeiro NJ; Dale RC; Davidson JE; De Waele L; Desguerre I; Faivre L; Fazzi E; Isidor B; Lagae L; Latchman 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
    Nat Genet; 2014 May; 46(5):503-509. PubMed ID: 24686847
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
    Crow YJ; Chase DS; Lowenstein Schmidt J; Szynkiewicz M; Forte GM; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman G; Abdel-Hamid MS; Abdel-Salam GM; Ackroyd S; Aeby A; Agosta G; Albin C; Allon-Shalev S; Arellano M; Ariaudo G; Aswani V; Babul-Hirji R; Baildam EM; Bahi-Buisson N; Bailey KM; Barnerias C; Barth M; Battini R; Beresford MW; Bernard G; Bianchi M; Billette de Villemeur T; Blair EM; Bloom M; Burlina AB; Carpanelli ML; Carvalho DR; Castro-Gago M; Cavallini A; Cereda C; Chandler KE; Chitayat DA; Collins AE; Sierra Corcoles C; Cordeiro NJ; Crichiutti G; Dabydeen L; Dale RC; D'Arrigo S; De Goede CG; De Laet C; De Waele LM; Denzler I; Desguerre I; Devriendt K; Di Rocco M; Fahey MC; Fazzi E; Ferrie CD; Figueiredo A; Gener B; Goizet C; Gowrinathan NR; Gowrishankar K; Hanrahan D; Isidor B; Kara B; Khan N; King MD; Kirk EP; Kumar R; Lagae L; Landrieu P; Lauffer H; Laugel V; La Piana R; Lim MJ; Lin JP; Linnankivi T; Mackay MT; Marom DR; Marques Lourenço C; McKee SA; Moroni I; Morton JE; Moutard ML; Murray K; Nabbout R; Nampoothiri S; Nunez-Enamorado N; Oades PJ; Olivieri I; Ostergaard JR; Pérez-Dueñas B; Prendiville JS; Ramesh V; Rasmussen M; Régal L; Ricci F; Rio M; Rodriguez D; Roubertie A; Salvatici E; Segers KA; Sinha GP; Soler D; Spiegel R; Stödberg TI; Straussberg R; Swoboda KJ; Suri M; Tacke U; Tan TY; te Water Naude J; Wee Teik K; Thomas MM; Till M; Tonduti D; Valente EM; Van Coster RN; van der Knaap MS; Vassallo G; Vijzelaar R; Vogt J; Wallace GB; Wassmer E; Webb HJ; Whitehouse WP; Whitney RN; Zaki MS; Zuberi SM; Livingston JH; Rozenberg F; Lebon P; Vanderver A; Orcesi S; Rice GI
    Am J Med Genet A; 2015 Feb; 167A(2):296-312. PubMed ID: 25604658
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Neuropathological Findings in a Case of
    Gilani A; Adang LA; Vanderver A; Collins A; Kleinschmidt-DeMasters BK
    Pediatr Dev Pathol; 2019; 22(6):566-570. PubMed ID: 30952201
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.
    Masneri S; Lanzi G; Ferraro RM; Barisani C; Piovani G; Savio G; Cattalini M; Galli J; Cereda C; Muzi-Falconi M; Orcesi S; Fazzi E; Giliani S
    Stem Cell Res; 2019 Dec; 41():101623. PubMed ID: 31698194
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neuromyelitis optica in a child with Aicardi-Goutières syndrome.
    Hacohen Y; Zuberi S; Vincent A; Crow YJ; Cordeiro N
    Neurology; 2015 Jul; 85(4):381-3. PubMed ID: 26136517
    [No Abstract]   [Full Text] [Related]  

  • 12. [Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].
    Florido-Rodriguez A; Eiris-Punal J; Barros-Angueira F; Toledo-Bravo de Laguna L; Santana-Artiles A; Sebastian-Garcia I; Santana-Rodriguez A; Cabrera-Lopez JC
    Rev Neurol; 2016 Oct; 63(7):309-14. PubMed ID: 27658362
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
    Bamborschke D; Kreutzer M; Koy A; Koerber F; Lucas N; Huenseler C; Herkenrath P; Lee-Kirsch MA; Cirak S
    Brain Dev; 2021 Feb; 43(2):320-324. PubMed ID: 33158637
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
    Livingston JH; Crow YJ
    Neuropediatrics; 2016 Dec; 47(6):355-360. PubMed ID: 27643693
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
    Abe J; Nakamura K; Nishikomori R; Kato M; Mitsuiki N; Izawa K; Awaya T; Kawai T; Yasumi T; Toyoshima I; Hasegawa K; Ohshima Y; Hiragi T; Sasahara Y; Suzuki Y; Kikuchi M; Osaka H; Ohya T; Ninomiya S; Fujikawa S; Akasaka M; Iwata N; Kawakita A; Funatsuka M; Shintaku H; Ohara O; Ichinose H; Heike T
    Rheumatology (Oxford); 2014 Mar; 53(3):448-58. PubMed ID: 24300241
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MDA5 and autoimmune disease.
    Miner JJ; Diamond MS
    Nat Genet; 2014 May; 46(5):418-9. PubMed ID: 24769716
    [No Abstract]   [Full Text] [Related]  

  • 17. Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
    Musalem HM; Dirar QS; Al-Hazzaa SAF; Al Zoba AA; El-Mansoury J
    Am J Case Rep; 2018 Apr; 19():500-504. PubMed ID: 29703882
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Aicardi-Goutières syndrome-like encephalitis in mutant mice with constitutively active MDA5.
    Onizawa H; Kato H; Kimura H; Kudo T; Soda N; Shimizu S; Funabiki M; Yagi Y; Nakamoto Y; Priller J; Nishikomori R; Heike T; Yan N; Tsujimura T; Mimori T; Fujita T
    Int Immunol; 2021 Mar; 33(4):225-240. PubMed ID: 33165593
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.
    Guo X; Wiley CA; Steinman RA; Sheng Y; Ji B; Wang J; Zhang L; Wang T; Zenatai M; Billiar TR; Wang Q
    J Neuroinflammation; 2021 Jul; 18(1):169. PubMed ID: 34332594
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
    Rice GI; Park S; Gavazzi F; Adang LA; Ayuk LA; Van Eyck L; Seabra L; Barrea C; Battini R; Belot A; Berg S; Billette de Villemeur T; Bley AE; Blumkin L; Boespflug-Tanguy O; Briggs TA; Brimble E; Dale RC; Darin N; Debray FG; De Giorgis V; Denecke J; Doummar D; Drake Af Hagelsrum G; Eleftheriou D; Estienne M; Fazzi E; Feillet F; Galli J; Hartog N; Harvengt J; Heron B; Heron D; Kelly DA; Lev D; Levrat V; Livingston JH; Marti I; Mignot C; Mochel F; Nougues MC; Oppermann I; Pérez-Dueñas B; Popp B; Rodero MP; Rodriguez D; Saletti V; Sharpe C; Tonduti D; Vadlamani G; Van Haren K; Tomas Vila M; Vogt J; Wassmer E; Wiedemann A; Wilson CJ; Zerem A; Zweier C; Zuberi SM; Orcesi S; Vanderver AL; Hur S; Crow YJ
    Hum Mutat; 2020 Apr; 41(4):837-849. PubMed ID: 31898846
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.