BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

355 related articles for article (PubMed ID: 26514428)

  • 1. A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
    Martinez-Martinez L; Martinez-Saavedra MT; Fuentes-Prior P; Barnadas M; Rubiales MV; Noda J; Badell I; Rodríguez-Gallego C; de la Calle-Martin O
    Mol Immunol; 2015 Dec; 68(2 Pt C):597-605. PubMed ID: 26514428
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
    Liu L; Okada S; Kong XF; Kreins AY; Cypowyj S; Abhyankar A; Toubiana J; Itan Y; Audry M; Nitschke P; Masson C; Toth B; Flatot J; Migaud M; Chrabieh M; Kochetkov T; Bolze A; Borghesi A; Toulon A; Hiller J; Eyerich S; Eyerich K; Gulácsy V; Chernyshova L; Chernyshov V; Bondarenko A; Grimaldo RM; Blancas-Galicia L; Beas IM; Roesler J; Magdorf K; Engelhard D; Thumerelle C; Burgel PR; Hoernes M; Drexel B; Seger R; Kusuma T; Jansson AF; Sawalle-Belohradsky J; Belohradsky B; Jouanguy E; Bustamante J; Bué M; Karin N; Wildbaum G; Bodemer C; Lortholary O; Fischer A; Blanche S; Al-Muhsen S; Reichenbach J; Kobayashi M; Rosales FE; Lozano CT; Kilic SS; Oleastro M; Etzioni A; Traidl-Hoffmann C; Renner ED; Abel L; Picard C; Maródi L; Boisson-Dupuis S; Puel A; Casanova JL
    J Exp Med; 2011 Aug; 208(8):1635-48. PubMed ID: 21727188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
    Yamazaki Y; Yamada M; Kawai T; Morio T; Onodera M; Ueki M; Watanabe N; Takada H; Takezaki S; Chida N; Kobayashi I; Ariga T
    J Immunol; 2014 Nov; 193(10):4880-7. PubMed ID: 25288569
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of two STAT1 gain-of-function mutations in two Iranian families with autosomal dominant chronic mucocutaneous candidiasis.
    Ostadi V; Sherkat R; Migaud M; Modaressadeghi SM; Casanova JL; Puel A; Nekooie-Marnany N; Ganjalikhani-Hakemi M
    Med Mycol; 2021 Feb; 59(2):180-188. PubMed ID: 32526033
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel
    Erdős M; Jakobicz E; Soltész B; Tóth B; Bata-Csörgő Z; Maródi L
    Front Immunol; 2020; 11():967. PubMed ID: 32547544
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
    Soltész B; Tóth B; Shabashova N; Bondarenko A; Okada S; Cypowyj S; Abhyankar A; Csorba G; Taskó S; Sarkadi AK; Méhes L; Rozsíval P; Neumann D; Chernyshova L; Tulassay Z; Puel A; Casanova JL; Sediva A; Litzman J; Maródi L
    J Med Genet; 2013 Sep; 50(9):567-78. PubMed ID: 23709754
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
    Depner M; Fuchs S; Raabe J; Frede N; Glocker C; Doffinger R; Gkrania-Klotsas E; Kumararatne D; Atkinson TP; Schroeder HW; Niehues T; Dückers G; Stray-Pedersen A; Baumann U; Schmidt R; Franco JL; Orrego J; Ben-Shoshan M; McCusker C; Jacob CM; Carneiro-Sampaio M; Devlin LA; Edgar JD; Henderson P; Russell RK; Skytte AB; Seneviratne SL; Wanders J; Stauss H; Meyts I; Moens L; Jesenak M; Kobbe R; Borte S; Borte M; Wright DA; Hagin D; Torgerson TR; Grimbacher B
    J Clin Immunol; 2016 Jan; 36(1):73-84. PubMed ID: 26604104
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
    Bloomfield M; Kanderová V; Paračková Z; Vrabcová P; Svatoň M; Froňková E; Fejtková M; Zachová R; Rataj M; Zentsová I; Milota T; Klocperk A; Kalina T; Šedivá A
    J Clin Immunol; 2018 Jul; 38(5):589-601. PubMed ID: 29934865
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
    Tabellini G; Vairo D; Scomodon O; Tamassia N; Ferraro RM; Patrizi O; Gasperini S; Soresina A; Giardino G; Pignata C; Lougaris V; Plebani A; Dotta L; Cassatella MA; Parolini S; Badolato R
    J Allergy Clin Immunol; 2017 Aug; 140(2):553-564.e4. PubMed ID: 28069426
    [TBL] [Abstract][Full Text] [Related]  

  • 10. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.
    Smeekens SP; Plantinga TS; van de Veerdonk FL; Heinhuis B; Hoischen A; Joosten LA; Arkwright PD; Gennery A; Kullberg BJ; Veltman JA; Lilic D; van der Meer JW; Netea MG
    PLoS One; 2011; 6(12):e29248. PubMed ID: 22195034
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Human STAT1 Gain-of-Function Mutation Impairs CD8
    Qian W; Miner CA; Ingle H; Platt DJ; Baldridge MT; Miner JJ
    J Virol; 2019 Oct; 93(19):. PubMed ID: 31315996
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.
    Blanco Lobo P; Lei WT; Pelham SJ; Guisado Hernández P; Villaoslada I; de Felipe B; Lucena JM; Casanova JL; Olbrich P; Puel A; Neth O
    Pediatr Allergy Immunol; 2021 Nov; 32(8):1804-1812. PubMed ID: 34289170
    [TBL] [Abstract][Full Text] [Related]  

  • 13. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.
    van de Veerdonk FL; Plantinga TS; Hoischen A; Smeekens SP; Joosten LA; Gilissen C; Arts P; Rosentul DC; Carmichael AJ; Smits-van der Graaf CA; Kullberg BJ; van der Meer JW; Lilic D; Veltman JA; Netea MG
    N Engl J Med; 2011 Jul; 365(1):54-61. PubMed ID: 21714643
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.
    Hori T; Ohnishi H; Teramoto T; Tsubouchi K; Naiki T; Hirose Y; Ohara O; Seishima M; Kaneko H; Fukao T; Kondo N
    J Clin Immunol; 2012 Dec; 32(6):1213-20. PubMed ID: 22847544
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
    Takezaki S; Yamada M; Kato M; Park MJ; Maruyama K; Yamazaki Y; Chida N; Ohara O; Kobayashi I; Ariga T
    J Immunol; 2012 Aug; 189(3):1521-6. PubMed ID: 22730530
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).
    Zheng J; van de Veerdonk FL; Crossland KL; Smeekens SP; Chan CM; Al Shehri T; Abinun M; Gennery AR; Mann J; Lendrem DW; Netea MG; Rowan AD; Lilic D
    Eur J Immunol; 2015 Oct; 45(10):2834-46. PubMed ID: 26255980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.
    Eslami N; Tavakol M; Mesdaghi M; Gharegozlou M; Casanova JL; Puel A; Okada S; Arshi S; Bemanian MH; Fallahpour M; Molatefi R; Seif F; Zoghi S; Rezaei N; Nabavi M
    Acta Microbiol Immunol Hung; 2017 Jun; 64(2):191-201. PubMed ID: 28597685
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.
    Wang X; Zhao W; Chen F; Zhou P; Yan Z
    Mycopathologia; 2023 Apr; 188(1-2):87-97. PubMed ID: 36335528
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.
    Baris S; Alroqi F; Kiykim A; Karakoc-Aydiner E; Ogulur I; Ozen A; Charbonnier LM; Bakır M; Boztug K; Chatila TA; Barlan IB
    J Clin Immunol; 2016 Oct; 36(7):641-8. PubMed ID: 27379765
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
    Tsumura M; Okada S; Sakai H; Yasunaga S; Ohtsubo M; Murata T; Obata H; Yasumi T; Kong XF; Abhyankar A; Heike T; Nakahata T; Nishikomori R; Al-Muhsen S; Boisson-Dupuis S; Casanova JL; Alzahrani M; Shehri MA; Elghazali G; Takihara Y; Kobayashi M
    Hum Mutat; 2012 Sep; 33(9):1377-87. PubMed ID: 22573496
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.