360 related articles for article (PubMed ID: 28011069)
1. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R; Fujiki R; Tsumura M; Sakata S; Nishimura S; Itan Y; Kong XF; Kato Z; Ohnishi H; Hirata O; Saito S; Ikeda M; El Baghdadi J; Bousfiha A; Fujiwara K; Oleastro M; Yancoski J; Perez L; Danielian S; Ailal F; Takada H; Hara T; Puel A; Boisson-Dupuis S; Bustamante J; Casanova JL; Ohara O; Okada S; Kobayashi M
J Allergy Clin Immunol; 2017 Jul; 140(1):232-241. PubMed ID: 28011069
[TBL] [Abstract][Full Text] [Related]
2. Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W; Chen X; Gao G; Xing S; Zhou L; Tang X; Zhao X; An Y
Front Immunol; 2021; 12():654406. PubMed ID: 33777053
[No Abstract] [Full Text] [Related]
3. A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases.
Ueki M; Yamada M; Ito K; Tozawa Y; Morino S; Horikoshi Y; Takada H; Abdrabou SS; Takezaki S; Kobayashi I; Ariga T
Clin Immunol; 2017 Jan; 174():24-31. PubMed ID: 27856304
[TBL] [Abstract][Full Text] [Related]
4. Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants.
Petersen J; Staab J; Bader O; Buhl T; Ivetic A; Meyer T
Mol Immunol; 2019 Oct; 114():30-40. PubMed ID: 31336247
[TBL] [Abstract][Full Text] [Related]
5. The pathogenic T387A missense mutation in the gene encoding signal transducer and activator of transcription 1 exhibits a differential gene expression profile.
Staab J; Schwämmle T; Meyer T
Mol Immunol; 2020 Dec; 128():79-88. PubMed ID: 33096415
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Human T
Zhang Y; Siegel AM; Sun G; Dimaggio T; Freeman AF; Milner JD
J Allergy Clin Immunol; 2019 Mar; 143(3):1108-1118.e4. PubMed ID: 30030006
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S; Asano T; Moriya K; Boisson-Dupuis S; Kobayashi M; Casanova JL; Puel A
J Clin Immunol; 2020 Nov; 40(8):1065-1081. PubMed ID: 32852681
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
Fujiki R; Hijikata A; Shirai T; Okada S; Kobayashi M; Ohara O
J Biol Chem; 2017 Apr; 292(15):6240-6254. PubMed ID: 28258222
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
Leiding JW; Okada S; Hagin D; Abinun M; Shcherbina A; Balashov DN; Kim VHD; Ovadia A; Guthery SL; Pulsipher M; Lilic D; Devlin LA; Christie S; Depner M; Fuchs S; van Royen-Kerkhof A; Lindemans C; Petrovic A; Sullivan KE; Bunin N; Kilic SS; Arpaci F; Calle-Martin O; Martinez-Martinez L; Aldave JC; Kobayashi M; Ohkawa T; Imai K; Iguchi A; Roifman CM; Gennery AR; Slatter M; Ochs HD; Morio T; Torgerson TR;
J Allergy Clin Immunol; 2018 Feb; 141(2):704-717.e5. PubMed ID: 28601685
[TBL] [Abstract][Full Text] [Related]
14. Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Chen X; Chen J; Chen R; Mou H; Sun G; Yang L; Jia Y; Zhao Q; Wen W; Zhou L; Ding Y; Tang X; Yang J; An Y; Zhao X
J Clin Immunol; 2022 Nov; 42(8):1778-1794. PubMed ID: 35976469
[TBL] [Abstract][Full Text] [Related]
15. Gain-of-function STAT1 mutations are associated with intracranial aneurysms.
Dadak M; Jacobs R; Skuljec J; Jirmo AC; Yildiz Ö; Donnerstag F; Baerlecken NT; Schmidt RE; Lanfermann H; Skripuletz T; Schwenkenbecher P; Kleinschnitz C; Tumani H; Stangel M; Pul R
Clin Immunol; 2017 May; 178():79-85. PubMed ID: 28161409
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. STAT1 and STAT3 mutations: important lessons for clinical immunologists.
Olbrich P; Freeman AF
Expert Rev Clin Immunol; 2018 Dec; 14(12):1029-1041. PubMed ID: 30280610
[TBL] [Abstract][Full Text] [Related]
20. Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders.
Consonni F; Dotta L; Todaro F; Vairo D; Badolato R
Curr Opin Pediatr; 2017 Dec; 29(6):711-717. PubMed ID: 28914637
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
