BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 28676232)

  • 1. MHC class II deficiency: Report of a novel mutation and special review.
    Farrokhi S; Shabani M; Aryan Z; Zoghi S; Krolo A; Boztug K; Rezaei N
    Allergol Immunopathol (Madr); 2018; 46(3):263-275. PubMed ID: 28676232
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.
    Villard J; Lisowska-Grospierre B; van den Elsen P; Fischer A; Reith W; Mach B
    N Engl J Med; 1997 Sep; 337(11):748-53. PubMed ID: 9287230
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
    Mousavi Khorshidi MS; Seeleuthner Y; Chavoshzadeh Z; Behfar M; Hamidieh AA; Alimadadi H; Sherkat R; Momen T; Behniafard N; Eskandarzadeh S; Mansouri M; Behnam M; Mahdavi M; Heydarazad Zadeh M; Shokri M; Alizadeh F; Movahedi M; Momenilandi M; Keramatipour M; Casanova JL; Cobat A; Abel L; Shahrooei M; Parvaneh N
    J Clin Immunol; 2023 Nov; 43(8):1941-1952. PubMed ID: 37584719
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.
    El Hawary RE; Mauracher AA; Meshaal SS; Eldash A; Abd Elaziz DS; Alkady R; Lotfy S; Opitz L; Galal NM; Boutros JA; Pachlopnik Schmid J; Elmarsafy AM
    J Allergy Clin Immunol Pract; 2019 Mar; 7(3):856-863. PubMed ID: 30170160
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
    Masternak K; Barras E; Zufferey M; Conrad B; Corthals G; Aebersold R; Sanchez JC; Hochstrasser DF; Mach B; Reith W
    Nat Genet; 1998 Nov; 20(3):273-7. PubMed ID: 9806546
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Direct genetic correction as a new method for diagnosis and molecular characterization of MHC class II deficiency.
    Matheux F; Ikinciogullari A; Zapata DA; Barras E; Zufferey M; Dogu F; Regueiro JR; Reith W; Villard J
    Mol Ther; 2002 Dec; 6(6):824-9. PubMed ID: 12498778
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MHC class I and II deficiencies.
    Hanna S; Etzioni A
    J Allergy Clin Immunol; 2014 Aug; 134(2):269-75. PubMed ID: 25001848
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
    Wiszniewski W; Fondaneche MC; Lambert N; Masternak K; Picard C; Notarangelo L; Schwartz K; Bal J; Reith W; Alcaide C; de Saint Basile G; Fischer A; Lisowska-Grospierre B
    Immunogenetics; 2000 Apr; 51(4-5):261-7. PubMed ID: 10803838
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.
    Cai YQ; Zhang H; Wang XZ; Xu C; Chao YQ; Shu Y; Tang LF
    Open Forum Infect Dis; 2020 Aug; 7(8):ofaa314. PubMed ID: 32875002
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.
    Prod'homme T; Dekel B; Barbieri G; Lisowska-Grospierre B; Katz R; Charron D; Alcaide-Loridan C; Pollack S
    Immunogenetics; 2003 Nov; 55(8):530-9. PubMed ID: 14574520
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.
    Naamane H; El Maataoui O; Ailal F; Barakat A; Bennani S; Najib J; Hassar M; Saile R; Bousfiha AA
    Eur J Pediatr; 2010 Sep; 169(9):1069-74. PubMed ID: 20414676
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India.
    Aluri J; Gupta M; Dalvi A; Mhatre S; Kulkarni M; Hule G; Desai M; Shah N; Taur P; Vedam R; Madkaikar M
    Front Immunol; 2018; 9():188. PubMed ID: 29527204
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.
    Dziembowska M; Fondaneche MC; Vedrenne J; Barbieri G; Wiszniewski W; Picard C; Cant AJ; Steimle V; Charron D; Alca-Loridan C; Fischer A; Lisowska-Grospierre B
    Immunogenetics; 2002 Feb; 53(10-11):821-9. PubMed ID: 11862382
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular genetics of the Bare lymphocyte syndrome.
    Masternak K; Muhlethaler-Mottet A; Villard J; Peretti M; Reith W
    Rev Immunogenet; 2000; 2(2):267-82. PubMed ID: 11258423
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.
    Schmetterer KG; Seidel MG; Körmöczi U; Rottal A; Schwarz K; Matthes-Martin S; Steinberger P; Pickl WF
    Int Arch Allergy Immunol; 2010; 152(4):390-400. PubMed ID: 20197681
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
    Wiszniewski W; Fondaneche MC; Louise-Plence P; Prochnicka-Chalufour A; Selz F; Picard C; Le Deist F; Eliaou JF; Fischer A; Lisowska-Grospierre B
    Immunogenetics; 2003 Feb; 54(11):747-55. PubMed ID: 12618906
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
    Ouederni M; Vincent QB; Frange P; Touzot F; Scerra S; Bejaoui M; Bousfiha A; Levy Y; Lisowska-Grospierre B; Canioni D; Bruneau J; Debré M; Blanche S; Abel L; Casanova JL; Fischer A; Picard C
    Blood; 2011 Nov; 118(19):5108-18. PubMed ID: 21908431
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients.
    Ben-Mustapha I; Ben-Farhat K; Guirat-Dhouib N; Dhemaied E; Larguèche B; Ben-Ali M; Chemli J; Bouguila J; Ben-Mansour L; Mellouli F; Khemiri M; Béjaoui M; Barbouche MR
    J Clin Immunol; 2013 May; 33(4):865-70. PubMed ID: 23314770
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
    Peijnenburg A; Van Eggermond MC; Van den Berg R; Sanal O; Vossen JM; Van den Elsen PJ
    Immunogenetics; 1999 Apr; 49(4):338-45. PubMed ID: 10079298
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.
    Krawczyk M; Masternak K; Zufferey M; Barras E; Reith W
    Mol Cell Biol; 2005 Oct; 25(19):8607-18. PubMed ID: 16166641
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.