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 *

157 related articles for article (PubMed ID: 16264331)

  • 1. The range of defects associated with nuclear factor kappaB essential modulator.
    Uzel G
    Curr Opin Allergy Clin Immunol; 2005 Dec; 5(6):513-8. PubMed ID: 16264331
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.
    Orange JS; Jain A; Ballas ZK; Schneider LC; Geha RS; Bonilla FA
    J Allergy Clin Immunol; 2004 Apr; 113(4):725-33. PubMed ID: 15100680
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
    Ohnishi H; Kishimoto Y; Taguchi T; Kawamoto N; Nakama M; Kawai T; Nakayama M; Ohara O; Orii K; Fukao T
    J Clin Immunol; 2017 Aug; 37(6):529-538. PubMed ID: 28702714
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Inherited disorders of human Toll-like receptor signaling: immunological implications.
    Ku CL; Yang K; Bustamante J; Puel A; von Bernuth H; Santos OF; Lawrence T; Chang HH; Al-Mousa H; Picard C; Casanova JL
    Immunol Rev; 2005 Feb; 203():10-20. PubMed ID: 15661018
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
    Courtois G; Smahi A; Reichenbach J; Döffinger R; Cancrini C; Bonnet M; Puel A; Chable-Bessia C; Yamaoka S; Feinberg J; Dupuis-Girod S; Bodemer C; Livadiotti S; Novelli F; Rossi P; Fischer A; Israël A; Munnich A; Le Deist F; Casanova JL
    J Clin Invest; 2003 Oct; 112(7):1108-15. PubMed ID: 14523047
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
    Kawai T; Nishikomori R; Heike T
    Allergol Int; 2012 Jun; 61(2):207-17. PubMed ID: 22635013
    [TBL] [Abstract][Full Text] [Related]  

  • 7. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
    Fusco F; Pescatore A; Conte MI; Mirabelli P; Paciolla M; Esposito E; Lioi MB; Ursini MV
    Int Rev Immunol; 2015; 34(6):445-59. PubMed ID: 26269396
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.
    Ramírez-Alejo N; Alcántara-Montiel JC; Yamazaki-Nakashimada M; Duran-McKinster C; Valenzuela-León P; Rivas-Larrauri F; Cedillo-Barrón L; Hernández-Rivas R; Santos-Argumedo L
    Clin Immunol; 2015 Oct; 160(2):163-71. PubMed ID: 26117626
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
    Orange JS; Levy O; Brodeur SR; Krzewski K; Roy RM; Niemela JE; Fleisher TA; Bonilla FA; Geha RS
    J Allergy Clin Immunol; 2004 Sep; 114(3):650-6. PubMed ID: 15356572
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Inherited disorders of NF-kappaB-mediated immunity in man.
    Puel A; Picard C; Ku CL; Smahi A; Casanova JL
    Curr Opin Immunol; 2004 Feb; 16(1):34-41. PubMed ID: 14734108
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation.
    Vinolo E; Sebban H; Chaffotte A; Israël A; Courtois G; Véron M; Agou F
    J Biol Chem; 2006 Mar; 281(10):6334-48. PubMed ID: 16379012
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
    Döffinger R; Smahi A; Bessia C; Geissmann F; Feinberg J; Durandy A; Bodemer C; Kenwrick S; Dupuis-Girod S; Blanche S; Wood P; Rabia SH; Headon DJ; Overbeek PA; Le Deist F; Holland SM; Belani K; Kumararatne DS; Fischer A; Shapiro R; Conley ME; Reimund E; Kalhoff H; Abinun M; Munnich A; Israël A; Courtois G; Casanova JL
    Nat Genet; 2001 Mar; 27(3):277-85. PubMed ID: 11242109
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
    Zonana J; Elder ME; Schneider LC; Orlow SJ; Moss C; Golabi M; Shapira SK; Farndon PA; Wara DW; Emmal SA; Ferguson BM
    Am J Hum Genet; 2000 Dec; 67(6):1555-62. PubMed ID: 11047757
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
    Niehues T; Reichenbach J; Neubert J; Gudowius S; Puel A; Horneff G; Lainka E; Dirksen U; Schroten H; Döffinger R; Casanova JL; Wahn V
    J Allergy Clin Immunol; 2004 Dec; 114(6):1456-62. PubMed ID: 15577852
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
    Roberts CM; Angus JE; Leach IH; McDermott EM; Walker DA; Ravenscroft JC
    Eur J Pediatr; 2010 Nov; 169(11):1403-7. PubMed ID: 20499091
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.
    Karakawa S; Okada S; Tsumura M; Mizoguchi Y; Ohno N; Yasunaga S; Ohtsubo M; Kawai T; Nishikomori R; Sakaguchi T; Takihara Y; Kobayashi M
    J Clin Immunol; 2011 Oct; 31(5):762-72. PubMed ID: 21720903
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
    Hanson EP; Monaco-Shawver L; Solt LA; Madge LA; Banerjee PP; May MJ; Orange JS
    J Allergy Clin Immunol; 2008 Dec; 122(6):1169-1177.e16. PubMed ID: 18851874
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
    Hubeau M; Ngadjeua F; Puel A; Israel L; Feinberg J; Chrabieh M; Belani K; Bodemer C; Fabre I; Plebani A; Boisson-Dupuis S; Picard C; Fischer A; Israel A; Abel L; Veron M; Casanova JL; Agou F; Bustamante J
    Blood; 2011 Jul; 118(4):926-35. PubMed ID: 21622647
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
    Ngadjeua F; Chiaravalli J; Traincard F; Raynal B; Fontan E; Agou F
    J Biol Chem; 2013 Nov; 288(47):33722-33737. PubMed ID: 24100029
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
    Dupuis-Girod S; Corradini N; Hadj-Rabia S; Fournet JC; Faivre L; Le Deist F; Durand P; Döffinger R; Smahi A; Israel A; Courtois G; Brousse N; Blanche S; Munnich A; Fischer A; Casanova JL; Bodemer C
    Pediatrics; 2002 Jun; 109(6):e97. PubMed ID: 12042591
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.