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 *

197 related articles for article (PubMed ID: 22635013)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.
    Yoshioka T; Nishikomori R; Hara J; Okada K; Hashii Y; Okafuji I; Nodomi S; Kawai T; Izawa K; Ohnishi H; Yasumi T; Nakahata T; Heike T
    J Clin Immunol; 2013 Oct; 33(7):1165-74. PubMed ID: 23864385
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
    Smahi A; Courtois G; Rabia SH; Döffinger R; Bodemer C; Munnich A; Casanova JL; Israël A
    Hum Mol Genet; 2002 Oct; 11(20):2371-5. PubMed ID: 12351572
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.
    Carrol ED; Gennery AR; Flood TJ; Spickett GP; Abinun M
    Arch Dis Child; 2003 Apr; 88(4):340-1. PubMed ID: 12651765
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.
    McDonald DR; Mooster JL; Reddy M; Bawle E; Secord E; Geha RS
    J Allergy Clin Immunol; 2007 Oct; 120(4):900-7. PubMed ID: 17931563
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
    Kawai T; Nishikomori R; Izawa K; Murata Y; Tanaka N; Sakai H; Saito M; Yasumi T; Takaoka Y; Nakahata T; Mizukami T; Nunoi H; Kiyohara Y; Yoden A; Murata T; Sasaki S; Ito E; Akutagawa H; Kawai T; Imai C; Okada S; Kobayashi M; Heike T
    Blood; 2012 Jun; 119(23):5458-66. PubMed ID: 22517901
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).
    Haverkamp MH; Marciano BE; Frucht DM; Jain A; van de Vosse E; Holland SM
    J Clin Immunol; 2014 May; 34(4):436-43. PubMed ID: 24682681
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
    Carlberg VM; Lofgren SM; Mann JA; Austin JP; Nolt D; Shereck EB; Davila-Saldana B; Zonana J; Krol AL
    Pediatr Dermatol; 2014; 31(6):716-21. PubMed ID: 23405946
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway.
    Chang TT; Behshad R; Brodell RT; Gilliam AC
    J Am Acad Dermatol; 2008 Feb; 58(2):316-20. PubMed ID: 18222329
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Heritable defects of the human TLR signalling pathways.
    Puel A; Yang K; Ku CL; von Bernuth H; Bustamante J; Santos OF; Lawrence T; Chang HH; Al-Mousa H; Picard C; Casanova JL
    J Endotoxin Res; 2005; 11(4):220-4. PubMed ID: 16176658
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.