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Items: 1 to 20 of 40

1.

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.

PMID:
11242109
2.

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 1;11(20):2371-5. Review.

3.

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. Review.

PMID:
14734108
4.

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T, Nishikomori R, Heike T.

Allergol Int. 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. Review.

5.

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. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13. Review.

PMID:
26269396
6.

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. Review.

PMID:
16176658
7.

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. Review.

PMID:
15661018
8.

Molecular aspects of hypohidrotic ectodermal dysplasia.

Mikkola ML.

Am J Med Genet A. 2009 Sep;149A(9):2031-6. doi: 10.1002/ajmg.a.32855. Review.

PMID:
19681132
9.

NF-kappaB-related genetic diseases.

Courtois G, Smahi A.

Cell Death Differ. 2006 May;13(5):843-51. Review.

10.

Regulation and function of IKK and IKK-related kinases.

Häcker H, Karin M.

Sci STKE. 2006 Oct 17;2006(357):re13. Review.

PMID:
17047224
11.

The range of defects associated with nuclear factor kappaB essential modulator.

Uzel G.

Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):513-8. Review.

PMID:
16264331
12.
13.

Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.

Clauss F, Manière MC, Obry F, Waltmann E, Hadj-Rabia S, Bodemer C, Alembik Y, Lesot H, Schmittbuhl M.

J Dent Res. 2008 Dec;87(12):1089-99. Review.

PMID:
19029074
14.

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M, Pescatore A, Conte MI, Esposito E, Incoronato M, Lioi MB, Fusco F, Ursini MV.

Genes Immun. 2015 Jun;16(4):239-46. doi: 10.1038/gene.2015.3. Epub 2015 Mar 12. Review.

15.

The NF-kappaB signaling pathway in human genetic diseases.

Courtois G.

Cell Mol Life Sci. 2005 Aug;62(15):1682-91. Review.

PMID:
15924263
16.

Ectodysplasin signaling in development.

Mikkola ML, Thesleff I.

Cytokine Growth Factor Rev. 2003 Jun-Aug;14(3-4):211-24. Review.

PMID:
12787560
17.

The Ectodysplasin and NFkappaB signalling pathways in odontogenesis.

Courtney JM, Blackburn J, Sharpe PT.

Arch Oral Biol. 2005 Feb;50(2):159-63. Review.

PMID:
15721144
18.

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.

Permaul P, Narla A, Hornick JL, Pai SY.

Immunol Res. 2009;44(1-3):89-98. doi: 10.1007/s12026-008-8085-2. Review.

PMID:
19225723
19.

NF-kappaB and inflammation in genetic disease.

Sebban H, Courtois G.

Biochem Pharmacol. 2006 Oct 30;72(9):1153-60. Epub 2006 Sep 11. Review.

PMID:
16965764
20.

The zinc finger domain of IKKγ (NEMO) protein in health and disease.

Shifera AS.

J Cell Mol Med. 2010 Oct;14(10):2404-14. doi: 10.1111/j.1582-4934.2010.01054.x. Review.

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