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Items: 1 to 50 of 66

1.

Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds.

Sbidian E, Madrange M, Viguier M, Salmona M, Duchatelet S, Hovnanian A, Smahi A, Le Goff J, Bachelez H.

Br J Dermatol. 2019 Dec;181(6):1304-1306. doi: 10.1111/bjd.18203. Epub 2019 Aug 20. No abstract available.

PMID:
31150103
2.

PAPASH, PsAPASH and PASS autoinflammatory syndromes: phenotypic heterogeneity, common biological signature and response to immunosuppressive regimens.

Gottlieb J, Madrange M, Gardair C, Sbidian E, Frazier A, Wolkenstein P, Hickman G, Schneider P, Baudry C, Claudepierre P, Bertheau P, Richette P, Smahi A, Bachelez H.

Br J Dermatol. 2019 Oct;181(4):866-869. doi: 10.1111/bjd.18003. Epub 2019 Jul 25. No abstract available.

PMID:
30980721
3.

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.

Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H.

Cytogenet Genome Res. 2019;157(4):189-196. doi: 10.1159/000499325. Epub 2019 Apr 12.

4.

First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia.

Cluzeau C, Marrakchi S, Picard C, Munnich A, Smahi A, Turki H.

J Eur Acad Dermatol Venereol. 2019 Feb;33(2):e55-e57. doi: 10.1111/jdv.15182. Epub 2018 Oct 14. No abstract available.

PMID:
30022538
5.

Epithelial barrier dysfunction in desmoglein-1 deficiency.

Polivka L, Hadj-Rabia S, Bal E, Leclerc-Mercier S, Madrange M, Hamel Y, Bonnet D, Mallet S, Lepidi H, Ovaert C, Barbet P, Dupont C, Neven B, Munnich A, Godsel LM, Campeotto F, Weil R, Laplantine E, Marchetto S, Borg JP, Weis WI, Casanova JL, Puel A, Green KJ, Bodemer C, Smahi A.

J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27. No abstract available.

6.

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A.

Nat Med. 2017 Oct;23(10):1226-1233. doi: 10.1038/nm.4368. Epub 2017 Sep 4.

7.

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Dangouloff-Ros V, Hadj-Rabia S, Oliveira Santos J, Bal E, Desguerre I, Kossorotoff M, An I, Smahi A, Bodemer C, Munnich A, Steffann J, Boddaert N.

Mol Genet Metab. 2017 Nov;122(3):140-144. doi: 10.1016/j.ymgme.2017.07.001. Epub 2017 Jul 10.

PMID:
28711407
8.

Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.

Bal E, Lim AC, Shen M, Douangpanya J, Madrange M, Gazah R, Tauber M, Beghdadi W, Casanova JL, Bourrat E, Bachelez H, Towne JE, Smahi A.

Exp Dermatol. 2019 Oct;28(10):1114-1117. doi: 10.1111/exd.13387. Epub 2017 Oct 26.

PMID:
28603914
9.

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pescatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont JP, Ursini VM, Vabres P, Munnich A, Casanova JL, Bodemer C, Weil R, Agou F, Smahi A.

J Allergy Clin Immunol. 2017 Dec;140(6):1671-1682.e2. doi: 10.1016/j.jaci.2016.11.056. Epub 2017 Feb 27.

PMID:
28249776
10.

Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti.

Scholefield J, Henriques R, Savulescu AF, Fontan E, Boucharlat A, Laplantine E, Smahi A, Israël A, Agou F, Mhlanga MM.

Nat Commun. 2016 Sep 2;7:12629. doi: 10.1038/ncomms12629.

11.

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

Tauber M, Bal E, Pei XY, Madrange M, Khelil A, Sahel H, Zenati A, Makrelouf M, Boubridaa K, Chiali A, Smahi N, Otsmane F, Bouajar B, Marrakchi S, Turki H, Bourrat E, Viguier M, Hamel Y, Bachelez H, Smahi A.

J Invest Dermatol. 2016 Sep;136(9):1811-1819. doi: 10.1016/j.jid.2016.04.038. Epub 2016 May 21. Review.

12.

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.

Wohlfart S, Söder S, Smahi A, Schneider H.

Am J Med Genet A. 2016 Jan;170A(1):249-53. doi: 10.1002/ajmg.a.37412. Epub 2015 Oct 5.

PMID:
26440664
13.

Unique subungueal keratoacanthoma revealing incontinentia pigmenti.

Ferneiny M, Hadj-Rabia S, Regnier S, Ortonne N, Smahi A, Steffann J, Bonnefont JP, Fraitag S, Chosidow O, Bodemer C.

J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1401-3. doi: 10.1111/jdv.13245. Epub 2015 Sep 21. No abstract available.

PMID:
26387562
14.

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, Duckworth M, Bachelez H, Burden AD, Choon SE, Griffiths CE, Kirby B, Kolios A, Seyger MM, Prins C, Smahi A, Trembath RC, Fraternali F, Smith CH, Barker JN, Capon F.

Am J Hum Genet. 2014 May 1;94(5):790-7. doi: 10.1016/j.ajhg.2014.04.005.

15.

Partial clinical response to anakinra in severe palmoplantar pustular psoriasis.

Tauber M, Viguier M, Alimova E, Petit A, Lioté F, Smahi A, Bachelez H.

Br J Dermatol. 2014 Sep;171(3):646-9. doi: 10.1111/bjd.13012. Epub 2014 Aug 7.

PMID:
24684162
16.

Is it relevant to use an interleukin-1-inhibiting strategy for the treatment of patients with deficiency of interleukin-36 receptor antagonist?

Tauber M, Viguier M, Le Gall C, Smahi A, Bachelez H.

Br J Dermatol. 2014 May;170(5):1198-9. doi: 10.1111/bjd.12805. No abstract available.

PMID:
24641215
17.

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV.

Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12.

PMID:
24339369
18.

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A.

Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.

PMID:
24142340
19.

First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.

Rossi-Semerano L, Piram M, Chiaverini C, De Ricaud D, Smahi A, Koné-Paut I.

Pediatrics. 2013 Oct;132(4):e1043-7. doi: 10.1542/peds.2012-3935. Epub 2013 Sep 9.

PMID:
24019411
20.

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.

Michot C, Mamoune A, Vamecq J, Viou MT, Hsieh LS, Testet E, Lainé J, Hubert L, Dessein AF, Fontaine M, Ottolenghi C, Fouillen L, Nadra K, Blanc E, Bastin J, Candon S, Pende M, Munnich A, Smahi A, Djouadi F, Carman GM, Romero N, de Keyzer Y, de Lonlay P.

Biochim Biophys Acta. 2013 Dec;1832(12):2103-14. doi: 10.1016/j.bbadis.2013.07.021. Epub 2013 Aug 6.

21.

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV.

Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556. Epub 2011 Nov 25.

PMID:
22121116
22.

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation.

Cluzeau C, Hadj-Rabia S, Bal E, Clauss F, Munnich A, Bodemer C, Headon D, Smahi A.

Br J Dermatol. 2012 Mar;166(3):678-81. doi: 10.1111/j.1365-2133.2011.10620.x. Epub 2011 Dec 5. No abstract available.

PMID:
21916884
23.

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A.

N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068.

24.

A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.

Salomon J, Espinosa-Parrilla Y, Goulet O, Al-Qabandi W, Guigue P, Canioni D, Bruneau J, Alzahrani F, Almuhsen S, Cerf-Bensussan N, Jeanpierre M, Brousse N, Lyonnet S, Munnich A, Smahi A.

Eur J Med Genet. 2011 May-Jun;54(3):319-22. doi: 10.1016/j.ejmg.2011.01.009. Epub 2011 Feb 26.

PMID:
21315192
25.

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

Hadj-Rabia S, Rimella A, Smahi A, Fraitag S, Hamel-Teillac D, Bonnefont JP, de Prost Y, Bodemer C.

J Am Acad Dermatol. 2011 Mar;64(3):508-15. doi: 10.1016/j.jaad.2010.01.045. Epub 2011 Jan 20.

PMID:
21255870
26.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PMID:
20979233
27.

Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: lack of correlation with IL1RN mutations.

Viguier M, Guigue P, Pagès C, Smahi A, Bachelez H.

Ann Intern Med. 2010 Jul 6;153(1):66-7. doi: 10.7326/0003-4819-153-1-201007060-00030. No abstract available.

PMID:
20621920
28.

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M.

Clin Genet. 2010 Sep;78(3):257-66. doi: 10.1111/j.1399-0004.2010.01376.x. Epub 2010 Feb 24.

PMID:
20236127
29.

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P.

Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5.

PMID:
20222921
30.

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.

Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, Colleaux L.

Am J Hum Genet. 2009 Dec;85(6):903-8. doi: 10.1016/j.ajhg.2009.11.007.

31.

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A.

Am J Med Genet A. 2008 Oct 15;146A(20):2657-62. doi: 10.1002/ajmg.a.32509.

PMID:
18816645
32.

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.

Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV.

Hum Mutat. 2008 May;29(5):595-604. doi: 10.1002/humu.20739.

PMID:
18350553
33.

TLR3 deficiency in patients with herpes simplex encephalitis.

Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, Segal D, Sancho-Shimizu V, Lorenzo L, Puel A, Picard C, Chapgier A, Plancoulaine S, Titeux M, Cognet C, von Bernuth H, Ku CL, Casrouge A, Zhang XX, Barreiro L, Leonard J, Hamilton C, Lebon P, Héron B, Vallée L, Quintana-Murci L, Hovnanian A, Rozenberg F, Vivier E, Geissmann F, Tardieu M, Abel L, Casanova JL.

Science. 2007 Sep 14;317(5844):1522-7.

34.

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A.

Hum Mutat. 2007 Jul;28(7):703-9.

PMID:
17354266
35.

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL.

Am J Hum Genet. 2006 Apr;78(4):691-701. Epub 2006 Feb 15.

36.

[New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1].

Morlon A, Smahi A, Munnich A.

Med Sci (Paris). 2006 Mar;22(3):229-30. French. No abstract available.

37.

NF-kappaB-related genetic diseases.

Courtois G, Smahi A.

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

38.

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

Ørstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J.

Am J Med Genet A. 2006 Jan 1;140(1):31-9.

PMID:
16333836
39.

TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.

Morlon A, Munnich A, Smahi A.

Hum Mol Genet. 2005 Dec 1;14(23):3751-7. Epub 2005 Oct 26.

PMID:
16251197
40.

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N.

Hum Genet. 2005 Dec;118(3-4):458-65. Epub 2005 Oct 14.

PMID:
16228229
41.

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease.

Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A.

Gastroenterology. 2004 Nov;127(5):1386-90. Erratum in: Gastroenterology. 2005 Feb;128(2):524.

PMID:
15521008
42.

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.

Steffann J, Raclin V, Smahi A, Woffendin H, Munnich A, Kenwrick SJ, Grebille AG, Benachi A, Dumez Y, Bonnefont JP, Hadj-Rabia S.

Prenat Diagn. 2004 May;24(5):384-8.

PMID:
15164415
43.

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
44.

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.

45.

Clinical study of 40 cases of incontinentia pigmenti.

Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C.

Arch Dermatol. 2003 Sep;139(9):1163-70.

PMID:
12975158
46.

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.

PMID:
12351572
47.

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms.

Mégarbané A, Vabres P, Slaba S, Smahi A, Loeys B, Okais N.

Am J Med Genet. 2002 Sep 15;112(1):95-8.

PMID:
12239729
48.

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.

PMID:
12042591
49.

[Anhidrotic ectodermal dysplasia and Incontinentia pigmenti: pieces of the same puzzle].

Hadj-Rabia S, Smahi A, Bodemer C.

Ann Dermatol Venereol. 2002 Mar;129(3):277-80. French. No abstract available.

50.

Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia.

Siffroi JP, Benzacken B, Angelopoulou R, Le Bourhis C, Berthaut I, Kanafani S, Smahi A, Wolf JP, Dadoune JP.

J Med Genet. 2001 Nov;38(11):802-6. No abstract available.

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