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Asma Smahi Selected Research

hypohidrotic Ectodermal dysplasia with immune deficiency

5/2008Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
1/2006Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
12/2005A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
2/2004Inherited disorders of NF-kappaB-mediated immunity in man.
10/2003A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
10/2002The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
6/2002Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

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Asma Smahi Research Topics

Disease

7Ectodermal Dysplasia (Aplasia Cutis Congenita)
05/2008 - 10/2002
7hypohidrotic Ectodermal dysplasia with immune deficiency
05/2008 - 06/2002
6Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
12/2017 - 10/2002
4Psoriasis (Pustulosis Palmaris et Plantaris)
05/2014 - 07/2010
2Inflammation (Inflammations)
01/2020 - 10/2019
2Infections
09/2007 - 02/2004
1Hidradenitis Suppurativa
01/2020
1Basal Cell Carcinoma (Rodent Ulcer)
10/2017
1Diarrhea
03/2014
1VLCAD deficiency
12/2013
1Rhabdomyolysis
12/2013
1Anemia
10/2013
1Thrombocytosis (Thrombocythemia)
10/2013
1Leukocytosis (Pleocytosis)
10/2013
1Exanthema (Rash)
08/2011
1Fever (Fevers)
08/2011
1Microcephaly
12/2009
1Intellectual Disability (Idiocy)
12/2009
1Anhidrotic Ectodermal Dysplasia 1
12/2005
1Sclerosing Cholangitis
11/2004
1Ichthyosis (Xeroderma)
11/2004
1And Sclerosing Cholangitis Alopecia Leukocyte Vacuoles Ichthyosis
11/2004
1Bacterial Infections (Bacterial Infection)
10/2003
1Osteopetrosis
10/2002
1Inborn Genetic Diseases (Disease, Hereditary)
10/2002

Drug/Important Bio-Agent (IBA)

10NF-kappa B (NF-kB)IBA
02/2014 - 06/2002
4Proteins (Proteins, Gene)FDA Link
02/2014 - 02/2004
3I-kappa B KinaseIBA
12/2009 - 10/2003
2Phosphotransferases (Kinase)IBA
12/2017 - 05/2008
2Toll-Like Receptors (Toll-Like Receptor)IBA
05/2014 - 09/2007
2CytokinesIBA
12/2013 - 08/2011
2C-Reactive ProteinIBA
10/2013 - 08/2011
2NF-KappaB Inhibitor alphaIBA
02/2004 - 10/2003
2Codon (Codons)IBA
10/2002 - 06/2002
1AntibodiesIBA
01/2020
1Immunoglobulin A (IgA)IBA
01/2020
1Immunoglobulin G (IgG)IBA
01/2020
1Methionine (L-Methionine)FDA Link
10/2019
1sharpinIBA
12/2017
1Cell-Free Nucleic AcidsIBA
11/2017
1Enhancer RNAsIBA
10/2017
1Transcription Factor AP-1 (Transcription Factor AP 1)IBA
05/2014
1Toll-Like Receptor 3IBA
05/2014
1SodiumIBA
03/2014
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
12/2013
1Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaIBA
12/2013
1LipidsIBA
12/2013
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
12/2013
1Peroxisome Proliferator-Activated Receptors (PPAR)IBA
12/2013
1AcidsIBA
10/2013
1RetinoidsIBA
10/2013
1Adrenal Cortex Hormones (Corticosteroids)IBA
10/2013
1Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link
07/2010
1RNA (Ribonucleic Acid)IBA
12/2009
1Carrier Proteins (Binding Protein)IBA
12/2009
1NF-kappaB-Inducing KinaseIBA
12/2009
1Peptides (Polypeptides)IBA
05/2008
1TNF Receptor-Associated Factor 6 (TRAF6)IBA
03/2006
1NucleotidesIBA
01/2006
1Claudin-1IBA
11/2004
1Transcription Factors (Transcription Factor)IBA
02/2004
1LigandsIBA
10/2003
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
10/2003
1Serine (L-Serine)FDA Link
10/2003
1Edar ReceptorIBA
10/2002
1EctodysplasinsIBA
10/2002