Lista de obras - Asma Smahi - Dominio Público Uruguay

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

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

artículo científico publicado en 1999

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

artículo científico publicado en 2003

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

A novel missense mutation in the geneEDARADDassociated with an unusual phenotype of hypohidrotic ectodermal dysplasia

article

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2014

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

artículo científico publicado en 2021

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

artículo científico publicado en 2008

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

artículo científico publicado en 2001

An irradiation-reduced hybrid panel for fine-structure mapping of the Xq28 region in the human genome

artículo científico publicado en 1993

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

article

Clinical Study of 40 Cases of Incontinentia Pigmenti

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

De nouveaux gènes candidates pour les dysplasies ectodermiques anhidrotiques :TAB2,TRAF6etTAK1

article

Epithelial barrier dysfunction in desmoglein-1 deficiency

artículo científico publicado en 2018

Filamin (FLN1),plexin (SEX), major palmitoylated proteinp55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

artículo científico publicado en 2000

Fine deletion mapping of the p22 region of the human X chromosome using a radiation-induced hybrid panel.

artículo científico publicado en 1995

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)

article

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

artículo científico publicado en 2011

Human homologue of the murinebare patches/striated gene is not mutated in incontinentia pigmenti type 2

article

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

artículo científico publicado en 2016

Inherited disorders of NF-kappaB-mediated immunity in man.

artículo científico publicado en 2004

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

artículo científico

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

NEMO/IKK gamma: linking NF-kappa B to human disease.

artículo científico publicado en 2001

NF-kappaB-related genetic diseases

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

artículo científico publicado en 2002

PW02-012 - First clinical description of an infant with DITRA.

artículo científico publicado en 2013

Partial clinical response to anakinra in severe palmoplantar pustular psoriasis

artículo científico publicado en 2014

Pseudotumeur inflammatoire du poumon. Étude anatomoclinique d'une observation

artículo científico publicado en 1999

Spontaneous abortion of male fetuses with incontinentia pigmenti (apropos of a family)

artículo científico publicado en 1997

Successful Treatment of Generalized Pustular Psoriasis With the Interleukin-1-Receptor Antagonist Anakinra: Lack of Correlation With IL1RN Mutations

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

TLR3 deficiency in patients with herpes simplex encephalitis

artículo científico publicado en 2007

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

artículo científico publicado en 2006

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

artículo científico publicado en 2002

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

article

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

scientific article published on 24 February 2010

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

artículo científico publicado en 2001

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

artículo científico publicado en 2002

Lista de obras de Asma Smahi

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

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

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

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

A novel missense mutation in the geneEDARADDassociated with an unusual phenotype of hypohidrotic ectodermal dysplasia

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

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

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

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

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

An irradiation-reduced hybrid panel for fine-structure mapping of the Xq28 region in the human genome

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

Clinical Study of 40 Cases of Incontinentia Pigmenti

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

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

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

De nouveaux gènes candidates pour les dysplasies ectodermiques anhidrotiques :TAB2,TRAF6etTAK1

Epithelial barrier dysfunction in desmoglein-1 deficiency

Filamin (FLN1),plexin (SEX), major palmitoylated proteinp55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

Fine deletion mapping of the p22 region of the human X chromosome using a radiation-induced hybrid panel.

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

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

Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)

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

Human homologue of the murinebare patches/striated gene is not mutated in incontinentia pigmenti type 2

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

Inherited disorders of NF-kappaB-mediated immunity in man.

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

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

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

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

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms

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

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

NEMO/IKK gamma: linking NF-kappa B to human disease.

NF-kappaB-related genetic diseases

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

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

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

PW02-012 - First clinical description of an infant with DITRA.

Partial clinical response to anakinra in severe palmoplantar pustular psoriasis

Pseudotumeur inflammatoire du poumon. Étude anatomoclinique d'une observation

Spontaneous abortion of male fetuses with incontinentia pigmenti (apropos of a family)

Successful Treatment of Generalized Pustular Psoriasis With the Interleukin-1-Receptor Antagonist Anakinra: Lack of Correlation With IL1RN Mutations

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

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

TLR3 deficiency in patients with herpes simplex encephalitis

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

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

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

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

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

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