Lista de obras - Emilia Stellacci - Dominio Público Uruguay

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

artículo científico publicado en 2014

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

artículo científico publicado en 2017

Cells resistant to interferon-beta respond to interferon-gamma via the Stat1-IRF-1 pathway

artículo científico publicado en 1995

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

artículo científico publicado en 2018

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

artículo científico publicado en 2016

Critical Role of IRF-8 in Negative Regulation of TLR3 Expression by Src Homology 2 Domain-Containing Protein Tyrosine Phosphatase-2 Activity in Human Myeloid Dendritic Cells ⬇️

artículo científico publicado el 10 de enero de 2011

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

artículo científico publicado en 2010

Human papillomavirus type 16 E5 protein induces expression of beta interferon through interferon regulatory factor 1 in human keratinocytes

artículo científico publicado en 2011

Interaction between the glucocorticoid and erythropoietin receptors in human erythroid cells

artículo científico publicado en 2009

Interferon regulatory factor-2 drives megakaryocytic differentiation

artículo científico publicado en 2004

IκB kinase ε targets interferon regulatory factor 1 in activated T lymphocytes.

scientific article published on 06 January 2014

Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia

artículo científico publicado en 2012

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

artículo científico publicado en 2015

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

artículo científico publicado en 2015

Mutations in PAX2 associate with adult-onset FSGS

artículo científico publicado en 2014

Mutations in ZBTB20 cause Primrose syndrome

artículo científico publicado en 2014

Protein inhibitor of activated signal transducer and activator of transcription (STAT)-1 (PIAS-1) regulates the IFN-gamma response in macrophage cell lines

artículo científico publicado en 2002

Skeletal abnormalities are common features in Aymé-Gripp syndrome

artículo científico publicado en 2019

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies

scientific article published on 04 September 2019

Lista de obras de Emilia Stellacci

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Cells resistant to interferon-beta respond to interferon-gamma via the Stat1-IRF-1 pathway

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Critical Role of IRF-8 in Negative Regulation of TLR3 Expression by Src Homology 2 Domain-Containing Protein Tyrosine Phosphatase-2 Activity in Human Myeloid Dendritic Cells ⬇️

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Human papillomavirus type 16 E5 protein induces expression of beta interferon through interferon regulatory factor 1 in human keratinocytes

Interaction between the glucocorticoid and erythropoietin receptors in human erythroid cells

Interferon regulatory factor-2 drives megakaryocytic differentiation

IκB kinase ε targets interferon regulatory factor 1 in activated T lymphocytes.

Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in PAX2 associate with adult-onset FSGS

Mutations in ZBTB20 cause Primrose syndrome

Protein inhibitor of activated signal transducer and activator of transcription (STAT)-1 (PIAS-1) regulates the IFN-gamma response in macrophage cell lines

Skeletal abnormalities are common features in Aymé-Gripp syndrome

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies