List of works - Emilia Stellacci

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

scientific article published on 19 February 2014

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

scientific article

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

scientific article

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

scientific article published on 7 May 2018

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

scientific article

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 ⬇️

scientific article published on January 10, 2011

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

scientific article

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

scientific article

Interaction between the glucocorticoid and erythropoietin receptors in human erythroid cells

scientific article published on May 2009

Interferon regulatory factor-2 drives megakaryocytic differentiation

scientific article published on January 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

scientific article published on 27 July 2012

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

scientific article published in June 2015

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

scientific article

Mutations in PAX2 associate with adult-onset FSGS

scientific article

Mutations in ZBTB20 cause Primrose syndrome

scientific article

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

scientific article published on June 2002

Skeletal abnormalities are common features in Aymé-Gripp syndrome

scientific article published on 03 November 2019

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

scientific article published on 04 September 2019

List of works by 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