List of works - Sofia Papadia

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

scientific article

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

scientific article published on 15 April 2016

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Cellular Notch responsiveness is defined by phosphoinositide 3-kinase-dependent signals

scientific article

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

scientific article published on 01 December 2019

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

scientific article published on 21 June 2017

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

scientific article published on 01 December 2019

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

scientific article published on 17 January 2019

Implication of TAp73 in the p53-independent pathway of Puma induction and Puma-dependent apoptosis in primary cortical neurons

scientific article

Induction of sulfiredoxin expression and reduction of peroxiredoxin hyperoxidation by the neuroprotective Nrf2 activator 3H-1,2-dithiole-3-thione.

scientific article published on 16 September 2008

Neuronal activity controls the antagonistic balance between peroxisome proliferator-activated receptor-γ coactivator-1α and silencing mediator of retinoic acid and thyroid hormone receptors in regulating antioxidant defenses.

scientific article published on 20 February 2011

Nrf2 target genes can be controlled by neuronal activity in the absence of Nrf2 and astrocytes.

scientific article published on 21 April 2014

Nuclear Ca2+ and CaM kinase IV specify hormonal- and Notch-responsiveness.

scientific article

Nuclear Ca2+ and the cAMP response element-binding protein family mediate a late phase of activity-dependent neuroprotection.

scientific article published in April 2005

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

scientific article published on 01 September 2018

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

scientific article published on 14 November 2016

Role of histone acetylation in the activity-dependent regulation of sulfiredoxin and sestrin 2.

scientific article published on 12 April 2009

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

scientific article published on 22 November 2018

Suppression of the intrinsic apoptosis pathway by synaptic activity.

scientific article

SynGAP isoforms exert opposing effects on synaptic strength

scientific article

The dichotomy of NMDA receptor signaling.

scientific article published on December 2007

emc has a role in dorsal appendage fate formation in Drosophila oogenesis.

scientific article published in September 2005

List of works by Sofia Papadia

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Cellular Notch responsiveness is defined by phosphoinositide 3-kinase-dependent signals

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

Implication of TAp73 in the p53-independent pathway of Puma induction and Puma-dependent apoptosis in primary cortical neurons

Induction of sulfiredoxin expression and reduction of peroxiredoxin hyperoxidation by the neuroprotective Nrf2 activator 3H-1,2-dithiole-3-thione.

Neuronal activity controls the antagonistic balance between peroxisome proliferator-activated receptor-γ coactivator-1α and silencing mediator of retinoic acid and thyroid hormone receptors in regulating antioxidant defenses.

Nrf2 target genes can be controlled by neuronal activity in the absence of Nrf2 and astrocytes.

Nuclear Ca2+ and CaM kinase IV specify hormonal- and Notch-responsiveness.

Nuclear Ca2+ and the cAMP response element-binding protein family mediate a late phase of activity-dependent neuroprotection.

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Role of histone acetylation in the activity-dependent regulation of sulfiredoxin and sestrin 2.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

Suppression of the intrinsic apoptosis pathway by synaptic activity.

SynGAP isoforms exert opposing effects on synaptic strength

The dichotomy of NMDA receptor signaling.

emc has a role in dorsal appendage fate formation in Drosophila oogenesis.