Nature Search

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype

Vittorio Sossi
Anna Giuli
Christina Brahe
Research25 Mar 2001
European Journal of Human Genetics

Volume: 9, P: 113-120
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

Anna Letizia Patrizi
Francesco Tiziano
Christina Brahe
Research05 May 1999
European Journal of Human Genetics

Volume: 7, P: 301-309
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

Francesco D Tiziano
Rosa Lomastro
Lucia Morandi
Research17 Oct 2012
European Journal of Human Genetics

Volume: 21, P: 630-636
Dual functions of SPOP and ERG dictate androgen therapy responses in prostate cancer

Gene fusions involving the ERG transcription factor and point mutations in the ubiquitin ligase adaptor SPOP are two truncal mutations that are mutually exclusively present in prostate cancer. Here, the authors show that mutations in SPOP render prostate tumor cells sensitive to antiandrogen therapy and that the presence of ERG promotes sensitivity to high dose of androgen and SPOP inhibition.

Tiziano Bernasocchi
Geniver El Tekle
Jean-Philippe P. Theurillat
ResearchOpen Access02 Feb 2021
Nature Communications

Volume: 12, P: 1-18
Entropy-based models to randomise real-world hypergraphs

This work extends entropy-based models to hypergraphs, a popular alternative for describing polyadic interactions. After studying the asymptotic behaviour of thresholds generalising the percolation one, the authors apply Exponential Random Hypergraphs to real-world cases, for uncovering statistically significant deviations from random behaviours.

Fabio Saracco
Giovanni Petri
Tiziano Squartini
ResearchOpen Access08 Jul 2025
Communications Physics

Volume: 8, P: 1-14
Neutrophil-to-lymphocyte ratio is a novel predictor of venous thrombosis in polycythemia vera

Alessandra Carobbio
Alessandro Maria Vannucchi
Tiziano Barbui
ResearchOpen Access10 Feb 2022
Blood Cancer Journal

Volume: 12, P: 1-6
Steroidal and non-steroidal third-generation aromatase inhibitors induce pain-like symptoms via TRPA1

Use of aromatase inhibitors for breast cancer therapy is associated with severe pain symptoms, the underlying mechanism of which is unknown. Here the authors show that in mice, TRPA1 is a major mediator of the proinflammatory and proalgesic actions of aromatase inhibitors.

Camilla Fusi
Serena Materazzi
Romina Nassini
ResearchOpen Access08 Dec 2014
Nature Communications

Volume: 5, P: 1-14
Statistically validated projection of bipartite signed networks

Anna Gallo
Fabio Saracco
Tiziano Squartini
ResearchOpen Access03 Jul 2025
npj Complexity

Volume: 2, P: 1-15
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Catia Andreassi
Carla Angelozzi
Christina Brahe
Research22 Oct 2003
European Journal of Human Genetics

Volume: 12, P: 59-65
Extracting significant signal of news consumption from social networks: the case of Twitter in Italian political elections

Carolina Becatti
Guido Caldarelli
Fabio Saracco
ResearchOpen Access13 Aug 2019
Palgrave Communications

Volume: 5, P: 1-16
Opposing effects of cancer-type-specific SPOP mutants on BET protein degradation and sensitivity to BET inhibitors

Different mutations found in endometrial and prostate tumors affecting the substrate-recognition domain of SPOP, a component of the E3 ubiquitin ligase complex, result in opposing degradation activity of BET proteins and response to BET inhibitors. This work, along with findings by Zhang et al. and Dai et al., highlights the divergent effects of recurrent mutations affecting different residues within the same functional domain of SPOP and provides scientific rationale to guide the administration of BET inhibitors in endometrial and prostate cancer patients harboring SPOP mutations.

Hana Janouskova
Geniver El Tekle
Jean-Philippe P Theurillat
Research14 Aug 2017
Nature Medicine

Volume: 23, P: 1046-1054
Molecular definition of group 1 innate lymphoid cells in the mouse uterus

Studying the uterine lymphocyte pool is difficult due to its dynamic nature induced by various pregnancy-related factors. Here the authors provide, using transcriptome data from sorted mouse group 1 innate lymphoid cells (ILC), a molecular atlas of these cells, which implicates tissue-resident natural killer cells as a hub for uterine immune crosstalk.

Iva Filipovic
Laura Chiossone
Francesco Colucci
ResearchOpen Access29 Oct 2018
Nature Communications

Volume: 9, P: 1-13
Italian guidelines for cervical cancer screening. Multisocietal recommendations on the use of biomarkers in HPV screening with risk-based approach and GRADE methodology

Silvia Gori
Francesco Venturelli
Eleonora Petra Preti
Reviews11 Sept 2025
British Journal of Cancer

P: 1-9
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

Eleni Panagiotakaki
Francesco D. Tiziano
Erin L. Heinzen
Research14 Dec 2023
European Journal of Human Genetics

Volume: 32, P: 224-231
Testing structural balance theories in heterogeneous signed networks

According to balance theory, social actors avoid establishing cycles with an odd number of negative links. This statement can be supported only after a comparison with a benchmark. The authors find that the level of balance depends on the null-model employed: homogeneous ones favor the weak balance theory; heterogeneous ones favor the strong balance theory.

Anna Gallo
Diego Garlaschelli
Tiziano Squartini
ResearchOpen Access13 May 2024
Communications Physics

Volume: 7, P: 1-13
Molecular and cellular determinants of L-Dopa-induced dyskinesia in Parkinson’s Disease

Federica Servillo
Maria De Carluccio
Paolo Calabresi
ResearchOpen Access30 Nov 2024
npj Parkinson's Disease

Volume: 10, P: 1-13
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Hélène Puccio
Delphine Simon
Michel Koenig
Research01 Feb 2001
Nature Genetics

Volume: 27, P: 181-186
Prediction of thrombosis in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study on 1258 patients

Barbara Mora
Paola Guglielmelli
Francesco Passamonti
Research30 Aug 2022
Leukemia

Volume: 36, P: 2453-2460
SMS121, a new inhibitor of CD36, impairs fatty acid uptake and viability of acute myeloid leukemia

Hannah Åbacka
Samuele Masoni
Karin Lindkvist-Petersson
ResearchOpen Access20 Apr 2024
Scientific Reports

Volume: 14, P: 1-15
Fast and scalable likelihood maximization for Exponential Random Graph Models with local constraints

Nicolò Vallarano
Matteo Bruno
Tiziano Squartini
ResearchOpen Access27 Jul 2021
Scientific Reports

Volume: 11, P: 1-33
JAK2V617F variant allele frequency >50% identifies patients with polycythemia vera at high risk for venous thrombosis

Paola Guglielmelli
Giuseppe G. Loscocco
Alessandro M. Vannucchi
ResearchOpen Access11 Dec 2021
Blood Cancer Journal

Volume: 11, P: 1-9
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Christina Brahe
Tiziana Vitali
Giovanni Neri
Research03 Nov 2004
European Journal of Human Genetics

Volume: 13, P: 256-259
A new K⁺channel-independent mechanism is involved in the antioxidant effect of XE-991 in an in vitro model of glucose metabolism impairment: implications for Alzheimer’s disease

Silvia Piccirillo
Alessandra Preziuso
Vincenzo Lariccia
ResearchOpen Access20 Sept 2022
Cell Death Discovery

Volume: 8, P: 1-13
Addressing and proposing solutions for unmet clinical needs in the management of myeloproliferative neoplasm-associated thrombosis: A consensus-based position paper

Tiziano Barbui
Valerio De Stefano
Giovanni Barosi
ResearchOpen Access08 Aug 2019
Blood Cancer Journal

Volume: 9, P: 1-10
Differential effects of phytotherapic preparations in the hSOD1 Drosophila melanogaster model of ALS

Francescaelena De Rose
Roberto Marotta
Anna Liscia
ResearchOpen Access19 Jan 2017
Scientific Reports

Volume: 7, P: 1-12
The complex interaction between APOE promoter and AD: an Italian case–control study

Alessandra Bizzarro
Davide Seripa
Carlo Masullo
Research28 Jan 2009
European Journal of Human Genetics

Volume: 17, P: 938-945
Gender effect on phenotype and genotype in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis: results from the MYSEC project

Daniela Barraco
Barbara Mora
Francesco Passamonti
CorrespondenceOpen Access21 Sept 2018
Blood Cancer Journal

Volume: 8, P: 1-4
Reciprocity of weighted networks

Tiziano Squartini
Francesco Picciolo
Diego Garlaschelli
ResearchOpen Access23 Sept 2013
Scientific Reports

Volume: 3, P: 1-9
Tracing two decades of carbon emissions using a network approach

Gianluca Guidi
Rossana Mastrandrea
Christopher Kennedy
ResearchOpen Access27 Mar 2024
Scientific Reports

Volume: 14, P: 1-17
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Francesco Danilo Tiziano
Anna Maria Pinto
Christina Brahe
Research15 Jul 2009
European Journal of Human Genetics

Volume: 18, P: 52-58
Bow-tie structures of twitter discursive communities

Mattia Mattei
Manuel Pratelli
Fabio Saracco
ResearchOpen Access28 Jul 2022
Scientific Reports

Volume: 12, P: 1-23
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet

Tiziano Barbui
Ayalew Tefferi
Giovanni Barosi
Reviews27 Feb 2018
Leukemia

Volume: 32, P: 1057-1069
High resolution multibeam and hydrodynamic datasets of tidal channels and inlets of the Venice Lagoon

Fantina Madricardo
Federica Foglini
Fabio Trincardi
ResearchOpen Access05 Sept 2017
Scientific Data

Volume: 4, P: 1-14

Search

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

Dual functions of SPOP and ERG dictate androgen therapy responses in prostate cancer

Entropy-based models to randomise real-world hypergraphs

Neutrophil-to-lymphocyte ratio is a novel predictor of venous thrombosis in polycythemia vera

Steroidal and non-steroidal third-generation aromatase inhibitors induce pain-like symptoms via TRPA1

Statistically validated projection of bipartite signed networks

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Extracting significant signal of news consumption from social networks: the case of Twitter in Italian political elections

Opposing effects of cancer-type-specific SPOP mutants on BET protein degradation and sensitivity to BET inhibitors

Molecular definition of group 1 innate lymphoid cells in the mouse uterus

Italian guidelines for cervical cancer screening. Multisocietal recommendations on the use of biomarkers in HPV screening with risk-based approach and GRADE methodology

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

Testing structural balance theories in heterogeneous signed networks

Molecular and cellular determinants of L-Dopa-induced dyskinesia in Parkinson’s Disease

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Prediction of thrombosis in post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a study on 1258 patients

SMS121, a new inhibitor of CD36, impairs fatty acid uptake and viability of acute myeloid leukemia

Fast and scalable likelihood maximization for Exponential Random Graph Models with local constraints

JAK2V617F variant allele frequency >50% identifies patients with polycythemia vera at high risk for venous thrombosis

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

A new K⁺channel-independent mechanism is involved in the antioxidant effect of XE-991 in an in vitro model of glucose metabolism impairment: implications for Alzheimer’s disease

Addressing and proposing solutions for unmet clinical needs in the management of myeloproliferative neoplasm-associated thrombosis: A consensus-based position paper

Differential effects of phytotherapic preparations in the hSOD1 Drosophila melanogaster model of ALS

The complex interaction between APOE promoter and AD: an Italian case–control study

Gender effect on phenotype and genotype in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis: results from the MYSEC project

Reciprocity of weighted networks

Tracing two decades of carbon emissions using a network approach

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Bow-tie structures of twitter discursive communities

Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet

High resolution multibeam and hydrodynamic datasets of tidal channels and inlets of the Venice Lagoon

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