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The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.470-470, Article 470

2021

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NUP98 Fusion Oncoproteins Promote Aneuploidy by Attenuating the Mitotic Spindle Checkpoint

Cancer research (Chicago, Ill.), 2014-02, Vol.74 (4), p.1079-1090

2014

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Hoxd13 and Hoxa13 Directly Control the Expression of the EphA7 Ephrin Tyrosine Kinase Receptor in Developing Limbs

The Journal of biological chemistry, 2006-01, Vol.281 (4), p.1992-1999

2006

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Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

BMC musculoskeletal disorders, 2024-01, Vol.25 (1), p.35-35, Article 35

2024

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Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression

Development (Cambridge), 2006-06, Vol.133 (11), p.2263-2273

2006

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MafB is a downstream target of the IL-10/STAT3 signaling pathway, involved in the regulation of macrophage de-activation

Biochimica et biophysica acta, 2014-05, Vol.1843 (5), p.955-964

2014

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Dynamic Recruitment of NF-Y and Histone Acetyltransferases on Cell-cycle Promoters

The Journal of biological chemistry, 2003-08, Vol.278 (33), p.30435-30440

2003

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Hoxd13 binds in vivo and regulates the expression of genes acting in key pathways for early limb and skeletal patterning

Developmental biology, 2008-05, Vol.317 (2), p.497-507

2008

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HOXD13 Binds DNA Replication Origins To Promote Origin Licensing and Is Inhibited by Geminin

Molecular and Cellular Biology, 2009-11, Vol.29 (21), p.5775-5788

2009

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A Pbx1-dependent genetic and transcriptional network regulates spleen ontogeny

Development (Cambridge), 2005-07, Vol.132 (13), p.3113-3126

2005

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HOX cluster-embedded micro-RNAs and cancer

Biochimica et biophysica acta. Reviews on cancer, 2018-04, Vol.1869 (2), p.230-247

2018

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The FSHD jigsaw: are we placing the tiles in the right position?

Current opinion in neurology, 2023-10, Vol.36 (5), p.455

2023

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Interactions between p300 and Multiple NF-Y Trimers Govern Cyclin B2 Promoter Function

The Journal of biological chemistry, 2003-02, Vol.278 (9), p.6642-6650

2003

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NUP98 fusion oncoproteins interact with the APC/C(Cdc20) as a pseudosubstrate and prevent mitotic checkpoint complex binding

Cell cycle (Georgetown, Tex.), 2016-09, Vol.15 (17), p.2275-2287

2016

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NUP98 fusion oncoproteins interact with the APC/C Cdc20 as a pseudosubstrate and prevent mitotic checkpoint complex binding

Cell cycle (Georgetown, Tex.), 2016-09, Vol.15 (17), p.2275-2287

2016

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Does DNA Methylation Matter in FSHD?

Genes, 2020-02, Vol.11 (3), p.258

2020

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The miR-196b miRNA inhibits the GATA6 intestinal transcription factor and is upregulated in colon cancer patients

Oncotarget, 2017-01, Vol.8 (3), p.4747-4759

2017

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Genotype-phenotype correlation in FSHD-like patients with uncommon features

Journal of the neurological sciences, 2021-10, Vol.429, p.118349, Article 118349

2021

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D4Z4-pathies: Evidence from the Italian National Registry for FSHD

Journal of the neurological sciences, 2021-10, Vol.429, p.118383, Article 118383

2021

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What is the clinical significance of the facial-sparing phenotype in facioscapulohumeral muscular dystrophy? A nation-wide cross-sectional study

Journal of the neurological sciences, 2021-10, Vol.429, p.118380, Article 118380

2021

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An autoregulatory loop controls the expression of the transcription factor NF-Y

Biochimica et biophysica acta. Gene regulatory mechanisms, 2018-05, Vol.1861 (5), p.509-518

2018

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De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy

Clinical genetics, 2023-02, Vol.103 (2), p.242-246

2023

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NUP98 fusion oncoproteins interact with the APC/CCdc20 as a pseudosubstrate and prevent mitotic checkpoint complex binding

Cell cycle (Georgetown, Tex.), 2016-04, Vol.15 (17), p.2275-2287

2016

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MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis

Biochimica et biophysica acta, 2015-08, Vol.1849 (8), p.1066-1080

2015

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The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

NUP98 Fusion Oncoproteins Promote Aneuploidy by Attenuating the Mitotic Spindle Checkpoint

Hoxd13 and Hoxa13 Directly Control the Expression of the EphA7 Ephrin Tyrosine Kinase Receptor in Developing Limbs

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

Pbx1/Pbx2 requirement for distal limb patterning is mediated by the hierarchical control of Hox gene spatial distribution and Shh expression

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

MafB is a downstream target of the IL-10/STAT3 signaling pathway, involved in the regulation of macrophage de-activation

Dynamic Recruitment of NF-Y and Histone Acetyltransferases on Cell-cycle Promoters

Hoxd13 binds in vivo and regulates the expression of genes acting in key pathways for early limb and skeletal patterning

HOXD13 Binds DNA Replication Origins To Promote Origin Licensing and Is Inhibited by Geminin

A Pbx1-dependent genetic and transcriptional network regulates spleen ontogeny

HOX cluster-embedded micro-RNAs and cancer

The FSHD jigsaw: are we placing the tiles in the right position?

Interactions between p300 and Multiple NF-Y Trimers Govern Cyclin B2 Promoter Function

NUP98 fusion oncoproteins interact with the APC/C(Cdc20) as a pseudosubstrate and prevent mitotic checkpoint complex binding

NUP98 fusion oncoproteins interact with the APC/C Cdc20 as a pseudosubstrate and prevent mitotic checkpoint complex binding

Does DNA Methylation Matter in FSHD?

The miR-196b miRNA inhibits the GATA6 intestinal transcription factor and is upregulated in colon cancer patients

Genotype-phenotype correlation in FSHD-like patients with uncommon features

D4Z4-pathies: Evidence from the Italian National Registry for FSHD

What is the clinical significance of the facial-sparing phenotype in facioscapulohumeral muscular dystrophy? A nation-wide cross-sectional study

An autoregulatory loop controls the expression of the transcription factor NF-Y

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy

NUP98 fusion oncoproteins interact with the APC/CCdc20 as a pseudosubstrate and prevent mitotic checkpoint complex binding

MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis

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