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Marco Ritelli

University of Brescia

95

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1362

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Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.

2021 Biochimica et Biophysica Acta
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Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?

2021 Cells
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Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

2020 Molecular Genetics & Genomic Medicine
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Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

2020 Bone
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Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

2020 Biochimica et Biophysica Acta
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Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

2020 Molecular Genetics & Genomic Medicine
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Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

2020 Genes
- Marco Ritelli
- Marina Colombi
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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

2019 Science immunology
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Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

2019 Genes
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Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review

2019 Molecular Genetics & Genomic Medicine
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