Renata Bocciardi

Genoa, Italy

Last Updated: 09/26/2026

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Found 53 publications

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Journal: Scientific reports
Published: March 09, 2026

Single-Cell dissection of fibrodysplasia ossificans progressiva identifies SPP1 as a mediator of macrophage-fibroadipogenic progenitors crosstalk.

Single-Cell dissection of fibrodysplasia ossificans progressiva identifies SPP1 as a mediator of macrophage-fibroadipogenic progenitors crosstalk.

Journal: Cellular and molecular life sciences : CMLS
Published: January 17, 2026

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.

Journal: Genes
Published: December 04, 2025

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.

Journal: PloS one
Published: July 09, 2025

Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.

Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.

Journal: Frontiers in pharmacology
Published: July 07, 2025

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Journal: International journal of molecular sciences
Published: June 17, 2025

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Journal: Molecular genetics & genomic medicine
Published: March 17, 2025

In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators.

In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators.

Journal: British journal of pharmacology
Published: March 14, 2025

Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.

Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.

Journal: Frontiers in medicine
Published: March 10, 2025

Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.

Derivation of the IGGi006-A stem cell line from a patient with CAPRIN1 haploinsufficiency.

Journal: Stem cell research
Published: January 18, 2025

Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators.

Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators.

Journal: Frontiers in pharmacology
Published: September 10, 2024

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

Journal: European journal of human genetics : EJHG
Published: September 06, 2024
Showing 1-12 of 53

Last Updated: 09/26/2026