Samuela Landini

Scopus Publications

Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, et al.
American Journal of Medical Genetics Part A, 2026
TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear. This study aimed at better delineating the allelic and clinical spectrum of TSPEAR ‐associated disorders. We identified homozygous and compound heterozygous causative variants in TSPEAR [NM_144991.3] in 11 patients from seven families. Abnormalities in tooth number and shape (conical teeth and tooth agenesis with a variable number of missing teeth) were found in all affected individuals. Maxillary retrusion was present in 6/11. Manifestations in other ectodermal‐derived organs were seen in a minority of patients. None of the individuals had hearing loss. We identified a total of 10 variants, of which seven have not been previously published, and analyzed the effect of missense variants to support their pathogenicity. Our results demonstrate that individuals with biallelic variants in TSPEAR show complete penetrance for dental manifestations, but not for other ectodermal abnormalities. TSPEAR ‐related disorder is more common than previously thought, while hearing loss is not a feature of the disease.
Anti-podocin Enzyme-Linked Immunosorbent Assay Guides Immunotherapy in Steroid-Resistant Nephrotic Syndrome
Valentina Raglianti, Luigi Cirillo, Maria Lucia Angelotti, Letizia De Chiara, Benedetta Mazzinghi, et al.
Kidney International Reports, 2025
Estrogen-regulated renal progenitors determine pregnancy adaptation and preeclampsia
Carolina Conte, Maria Lucia Angelotti, Benedetta Mazzinghi, Maria Elena Melica, Giulia Antonelli, et al.
Science, 2025
The global burden of kidney disease displays marked sexual dimorphism. Lineage tracing and single-cell RNA-sequencing revealed that starting from puberty, estrogen signaling in female mice supports self-renewal and differentiation of renal progenitors to increase filtration capacity, reducing sensitivity to glomerular injury compared with that of males. This phenomenon accelerated as female kidneys adapted to the workload of pregnancy. Deletion of estrogen receptor α in renal progenitors disrupted this adaptation, leading to preeclampsia, fetal growth restriction, and increased maternal risk of hypertension and chronic kidney disease. Offspring from affected mothers had fewer nephrons, resulting in early-life hypertension and greater susceptibility to kidney disease. These results highlight the fundamental role of kidney fitness and renal progenitors for pregnancy and preeclampsia and as a determinant of sexual dimorphism in kidney disease.
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Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Gilda La Regina, Tommaso Dafichi, et al.
Journal of the American Society of Nephrology, 2025
Piezo1, F-Actin Remodeling, and Podocyte Survival and Regeneration
Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Gilda La Regina, Tommaso Dafichi, et al.
Journal of the American Society of Nephrology, 2025
Background: Podocytes and podocyte progenitors are interdependent components of the kidney's glomerular structure, with podocytes forming the glomerular filtration barrier and progenitors being key players in podocyte regeneration during pathophysiological processes. Both cell types are subjected to constant mechanical forces, whose alterations can initiate podocytopathy and worsen glomerular injury. Despite this, the specific mechanosensors and mechanotransduction pathways involved in their response to mechanical cues remain only partially explored. Methods: We used transcriptomics, immunofluorescence, and silencing experiments on human primary podocyte progenitor cell cultures to demonstrate the expression and function of Piezo1 channels. We generated inducible podocyte- and podocyte progenitor-specific Piezo1 knockout mice to evaluate the effects of Piezo1 loss in the context of Adriamycin nephropathy and over 10 months of aging. Results: Silencing of Piezo1 in progenitors triggered F-actin remodelling, induced cell shape modification and nuclear envelope defects with accumulation of DNA damage that led to mitotic catastrophe in differentiated podocytes. Podocyte-specific knockout of Piezo1 induced higher susceptibility to podocyte injury in Adriamycin nephropathy and led to accumulation of DNA damage and mild albuminuria starting from adult age. Podocyte progenitor-specific knockout of Piezo1 in mouse resulted in severe albuminuria during Adriamycin nephropathy, leading to the generation of defective podocytes. Conclusions: These results demonstrated that Piezo1, thanks to its role in F-actin cytoskeleton maintenance, is essential for the survival of podocytes exposed to mechanical stress conditions and for their correct regeneration.
When is Genetic Testing Needed in Glomerular Diseases?
Francesca Becherucci, Benedetta Mazzinghi, Luigi Cirillo, Valentina Raglianti, Viviana Palazzo, et al.
Clinical Journal of the American Society of Nephrology, 2025
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights
Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, et al.
Scientific Reports, 2024
Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniques. All patients underwent complete clinical and instrumental assessment including structural Optical Coherence Tomography (OCT), OCT Angiography and Adaptive Optics (AO) imaging. Central macular thickness (CMT), inner nuclear layer (INL), vessel density in superficial capillary plexus were the main variables evaluated with OCT technology. Cone density, cone spacing, cone regularity, cone dispersion and angular density were the parameters evaluated with AO. Genetic evaluation and trio exome sequencing were performed in all affected individuals. Eight patients (3 males and 5 females) with a mean age of 12.62 years (range 8–18) were enrolled. The mean best corrected visual acuity (BCVA) was 0.18 ± 0.13 logMAR, mean CMT was 291.9 ± 16.6 µm and INL was 26.2 ± 4.6 µm. The absence of a foveal avascular zone (FAZ) was documented by examination of OCT-A in seven patients in the superficial capillary plexus. However, there was a partial FAZ in the deep plexus in patients P5 and P8. Of note, all the patients presented with major retinal vessels clearly crossing the foveal center. All individuals exhibited a grade I or II of foveal hypoplasia. In 5 patients molecular analyses showed an extremely mild form of albinism caused by compound heterozygosity of a TYR pathogenic variant and the hypomorphic p.[Ser192Tyr;Arg402Gln] haplotype. One patient had Waardenburg syndrome type 2A caused by a de novo variant in MITF. Two patients had inconclusive molecular analyses. All the patients displayed abnormalities on OCT-A. Photoreceptor count did not differ from normal subjects according to the current literature, but qualitative analysis of AO imaging showed distinctive features likely related to an abnormal pigment distribution in this subset of individuals. In patients with foveal hypoplasia, genetic and multimodal imaging data, including AO findings, can help understand the physiopathology of the foveal hypoplasia phenotype. This study confirms that cone density and visual function can both be preserved despite the absence of a pit.
Anti-slit diaphragm antibodies on kidney biopsy identify pediatric patients with steroid-resistant nephrotic syndrome responsive to second-line immunosuppressants
Valentina Raglianti, Maria Lucia Angelotti, Luigi Cirillo, Fiammetta Ravaglia, Samuela Landini, et al.
Kidney International, 2024
Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases
Elisa Marziali, Samuela Landini, Erika Fiorentini, Camilla Rocca, Lucia Tiberi, et al.
Ophthalmic Genetics, 2024
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, et al.
European Journal of Human Genetics, 2024
Polyploid tubular cells initiate a TGF-β1 controlled loop that sustains polyploidization and fibrosis after acute kidney injury
Letizia De Chiara, Roberto Semeraro, Benedetta Mazzinghi, Samuela Landini, Alice Molli, et al.
American Journal of Physiology Cell Physiology, 2023
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases
Francesca Becherucci, Samuela Landini, Viviana Palazzo, Luigi Cirillo, Valentina Raglianti, et al.
Journal of the American Society of Nephrology, 2023
Intravenous Glu-plasminogen attenuates cholesterol crystal embolism-induced thrombotic angiopathy, acute kidney injury and kidney infarction
Lyuben Lyubenov, Chongxu Shi, Danyang Zhao, Luying Yang, Yutian Lei, et al.
Nephrology Dialysis Transplantation, 2023
Tubular cell polyploidy protects from lethal acute kidney injury but promotes consequent chronic kidney disease
Letizia De Chiara, Carolina Conte, Roberto Semeraro, Paula Diaz-Bulnes, Maria Lucia Angelotti, et al.
Nature Communications, 2022
Defining diagnostic trajectories in patients with podocytopathies
Luigi Cirillo, Gianmarco Lugli, Valentina Raglianti, Fiammetta Ravaglia, Elisa Buti, et al.
Clinical Kidney Journal, 2022
Differentiation of crescent-forming kidney progenitor cells into podocytes attenuates severe glomerulonephritis in mice
Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Maria Lucia Angelotti, Gianmarco Lugli, et al.
Science Translational Medicine, 2022
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, et al.
International Journal of Molecular Sciences, 2022
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome
Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, et al.
International Journal of Molecular Sciences, 2022
Guidelines for Genetic Testing and Management of Alport Syndrome
Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, et al.
Clinical Journal of the American Society of Nephrology, 2022
Collapsing Glomerulopathy as a Complication of Type I Interferon–Mediated Glomerulopathy in a Patient With RNASEH2B-Related Aicardi-Goutières Syndrome
Paride Fenaroli, Giovanni M. Rossi, Maria Lucia Angelotti, Giulia Antonelli, Stefano Volpi, et al.
American Journal of Kidney Diseases, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, et al.
European Journal of Human Genetics, 2021
Look alike, sound alike: Phenocopies in steroid-resistant nephrotic syndrome
Francesca Becherucci, Samuela Landini, Luigi Cirillo, Benedetta Mazzinghi, Paola Romagnani
International Journal of Environmental Research and Public Health, 2020
Eculizumab as rescue therapy for lupus nephritis-related thrombotic microangiopathy
Giornale Italiano Di Nefrologia Organo Ufficiale Della Societa Italiana Di Nefrologia, 2020
Eculizumab as rescue therapy for systemic lupus erythematosus-related thrombotic microangiopathy: Case report and literature review
Giornale Italiano Di Nefrologia, 2020
Acute kidney injury promotes development of papillary renal cell adenoma and carcinoma from renal progenitor cells
Anna Julie Peired, Giulia Antonelli, Maria Lucia Angelotti, Marco Allinovi, Francesco Guzzi, et al.
Science Translational Medicine, 2020
Reverse phenotyping after whole-Exome sequencing in steroid-resistant nephrotic syndrome
Samuela Landini, Benedetta Mazzinghi, Francesca Becherucci, Marco Allinovi, Aldesia Provenzano, et al.
Clinical Journal of the American Society of Nephrology, 2020
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulation
Laura Giunti, Martina Da Ros, Veronica De Gregorio, Alberto Magi, Samuela Landini, et al.
Molecular and Clinical Oncology, 2019

Samuela Landini

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Scopus Publications