Samuela Landini

@meyer.it

Division of Medical Genetics, Neuroscience and Medical Genetics Department
Meyer Children's Hospital IRCCS

Samuela Landini


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https://researchid.co/samuelalandini

RESEARCH, TEACHING, or OTHER INTERESTS

Genetics, Molecular Biology, Molecular Medicine, Biotechnology
27

Scopus Publications

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, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron
    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, Giulia Antonelli, Carolina Conte, Maria Elena Melica, Anna Julie Peired, Elena Lazzeri, Laura Lasagni, Viviana Palazzo, Samuela Landini, Anna Maria Buccoliero, Samantha Innocenti, Carmela Errichiello, Elisa Buti, Giulia Sansavini, Andrea La Tessa, Francesca Becherucci, Hans-Joachim Anders, Paola Romagnani
    Kidney International Reports, 2025
    Steroid-resistant nephrotic syndrome (SRNS) has diverse causes, yet treatment often relies on high-dose corticosteroids, calcineurin inhibitors (CNI), mycophenolate mofetil (MMF), cyclophosphamide, or rituximab (RTX) in a trial-and-error fashion, without identifying the underlying etiology1. Recently, autoantibodies against slit diaphragm proteins—nephrin, podocin, and Kirrel1—have been found in patients responsive to second-line immunosuppression, but not in genetic SRNS2-6. However, diagnostic tools for detecting autoimmune podocytopathies (APs) remain limited.
  • Estrogen-regulated renal progenitors determine pregnancy adaptation and preeclampsia
    Carolina Conte, Maria Lucia Angelotti, Benedetta Mazzinghi, Maria Elena Melica, Giulia Antonelli, Giulia Carangelo, Samuela Landini, Valentina Raglianti, Fiammetta Ravaglia, Luigi Cirillo, Camilla Fantini, Tommaso Dafichi, Martin Klaus, Ersilia Lucenteforte, Alice Molli, Letizia De Chiara, Anna Julie Peired, Elena Lazzeri, Hans-Joachim Anders, Laura Lasagni, Paola Romagnani
    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.
  • Cover Image
    Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Gilda La Regina, Tommaso Dafichi, Camilla Fantini, Giulia Carangelo, Giuseppina Comito, Carolina Conte, Laura Maggi, Samuela Landini, Valentina Raglianti, Maria Lucia Angelotti, Alice Molli, Daniela Buonvicino, Letizia De Chiara, Elena Lazzeri, Benedetta Mazzinghi, Anna Julie Peired, Paola Romagnani, Laura Lasagni
    Journal of the American Society of Nephrology, 2025
    Immunofluorescence image displays coexpression of Piezo1 (green) and nephrin (red) in a human glomerulus of a healthy participant. All nuclei are stained with 4’,6-diamidino-2-phenylindole (white) to visualize the tissue. Figure 1C from “Piezo1, F-actin Remodeling, and Podocyte Survival and Regeneration” by Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Gilda La Regina, Tommaso Dafichi, Camilla Fantini, Giulia Carangelo, Giuseppina Comito, Carolina Conte, Laura Maggi, Samuela Landini, Valentina Raglianti, Maria Lucia Angelotti, Alice Molli, Daniela Buonvicino, Letizia De Chiara, Elena Lazzeri, Benedetta Mazzinghi, Anna Julie Peired, Paola Romagnani, and Laura Lasagni. J Am Soc Nephrol . 2025;36(9):1749–1763. doi:10.1681/ASN.0000000697.
  • Piezo1, F-Actin Remodeling, and Podocyte Survival and Regeneration
    Maria Elena Melica, Giulia Antonelli, Roberto Semeraro, Gilda La Regina, Tommaso Dafichi, Camilla Fantini, Giulia Carangelo, Giuseppina Comito, Carolina Conte, Laura Maggi, Samuela Landini, Valentina Raglianti, Maria Lucia Angelotti, Alice Molli, Daniela Buonvicino, Letizia De Chiara, Elena Lazzeri, Benedetta Mazzinghi, Anna Julie Peired, Paola Romagnani, Laura Lasagni
    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, Samuela Landini, Paola Romagnani
    Clinical Journal of the American Society of Nephrology, 2025
    Glomerular diseases account for a significant proportion of CKD and kidney failure worldwide.1 In recent years, genetic testing has become an increasingly reliable and accessible tool to investigate their etiology. This is particularly relevant for podocytopathies and their phenocopies (e.g., Alport syndrome and Fabry disease),1 although not exclusively. These insights can significantly influence prognosis, therapeutic decisions, and familial counseling.2 Concurrently, a decreasing cost and faster turnaround time of sequencing technologies have made testing a valuable component of routine care.2,3 Yet, questions remain regarding which patients to test, what technology to use, and how to manage costs. These uncertainties reflect both the rapidly evolving understanding of the genetic architecture of kidney diseases and the disparities in access to testing due to variations in health care systems, resources, and regulatory framework, including insurance liability.4 Consequently, clinical practice remains inconsistent, and genetic forms of glomerular diseases are likely underdiagnosed in many settings. With broader availability and cost-effectiveness of testing, defining evidence-based, practical criteria for patients selection is urgent. Early-onset disease (e.g., congenital or infantile) is a well-established indication for genetic testing, but 8%–14% of adult-onset glomerular diseases also have a genetic basis.5 Recent studies show diagnostic yields in adults comparable with children when appropriate selection criteria are used.6 Among adult cases, slowly progressive genetic disorders such as collagenopathies may long remain undiagnosed due to subtle, nonspecific clinical features. In addition, a significant fraction of CKD of unknown origin may be attributed to genetic causes. These patients often present with comorbidities such as diabetes or obesity, and kidney biopsies typically reveal nonspecific findings such as FSGS. Lack of clear “red flag” features can obscure underlying diagnosis, delaying targeted management. In such cases, genetic testing is key to clarify etiology, shorten the diagnostic odyssey, and inform therapy, including transplant planning. Treatment resistance—especially to immunosuppressive therapies—has recently emerged as a strong clinical indicator of suspected genetic etiology in glomerular diseases.1 Lack of response to standard therapies often suggests structural defects in the glomerular filtration barrier, which warrants investigation for a potential genetic cause.1 Identifying a genetic etiology in these contexts is pivotal to avoid unnecessary exposure to ineffective, potentially harmful treatments and to enable timely nephroprotection. Extrarenal manifestations also serve as important clues pointing toward a genetic condition.5 Notably, these features may be clinically unapparent or only recognized retrospectively, complicating early diagnosis. This highlights the need to broadly consider patient phenotype and avoid restricting genetic testing to only those with obvious syndromic traits. Similarly, family history can be informative yet misleading. A positive history or consanguinity may suggest a genetic basis but is often overlooked—especially when phenotypic variability exists among relatives. Therefore, clinicians should not exclude sporadic cases from testing based solely on a lack of family history. In all these contexts, reverse phenotyping—wherein a genetic diagnosis prompts clinicians to re-examine patients or family members for subtle, associated clinical features—has proven highly effective in confirming genetic causes when initial syndromic indicators were absent.6 Clinically, the implications of a genetic diagnosis extend beyond the proband, enabling presymptomatic screening of at-risk relatives and supporting family planning, including prenatal and, where legally permitted, preimplantation genetic diagnosis (Figure 1). Interestingly, it is now recognized that the genetic architecture of glomerular disease includes not only rare, causative variants but also common risk alleles that modulate susceptibility without directly causing disease. The discovery of apolipoprotein L1 risk and protective alleles has spurred broader investigation into genetic modifiers that influence disease expression and severity (e.g., heterozygous variants in podocyte-related genes in Alport syndrome, or variants in apolipoprotein L1, hemoglobin-α locus 1/2—HBA1/HBA2, BRG1-associated factor chromatin remodeling comples subunit BCL11A-BCL11A, and HEME oxygenase 1—HMOX1 in sickle cell disease).1,7,8 Emerging evidence supports the utility of genome-wide polygenic scores in modulating disease severity and progression in patients with monogenic CKD. Incorporating such genetic modifiers into clinical algorithms may enhance future approaches to risk stratification, diagnosis, and personalized treatment. Over the past two decades, advances in high-throughput sequencing technologies have substantially expanded our understanding of the genetic basis of glomerular diseases.1,2,4 As more disease-associated genes are identified, conventional genetic methods (i.e., Sanger sequencing) have gradually been supplanted by more efficient approaches such as targeted sequencing and exome sequencing.3 Although genome sequencing is not yet widely used in routine nephrology, its relevance is growing—especially when broader genomic exploration is required.3 These methods can be supplemented with techniques to detect structural variants. One of the key challenges for nephrologists lies in selecting the most appropriate testing modality and integrating it at the optimal time point in a patient's diagnostic journey (Figure 1). Whether a genomic-first or second-line approach is used, maximizing diagnostic yield and clinical utility requires structured, individualized diagnostic pathways. Several factors must be considered when choosing a testing strategy, including (1) diagnostic sensitivity; (2) cost and reimbursement policies, including insurance coverage; (3) turnaround time and therapeutic implications; (4) risk of incidental/secondary findings and related reporting guidelines; (5) laboratory capabilities in result analysis and patient counseling; (6) potential for data reanalysis in light of evolving classifications; and (7) resource availability, particularly in underresourced settings (i.e., low-income countries, first-level hospitals). These elements, along with infrastructure and multidisciplinary expertise, are essential to build effective models for genetic diagnostics in nephrology. Although genomic testing was initially perceived as costly, mounting evidence shows that it yields clear clinical and financial benefits when implemented early in the diagnostic trajectory (i.e., before additional second-level and third-level investigations are performed).6 Recent cost-effectiveness studies reveal that genomic testing—despite higher up-front expenses— significantly improves diagnostic accuracy and leads to an incremental cost-effectiveness ratio per additional diagnosis.9 Over a lifetime horizon, testing generates meaningful gains in quality-adjusted life years, especially in patients with glomerular disorders. In pediatric populations, early exome sequencing with targeted analysis has been shown to be cost-saving relative to traditional diagnostic pathways. In adults, while the initial costs are higher, the clinical benefits of timely diagnosis remain significant.10 Real-world data corroborate these findings, confirming the economic viability of integrating genomic testing into routine nephrologic care.6 Importantly, precise genetic diagnoses reduce the need for ineffective treatments—such as empirical immunosuppression—and avoid redundant procedures. This translates into lower overall health care costs and more efficient resource use. Targeted management based on molecular findings can reduce the need for invasive biopsies, limit diagnostic delays, and streamline treatment planning. Recent innovations in in silico bioinformatic pipelines and virtual gene panel customization have further enhanced efficiency, improving both turnaround time and diagnostic accuracy. As sequencing technologies become more accessible and analytically powerful, the economic case for broad implementation continues to strengthen.2 Finally, international guidelines increasingly call for standardized approaches to economic evaluations in genomic medicine. However, nephrology still lacks robust, disease-specific cost-effectiveness frameworks. Addressing this gap will be critical for informing health care policy and optimizing clinical integration of genomic diagnostics.4 In conclusion, the integration of genetic testing into nephrology—particularly for glomerular diseases—offers compelling clinical and economic advantages. It complements traditional diagnostic modalities such as kidney biopsy and supports the move toward precision medicine. While perceived cost and logistical challenges remain, substantial evidence supports early implementation to achieve accurate diagnoses, informed therapy, and long-term cost savings. Broader access, improved education, and enhanced infrastructure will be essential to fully realize the transformative potential of genomic medicine in everyday nephrology practice.Figure 1: Clinical indications for genetic testing in glomerular diseases and guidance for test selection. Schematic summarizing key clinical scenarios (blue square) in which genetic testing should be considered in patients with glomerular diseases, testing strategies (purple square), and logistical considerations (green square). It summarizes key situations warranting genetic testing—such as early-onset disease, CKDu, familial history, syndromic features, or treatment resistance—and maps them to appropriate testing modalities (e.g., Sanger sequencing, targeted panels, exome/genome sequencing) based on clinical presentation, suspected heterogeneity, or prior inconclusive findings. Additional factors such as cost, turnaround time, and the risk of incidental findings are noted. The dollar sign symbol refers to the raw sequencing cost only and does not reflect the overall cost of testing, which includes pretest and post-test genetic counseling, variant interpretation, potential reverse phenotyping investigations, and the need for reanalysis in cases of inconclusive results. A definitive genetic diagnosis can inform prognosis, treatment decisions, transplant planning, familial screening, and reproductive counseling, including preimplantation genetic testing. Icons are from the website Noun Project (thenounproject.com), and the credits go to their creators. CGH-array, comparative genome hybridization array; CKDu, CKD of unknown origin; FISH, fluorescence in situ hybridization; MLPA, multiplex ligation-dependent probe amplification; SNP-array, single-nucleotide polymorphism array.
  • 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, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo
    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, Viviana Palazzo, Maria Elena Melica, Giulia Antonelli, Carolina Conte, Elisa Buti, Carmela Errichiello, Letizia De Chiara, Anna Julie Peired, Laura Lasagni, Anna Maria Buccoliero, Marco Allinovi, Anna Manonelles Montero, Josep Maria Cruzado, Maurizio Bruschi, Gian Marco Ghiggeri, Andrea Angeletti, Hans-Joachim Anders, Elena Lazzeri, Benedetta Mazzinghi, Francesca Becherucci, Paola Romagnani
    Kidney International, 2024
    Podocytopathies represent a group of glomerular disorders associated with minimal changes (MC) or focal segmental glomerulosclerosis (FSGS) lesion patterns at biopsy and heterogeneous responses to steroids. Anti-nephrin antibodies were previously found in such patients, suggesting an autoimmune form of podocytopathy. High resolution confocal microscopy on kidney biopsies of a cohort of 128 pediatric patients revealed localization of IgG along the slit diaphragm in 30% of patients with MC and 25% of those with FSGS, but not in other lesion patterns. Anti-nephrin IgG ELISA assay in the serum and stimulated emission depletion microscopy of kidney biopsies showed IgG-nephrin co-localization only in 77.8% of cases. Similar observations were obtained in a cohort of 48 adult patients with MC or FSGS at kidney biopsy, where IgG-nephrin colocalization was only 44.4%, suggesting the existence of autoantibodies binding to other slit proteins. Patients with anti-slit antibodies showed nephrotic syndrome at onset in 94.4% of cases. Patients with primary steroid-resistance had anti-slit antibodies in 27%, while those with secondary steroid-resistance in 87.5% of cases, irrespective of the histopathological lesion pattern. Steroid-resistant patients with anti-slit antibodies responded to second-line immunosuppressants in 92.3% vs. only 20% of patients that were anti-slit negative. No patient with anti-slit antibodies developed kidney failure vs. 51.7% of those negative for antibodies (66.7% with a genetic cause and 41.2% with a non-genetic cause). Thus, the detection of anti-slit antibodies can identify patients with an autoimmune podocytopathy responsive to treatment with second-line immunosuppressants, irrespective of the histopathological lesion pattern at biopsy.
  • Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases
    Elisa Marziali, Samuela Landini, Erika Fiorentini, Camilla Rocca, Lucia Tiberi, Rosangela Artuso, Laila Zaroili, Elia Dirupo, Pina Fortunato, Sara Bargiacchi, Roberto Caputo, Giacomo Maria Bacci
    Ophthalmic Genetics, 2024
    Introduction BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic variants in BRPF1 gene are associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by global developmental delay, intellectual disability, language delay, and dysmorphic facial features. The reported ocular involvement includes strabismus, amblyopia, and refraction errors. This report describes a novel ocular finding in patients affected by variants in the BRPF1 gene.Methods We performed exome sequencing and deep ocular phenotyping in two unrelated patients (P1, P2) with mild intellectual disability, ptosis, and typical facies.Results Interestingly, P1 had a Chiari Malformation type I and a subclinical optic neuropathy, which could not be explained by variations in other genes. Having detected a peculiar ocular phenotype in P1, we suggested optical coherence tomography (OCT) for P2; such an exam also detected bilateral subclinical optic neuropathy in this case.Discussion To date, only a few patients with BRPF1 variants have been described, and none were reported to have optic neuropathy. Since subclinical optic nerve alterations can go easily undetected, our experience highlights the importance of a more detailed ophthalmologic evaluation in patients with BRPF1 variant.
  • 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, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz
    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, Giulia Antonelli, Maria Lucia Angelotti, Maria Elena Melica, Laura Maggi, Carolina Conte, Anna Julie Peired, Luigi Cirillo, Valentina Raglianti, Alberto Magi, Francesco Annunziato, Paola Romagnani, Elena Lazzeri
    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, Gianmarco Lugli, Lucia Tiberi, Elia Dirupo, Stefania Bellelli, Tommaso Mazzierli, Jacopo Lomi, Fiammetta Ravaglia, Giulia Sansavini, Marco Allinovi, Domenico Giannese, Chiara Somma, Giuseppe Spatoliatore, Debora Vergani, Rosangela Artuso, Alberto Rosati, Calogero Cirami, Pietro Claudio Dattolo, Gesualdo Campolo, Letizia De Chiara, Laura Papi, Augusto Vaglio, Elena Lazzeri, Hans-Joachim Anders, Benedetta Mazzinghi, Paola Romagnani
    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, Elmina Mammadova-Bach, Letizia de Chiara, Roberto Semeraro, Samuela Landini, Paola Romagnani, Elena Vörg, Satish K Devarapu, Ricarda Welz, Stephan T Kiessig, Hans-Joachim Anders
    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, Benedetta Mazzinghi, Alice Molli, Giulia Antonelli, Samuela Landini, Maria Elena Melica, Anna Julie Peired, Laura Maggi, Marta Donati, Gilda La Regina, Marco Allinovi, Fiammetta Ravaglia, Daniele Guasti, Daniele Bani, Luigi Cirillo, Francesca Becherucci, Francesco Guzzi, Alberto Magi, Francesco Annunziato, Laura Lasagni, Hans-Joachim Anders, Elena Lazzeri, Paola Romagnani
    Nature Communications, 2022
  • Defining diagnostic trajectories in patients with podocytopathies
    Luigi Cirillo, Gianmarco Lugli, Valentina Raglianti, Fiammetta Ravaglia, Elisa Buti, Samuela Landini, Francesca Becherucci
    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, Samuela Landini, Fiammetta Ravaglia, Gilda La Regina, Carolina Conte, Letizia De Chiara, Anna Julie Peired, Benedetta Mazzinghi, Marta Donati, Alice Molli, Stefanie Steiger, Alberto Magi, Niccolò Bartalucci, Valentina Raglianti, Francesco Guzzi, Laura Maggi, Francesco Annunziato, Alexa Burger, Elena Lazzeri, Hans-Joachim Anders, Laura Lasagni, Paola Romagnani
    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, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi, Giacomo Maria Bacci
    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, Elisa Buti, Rosangela Artuso, Lucia Tiberi, Debora Vergani, Elia Dirupo, Paola Romagnani, Benedetta Mazzinghi, Francesca Becherucci
    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, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
    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, Alice Grossi, Marco Delsante, Lorenzo Lodi, Samuela Landini, Paola Romagnani, Augusto Vaglio
    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, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz
    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, Alessandro Sisti, Roberto Semeraro, Carolina Conte, Benedetta Mazzinghi, Sara Nardi, Maria Elena Melica, Letizia De Chiara, Elena Lazzeri, Laura Lasagni, Tiziano Lottini, Samuela Landini, Sabrina Giglio, Andrea Mari, Fabrizio Di Maida, Alessandro Antonelli, Francesco Porpiglia, Riccardo Schiavina, Vincenzo Ficarra, Davide Facchiano, Mauro Gacci, Sergio Serni, Marco Carini, George J. Netto, Rosa Maria Roperto, Alberto Magi, Christian Fynbo Christiansen, Mario Rotondi, Helen Liapis, Hans-Joachim Anders, Andrea Minervini, Maria Rosaria Raspollini, Paola Romagnani
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