Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Alessandra Renieri"'
Autor:
Alessandra Renieri, Theodora Hadjistilianou, Mario Fruschelli, Nicola Lorusso, Mirella Bruttini, Alessandro Di Maggio, Marco Mandalà, Maria Antonietta Mencarelli
Publikováno v:
Ophthalmic genetics. 43(1)
Background Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral microphthalmia with bilateral colobomata, blue sclerae with pigmented retinal
Autor:
Luisa Sturiale, Rita Barone, Maria Grazia Alessandrì, Rosa Pasquariello, Anna Maria Pinto, Celeste Panteghini, Eleonora Bonaventura, Roberta Battini, Barbara Garavaglia, Giovanni Cioni, Alessandra Renieri
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 16 (2021). doi:10.1186/s13023-021-01941-y
info:cnr-pdr/source/autori:Bonaventura, Eleonora; Barone, Rita; Sturiale, Luisa; Pasquariello, Rosa; Alessandri, Maria Grazia; Pinto, Anna Maria; Renieri, Alessandra; Panteghini, Celeste; Garavaglia, Barbara; Cioni, Giovanni; Battini, Roberta/titolo:Clinical, molecular and glycophenotype insights in SLC39A8-CDG/doi:10.1186%2Fs13023-021-01941-y/rivista:Orphanet journal of rare diseases/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:16
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet journal of rare diseases 16 (2021). doi:10.1186/s13023-021-01941-y
info:cnr-pdr/source/autori:Bonaventura, Eleonora; Barone, Rita; Sturiale, Luisa; Pasquariello, Rosa; Alessandri, Maria Grazia; Pinto, Anna Maria; Renieri, Alessandra; Panteghini, Celeste; Garavaglia, Barbara; Cioni, Giovanni; Battini, Roberta/titolo:Clinical, molecular and glycophenotype insights in SLC39A8-CDG/doi:10.1186%2Fs13023-021-01941-y/rivista:Orphanet journal of rare diseases/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:16
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Background SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated wit
Autor:
Jina Song, Cheng Wang, Kevin P. Kenna, Alessandra Renieri, Mark M. Davis, Simone Furini, Ilia Sarah Timpanaro, Sai Zhang, Cuiping Pan, Peng Gao, Xiaotao Shen, Johnathan Cooper-Knock, Paul Billing-Ross, Calum Harvey, Elisa Frullanti, Annika K. Weimer, VA Million Veteran Program, Philip S. Tsao, Michael Snyder, Jingjing Li, Francesca Fava, Thomas Julian
Publikováno v:
medRxiv : the preprint server for health sciences.
The determinants of severe COVID-19 in non-elderly adults are poorly understood, which limits opportunities for early intervention and treatment. Here we present novel machine learning frameworks for identifying common and rare disease-associated gen
Autor:
Joaquin Manrique, Valentina Villani, Stefano Da Sacco, Laura Perin, Roger E. De Filippo, Alessandra Renieri, Astgik Petrosyan, Andrea Angeletti, Paolo Cravedi
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Nature Communications
Nature Communications
In this work we model the glomerular filtration barrier, the structure responsible for filtering the blood and preventing the loss of proteins, using human podocytes and glomerular endothelial cells seeded into microfluidic chips. In long-term cultur
Autor:
Chiara Fallerini, Alessandra Renieri, Mirella Bruttini, Simone Furini, Sergio Daga, Anna Maria Pinto, Francesca Mari, Francesco Scolari, Maria Antonietta Mencarelli, Francesca Ariani, Carmine Pecoraro
Publikováno v:
BMC Nephrology, Vol 20, Iss 1, Pp 1-9 (2019)
BMC Nephrology
BMC Nephrology
Background Alport syndrome is a clinically heterogeneous nephropathy characterized by severe symptomatology at kidney level due to ultrastructural lesions of the glomerular basement membrane (GBM) as consequence of mutations in COL4 genes. The diseas
Autor:
Margherita Baldassarri, Sergio Daga, Francesco Donati, Chiara Fallerini, Susanna Croci, Alessandra Renieri, Simone Furini, Maria Antonietta Mencarelli, Silvestro G. Conticello, Rossella Tita, Annarita Giliberti, Anna Maria Pinto, Katia Capitani, Elisa Frullanti, Francesca Niccheri, Floriana Valentino, Elisa Benetti
Publikováno v:
European Journal of Human Genetics
Alport syndrome (AS) is an inherited genetic disorder characterized by range of alterations from glomerular basement membrane abnormalities up to end-stage renal disease. Pathogenic variants in the collagen α3, α4, and α5 encoding genes are causat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1692c78e8e1197023784a9114f6fbe3
http://hdl.handle.net/11365/1113136
http://hdl.handle.net/11365/1113136
Autor:
Justyna A. Glegola, Leontien Bosch, Ilaria Meloni, Nicholas D. Mazarakis, Francesca Hearn-Yeates, Ioanna Eleftheriadou, Alessandra Renieri, Yunan Gao, Maria Kinali, Elaine E. Irvine, Aleksandra Czerniak, Leah Murdoch, Carlos Jiménez Naranjo
Publikováno v:
Brain
Cyclin-dependent kinase-like 5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene. It predominantly affects females who typically present with severe early epileptic enceph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d498d419960eae616a56d8af1fe4a1a
http://hdl.handle.net/10044/1/77254
http://hdl.handle.net/10044/1/77254
Autor:
Koichi Nakanishi, Michelle N. Rheault, Jie Ding, Alessandra Renieri, Oliver Gross, Fang Wang, Clifford E. Kashtan, Guido Garosi, Laura Massella, Laurence Heidet, Kandai Nozu
Publikováno v:
Kidney International. 93:1045-1051
Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are a
Autor:
Anna Maria Pinto, Francesca Mari, Margherita Baldassarri, Laura Massella, Guido Garosi, Sergio Daga, Ilaria Longo, Valentina Imperatore, Elisa Frullanti, Alessandra Renieri, Chiara Fallerini, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Carmine Pecoraro, Elisa Landucci, Francesca Ariani
Publikováno v:
Human Mutation. 39:302-314
Alport Syndrome (ATS) is a rare genetic disorder caused by collagen IV genes mutations, leading to glomerular basement membrane damage up to end-stage renal disease. Podocytes, the main component of the glomerular structure, are the only cells able t
Autor:
Alessandra Renieri, Pia Bernasconi, Cristina Cappelletti, Carmelo Rodolico, Barbara Galbardi, Marina Mora, Eleonora Canioni, Mirella Bruttini, Maria Barbara Pasanisi, Franco Salerno, Lorenzo Maggi, Renato Mantegazza, Teresa Brizzi
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease caused by an abnormal (GCN) triplet expansion within the polyadenylate-binding protein nuclear 1 gene and consequent mRNA pr...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b83129bca1b4d30939fc9d4f6045e149
http://hdl.handle.net/11365/1126833
http://hdl.handle.net/11365/1126833