المؤلفون: Rossi, Marianna Nicoletta, Matteo, Valentina, Diomedi-Camassei, Francesca, De Leo, Ester, Devuyst, Olivier, Lamkanfi, Mohamed, Caiello, Ivan, Loricchio, Elena, Bellomo, Francesco, Taranta, Anna, Emma, Francesco, De Benedetti, Fabrizio, Prencipe, Giusi

المساهمون: Rossi, Marianna Nicoletta, Matteo, Valentina, Diomedi-Camassei, Francesca, De Leo, Ester, Devuyst, Olivier, Lamkanfi, Mohamed, Caiello, Ivan, Loricchio, Elena, Bellomo, Francesco, Taranta, Anna, Emma, Francesco, De Benedetti, Fabrizio, Prencipe, Giusi

Relation: volume:15; journal:FRONTIERS IN IMMUNOLOGY; https://hdl.handle.net/11590/474249

الاتاحة: https://hdl.handle.net/11590/474249
https://doi.org/10.3389/fimmu.2024.1373224

المؤلفون: Bellomo, Francesco, Pugliese, Sara, Cairoli, Sara, Krohn, Patrick, De Stefanis, Cristiano, Raso, Roberto, Rega, Laura Rita, Taranta, Anna, De Leo, Ester, Ciolfi, Andrea, Cicolani, Nicolò, Petrini, Stefania, Luciani, Alessandro, Goffredo, Bianca Maria, Porzio, Ottavia, Devuyst, Olivier, Dionisi-Vici, Carlo, Emma, Francesco

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie

المصدر: Journal of the American Society of Nephrology : JASN, (2024)

Relation: boreal:291489; http://hdl.handle.net/2078.1/291489; info:pmid/38995697; urn:EISSN:1533-3450

الاتاحة: http://hdl.handle.net/2078.1/291489
https://doi.org/10.1681/ASN.0000000000000439

المؤلفون: Krohn, Patrick, Rega, Laura Rita, Harvent, Marianne, Festa, Beatrice Paola, Taranta, Anna, Luciani, Alessandro, Dewulf, Joseph, Cremonesi, Alessio, Camassei, Francesca Diomedi, Hanson, James V M, Gerth-Kahlert, Christina, Emma, Francesco, Berquez, Marine, Devuyst, Olivier

المصدر: Krohn, Patrick; Rega, Laura Rita; Harvent, Marianne; Festa, Beatrice Paola; Taranta, Anna; Luciani, Alessandro; Dewulf, Joseph; Cremonesi, Alessio; Camassei, Francesca Diomedi; Hanson, James V M; Gerth-Kahlert, Christina; Emma, Francesco; Berquez, Marine; Devuyst, Olivier (2022). Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Human Molecular Genetics, 31(13):2262-2278.

مصطلحات موضوعية: Medical Clinic, Ophthalmology Clinic, Institute of Physiology, 610 Medicine & health, Genetics (clinical), Genetics, Molecular Biology, General Medicine

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/217886/1/CREAL-Multisystem_involvement,_defective_lysosomes_and.pdf; info:pmid/35137071; urn:issn:0964-6906

الاتاحة: https://www.zora.uzh.ch/id/eprint/217886/
https://doi.org/10.1093/hmg/ddac033

المؤلفون: De Leo, Ester, Taranta, Anna, Raso, Roberto, Polishchuk, Elena, D’Oria, Valentina, Pezzullo, Marco, Goffredo, Bianca Maria, Cairoli, Sara, Bellomo, Francesco, Battafarano, Giulia, Camassei, Francesca Diomedi, Del Fattore, Andrea, Polishchuk, Roman, Emma, Francesco, Rega, Laura Rita

المساهمون: Cystinosis Research Foundation, Italian Ministry of Health

المصدر: Human Molecular Genetics ; volume 32, issue 7, page 1090-1101 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddac266
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac266/48412171/ddac266.pdf
https://academic.oup.com/hmg/article-pdf/32/7/1090/49562329/ddac266.pdf

المؤلفون: Taranta, Anna, elmonem, mohamed a, Bellomo, Francesco, Leo, Ester De, Boenzi, Sara, Janssen, Manoe J., Jamalpoor, Amer, Cairoli, Sara, Pastore, Anna, Stefanis, Cristiano De, Colucci, Manuela, Rega, Laura R., giovannoni, isabella, Francalanci, Paola, Heuvel, Lambertus P. van den, Dionisi-Vici, Carlo, Goffredo, Bianca M., Masereeuw, Rosalinde, Levtchenko, Elena, Emma, Francesco

المساهمون: Afd Pharmacology, Pharmacology

مصطلحات موضوعية: Cystinosis, Disulfiram, Mice, Zebrafish, General Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/413779

الاتاحة: https://dspace.library.uu.nl/handle/1874/413779

المؤلفون: Reda, Ahmed, Veys, Koenraad, Kadam, Prashant, Taranta, Anna, Rega, Laura Rita, Goffredo, Bianca M., Camps, Chelsea, Besouw, Martine, Cyr, Daniel, Albersen, Maarten, Spiessens, Carl, de Wever, Liesbeth, Hamer, Robert, Janssen, Mirian C.H., D'Hauwers, Kathleen, Wetzels, Alex, Monnens, Leo, van den Heuvel, Lambertus, Goossens, Ellen, Levtchenko, Elena

المصدر: Reda , A , Veys , K , Kadam , P , Taranta , A , Rega , L R , Goffredo , B M , Camps , C , Besouw , M , Cyr , D , Albersen , M , Spiessens , C , de Wever , L , Hamer , R , Janssen , M C H , D'Hauwers , K , Wetzels , A , Monnens , L , van den Heuvel , L , Goossens , E & Levtchenko , E 2021 , ' Human and animal fertility studies in cystinosis reveal signs of ....

مصطلحات موضوعية: azoospermia, cysteamine, cystinosis, epididymal obstruction, infertility

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/df209bb1-15ad-44d1-9cd9-f5fef4956cfd
https://research.rug.nl/en/publications/df209bb1-15ad-44d1-9cd9-f5fef4956cfd
https://doi.org/10.1002/jimd.12434
https://pure.rug.nl/ws/files/203001454/J_of_Inher_Metab_Disea_2021_Reda_Human_and_animal_fertility_studies_in_cystinosis_reveal_signs_of_obstructive.pdf

المؤلفون: Marzia, Marilena, Sims, Natalie A., Voit, Susanne, Migliaccio, Silvia, Taranta, Anna, Bernardini, Silvia, Faraggiana, Tullio, Yoneda, Toshiyuki, Mundy, Gregory R., Boyce, Brendan F., Baron, Roland, Teti, Anna

المصدر: The Journal of Cell Biology, 2000 Oct . 151(2), 311-320.

URL الوصول: https://www.jstor.org/stable/1620189

المؤلفون: Rossi, Marianna N., Pascarella, Antonia, Licursi, Valerio, Caiello, Ivan, Taranta, Anna, Rega, Laura R., Levtchenko, Elena, Emma, Francesco, De Benedetti, Fabrizio, Prencipe, Giusi

المساهمون: Cystinosis Research Foundation, KU Leuven

المصدر: Frontiers in Cell and Developmental Biology ; volume 7 ; ISSN 2296-634X

الاتاحة: http://dx.doi.org/10.3389/fcell.2019.00252
https://www.frontiersin.org/article/10.3389/fcell.2019.00252/full

المؤلفون: Battafarano, Giulia, Rossi, Michela, Rega, Laura R., Di Giovamberardino, Gianna, Pastore, Anna, D'Agostini, Matteo, Porzio, Ottavia, Nevo, Nathalie, Emma, Francesco, Taranta, Anna, Del Fattore, Andrea

المساهمون: Cystinosis Research Foundation, Italian Ministry of Health

المصدر: The American Journal of Pathology ; volume 189, issue 5, page 1053-1064 ; ISSN 0002-9440

الاتاحة: http://dx.doi.org/10.1016/j.ajpath.2019.01.015
https://api.elsevier.com/content/article/PII:S0002944018309647?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002944018309647?httpAccept=text/plain

المؤلفون: Bellomo, Francesco, Taranta, Anna, Petrini, Stefania, Venditti, Rossella, ROCCHETTI, MARIA TERESA, Rega, Laura Rita, Corallini, Serena, GESUALDO, Loreto, De Matteis, Maria Antonietta, Emma, Francesco

المساهمون: Bellomo, Francesco, Taranta, Anna, Petrini, Stefania, Venditti, Rossella, Rocchetti, MARIA TERESA, Rega, Laura Rita, Corallini, Serena, Gesualdo, Loreto, De Matteis, Maria Antonietta, Emma, Francesco

مصطلحات موضوعية: Cystinosin, Carboxyl

Relation: info:eu-repo/semantics/altIdentifier/pmid/27148969; info:eu-repo/semantics/altIdentifier/wos/WOS:000375676800064; volume:11; issue:5; firstpage:e0154805; numberofpages:19; journal:PLOS ONE; http://hdl.handle.net/11586/163340; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85009766297

الاتاحة: http://hdl.handle.net/11586/163340
https://doi.org/10.1371/journal.pone.0154805

المؤلفون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, Krohn, Patrick, Rega, Laura Rita, Harvent, Marianne, Festa, Beatrice Paola, Taranta, Anna, Luciani, Alessandro, Dewulf, Joseph P., Cremonesi, Alessio, Camassei, Francesca Diomedi, Hanson, James V M, Gerth-Kahlert, Christina, Emma, Francesco, Berquez, Marine, Devuyst, Olivier

المصدر: Human Molecular Genetics, Vol. 31, no.13, p. 2262-2278 (2022)

مصطلحات الفهرس: Genetics (clinical), Genetics, Molecular Biology, General Medicine, info:eu-repo/semantics/article

URL: http://hdl.handle.net/2078.1/269018

المؤلفون: Krohn, Patrick; https://orcid.org/0000-0001-5821-9919, Rega, Laura Rita; https://orcid.org/0000-0003-4847-366X, Harvent, Marianne, Festa, Beatrice Paola; https://orcid.org/0000-0002-2243-6054, Taranta, Anna; https://orcid.org/0000-0002-7606-9085, Luciani, Alessandro; https://orcid.org/0000-0001-7219-3719, Dewulf, Joseph; https://orcid.org/0000-0001-7223-2706, Cremonesi, Alessio; https://orcid.org/0000-0002-1524-4169, Camassei, Francesca Diomedi; https://orcid.org/0000-0003-2829-2407, Hanson, James V M; https://orcid.org/0000-0003-3383-4856, Gerth-Kahlert, Christina; https://orcid.org/0000-0001-6298-615X, Emma, Francesco; https://orcid.org/0000-0002-0383-3468, Berquez, Marine; https://orcid.org/0000-0001-6909-2060, Devuyst, Olivier; https://orcid.org/0000-0003-3744-4767

المصدر: Krohn, Patrick; Rega, Laura Rita; Harvent, Marianne; Festa, Beatrice Paola; Taranta, Anna; Luciani, Alessandro; Dewulf, Joseph; Cremonesi, Alessio; Camassei, Francesca Diomedi; Hanson, James V M; Gerth-Kahlert, Christina; Emma, Francesco; Berquez, Marine; Devuyst, Olivier (2022). Multisystem involvement, defective lysosomes, and impaired autophagy in a novel rat model of Nephropathic Cystinosis. Human Molecular Genetics, 31(13):2262-2278.

مصطلحات الفهرس: Medical Clinic, Ophthalmology Clinic, Institute of Physiology, 610 Medicine & health, Genetics (clinical), Genetics, Molecular Biology, General Medicine, Journal Article, PeerReviewed, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://www.zora.uzh.ch/id/eprint/217886/
https://www.zora.uzh.ch/id/eprint/217886
10.1093/hmg/ddac033
info:eu-repo/grantAgreement/unknown/SNF/31003A-169850

المؤلفون: Rega, Laura R., Polishchuk, Elena, Montefusco, Sandro, Napolitano, Gennaro, Tozzi, Giulia, Zhang, Jinzhong, Bellomo, Francesco, Taranta, Anna, Pastore, Anna, Polishchuk, Roman, Piemonte, Fiorella, Medina, Diego L., Catz, Sergio D., Ballabio, Andrea, Emma, Francesco

مصطلحات موضوعية: Nephrology

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/172792

الاتاحة: https://www.openaccessrepository.it/record/172792
https://doi.org/10.1016/j.kint.2015.12.045

المؤلفون: Taranta, Anna, Bellomo, Francesco, Petrini, Stefania, Polishchuk, Elena, De Leo, Ester, Rega, Laura Rita, Pastore, Anna, Polishchuk, Roman, De Matteis, Maria Antonietta, Emma, Francesco

المصدر: Pediatric Research ; volume 81, issue 1, page 113-119 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1038/pr.2016.184
http://www.nature.com/articles/pr2016184.pdf
http://www.nature.com/articles/pr2016184

المؤلفون: Leo, Ester De, Taranta, Anna, Raso, Roberto, Polishchuk, Elena, D'Oria, Valentina, Pezzullo, Marco, Goffredo, Bianca Maria, Cairoli, Sara, Bellomo, Francesco, Battafarano, Giulia, Camassei, Francesca Diomedi, Fattore, Andrea Del, Polishchuk, Roman, Emma, Francesco, Rega, Laura Rita

المصدر: Human Molecular Genetics; Apr2023, Vol. 32 Issue 7, p1090-1101, 12p

المؤلفون: Conforti, Antonella, Taranta, Anna, Biagini, Simone, Starc, Nadia, Pitisci, Angela, Bellomo, Francesco, Cirillo, Valentina, Locatelli, Franco, Bernardo, Maria Ester, Emma, Francesco

المصدر: Journal of Translational Medicine ; volume 13, issue 1 ; ISSN 1479-5876

الاتاحة: http://dx.doi.org/10.1186/s12967-015-0494-0
http://link.springer.com/content/pdf/10.1186/s12967-015-0494-0.pdf
http://link.springer.com/article/10.1186/s12967-015-0494-0/fulltext.html
http://link.springer.com/content/pdf/10.1186/s12967-015-0494-0
https://link.springer.com/content/pdf/10.1186/s12967-015-0494-0.pdf

المؤلفون: Al-Haggar, Mohammad, Taranta, Anna, Bencivenga, Paola, Ahmad, Nermin, Hadid, Hany Abo, Wahba, Yahya

مصطلحات موضوعية: Cystinosis, CTNS gene, truncating mutation, cardiac manifestation

Relation: https://zenodo.org/communities/2231-0614-bjmmr; https://doi.org/; https://doi.org/10.5281/zenodo.8021; oai:zenodo.org:8021

الاتاحة: https://doi.org/10.5281/zenodo.8021

المؤلفون: Afd Pharmacology, Pharmacology, Taranta, Anna, elmonem, mohamed a, Bellomo, Francesco, Leo, Ester De, Boenzi, Sara, Janssen, Manoe J., Jamalpoor, Amer, Cairoli, Sara, Pastore, Anna, Stefanis, Cristiano De, Colucci, Manuela, Rega, Laura R., giovannoni, isabella, Francalanci, Paola, Heuvel, Lambertus P. van den, Dionisi-Vici, Carlo, Goffredo, Bianca M., Masereeuw, Rosalinde, Levtchenko, Elena, Emma, Francesco

URL: https://doi.org/10.3390/cells10123294
http://hdl.handle.net/1874/413779
https://www.mdpi.com/2073-4409/10/12/3294
2073-4409
Cells
10
12
1
16
3294

المؤلفون: Iglesias, Diana M., El-Kares, Reyhan, Taranta, Anna, Bellomo, Francesco, Emma, Francesco, Besouw, Martine, Levtchenko, Elena, Toelen, Jaan, van den Heuvel, Lambertus, Chu, LeeLee, Zhao, Jing, Young, Yoon Kow, Eliopoulos, Nicoletta, Goodyer, Paul

المصدر: Iglesias , D M , El-Kares , R , Taranta , A , Bellomo , F , Emma , F , Besouw , M , Levtchenko , E , Toelen , J , van den Heuvel , L , Chu , L , Zhao , J , Young , Y K , Eliopoulos , N & Goodyer , P 2012 , ' Stem Cell Microvesicles Transfer Cystinosin to Human Cystinotic Cells and Reduce Cystine Accumulation In Vitro ' , PLoS ONE , vol. 7 , no. 8 , 42840 . https://doi.org/10.1371/journal.pone.0042840

مصطلحات موضوعية: NEPHROPATHIC CYSTINOSIS, DIMETHYL ESTER, KIDNEY INJURY, LEUKOCYTES, TRANSPLANTATION, IDENTIFICATION, COMMUNICATION, FIBROBLASTS, CYSTEAMINE, MEDIATORS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/d713b71d-9db8-444a-9beb-40f7d63c9ee5
https://research.rug.nl/en/publications/d713b71d-9db8-444a-9beb-40f7d63c9ee5
https://doi.org/10.1371/journal.pone.0042840
https://pure.rug.nl/ws/files/90141738/journal.pone.0042840.PDF

المؤلفون: Corallini, Serena, Taranta, Anna, Bellomo, Francesco, Palma, Alessia, Pastore, Anna, Emma, Francesco

المصدر: Pediatric Research ; volume 70, issue 2, page 130-135 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/pdr.0b013e3182200187