Výsledky vyhledávání - "Claudia Covaciu"

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation inKRT10

Autor: Giovanna Zambruno, G. Ragone, Daniele Castiglia, Claudia Covaciu, A. Nannipieri, Paolo Ghirri, N. De Luca, Marco Castori

Publikováno v: British Journal of Dermatology. 162:1384-1387

Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e6060b7f5bf89c155629f023e0107cc
https://doi.org/10.1111/j.1365-2133.2010.09665.x

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Trisomic rescue causing reduction to homozygosity for a novelABCA12mutation in harlequin ichthyosis

Autor: Elisa Pisaneschi, C Magnani, Daniele Castiglia, Giovanna Zambruno, M Sommi, J Fischer, Claudia Covaciu, Marco Castori

Publikováno v: Clinical Genetics. 76:392-397

Harlequin ichthyosis (HI) is the most severe and often lethal form of congenital ichthyosis, characterized by abnormal desquamation and extreme skin thickening and hardening over the entire body. It is caused by recessive loss-of-function mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30c47fdaccf125eb7c1d6bf72427bdef
https://doi.org/10.1111/j.1399-0004.2009.01198.x

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A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome

Autor: Paola Grammatico, Claudia Covaciu, Rosanna Rinaldi, Marco Castori, Mauro Paradisi

Publikováno v: Journal of the American Academy of Dermatology. 59:S92-S98

Nicolaides-Baraitser syndrome (NBS) is a recognizable pattern of human malformations so far reported only in 5 patients. This condition is chiefly characterized by congenital hypotrichosis, peculiar facial gestalt, short metacarpals, interphalangeal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624f3889c125299053e4cd7235a7ae2a
https://doi.org/10.1016/j.jaad.2008.05.016

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Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

Autor: Isabella Torrente, Claudia Covaciu, Giovanna Floriddia, Daniele Castiglia, Mauro Paradisi, Elisa Pisaneschi, Marco Castori

Publikováno v: Journal of Dermatological Science. 51:58-61

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d1a3858ad92902a2ce164d2cae79137e
https://doi.org/10.1016/j.jdermsci.2008.02.006

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The increase in maternal expression of axin1 and axin2 contribute to the zebrafish mutant ichabod ventralized phenotype

Autor: Fabio, Valenti, Jessica, Ibetti, Yuko, Komiya, Melissa, Baxter, Anna Maria, Lucchese, Lauren, Derstine, Claudia, Covaciu, Valeria, Rizzo, Renza, Vento, Giuseppe, Russo, Marcella, Macaluso, Franco, Cotelli, Daniele, Castiglia, Cara J, Gottardi, Raymond, Habas, Antonio, Giordano, Gianfranco, Bellipanni

β-Catenin is a central effector of the Wnt pathway and one of the players in Ca(+)-dependent cell-cell adhesion. While many wnts are present and expressed in vertebrates, only one β-catenin exists in the majority of the organisms. One intriguing ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::572f78d72915e63e2407535f46aa0848
http://hdl.handle.net/10447/109413

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MicroRNA-155 Targets the SKI Gene in Human Melanoma Cell Lines

Autor: Lauretta, Levati, Elena, Pagani, Sveva, Romani, Daniele, Castiglia, Eugenia, Piccinni, Claudia, Covaciu, Patrizia, Caporaso, Sergio, Bondanza, Francesca R, Antonetti, Enzo, Bonmassar, Fabio, Martelli, Ester, Alvino, Stefania, D'Atri

Publikováno v: Pigment cell & melanoma research
(2011).
info:cnr-pdr/source/autori:Lauretta Levati, Elena Pagani, Sveva Romani, Daniele Castiglia, Eugenia Piccinni, Claudia Covaciu, Patrizia Caporaso, Sergio Bondanza, Francesca Romana Antonetti, Enzo Bonmassar, Fabio Martelli, Ester Alvino and Stefania DAtri/titolo:MicroRNA-155 Targets the SKI Gene in Human Melanoma Cell Lines/doi:/rivista:Pigment cell & melanoma research (Print)/anno:2011/pagina_da:/pagina_a:/intervallo_pagine:/volume
24 (2011): 538–550. doi:10.1111/j.1755-148X.2011.00857.x
info:cnr-pdr/source/autori:Levati, Lauretta; Pagani, Elena; Romani, Sveva; Castiglia, Daniele; Piccinni, Eugenia; Covaciu, Claudia; Caporaso, Patrizia; Bondanza, Sergio; Antonetti, Francesca R.; Bonmassar, Enzo; Martelli, Fabio; Alvino, Ester; D'Atri, Stefania/titolo:MicroRNA-155 targets the SKI gene in human melanoma cell lines/doi:10.1111%2Fj.1755-148X.2011.00857.x/rivista:Pigment cell & melanoma research (Print)/anno:2011/pagina_da:538/pagina_a:550/intervallo_pagine:538–550/volume:24

P>The SKI protein is a transcriptional coregulator over-expressed in melanoma. Experimentally induced down-regulation of SKI inhibits melanoma cell growth in vitro and in vivo. MicroRNAs (miRNAs) negatively modulate gene expression and have been impl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4e80a57123bb317f3af9ff12aa93b5d5
https://publications.cnr.it/doc/59190

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The cyclin-dependent kinase inhibitor PHA-848125 suppresses the in vitro growth of human melanomas sensitive or resistant to temozolomide, and shows synergistic effects in combination with this triazene compound

Autor: Maria Gabriella Brasca, Claudia Covaciu, Marina Ciomei, Ester Alvino, Enzo Bonmassar, Daniele Castiglia, Lauretta Levati, Giuseppe Starace, Stefania D'Atri, Alberto Garbin, Simona Caporali

Publikováno v: Pharmacological research
61(5) (2010): 437–448.
info:cnr-pdr/source/autori:(a)Simona Caporali; (b)Ester Alvino; (b, c)Giuseppe Starace; (d)Marina Ciomei; (d)Maria Gabriella Brasca; (a)Lauretta Levati; (a)Alberto Garbin; (e)Daniele Castiglia; (e)Claudia Covaciu; (b,f)Enzo Bonmassar; (a)Stefania D'Atri/titolo:The cyclin-dependent kinase inhibitor PHA-848125 suppresses the in vitro growth of human melanomas sensitive or resistant to temozolomide, and shows synergistic effects in combination with this triazene compound/doi:/rivista:Pharmacological research (Print)/anno:2010/pagina_da:437/pagina_a:448/intervallo_pagine:437–448/volume:61(5)

PHA-848125 is a novel cyclin-dependent kinase inhibitor under Phase I/II clinical investigation. In this study, we describe, for the first time, the effect of PHA-848125 on human melanoma cells in vitro. Seven melanoma cell lines with different sensi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79df535e5f2be37ddd7a90b4c729ee5
https://pubmed.ncbi.nlm.nih.gov/20026273

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Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans

Autor: Claudia Covaciu, Mauro Paradisi, Giovanna Zambruno, Marco Castori

Publikováno v: European journal of medical genetics. 52(1)

Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis mainly characterized by follicular hyperkeratosis, progressive cicatricial alopecia and photophobia. Although an excess of affected males and linkage studies strongly sug

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0335a41cc627f8f023e30d27c8f75bcd
https://pubmed.ncbi.nlm.nih.gov/18984066

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