Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Leila Romio"'
Autor:
Claire Hogg, Hannah M. Mitchison, Stephen W. Wilson, Andrew Bush, Eddie M.K. Chung, Victoria H. Castleman, Rahul Chodhari, Orit Reish, Amelia Shoemark, Richard D. Emes, Saul Purton, Leila Romio, Keith A. Parker, Christopher O'Callaghan, Nicholas D. E. Greene, Sandra C. P. De Castro, Andrew Rutman, R. Mark Gardiner, Colin Wallis, Mellisa Dixon, Patricia Ybot-Gonzalez, Rene J. Herrera, Robert A. Hirst, Colin A. Johnson
Publikováno v:
The American Journal of Human Genetics. 84(2):197-209
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural defects of the cilia and sperm axoneme that affect movement, l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e78654d7ec47a38cc44e1aea21c7c32b
Autor:
Adrian S. Woolf, Stephen W. Wilson, David Goulding, Derek L. Stemple, John E. Collins, Leila Romio, Silvia Castro, Maria Immacolata Ferrante
Publikováno v:
Human Molecular Genetics
Ferrante, M I, Romio, L, Castro, S, Collins, J E, Goulding, D A, Stemple, D L, Woolf, A S & Wilson, S W 2009, ' Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene ', Human Molecular Genetics, vol. 18, no. 2, pp. 289-303 . https://doi.org/10.1093/hmg/ddn356
Ferrante, M I, Romio, L, Castro, S, Collins, J E, Goulding, D A, Stemple, D L, Woolf, A S & Wilson, S W 2009, ' Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene ', Human Molecular Genetics, vol. 18, no. 2, pp. 289-303 . https://doi.org/10.1093/hmg/ddn356
In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e9b1357ab098a4f5cf93a829ffcae7e
https://doi.org/10.1093/hmg/ddn356
https://doi.org/10.1093/hmg/ddn356
Autor:
Giovanna Giorgio, Karen L. Price, Sue Malcolm, Sally Feather, Mary Porteous, Dian Donnai, Paul J.D. Winyard, Brunella Franco, Leila Romio, Adrian S. Woolf, Victoria Wright
Publikováno v:
Journal of the American Society of Nephrology. 14:680-689
Oral-facial-digital syndrome type 1 (OFD1) causes polycystic kidney disease (PKD) and malformations of the mouth, face and digits. Recently, a gene on Xp22, OFD1, was reported to be mutated in a limited set of OFD1 patients. This study describes muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e820f45df55d381c76d7a945cb0fe510
https://doi.org/10.1097/01.asn.0000054497.48394.d2
https://doi.org/10.1097/01.asn.0000054497.48394.d2
Autor:
Pascale Fanen, Emanuela Caci, Chiara Folli, Leila Romio, Yvette Mettey, Olga Zegarra-Moran, Giulio Cabrini, Frédéric Becq, Luis J. V. Galietta, Jean Michel Vierfond
Publikováno v:
British Journal of Pharmacology. 137:504-512
This study compares the effect of three chemically unrelated cystic fibrosis transmembrane conductance regulator (CFTR) activators on epithelial cell monolayers expressing the G551D-CFTR mutant. We measured Cl− transport as the amplitude of short-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bacf75151ef9f00cdd0e5acc56e4fa80
https://doi.org/10.1038/sj.bjp.0704882
https://doi.org/10.1038/sj.bjp.0704882
Publikováno v:
Amino Acids. 21:151-160
We studied the regulation of taurine transport in ANA1 murine macrophage cell line. Taurine uptake was upregulated by hypertonicity and downregulated by bacterial lypopolysaccharide (LPS) and other stimuli leading to macrophage activation. However co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e627c23403cf77af254241f5a28a2f84
https://doi.org/10.1007/s007260170022
https://doi.org/10.1007/s007260170022
Autor:
B. Ceccopieri, Cristiana Marchese, Alessandro Stella, L. Locatelli, D. Scaglione, Ginevra Guanti, M. Vanzetti, Mariapina Montera, Nicoletta Resta, Cristina Mareni, Leila Romio, F. Bertolino
Publikováno v:
Scopus-Elsevier
More than 100 different mutations in the adenomatous polyposis coli (APC) gene have been identified; virtually all lead to the production of a truncated protein. Clinical details of patients with missense mutations undoubtedly cosegregating with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1bcac2e49f0e8e9efb8db387235c1ed
https://doi.org/10.3109/00365529609052002
https://doi.org/10.3109/00365529609052002
Autor:
Suzanna L. Prosser, Carla A.M. Lopes, Robert A. Hirst, Leila Romio, Adrian S. Woolf, Andrew M. Fry, Christopher O'Callaghan
Ciliopathies are caused by mutations in genes encoding proteins required for cilia organization or function. We show through colocalization with PCM-1, that OFD1 (the product of the gene mutated in oral-facial-digital syndrome 1) as well as BBS4 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d63765bd1d97765c65f42e07553136d7
https://europepmc.org/articles/PMC3031371/
https://europepmc.org/articles/PMC3031371/
Autor:
Leila Romio, Chiara Cecchi, Antonio Leoni, Marco Di Duca, Alessandra Bolino, Valeria Marigo, Roberto Ravazzolo, Anthony P. Monaco, Francesca Ferrera, Maria Laura Feltri, Lawrence Wrabetz, Roberta Cinti, Julie Loader
Publikováno v:
Gene. 283(1-2)
Charcot-Marie-Tooth type 4B (CMT4B) is caused by mutations in the myotubularin-related 2 gene, MTMR2, on chromosome 11q22. To date, six loss of function mutations and one missense mutation have been demonstrated in CMT4B patients. It remains to be de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76920c2682ad92501400e203f450d415
https://pubmed.ncbi.nlm.nih.gov/11867209
https://pubmed.ncbi.nlm.nih.gov/11867209
Autor:
Roberta Cinti, Luca Musante, Marco Seri, Oscar Moran, Luis J. V. Galietta, Leila Romio, Olga Zegarra-Moran
Publikováno v:
Gene. 228(1-2)
The bovine CaCC protein is a putative Ca2+-dependent Cl- channel of airway epithelial cells. Therefore, CaCC proteins could contribute to transepithelial Cl- transport and accordingly modify the phenotype of cystic fibrosis (CF) patients. We have ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9cc041c1c49549268d22399f5900693
https://pubmed.ncbi.nlm.nih.gov/10072771
https://pubmed.ncbi.nlm.nih.gov/10072771
Autor:
A. R. Fantasia, Luis J. V. Galietta, Luigi Varesio, Luciana Musante, Andrea Gazzolo, Ubaldo Caruso, Leila Romio, Olga Zegarra-Moran, Luca Romano, Giovanni A. Rossi, Oliviero Sacco
Publikováno v:
Scopus-Elsevier
We performed Ussing chamber experiments on cultured human bronchial epithelial cells to look for the presence of electrogenic dibasic amino acid transport. Apical but not basolaterall-arginine (10–1,000 μM) increased the short-circuit current. Max
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df02d4381caa58eb470a9b40bcc346d0
https://pubmed.ncbi.nlm.nih.gov/9815109
https://pubmed.ncbi.nlm.nih.gov/9815109