Zobrazeno 1 - 7
of 7
pro vyhledávání: '"D A Horovitz"'
Autor:
Dafne D G Horovitz, Márcia G Ribeiro, Angelina X Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data from the Hunter Outco
Externí odkaz:
https://doaj.org/article/e02f6f4e3da94bc2bd2b6d7e0796fbd9
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurolog
Externí odkaz:
https://doaj.org/article/046d49182b824391aee55e008044d0c3
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4
Autor:
Maria E S, Gomes, Thatiane Y, Kanazawa, Fernanda R, Riba, Natálya G, Pereira, Maria C C, Zuma, Natana C, Rabelo, Maria T, Sanseverino, Dafne D G, Horovitz, Juan C, Llerena, Denise P, Cavalcanti, Sayonara, Gonzalez
Publikováno v:
Molecular syndromology. 9(2)
Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TDI/TDII). In this study, we performed a genetic study of 123 Brazilian patients with t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c96d616feea1bfb55a1e78372f9828c
https://pubmed.ncbi.nlm.nih.gov/29593476
https://pubmed.ncbi.nlm.nih.gov/29593476
Autor:
Erin K. Roney, Christian P. Schaaf, Dafne D G Horovitz, Wei Li, Jill A. Rosenfeld, Elizabeth Roeder, Joel R. Neilson, Arindam Chaudhury, Callison E Alcott, Janice L. Smith, Huda Y. Zoghbi, Madelyn A. Gillentine, Sau Wai Cheung, Sumit Parikh, Vincenzo A. Gennarino, James W. Wheless, Chun-An Chen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d57dbe81af9d26a7fafe71829b0f1a10
https://doi.org/10.7554/elife.10782.011
https://doi.org/10.7554/elife.10782.011
Autor:
Chun-An Chen, Christian P. Schaaf, James W. Wheless, Wei Li, Joel R. Neilson, Sau Wai Cheung, Sumit Parikh, Huda Y. Zoghbi, Madelyn A. Gillentine, Vincenzo A. Gennarino, Callison E Alcott, Jill A. Rosenfeld, Elizabeth Roeder, Erin K. Roney, Janice L. Smith, Dafne D G Horovitz, Arindam Chaudhury
Publikováno v:
eLife, Vol 4 (2015)
eLife
eLife
The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity lead to neuropsychiatric disease. Despite the importance of MeCP2 levels to brain function, little is known about its regulation. In this study, we report el
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ce8c92f74067690ff17fc95bf277d5
https://elifesciences.org/articles/10782
https://elifesciences.org/articles/10782
Publikováno v:
The Journal of Immunology. 154:2678-2686
Severe combined immunodeficient (SCID) mice injected with co-isogenic CD4+/CD45RBhigh lymph node T cells from normal donors develop a wasting disease that is caused by hyperplasia of the intestinal epithelium. SCID mice injected with purified lymph n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af90496a747198e16bb26ef6e9feaa25
https://doi.org/10.4049/jimmunol.154.6.2678
https://doi.org/10.4049/jimmunol.154.6.2678