Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Isabella, Gazzoli"'
Autor:
Kamel Mamchaoui, Sabine Krause, Vincent Mouly, Nisha Verwey, Annemieke Aartsma-Rus, Isabella Gazzoli
Publikováno v:
Nucleic Acid Therapeutics, 30(2), 71-79. MARY ANN LIEBERT, INC
Nucleic Acid Therapeutics
Nucleic Acid Therapeutics, Mary Ann Liebert, Inc. publishers, 2020, 30 (2), pp.71-79. ⟨10.1089/nat.2019.0788⟩
Nucleic Acid Therapeutics
Nucleic Acid Therapeutics, Mary Ann Liebert, Inc. publishers, 2020, 30 (2), pp.71-79. ⟨10.1089/nat.2019.0788⟩
Dysferlinopathies encompass a spectrum of progressive muscular dystrophies caused by the lack of dysferlin due to missense mutations in the dysferlin gene or mutations causing premature truncation of protein translation. Dysferlin is a modular protei
Publikováno v:
Oligonucleotide-Based Drugs and Therapeutics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d3b53f0bae9e092d648e9869d46a32f
https://doi.org/10.1002/9781119070153.ch17
https://doi.org/10.1002/9781119070153.ch17
Autor:
Moniek Riemersma, Shmuel Pietrokovski, Hans van Bokhoven, Tony Roscioli, Ayelet Eran, Isabella Gazzoli, Dirk Lefeber, Ron A. Wevers, Ruth Gershoni-Baruch, Ellen van Beusekom, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Hanna Mandel, Moran Gershoni
Publikováno v:
Neurology. 84:2177-2182
Objective: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. Methods: Homozygosity mapping and exome sequencing, followed by Sanger sequenc
Autor:
Richard D. Kolodner, Sapna Syngal, James L. Mueller, Prathap Bandipalliam, Judy Garber, Isabella Gazzoli
Publikováno v:
Cancer Research. 69:7053-7061
An accurate algorithm is essential for effective molecular diagnosis of hereditary colorectal cancer (CRC). Here, we have extended the analysis of 71 CRC cases suspected to be Lynch syndrome cases for MSH2, MLH1, MSH6, and PMS2 gene defects. All case
Autor:
Irina, Pulyakhina, Isabella, Gazzoli, Peter A C, 't Hoen, Nisha, Verwey, Johan T, den Dunnen, Johan, den Dunnen, Annemieke, Aartsma-Rus, Jeroen F J, Laros
Publikováno v:
Nucleic Acids Research, 43(12)
Nucleic Acids Research
Nucleic Acids Research
Alternative splicing is a powerful mechanism present in eukaryotic cells to obtain a wide range of transcripts and protein isoforms from a relatively small number of genes. The mechanisms regulating (alternative) splicing and the paradigm of consecut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350b84778e112b3bb93213c33525e4bd
http://hdl.handle.net/1887/105452
http://hdl.handle.net/1887/105452
Autor:
Irina Pulyakhina, Nisha Verwey, Yavuz Ariyurek, Isabella Gazzoli, Peter A C 't Hoen, Annemieke Aartsma-Rus, Jeroen F.J. Laros
Publikováno v:
RNA Biology, 13(3), 290-305
RNA Biology
RNA Biology
The dystrophin protein encoding DMD gene is the longest human gene. The 2.2 Mb long human dystrophin transcript takes 16 hours to be transcribed and is co-transcriptionally spliced. It contains long introns (24 over 10kb long, 5 over 100kb long) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d59568821767a1bfb2bbf75004dade8
Autor:
Richard D. Kolodner, Isabella Gazzoli
Publikováno v:
Molecular and Cellular Biology. 23:7992-8007
Defects in human DNA mismatch repair have been reported to underlie a variety of hereditary and sporadic cancer cases. We characterized the structure of the MSH6 promoter region to examine the mechanisms of transcriptional regulation of the MSH6 gene
Publikováno v:
Cancer research. 62(14)
Fourteen suspected hereditary nonpolyposis colorectal carcinoma cases with microsatellite unstable(microsatellite instability-high; MSI-H) tumors but no germ-line MSH2, MSH6, or MLH1 mutations were examined for hypermethylation of CpG sites in the cr
Autor:
M. A. Pierotti, Paolo Radice, Pere Sala, Lucio Bertario, Giovanni Buonsanti, Silvano Presciuttini, Salvatore Andreola, Antonio Russo, Valeria Pensotti, Isabella Gazzoli, Guglielmina Nadia Ranzani, Daniele Calistri, M. Eboli
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited syndrome linked to DNA-mismatch-repair (MMR) gene defects, which also account for microsatellite instability (MSI) in tumour tissues. Diagnosis is based mainly on family his
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c431fb78b115d23a1ca420668333e1c0
http://hdl.handle.net/11568/163175
http://hdl.handle.net/11568/163175
Autor:
Isabella Gazzoli, Ana Paula Grimalt Perez, Daniele Calistri, Guglielmina Nadia Ranzani, Valeria Pensotti, P. Mondini, Carlo Rossetti, Paolo Radice, Paola Sala, Silvano Presciuttini, Marco A. Pierotti, Giovanni Buonsanti, Lucio Bertario
Publikováno v:
Genes, chromosomescancer. 19(3)
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLH1, and GTBP, by using a combination of different methods that included a