Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Eleonora Maino"'
Autor:
Samar Z. Rizvi, Wing Suen Chan, Eleonora Maino, Sydney Steiman, Georgiana Forguson, Maya Klepfish, Ronald D. Cohn, Evgueni A. Ivakine
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102356- (2024)
Recent progress in genome editing technologies has catalyzed the generation of sophisticated cell models; however, the precise modeling of copy-number variation (CNV) diseases remains a significant challenge despite their substantial prevalence in th
Externí odkaz:
https://doaj.org/article/16631687f3624b21a3da29b4dc879eca
Autor:
Eleonora Maino, Ori Scott, Samar Z. Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 7 (2024)
Externí odkaz:
https://doaj.org/article/102714651e424d538637bc0d58cdac43
Autor:
Matthew Rok, Tatianna Wai Ying Wong, Eleonora Maino, Abdalla Ahmed, Grace Yang, Elzbieta Hyatt, Kyle Lindsay, Sina Fatehi, Ryan Marks, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 246-258 (2023)
Duchenne muscular dystrophy (DMD) is a disease with a life-threatening trajectory resulting from mutations in the dystrophin gene, leading to degeneration of skeletal muscle and fibrosis of cardiac muscle. The overwhelming majority of mutations are m
Externí odkaz:
https://doaj.org/article/f6f44eb7d6ec40c3ab0d3efbe103235b
Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
Autor:
Eleonora Maino, Daria Wojtal, Sonia L Evagelou, Aiman Farheen, Tatianna W Y Wong, Kyle Lindsay, Ori Scott, Samar Z Rizvi, Elzbieta Hyatt, Matthew Rok, Shagana Visuvanathan, Amanda Chiodo, Michelle Schneeweiss, Evgueni A Ivakine, Ronald D Cohn
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp 1-15 (2021)
Abstract Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately, animal models recapitulating such mutations are scarce, limiting our ability to stu
Externí odkaz:
https://doaj.org/article/79b8670d90524c9f9b3d247d4ec1653b
Autor:
Tatianna Wai Ying Wong, Abdalla Ahmed, Grace Yang, Eleonora Maino, Sydney Steiman, Elzbieta Hyatt, Parry Chan, Kyle Lindsay, Nicole Wong, Diane Golebiowski, Joel Schneider, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 9 (2020)
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which i
Externí odkaz:
https://doaj.org/article/331a1839953f44fc84ba83fead6d8655
Autor:
Eleonora Maino, Ori Scott, Samar Z. Rizvi, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine
MECP2 duplication syndrome (MDS) is a neurodevelopmental disorder caused by tandem duplication of theMECP2locus and its surrounding genes, includingIRAK1. Current MDS mouse models involve transgenic expression ofMECP2only, limiting their applicabilit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01d3f8950a8e3cccd379007546a6c4c
https://doi.org/10.1101/2023.02.07.527511
https://doi.org/10.1101/2023.02.07.527511
Autor:
Nicole Wong, Diane Golebiowski, Parry Chan, Sydney Steiman, Elzbieta Hyatt, Abdalla Ahmed, Evgueni A. Ivakine, Grace J. Yang, Eleonora Maino, Tatianna Wai Ying Wong, Lindsay K, Ronald D. Cohn, Joel S. Schneider, Paul Delgado-Olguin
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 9 (2020)
Disease Models & Mechanisms
article-version (VoR) Version of Record
Disease Models & Mechanisms
article-version (VoR) Version of Record
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e3995507c3836c21a82d6f7775148c
http://dmm.biologists.org/content/13/9/dmm045369
http://dmm.biologists.org/content/13/9/dmm045369
Autor:
Steven Erwood, Liangchi Zhou, Teija M.I. Bily, Eleonora Maino, Reid A. Brewer, Ronald D. Cohn, Evgueni A. Ivakine
Publikováno v:
Genome Res
The accurate clinical interpretation of human sequence variation is foundational to personalized medicine. This remains a pressing challenge, however, as genome sequencing becomes routine and new functionally undefined variants rapidly accumulate. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b963dd4b8a6edcac1ce3114faf4bfd91
https://europepmc.org/articles/PMC6886506/
https://europepmc.org/articles/PMC6886506/
Autor:
Amit G. Deshwar, Dwi U. Kemaladewi, Zahra Baghestani, Michael D. Wilson, Elzbieta Hyatt, Xinyi Zhu, Hui Yuan Xiong, Eleonora Maino, Brendan J. Frey, Maylynn Ding, Daniele Merico, Evgueni A. Ivakine, Kara M Place, Ronald D. Cohn, Prabhpreet S Bassi, Huayun Hou
Publikováno v:
Nature medicine. 23(8)
Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71320d8410f7873296b4148a5bf268f6
https://pubmed.ncbi.nlm.nih.gov/28714989
https://pubmed.ncbi.nlm.nih.gov/28714989
Publikováno v:
The American Journal of Family Therapy. 33:19-31
This exploratory review of 25 years of part-time professional practice with individuals, couples, and families, evaluated the number of face-to-face psychotherapy sessions with and without written homework assignments. Contrary to predictions from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::691660714ee3496e7014edb88ad26ca0
https://doi.org/10.1080/01926180590889220
https://doi.org/10.1080/01926180590889220