Zobrazeno 1 - 10
of 328
pro vyhledávání: '"Frederick S, Kaplan"'
Autor:
Robert J. Pignolo, Mona Al Mukaddam, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Edward C. Hsiao, Richard Keen, Kim-Hanh Le Quan Sang, Donna R. Grogan, Rose Marino, Andrew R. Strahs, Frederick S. Kaplan
Publikováno v:
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background The design of clinical trials in rare diseases is often complicated by a lack of real-world translational knowledge. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by skeletal malformat
Externí odkaz:
https://doaj.org/article/3d06cf9e3e804e1d98d678d462963546
Publikováno v:
Biomolecules, Vol 14, Iss 8, p 1009 (2024)
When a genetic disease is characterized by the abnormal activation of normal molecular pathways and cellular events, it is illuminating to critically examine the places and times of these activities both in health and disease. Therefore, because hete
Externí odkaz:
https://doaj.org/article/01c02d04481f45f88ddfe72c06ac20a0
Publikováno v:
Biomolecules, Vol 14, Iss 4, p 485 (2024)
The formation of bone outside the normal skeleton, or heterotopic ossification (HO), occurs through genetic and acquired mechanisms. Fibrodysplasia ossificans progressiva (FOP), the most devastating genetic condition of HO, is due to mutations in the
Externí odkaz:
https://doaj.org/article/3dc7c0d633a447559693bc9be37b588e
Publikováno v:
Biomolecules, Vol 14, Iss 2, p 147 (2024)
Fibrodysplasia ossificans progressiva (FOP; MIM# 135100) is an ultra-rare congenital disorder caused by gain-of-function point mutations in the Activin receptor A type I (ACVR1, also known as ALK2) gene. FOP is characterized by episodic heterotopic o
Externí odkaz:
https://doaj.org/article/0ee5486526b04424ab942dfbac84108c
Autor:
Yeon-Suk Yang, Jung-Min Kim, Jun Xie, Sachin Chaugule, Chujiao Lin, Hong Ma, Edward Hsiao, Jaehyoung Hong, Hyonho Chun, Eileen M. Shore, Frederick S. Kaplan, Guangping Gao, Jae-Hyuck Shim
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-20 (2022)
Fibrodysplasia ossificans progressiva is an ultra-rare genetic disorder with progressive heterotopic ossification. Yang et al develop different gene therapy approaches and show their efficacy in mouse models and in human induced pluripotent stem cell
Externí odkaz:
https://doaj.org/article/261d337857a4449b8131eb048cff41f6
Autor:
Robert J. Pignolo, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L. R. Delai, Kristi Gonzales, Candace Hixson, Alastair Kent, Hope Newport, Manuel Robert, Christiaan Scott, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduou
Externí odkaz:
https://doaj.org/article/df6909682f63467183f8f32298f70fcf
Autor:
Yeon-Suk Yang, Chujiao Lin, Hong Ma, Jun Xie, Frederick S. Kaplan, Guangping Gao, Jae-Hyuck Shim
Publikováno v:
Biomolecules, Vol 13, Iss 9, p 1364 (2023)
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by progressive disabling heterotopic ossification (HO) at extra-skeletal sites. Here, we developed adeno-associated virus (AAV)-based gene therapy that suppre
Externí odkaz:
https://doaj.org/article/40696c78b90643a9a83c19fbbdd827bd
Autor:
Jay C. Groppe, Guorong Lu, Mary R. Tandang-Silvas, Anupama Pathi, Shruti Konda, Jingfeng Wu, Viet Q. Le, Andria L. Culbert, Eileen M. Shore, Kristi A. Wharton, Frederick S. Kaplan
Publikováno v:
Biomolecules, Vol 13, Iss 7, p 1129 (2023)
Although structurally similar to type II counterparts, type I or activin receptor-like kinases (ALKs) are set apart by a metastable helix–loop–helix (HLH) element preceding the protein kinase domain that, according to a longstanding paradigm, ser
Externí odkaz:
https://doaj.org/article/8d9e3eef79a94e28979b018d4bd8e4ef
Autor:
Robert J. Pignolo, Edward C. Hsiao, Genevieve Baujat, David Lapidus, Adam Sherman, Frederick S. Kaplan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare, progressive, and permanently disabling disorder of extraskeletal ossification, is characterized by episodic and painful flare-ups and irreversible heterotopic ossificatio
Externí odkaz:
https://doaj.org/article/8758ae48b7344bd594990cbe0ed04f6c
Autor:
Alexandra D. Forrest, Danielle M. Vuncannon, Jane E. Ellis, Zvi Grunwald, Frederick S. Kaplan
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2022 (2022)
Objective. To evaluate maternal and fetal outcomes in pregnant patients with fibrodysplasia ossificans progressiva (FOP; OMIM#135100), an ultrarare genetic disorder characterized by progressive heterotopic ossification of soft tissues and cumulative
Externí odkaz:
https://doaj.org/article/15bb9c60754e43b68701f459073102e3