Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Salin A. Chakkalakal"'
Publikováno v:
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 756-762 (2012)
Fibrodysplasia ossificans progressiva (FOP; MIM #135100) is a debilitating genetic disorder of connective tissue metamorphosis. It is characterized by malformation of the great (big) toes during embryonic skeletal development and by progressive heter
Externí odkaz:
https://doaj.org/article/be28cdc481d64d4aa16cc4a003579bab
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 2, p 541 (2018)
Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cy
Externí odkaz:
https://doaj.org/article/489900ffdb294d89ba6759085b780646
Autor:
Enjun Yang, Frederick S. Kaplan, Taku Kambayashi, Salin A Chakkalakal, J B S Robert Caron, Eileen M. Shore, Michael R. Convente, B S Deyu Zhang
Publikováno v:
Journal of Bone and Mineral Research. 33:269-282
Heterotopic ossification (HO) is a clinical condition that often reduces mobility and diminishes quality of life for affected individuals. The most severe form of progressive HO occurs in those with fibrodysplasia ossificans progressiva (FOP; OMIM #1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3aed1a18d0b480ff02d0c270866345a1
https://doi.org/10.1002/jbmr.3304
https://doi.org/10.1002/jbmr.3304
Autor:
Eileen M. Shore, Salin A Chakkalakal, Maurizio Pacifici, Deyu Zhang, Masahiro Iwamoto, Aris N. Economides, Michael R. Convente, Kenta Uchibe, Frederick S. Kaplan
Publikováno v:
Journal of Bone and Mineral Research. 31:1666-1675
Fibrodysplasia ossificans progressiva (FOP), a rare and as yet untreatable genetic disorder of progressive extraskeletal ossification, is the most disabling form of heterotopic ossification (HO) in humans and causes skeletal deformities, movement imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b6a88c0fa4b5241bf7e7e956d3372cc
https://doi.org/10.1002/jbmr.2820
https://doi.org/10.1002/jbmr.2820
Autor:
Salin A Chakkalakal, Eileen M. Shore
Publikováno v:
Methods in Molecular Biology ISBN: 9781493989034
Methods Mol Biol
Methods Mol Biol
Fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of progressive extra-skeletal ossification, is the most disabling form of heterotopic ossification (HO) in humans. Most people with FOP carry an activating mutation in a BMP type I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d58b50077677e433a39b64e22680bf
https://doi.org/10.1007/978-1-4939-8904-1_18
https://doi.org/10.1007/978-1-4939-8904-1_18
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 541
International Journal of Molecular Sciences, Vol 19, Iss 2, p 541 (2018)
International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 541
International Journal of Molecular Sciences, Vol 19, Iss 2, p 541 (2018)
Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3caa2efae4558885d5cc6b96e85f0d08
https://pubmed.ncbi.nlm.nih.gov/29439465
https://pubmed.ncbi.nlm.nih.gov/29439465
Autor:
Michael R, Convente, Salin A, Chakkalakal, EnJun, Yang, Robert J, Caron, Deyu, Zhang, Taku, Kambayashi, Frederick S, Kaplan, Eileen M, Shore
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 33(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3fcac0f781463fdf0534f748cc5f4611
https://pubmed.ncbi.nlm.nih.gov/29178621
https://pubmed.ncbi.nlm.nih.gov/29178621
Autor:
Eileen M. Shore, Deyu Zhang, Frederick S. Kaplan, Robert J. Caron, Michael R. Convente, Taku Kambayashi, Salin A Chakkalakal, Enjun Yang
Publikováno v:
Journal of Bone and Mineral Research. 33:367-368
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5790cdb99e6b20733e9c1475c52a843f
https://doi.org/10.1002/jbmr.3349
https://doi.org/10.1002/jbmr.3349
Publikováno v:
Disease Models & Mechanisms
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 756-762 (2012)
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 756-762 (2012)
Fibrodysplasia ossificans progressiva (FOP; MIM #135100) is a debilitating genetic disorder of connective tissue metamorphosis. It is characterized by malformation of the great (big) toes during embryonic skeletal development and by progressive heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bdb5c8bc2acf99e60d07544e06d9fd7
http://europepmc.org/articles/PMC3484858
http://europepmc.org/articles/PMC3484858
Autor:
Edwin G. Theosmy, Andria L Culbert, Eileen M. Shore, Salin A Chakkalakal, Frederick S. Kaplan, Tracy A. Brennan
Publikováno v:
Stem cells (Dayton, Ohio). 32(5)
Bone morphogenetic protein (BMP) signaling is a critical regulator of cartilage differentiation and endochondral ossification. Gain-of-function mutations in ALK2, a type I BMP receptor, cause the debilitating disorder fibrodysplasia ossificans progre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c88bc774dc9b6dd86f952ec971489c
https://pubmed.ncbi.nlm.nih.gov/24449086
https://pubmed.ncbi.nlm.nih.gov/24449086