Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Melanie K. Webster"'
Autor:
Daniel J. Donoghue, Jinny Szabo, William R. Wilcox, Clair A. Francomano, Ethylin Wang Jabs, John J. Wasmuth, Alexander E. Fraley, Gary A. Bellus, Michael J. Bamshad, Wen Jiang, Melanie K. Webster, Patricia L. Tavormina, Iain Mcintosh, Leslie M. Thompson
Publikováno v:
The American Journal of Human Genetics. 64(3):722-731
SummaryWe have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df26b6beb894023238aa201f6a689c3d
Autor:
Melanie K. Webster, Daniel J. Donoghue
Publikováno v:
Trends in Genetics. 13:178-182
During the past two years, a growing number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as causing autosomal dominant disorders of skeletal and cranial development. These mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb8571c0d78151154426db0adfc0c176
https://doi.org/10.1016/s0168-9525(97)01131-1
https://doi.org/10.1016/s0168-9525(97)01131-1
Publikováno v:
Molecular and Cellular Biology. 16:4081-4087
Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3). We demonstrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4009a75cc02aa802874c41ceffdf54d1
https://doi.org/10.1128/mcb.16.8.4081
https://doi.org/10.1128/mcb.16.8.4081
Autor:
Melanie K. Webster, Daniel J. Donoghue
Publikováno v:
The EMBO Journal. 15:520-527
Achondroplasia, the most common genetic form of dwarfism, is an autosomal dominant disorder whose underlying mechanism is a defect in the maturation of the cartilage growth plate of long bones. Achondroplasia has recently been shown to result from a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::096ab3bb9214c0dc4c00cd16184524ac
https://doi.org/10.1002/j.1460-2075.1996.tb00384.x
https://doi.org/10.1002/j.1460-2075.1996.tb00384.x
Publikováno v:
Journal of Biological Chemistry. 268:11482-11485
Serine/threonine protein kinases are important regulators of diverse cellular processes including metabolism, proliferation, and differentiation. We have previously identified the cDNA for a 49-kDa serine/threonine kinase, designated sgk, which is tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16da45dbb5554b5e3b90e14111d75059
https://doi.org/10.1016/s0021-9258(19)50221-6
https://doi.org/10.1016/s0021-9258(19)50221-6
Publikováno v:
Molecular and Cellular Biology. 13:2031-2040
A novel member of the serine/threonine protein kinase gene family, designated sgk, for serum and glucocorticoid-regulated kinase, was identified in a differential screen for glucocorticoid-inducible transcripts expressed in the Con8.hd6 rat mammary t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb83f1ea11ca16183d24d8eb8752fe6
https://doi.org/10.1128/mcb.13.4.2031-2040.1993
https://doi.org/10.1128/mcb.13.4.2031-2040.1993
Publikováno v:
Journal of Biological Chemistry. 265:4831-4838
CON8 is a single-cell derived subclone of the 13762NF transplantable, hormone-responsive rat mammary tumor that proliferates rapidly in serum-free medium. Addition of either glucocorticoids or calf serum alone caused a slight stimulation of CON8 prol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0df88f36c5c4f34b12b6dea249bf68e3
https://doi.org/10.1016/s0021-9258(19)34048-7
https://doi.org/10.1016/s0021-9258(19)34048-7
Autor:
April N. Meyer, Kristen C. Hart, Brendan D. Galvin, Melanie K. Webster, Scott C Robertson, Daniel J. Donoghue
Multiple human skeletal and craniosynostosis disorders, including Crouzon, Pfeiffer, Jackson–Weiss, and Apert syndromes, result from numerous point mutations in the extracellular region of fibroblast growth factor receptor 2 (FGFR2). Many of these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da09db70c7d139bafcc9c78736afc996
https://escholarship.org/uc/item/7bg2g0sc
https://escholarship.org/uc/item/7bg2g0sc
Publikováno v:
The Journal of Cell Biology
The receptor tyrosine kinase p185c-neu can be constitutively activated by the transmembrane domain mutation Val664→ Glu, found in the oncogenic mutant p185neu. This mutation is predicted to allow intermolecular hydrogen bonding and receptor dimeriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145dca84ea0f6c2c9afe78026dff950c
https://escholarship.org/uc/item/0f14n06v
https://escholarship.org/uc/item/0f14n06v
Crouzon syndrome is an autosomal dominant condition primarily characterized by craniosynostosis. This syndrome has been associated with a variety of amino acid point mutations in the extracellular domain of fibroblast growth factor receptor 2 (FGFR2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d63e81aaec7884e574e9f50955acc37
https://europepmc.org/articles/PMC38845/
https://europepmc.org/articles/PMC38845/