Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pertchoui B. Mekikian"'
Autor:
Hulya Bukulmez, David Givol, Pavel Krejci, William R. Wilcox, Takehiko Matsushita, Kazuyuki Otani, Shunichi Murakami, Isakichi Yamaura, Pertchoui B. Mekikian, Yuk Yu Chan, Aya Kawanami, Gener Balmes, Matthew L. Warman
Publikováno v:
Human Molecular Genetics. 18:227-240
Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias. In these disorders, spinal canal and foramen magnum stenosis can cause serious neurologic complications. Here, we provide evide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f978a1df803437a89b565bfa6be41bd7
https://doi.org/10.1093/hmg/ddn339
https://doi.org/10.1093/hmg/ddn339
Publikováno v:
Pediatric Research. 61:267-272
Fibroblast growth factors (FGF) regulate bone growth, but their expression in human cartilage is unclear. Here, we determined the expression of entire FGF family in human fetal growth plate cartilage. Using reverse transcriptase PCR, the transcripts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ef245f08147b0f27255a3f4f3e9faf
https://doi.org/10.1203/pdr.0b013e318030d157
https://doi.org/10.1203/pdr.0b013e318030d157
Publikováno v:
Leukemia. 20:1165-1168
Fibroblast growth factor receptor 3 (FGFR3) is a membrane-anchored receptor tyrosine kinase that transmits intercellular signals mediated by a family of fibroblast growth factors (FGFs). In multiple myeloma (MM), 15% of patients markedly upregulate F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07c3ef06dc95c3eb21745bb145337ed4
https://doi.org/10.1038/sj.leu.2404202
https://doi.org/10.1038/sj.leu.2404202
Autor:
Bernard Masri, William R. Wilcox, Hervé Prats, MaryAnn Weis, Vincent Fontaine, Pavel Krejci, Pertchoui B. Mekikian
Publikováno v:
Journal of Cell Science. 118:5089-5100
Overexpression of C-natriuretic peptide (CNP) in cartilage partially rescues achondroplasia in the mouse. Here, we studied the interaction of fibroblast growth factor (FGF) and CNP signaling in chondrocytes. CNP antagonized FGF2-induced growth arrest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5334a129a11ca6152b7c5e57817b1e93
https://doi.org/10.1242/jcs.02618
https://doi.org/10.1242/jcs.02618
Autor:
Vitezslav Bryja, Pertchoui B. Mekikian, Pavel Krejci, Aleš Hampl, William R. Wilcox, Robert Pogue, Jiri Pachernik
Publikováno v:
Experimental Cell Research. 297:152-164
Several forms of human dwarfism are due to activating mutations in FGFR3 highlighting the role of FGF signaling in the growth attenuation of cartilage. Here, we studied the effects of FGF2 on RCS chondrocytes. Treatment with FGF2 induced growth arres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78defaebcf9f7dbc85634f37925831b0
https://doi.org/10.1016/j.yexcr.2004.03.011
https://doi.org/10.1016/j.yexcr.2004.03.011
Autor:
William R. Wilcox, Ralph S. Lachman, Pertchoui B. Mekikian, Margaret M. McGovern, Steven G. Brodie
Publikováno v:
American Journal of Medical Genetics. 83:372-377
We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs. Radiographic findings at necropsy included increased density in all bones, most marked in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71152cb437563b4b1703195ab99df41c
https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<372::aid-ajmg6>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<372::aid-ajmg6>3.0.co
Publikováno v:
American journal of medical genetics. Part A. (1)
We showed that mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8d29ff32809cbbb1b29a60b6f68b6f3
https://pubmed.ncbi.nlm.nih.gov/15368503
https://pubmed.ncbi.nlm.nih.gov/15368503
Autor:
Stephanie E. Wallace, Ralph S. Lachman, William R. Wilcox, Pertchoui B. Mekikian, Kathy K. Bui
Publikováno v:
American journal of medical genetics. Part A. (3)
Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the diaphyses of the long bones and the skull. Mutations in transforming growth factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::899b58b1d2e1d126623d0da123186346
https://pubmed.ncbi.nlm.nih.gov/15326622
https://pubmed.ncbi.nlm.nih.gov/15326622
Autor:
William R. Wilcox, Steven G. Brodie, Ralph S. Lachman, David L. Rimoin, Hiroshi Kitoh, Pertchoui B. Mekikian
Publikováno v:
Pediatric radiology. 28(10)
The platyspondylic lethal skeletal dysplasias (PLSD) are a group of heterogeneous disorders including thanatophoric dysplasia (TD) and the TD variants (San Diego, Torrance, and Luton types). TD is the most common form and has been divided into two su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b667bc86510346d3c811ffd4bb08035a
https://pubmed.ncbi.nlm.nih.gov/9799297
https://pubmed.ncbi.nlm.nih.gov/9799297
Publikováno v:
Journal of Investigative Medicine. 52:S100.1-S100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::692dd73d81a0cfc0bf23f121f4905b8f
https://doi.org/10.1136/jim-52-suppl1-121
https://doi.org/10.1136/jim-52-suppl1-121