| MERRILL, A.E., A. SARUKHANOV, Pavel KREJČÍ, B. IDONI, N. CAMACHO, K.D. ESTRADA, K.M. LYONS, H. DEIXLER, H. ROBINSON, D. CHITAYAT, C.J. CURRY, R.S. LACHMAN, W.R. WILCOX a D. KRAKOW. Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling. The American Journal of Human Genetics. Chicago: University of Chicago Press, 2012, roč. 90, č. 3, s. 550-557. ISSN 0002-9297. Dostupné z: https://dx.doi.org/10.1016/j.ajhg.2012.02.005. |
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@article{980985,
author = {Merrill, A.E. and Sarukhanov, A. and Krejčí, Pavel and Idoni, B. and Camacho, N. and Estrada, K.D. and Lyons, K.M. and Deixler, H. and Robinson, H. and Chitayat, D. and Curry, C.J. and Lachman, R.S. and Wilcox, W.R. and Krakow, D.},
article_location = {Chicago},
article_number = {3},
doi = {http://dx.doi.org/10.1016/j.ajhg.2012.02.005},
keywords = {APERT-SYNDROME; LADD SYNDROME; GROWTH; MUTATIONS; RECEPTOR-2; ACTIVATION; INDUCTION; CROUZON; MOUSE; DISRUPTION},
language = {eng},
issn = {0002-9297},
journal = {The American Journal of Human Genetics},
title = {Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling},
volume = {90},
year = {2012}
}
TY - JOUR
ID - 980985
AU - Merrill, A.E. - Sarukhanov, A. - Krejčí, Pavel - Idoni, B. - Camacho, N. - Estrada, K.D. - Lyons, K.M. - Deixler, H. - Robinson, H. - Chitayat, D. - Curry, C.J. - Lachman, R.S. - Wilcox, W.R. - Krakow, D.
PY - 2012
TI - Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
JF - The American Journal of Human Genetics
VL - 90
IS - 3
SP - 550-557
EP - 550-557
PB - University of Chicago Press
SN - 00029297
KW - APERT-SYNDROME
KW - LADD SYNDROME
KW - GROWTH
KW - MUTATIONS
KW - RECEPTOR-2
KW - ACTIVATION
KW - INDUCTION
KW - CROUZON
KW - MOUSE
KW - DISRUPTION
N2 - Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in mice have shown that FGFR2 maintains a critical balance between the proliferation and differentiation of osteoprogenitor cells. We have identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum. Four unrelated affected individuals were found to be heterozygous for missense mutations that introduce a polar amino acid into the hydrophobic transmembrane domain of FGFR2. Using diseased chondrocytes and a cell-based assay, we determined that these mutations selectively reduced plasma-membrane levels of FGFR2 and markedly diminished the receptor's responsiveness to extracellular FGF. All together, these clinical and molecular findings are separate from previously characterized FGFR2 disorders and represent a distinct skeletal dysplasia.
ER -
MERRILL, A.E., A. SARUKHANOV, Pavel KREJČÍ, B. IDONI, N. CAMACHO, K.D. ESTRADA, K.M. LYONS, H. DEIXLER, H. ROBINSON, D. CHITAYAT, C.J. CURRY, R.S. LACHMAN, W.R. WILCOX a D. KRAKOW. Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling. \textit{The American Journal of Human Genetics}. Chicago: University of Chicago Press, 2012, roč.~90, č.~3, s.~550-557. ISSN~0002-9297. Dostupné z: https://dx.doi.org/10.1016/j.ajhg.2012.02.005.
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