ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
about
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XIncreased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth.An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse modelSpondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutation
P2860
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
description
2011 nî lūn-bûn
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ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@en
ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@nl
type
label
ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@en
ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@nl
prefLabel
ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@en
ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@nl
P2093
P2860
P1433
P1476
ENU-induced missense mutation ...... etal dysplasia, Torrance type.
@en
P2093
Gen Nishimura
Hiroshi Masuya
Kazunori Imaizumi
Keiichiro Nishida
Kiyoshi Ohkawa
Shigeharu Wakana
Shiro Ikegawa
Takashi Kudo
Tatsuya Furuichi
Tomohiko Murakami
P2860
P2888
P304
P356
10.1007/S00335-011-9329-3
P577
2011-05-03T00:00:00Z