Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.
about
Self-assembly and supramolecular organization of EMILINCOL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.The unfolded protein response and its relevance to connective tissue diseases.Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.Coexpression of alpha and beta subunits of prolyl 4-hydroxylase stabilizes the triple helix of recombinant human type X collagen.Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy
P2860
Q28115401-10984A74-67A7-4BC9-85D6-1B406A37F5F0Q34614928-1EA8BD8F-34F3-4F5F-B126-DF0542443B88Q36323301-CB24D892-E8DF-4203-B474-07EF9CFE29B7Q37444924-3698F705-1226-419A-885C-48E145762E63Q40755672-A7F0A094-8358-4B5A-9D19-19AB47DF9516Q40839056-6772E813-FCF6-4722-8774-5DBE8D043E5DQ45253858-5DAF4058-655F-4337-ABE8-6F1BE8115FB0Q57588393-0D4BE4B1-9E1D-4B65-9DB2-36B57621C161
P2860
Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
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1999年學術文章
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name
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@en
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@nl
type
label
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@en
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@nl
prefLabel
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@en
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@nl
P2093
P2860
P356
P1476
Metaphyseal chondrodysplasia t ...... tain the ability to trimerize.
@en
P2093
Boot-Handford RP
P2860
P304
P356
10.1074/JBC.274.6.3632
P407
P577
1999-02-01T00:00:00Z