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Metaphyseal chondrodysplasia Schmid type

Known as: MCDS, Metaphyseal Chondrodysplasia, Schmid Type, Spondylometaphyseal Dysplasia, Japanese Type 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1989-2016
024619892016

Related topics

Related topics

2 relations
Autosomal dominant inheritance

Broader (1)

Osteochondrodysplasias

Related mentions per year

Related mentions per year

1938-2018
19401960198020002020
Metaphyseal chondrodysplasia Schmid type
Autosomal dominant inheritance
Osteochondrodysplasias

Papers overview

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2012
2012
A mechanism-based approach to predict the relative biological effectiveness of protons and carbon ions in radiation therapy.
PURPOSE The physical and potential biological advantages of proton and carbon ions have not been fully exploited in radiation… (More)
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2011
2011
A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
BACKGROUND Metaphyseal Chondrodysplasia type Schmid (MCDS) is an autosomal dominant skeletal dysplasia, characterized by coxa… (More)
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2010
2010
Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
Both dominant-negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type… (More)
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2007
2007
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Missense, nonsense and frame-shift mutations in the collagen X gene (COL10A1) result in metaphyseal chondrodysplasia type Schmid… (More)
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2005
2005
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.
The Schmid type of metaphyseal chondrodyplasia (MCDS) is characterized by short stature, widened growth plates, and bowing of the… (More)
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2004
2004
Using metabolic syndrome traits for efficient detection of impaired glucose tolerance.
OBJECTIVE Efficient detection of impaired glucose tolerance (IGT) is needed to implement type 2 diabetes prevention interventions… (More)
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2003
2003
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.
BACKGROUND The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X… (More)
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2002
2002
Virtual Backbone-Based Routing in Multihop Ad Hoc Wireless Networks
Recent research ([12][15][19]) shows that the flooding mechanism (for topology update or route request) used in existing… (More)
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1999
1999
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.
Metaphyseal chondrodysplasia type Schmid (MCDS) is caused by mutations in COL10A1 that are clustered in the carboxyl-terminal non… (More)
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1994
1994
Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid…
Type X collagen is a homotrimeric, short-chain, nonfibrillar extracellular-matrix component that is specifically and transiently… (More)
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