SMITH-MCCORT DYSPLASIA
|
0.820 |
GeneticVariation
|
disease |
BEFREE |
Smith-McCort dysplasia (SMC OMIM 615222) and Dyggve-Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in DYM (OMIM 607461).
|
28127940 |
2017 |
SMITH-MCCORT DYSPLASIA
|
0.820 |
Biomarker
|
disease |
MGD |
Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species.
|
18852472 |
2008 |
SMITH-MCCORT DYSPLASIA
|
0.820 |
Biomarker
|
disease |
BEFREE |
Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species.
|
18852472 |
2008 |
SMITH-MCCORT DYSPLASIA
|
0.820 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recent advances in Dyggve-Melchior-Clausen syndrome.
|
15464420 |
2005 |
SMITH-MCCORT DYSPLASIA
|
0.820 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
|
12491225 |
2003 |
SMITH-MCCORT DYSPLASIA
|
0.820 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SMITH-MCCORT DYSPLASIA
|
0.820 |
Biomarker
|
disease |
CTD_human |
|
|
|
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Smith-McCort dysplasia (SMC OMIM 615222) and Dyggve-Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in DYM (OMIM 607461).
|
28127940 |
2017 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.
|
25652408 |
2015 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
|
21280149 |
2011 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
DYM is the causal gene for Dyggve-Melchior-Clausen syndrome and this study shows the second neuropsychiatric disorder in which the DYM gene is involved.
|
20555340 |
2010 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
These data indicate that DMC results from a loss-of-function of Dymeclin, a novel peripheral membrane protein which shuttles rapidly between the cytosol and mature Golgi membranes and point out a role of Dymeclin in cellular trafficking.
|
18996921 |
2009 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
These data indicate that DMC results from a loss-of-function of Dymeclin, a novel peripheral membrane protein which shuttles rapidly between the cytosol and mature Golgi membranes and point out a role of Dymeclin in cellular trafficking.
|
18996921 |
2009 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
These data indicate that DMC results from a loss-of-function of Dymeclin, a novel peripheral membrane protein which shuttles rapidly between the cytosol and mature Golgi membranes and point out a role of Dymeclin in cellular trafficking.
|
18996921 |
2009 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species.
|
18852472 |
2008 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194-1G > A, 938_942delTGTCT) in the DMC families.
|
16470731 |
2006 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
Similarities with DMC prompted us to test and eventually exclude the DMC gene, dymeclin, by direct sequencing.
|
15726110 |
2005 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
|
16097008 |
2005 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families.
|
12554689 |
2003 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
|
12491225 |
2003 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.
|
12491225 |
2003 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families.
|
12554689 |
2003 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
We detected seven deleterious mutations within a gene predicted from a human transcript (FLJ20071) in 10 DMC families.
|
12554689 |
2003 |
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|
Dyggve-Melchior-Clausen syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|