|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
The results of the present study suggested that the compound heterozygous mutations in HSPG2 may be responsible the induction of SJS1, and demonstrated the genotype‑phenotype associations between mutations in the HSPG2 gene and clinical characteristics of SJS1.
|
29901129 |
2018 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.
|
27521129 |
2016 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.
|
22449950 |
2012 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
|
18647752 |
2008 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome.
|
17213231 |
2007 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice.
|
11802174 |
2002 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
|
11279527 |
2001 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
CTD_human |
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
|
11279527 |
2001 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families.
|
11101850 |
2000 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families.
|
11101850 |
2000 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families.
|
11101850 |
2000 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
CTD_human |
Perlecan is essential for cartilage and cephalic development.
|
10545953 |
1999 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
Perlecan is essential for cartilage and cephalic development.
|
10545953 |
1999 |
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Schwartz-Jampel Syndrome, Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
BEFREE |
Deficiency of perlecan increases the risk of osteoporosis in patients with Schwartz-Jampel Syndrome (SJS) and attenuates loading-induced bone formation in perlecan deficient mice (Hypo).
|
31715337 |
2020 |
|
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
BEFREE |
Perlecan/HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome.
|
30203597 |
2018 |
|
Schwartz-Jampel Syndrome
|
0.880 |
GeneticVariation
|
disease |
BEFREE |
As five of the seven missense mutations in SJS affect domain III of perlecan, domain III is likely to be essential for secretion of perlecan into the extracellular space.
|
26031903 |
2015 |
|
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
MGD |
Altogether, our data shed light on perlecan function by revealing critical roles in Schwann cell physiology and suggest that PNH in SJS originates distally from synergistic actions of peripheral nerve and neuromuscular junction changes.
|
22449950 |
2012 |
|
Schwartz-Jampel Syndrome
|
0.880 |
GermlineCausalMutation
|
disease |
ORPHANET |
Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.
|
19367640 |
2009 |
|
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
MGD |
We used homologous recombination to generate a knock-in mouse strain with one missense substitution, corresponding to a human familial SJS mutation (p.C1532Y), in the perlecan gene.
|
18647752 |
2008 |
|
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
MGD |
These studies question the C1532Y mutation as the sole causative factor of SJS in the human family harboring this alteration and imply that transcriptional changes leading to perlecan reduction may represent the disease mechanism for SJS.
|
17213231 |
2007 |
|
Schwartz-Jampel Syndrome
|
0.880 |
GeneticVariation
|
disease |
BEFREE |
These studies question the C1532Y mutation as the sole causative factor of SJS in the human family harboring this alteration and imply that transcriptional changes leading to perlecan reduction may represent the disease mechanism for SJS.
|
17213231 |
2007 |