Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
CTD_human |
Perlecan is essential for cartilage and cephalic development.
|
10545953 |
1999 |
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
MGD |
Perlecan is essential for cartilage and cephalic development.
|
10545953 |
1999 |
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
BEFREE |
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
|
11101850 |
2000 |
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
CTD_human |
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
|
11279527 |
2001 |
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
MGD |
Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice.
|
11802174 |
2002 |
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
BEFREE |
This resistance to NDMR may result from a lower acetylcholine degradation rate suggested as being the consequence of mutation of the gene encoding perlecan (HSPG2) in SJS.
|
11930277 |
2002 |
Schwartz-Jampel Syndrome
|
0.880 |
Biomarker
|
disease |
BEFREE |
These findings suggest that perlecan has an important role in neuromuscular function and cartilage formation, and they define the molecular basis involved in the difference in the phenotypic severity between DDSH and SJS.
|
11941538 |
2002 |
Schwartz-Jampel Syndrome
|
0.880 |
GeneticVariation
|
disease |
BEFREE |
Only eight HSPG2 mutations have been reported in six SJS families.
|
16927315 |
2006 |
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 |
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 |
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 |
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 |
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 |
BEFREE |
Perlecan/HSPG2: Signaling role of domain IV in chondrocyte clustering with implications for Schwartz-Jampel Syndrome.
|
30203597 |
2018 |
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 |