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Specialty: Internal Medicine
Condition: Rare Diseases
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Total 2 results found since Jan 2013.
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
Conclusions:
Our study shows that we cannot simply extrapolate knowledge on cell signalling in vascular soft tissue calcification to a multisystem ectopic mineralisation disease as PXE. Contrary, we demonstrate a specific set of perturbed signalling pathways in PXE patients and the knock-out mouse model. Based on our findings and previously reported data, we propose a preliminary cell model of ECM calcification in PXE.
Source: Orphanet Journal of Rare Diseases - April 29, 2014 Category: Internal Medicine Authors: Mohammad HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker Source Type: research
Intellectual disability associated with a homozygous missense mutation in THOC6
Conclusion:
Our findings associate a missense mutation in THOC6 with intellectual disability, suggesting the THO/TREX complex plays an important role in neurodevelopment.
Source: Orphanet Journal of Rare Diseases - April 26, 2013 Category: Internal Medicine Authors: Chandree BeaulieuLijia HuangA InnesMarie-Andree AkimenkoErik PuffenbergerCharles SchwartzPaul JerryCarole OberRobert HegeleD McLeodJeremy SchwartzentruberJacek MajewskiDennis BulmanJillian ParboosinghKym Boycott Source Type: research
