• Publications
  • Influence
Mutations in WNT1 cause different forms of bone fragility.
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
TLDR
A consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR‐OI) and a large umbilical hernia is studied, concluding that BMP1 is an additional gene mutated in AR‐Oi.
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
TLDR
It is shown here that Evc and Evc2 are mutually required for localizing to primary cilia and also for maintaining their normal protein levels, and that the Hh pathway involves Evc/Evc2-dependent modulations that are necessary for normal endochondral bone formation.
Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum
TLDR
PLOD2 in addition to causing BS is also associated with AR‐OI phenotypes of variable severity, and a homozygous donor splice site mutation in PLOD2 is identified in a patient with autosomal‐recessive OI (AR‐ OI).
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
TLDR
Clinical assessment and sought mutations in patients from 10 unrelated families with AR‐OI, one of whom was presented with the additional features of Bruck syndrome (BS), and pathogenic changes were identified in five different genes.
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
TLDR
It is indicated that splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of EvC cases by disrupting targeting of both the EvC complex and SMO to cilia.
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
TLDR
It is concluded that BMP1 is essential for human type I collagen fibrilogenesis and is associated with osteogenesis imperfecta in two sib pairs.
Statin therapy causes gut dysbiosis in mice through a PXR-dependent mechanism
TLDR
This study demonstrates that statin therapy drives a profound remodelling of the gut microbiota, hepatic gene deregulation and metabolic alterations in mice through a PXR-dependent mechanism.
...
1
2
3
4
...