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Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
TLDR
A newly identified association caused by RASA1 mutations is named "CM-AVM," for capillary malformation-arteriovenous malformation, which can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells.
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix
Chromosome instability is common in human cleavage-stage embryos
TLDR
This study establishes that chromosome instability is also common during early human embryogenesis and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies
TLDR
The updated official ISSVA classification of vascular anomalies is presented, acknowledging that it will require modification as new scientific information becomes available.
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast‐flow vascular anomalies are caused by RASA1 mutations
TLDR
This first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity is reported, finding some CM‐AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2.
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma
TLDR
Normalization of the constitutive VEGfr2 signaling in hemECs with soluble VEGFR1 or antibodies that neutralize VEGF or stimulate β1 integrin suggests that local administration of these or similar agents may be effective in hemangioma treatment.
Genetics of lymphatic anomalies.
TLDR
Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors that explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms.
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
TLDR
It is shown that SOX18 mutations in humans cause both recessive and dominant hypotrichosis-lymphedema-telangiectasia, suggesting that, in addition to its established role in hair and blood vessel development, theSOX18 transcription factor plays a role in the development and/or maintenance of lymphatic vessels.
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