Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.
Toronto, Canada. In Int J Cardiol, Mar 2016
Established and novel candidate susceptibility genes identified included ACKR3, IFT57, ITGB8, KL, NF1, NKX1-2, RERE, SLC8A1, SOX18, and ULK1.
CHD6 regulates the topological arrangement of the CFTR locus.
Los Angeles, United States. In Hum Mol Genet, Jun 2015
Finally, we indicate that CHD6 structurally coordinates a three-dimensional stricture between intragenic elements of CFTR bound by several cell-type specific transcription factors, such as CDX2, SOX18, HNF4α and HNF1α.
[Primary lymphedema of limbs].
Tours, France. In Presse Med, 2010
It is often associated with mutation in a gene involved in lymphangiogenesis (FOX C2, VEGFR 3, SOX18, PROX 1…).
Sox proteins in melanocyte development and melanoma.
Bethesda, United States. In Pigment Cell Melanoma Res, 2010
Since then, we have discovered that SOX5, SOX9, SOX10 and SOX18 all participate as transcription factors that affect key melanocytic genes in both regulatory and modulatory fashions.
Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.
Cleveland, United States. In Cell Mol Life Sci, 2005
Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN.
Update on the molecular genetics of vascular anomalies.
Cleveland, United States. In Lymphat Res Biol, 2004
These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome.