Information

Related Research Units

Center for the Study of Genetic Skeletal Disorders Research
Orthopedic Surgery Research

Publications

  1. Arteriovenous malformation Map2k1 mutation affects vasculogenesis. Sci Rep. 2023 07 08; 13(1):11074. View Abstract
  2. Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice. Angiogenesis. 2023 02; 26(1):97-105. View Abstract
  3. Bockenheimer disease is associated with a TEK variant. Cold Spring Harb Mol Case Stud. 2021 12; 7(6). View Abstract
  4. Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant. Cold Spring Harb Mol Case Stud. 2021 12; 7(6). View Abstract
  5. EPHB4 mutation causes adult and adolescent-onset primary lymphedema. Am J Med Genet A. 2021 12; 185(12):3810-3813. View Abstract
  6. Lipoblastoma phenotype contains a somatic PIK3CA mutation. Pediatr Dermatol. 2021 Jan; 38(1):299-300. View Abstract
  7. Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations. Clin Genet. 2020 12; 98(6):595-597. View Abstract
  8. Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway. Biochem Biophys Res Commun. 2020 08 20; 529(2):450-454. View Abstract
  9. Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism. Sci Rep. 2020 03 10; 10(1):4428. View Abstract
  10. Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants. Clin Genet. 2020 05; 97(5):736-740. View Abstract
  11. Somatic mutations in intracranial arteriovenous malformations. PLoS One. 2019; 14(12):e0226852. View Abstract
  12. Arteriovenous malformation associated with a HRAS mutation. Hum Genet. 2019 Dec; 138(11-12):1419-1421. View Abstract
  13. Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations. Angiogenesis. 2019 11; 22(4):547-552. View Abstract
  14. The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. Development. 2018 01 08; 145(1). View Abstract
  15. Lubricin restoration in a mouse model of congenital deficiency. Arthritis Rheumatol. 2015 Nov; 67(11):3070-81. View Abstract
  16. Golgi disruption and early embryonic lethality in mice lacking USO1. PLoS One. 2012; 7(11):e50530. View Abstract
  17. Notch3 in human breast cancer cell lines regulates osteoblast-cancer cell interactions and osteolytic bone metastasis. Am J Pathol. 2010 Sep; 177(3):1459-69. View Abstract
  18. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21; 362(3):206-16. View Abstract
  19. Generation of mice harboring a Sox6 conditional null allele. Genesis. 2006 May; 44(5):219-24. View Abstract
  20. Transcriptional control of chondrocyte fate and differentiation. Birth Defects Res C Embryo Today. 2005 Sep; 75(3):200-12. View Abstract
  21. The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005 Mar; 115(3):622-31. View Abstract
  22. Sox5 and Sox6 are needed to develop and maintain source, columnar, and hypertrophic chondrocytes in the cartilage growth plate. J Cell Biol. 2004 Mar 01; 164(5):747-58. View Abstract
  23. Sox5 and Sox6 are required for notochord extracellular matrix sheath formation, notochord cell survival and development of the nucleus pulposus of intervertebral discs. Development. 2003 Mar; 130(6):1135-48. View Abstract
  24. Endothelial release of nitric oxide contributes to the vasodilator effect of adenosine in humans. Circulation. 1995 Oct 15; 92(8):2135-41. View Abstract

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