2238 Uitto, Jouni J - Thomas Jefferson University - Thomas Jefferson University

Jouni J. Uitto, MD, PhD

Contact Dr. Uitto

233 South Tenth Street
Bluemle Life Sciences Building, Suite 450
Philadelphia, PA 19107

(215) 503-5785

Most Recent Peer-reviewed Publications

  1. Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: A large deletion/insertion mutation in the enpp1 gene
  2. Juxta-articular joint-capsule mineralization in CD73 deficient mice: Similarities to patients with NT5E mutations
  3. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: Genotypic overlap with pseudoxanthoma elasticum
  4. Mouse models for pseudoxanthoma elasticum: Genetic and dietary modulation of the ectopic mineralization phenotypes
  5. Zebrafish as a model system to study skin biology and pathology
  6. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; Pharmacological correction of the mislocalized proteins
  7. Phenotypic Characterization of the KK/HlJ Inbred Mouse Strain
  8. Altered MCM protein levels and autophagic flux in aged and systemic sclerosis dermal fibroblasts
  9. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes
  10. Heritable disorders of connective tissue: Introduction to mini-review cluster
  11. Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification
  12. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: The Abcc6 tm1Jfk and Enpp1 asj mutant mice
  13. Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris
  14. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
  15. Changes in dermal fibroblasts from Abcc6-/- mice are present before and after the onset of ectopic tissue mineralization
  16. Mouse alopecia areat 06F8 a and heart disease: Know your mouse!
  17. Pseudoxanthoma elasticum: Diagnostic features, classification and treatment options
  18. Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum
  19. Genodermatoses
  20. Rate of Change of Carotid Intima-Media Thickness with Magnesium Administration in Abcc6-/- Mice