27EC Uitto, Jouni J - Thomas Jefferson University - Thomas Jefferson University
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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. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: Genotypic overlap with pseudoxanthoma elasticum
  2. Mouse models for pseudoxanthoma elasticum: Genetic and dietary modulation of the ectopic mineralization phenotypes
  3. Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; Pharmacological correction of the mislocalized proteins
  4. Zebrafish as a model system to study skin biology and pathology
  5. Altered MCM protein levels and autophagic flux in aged and systemic sclerosis dermal fibroblasts
  6. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes
  7. Heritable disorders of connective tissue: Introduction to mini-review cluster
  8. Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification
  9. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: The Abcc6 tm1Jfk and Enpp1 asj mutant mice
  10. Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris
  11. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
  12. Changes in dermal fibroblasts from Abcc6-/- mice are present before and after the onset of ectopic tissue mineralization
  13. Mouse alopecia areata and heart disease: Know your mouse!
  14. Pseudoxanthoma elasticum: Diagnostic features, classification and treatment options
  15. Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum
  16. Genodermatoses
  17. Rate of Change of Carotid Intima-Media Thickness with Magnesium Administration in Abcc6-/- Mice
  18. Premature termination codon read-through in the ABCC6 Gene: Potential treatment for pseudoxanthoma elasticum
  19. Zebrafish as a model system to study heritable skin diseases
  20. Paediatric pseudoxanthoma elasticum with cardiovascular involvement
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