Dr. Uitto Jouni J. Uitto, MD, PhD

Contact Dr. Uitto

233 South 10th Street
Room 450
Philadelphia, PA 19107

(215) 503-5785

Research and Clinical Interests
Jouni Uitto, MD, PhD, has been professor of dermatology and cutaneous biology, and biochemistry and molecular biology, and chair of the Department of Dermatology and Cutaneous Biology at Jefferson Medical College, in Philadelphia, Pennsylvania, since 1986.

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Most recent Peer-reviewed Publications

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

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